Seminara, Stephanie
completed student projects: Rare Variants in Genes Implicated in GnRH Deficiency in Constitutional Delay of Puberty Patients
completed student projects: Investigating incidence of Fabry disease in patients with cryptogenic/ischemic stroke
current student opportunities: Global Health: Increasing Contraceptive Choice for Women in Low and Middle Income Countries
current student opportunities: Women’s Health: From Genetic Discovery to Developing New Drugs for Reproductive Disorders
eCommons Login: SBS2
first name: Stephanie
last name: Seminara
coauthor of: Chan, Yee-Ming
coauthor of: Crowley, William
coauthor of: Balasubramanian, Ravikumar
coauthor of: Stamou, Maria
coauthor of: Kaiser, Ursula
full name: Stephanie Beth Seminara, M.D.
has faculty rank: Full Professor
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selected publications: Authorship 1832553
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selected publications: Authorship 1222953
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selected publications: Authorship 1157157
selected publications: Authorship 1164082
selected publications: Authorship 1156901
selected publications: Authorship 1094122
selected publications: Authorship 1114387
selected publications: Authorship 1080921
selected publications: Authorship 1034973
selected publications: Authorship 1059154
selected publications: Authorship 1058724
selected publications: Authorship 1061236
selected publications: Authorship 1046687

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Authorship 1046687
type: Authorship
author rank in publication: 8
linked author: Seminara, Stephanie
linked information resource: Discordance in the Dependence on Kisspeptin Signaling in Mini Puberty vs Adolescent Puberty: Human Genetic Evidence.

Discordance in the Dependence on Kisspeptin Signaling in Mini Puberty vs Adolescent Puberty: Human Genetic Evidence.
PubMed Identifier: 29452377
author list: Shahab M, Lippincott M, Chan YM, Davies A, Merino PM, Plummer L, Mericq V, Seminara S
published in: The Journal of clinical endocrinology and metabolism
information resource reference: Discordance in the Dependence on Kisspeptin Signaling in Mini Puberty vs Adolescent Puberty: Human Genetic Evidence. J Clin Endocrinol Metab. 2018 04 01; 103(4):1273-1276.
journal title abbreviation: J Clin Endocrinol Metab
publication date: 2018-04-01T00:00:00
year: 2018
type: Academic Article
type: Article
type: Document
type: Information Resource

Amiodarone and the thyroid.
PubMed Identifier: 15251765
author list: Seminara SB, Daniels GH
published in: Endocrine practice : official journal of the American College of Endocrinology and the American Association of Clinical Endocrinologists
information resource reference: Amiodarone and the thyroid. Endocr Pract. 1998 Jan-Feb; 4(1):48-57.
journal title abbreviation: Endocr Pract
publication date: 1998-01-01T00:00:00
year: 1998
type: Academic Article
type: Article
type: Document
type: Information Resource

Hypogonadotropic hypogonadism and cleft lip and palate caused by a balanced translocation producing haploinsufficiency for FGFR1.
PubMed Identifier: 16061567
author list: Kim HG, Herrick SR, Lemyre E, Kishikawa S, Salisz JA, Seminara S, MacDonald ME, Bruns GA, Morton CC, Quade BJ, Gusella JF
published in: Journal of medical genetics
information resource reference: Hypogonadotropic hypogonadism and cleft lip and palate caused by a balanced translocation producing haploinsufficiency for FGFR1. J Med Genet. 2005 Aug; 42(8):666-72.
journal title abbreviation: J Med Genet
publication date: 2005-08-01T00:00:00
year: 2005
type: Academic Article
type: Article
type: Document
type: Information Resource

Phase 2 Kp-10 for Dopamine Agonist Intolerant Hyperprolactinemia IND 74,977
end date: 2022-03-31
principal investigator name: SEMINARA, STEPHANIE BETH
start date: 2018-04-01
type: Grant
sponsor award id: R01FD005712

Principal Investigator
type: Researcher Role
researcher role of: Seminara, Stephanie
contributes to: Phase 2 Kp-10 for Dopamine Agonist Intolerant Hyperprolactinemia IND 74,977

Four naturally occurring mutations in the human GnRH receptor affect ligand binding and receptor function.
PubMed Identifier: 12890567
author list: Bédécarrats GY, Linher KD, Janovick JA, Beranova M, Kada F, Seminara SB, Michael Conn P, Kaiser UB
published in: Molecular and cellular endocrinology
information resource reference: Four naturally occurring mutations in the human GnRH receptor affect ligand binding and receptor function. Mol Cell Endocrinol. 2003 Jul 31; 205(1-2):51-64.
journal title abbreviation: Mol Cell Endocrinol
publication date: 2003-07-31T00:00:00
year: 2003
type: Academic Article
type: Article
type: Document
type: Information Resource

Authorship 1058724
type: Authorship
author rank in publication: 20
linked author: Seminara, Stephanie
linked information resource: The 3rd World Conference on Kisspeptin, "Kisspeptin 2017: Brain and Beyond":Unresolved questions, challenges and future directions for the field.

Authorship 1059154
type: Authorship
author rank in publication: 4
linked author: Seminara, Stephanie
linked information resource: Divergent responses to kisspeptin in children with delayed puberty.

Divergent responses to kisspeptin in children with delayed puberty.
PubMed Identifier: 29669934
author list: Chan YM, Lippincott MF, Kusa TO, Seminara SB
published in: JCI insight
information resource reference: Divergent responses to kisspeptin in children with delayed puberty. JCI Insight. 2018 04 19; 3(8).
journal title abbreviation: JCI Insight
publication date: 2018-04-19T00:00:00
year: 2018
type: Academic Article
type: Article
type: Document
type: Information Resource

The 3rd World Conference on Kisspeptin, "Kisspeptin 2017: Brain and Beyond":Unresolved questions, challenges and future directions for the field.
PubMed Identifier: 29656508
author list: Lehman MN, Coolen LM, Steiner RA, Neal-Perry G, Wang L, Moenter SM, Moore AM, Goodman RL, Hwa-Yeo S, Padilla SL, Kauffman AS, Garcia J, Kelly MJ, Clarkson J, Radovick S, Babwah AV, Leon S, Tena-Sempere M, Comninos A, Seminara S, Dhillo WS, Levine J, Terasawa E, Negron A, Herbison AE
published in: Journal of neuroendocrinology
information resource reference: The 3rd World Conference on Kisspeptin, "Kisspeptin 2017: Brain and Beyond":Unresolved questions, challenges and future directions for the field. J Neuroendocrinol. 2018 Apr 14; e12600.
journal title abbreviation: J Neuroendocrinol
publication date: 2018-04-14T00:00:00
year: 2018
type: Academic Article
type: Article
type: Document
type: Information Resource

Authorship 1061236
type: Authorship
author rank in publication: 3
linked author: Seminara, Stephanie
linked information resource: Role of Kisspeptin and Neurokinin B in Puberty in Female Non-Human Primates.

Role of Kisspeptin and Neurokinin B in Puberty in Female Non-Human Primates.
PubMed Identifier: 29681889
author list: Terasawa E, Garcia JP, Seminara SB, Keen KL
published in: Frontiers in endocrinology
information resource reference: Role of Kisspeptin and Neurokinin B in Puberty in Female Non-Human Primates. Front Endocrinol (Lausanne). 2018; 9:148.
journal title abbreviation: Front Endocrinol (Lausanne)
publication date: 2018-04-06T00:00:00
year: 2018
type: Academic Article
type: Article
type: Document
type: Information Resource

Decrease in hypothalamic Kiss1 and Kiss1r expression: a potential mechanism for fasting-induced suppression of the HPG axis in the adult male rhesus monkey (Macaca mulatta).
PubMed Identifier: 21154197
author list: Wahab F, Ullah F, Chan YM, Seminara SB, Shahab M
published in: Hormone and metabolic research = Hormon- und Stoffwechselforschung = Hormones et metabolisme
information resource reference: Decrease in hypothalamic Kiss1 and Kiss1r expression: a potential mechanism for fasting-induced suppression of the HPG axis in the adult male rhesus monkey (Macaca mulatta). Horm Metab Res. 2011 Feb; 43(2):81-5.
journal title abbreviation: Horm Metab Res
publication date: 2010-12-10T00:00:00
year: 2010
type: Academic Article
type: Article
type: Document
type: Information Resource

Heparan sulfate 6-O-sulfotransferase 1, a gene involved in extracellular sugar modifications, is mutated in patients with idiopathic hypogonadotrophic hypogonadism.
PubMed Identifier: 21700882
author list: Tornberg J, Sykiotis GP, Keefe K, Plummer L, Hoang X, Hall JE, Quinton R, Seminara SB, Hughes V, Van Vliet G, Van Uum S, Crowley WF, Habuchi H, Kimata K, Pitteloud N, Bülow HE
published in: Proceedings of the National Academy of Sciences of the United States of America
information resource reference: Heparan sulfate 6-O-sulfotransferase 1, a gene involved in extracellular sugar modifications, is mutated in patients with idiopathic hypogonadotrophic hypogonadism. Proc Natl Acad Sci U S A. 2011 Jul 12; 108(28):11524-9.
journal title abbreviation: Proc Natl Acad Sci U S A
publication date: 2011-06-23T00:00:00
year: 2011
type: Academic Article
type: Article
type: Document
type: Information Resource

Mechanisms of disease: the first kiss--a crucial role for kisspeptin-1 and its receptor, G protein coupled receptor 54, in puberty and reproduction
author list: Seminara SB
published in: Nature Clin Pract Endocrinol Med
information resource reference: Mechanisms of disease: the first kiss--a crucial role for kisspeptin-1 and its receptor, G protein coupled receptor 54, in puberty and reproduction. Nature Clin Pract Endocrinol Med. 2006; 2(6):328-334.
publication date: 2006-06-01T00:00:00
year: 2006
type: Academic Article
type: Article
type: Document
type: Information Resource

Digenic mutations account for variable phenotypes in idiopathic hypogonadotropic hypogonadism.
PubMed Identifier: 17235395
author list: Pitteloud N, Quinton R, Pearce S, Raivio T, Acierno J, Dwyer A, Plummer L, Hughes V, Seminara S, Cheng YZ, Li WP, Maccoll G, Eliseenkova AV, Olsen SK, Ibrahimi OA, Hayes FJ, Boepple P, Hall JE, Bouloux P, Mohammadi M, Crowley W
published in: The Journal of clinical investigation
information resource reference: Digenic mutations account for variable phenotypes in idiopathic hypogonadotropic hypogonadism. J Clin Invest. 2007 Feb; 117(2):457-63.
journal title abbreviation: J Clin Invest
publication date: 2007-01-18T00:00:00
year: 2007
type: Academic Article
type: Article
type: Document
type: Information Resource

Kisspeptin and GPR54: discovery of a novel pathway in reproduction.
PubMed Identifier: 18601695
author list: Seminara SB, Crowley WF
published in: Journal of neuroendocrinology
information resource reference: Kisspeptin and GPR54: discovery of a novel pathway in reproduction. J Neuroendocrinol. 2008 Jun; 20(6):727-31.
journal title abbreviation: J Neuroendocrinol
publication date: 2008-06-01T00:00:00
year: 2008
type: Academic Article
type: Article
type: Document
type: Information Resource

GNRH1 mutations in patients with idiopathic hypogonadotropic hypogonadism.
PubMed Identifier: 19567835
author list: Chan YM, de Guillebon A, Lang-Muritano M, Plummer L, Cerrato F, Tsiaras S, Gaspert A, Lavoie HB, Wu CH, Crowley WF, Amory JK, Pitteloud N, Seminara SB
published in: Proceedings of the National Academy of Sciences of the United States of America
information resource reference: GNRH1 mutations in patients with idiopathic hypogonadotropic hypogonadism. Proc Natl Acad Sci U S A. 2009 Jul 14; 106(28):11703-8.
journal title abbreviation: Proc Natl Acad Sci U S A
publication date: 2009-06-30T00:00:00
year: 2009
type: Academic Article
type: Article
type: Document
type: Information Resource

Deciphering genetic disease in the genomic era: the model of GnRH deficiency.
PubMed Identifier: 20484732
author list: Sykiotis GP, Pitteloud N, Seminara SB, Kaiser UB, Crowley WF
published in: Science translational medicine
information resource reference: Deciphering genetic disease in the genomic era: the model of GnRH deficiency. Sci Transl Med. 2010 May 19; 2(32):32rv2.
journal title abbreviation: Sci Transl Med
publication date: 2010-05-19T00:00:00
year: 2010
type: Academic Article
type: Article
type: Document
type: Information Resource

Kisspeptin and clinical disorders.
PubMed Identifier: 23550007
author list: Silveira LG, Latronico AC, Seminara SB
published in: Advances in experimental medicine and biology
information resource reference: Kisspeptin and clinical disorders. Adv Exp Med Biol. 2013; 784:187-99.
journal title abbreviation: Adv Exp Med Biol
publication date: 2013-01-01T00:00:00
year: 2013
type: Academic Article
type: Article
type: Document
type: Information Resource

Coding sequence analysis of GNRHR and GPR54 in patients with congenital and adult onset forms of hypogonadotropic hypogonadism
author list: Cerrato F, Shagoury J, Beranova M, Dwyer A, Falardeau J, Ozata M, VanVliet G, Bouloux PM, Hall JE, Hayes FJ, Pitteloud N, Welt C, Seminara SB
published in: Euro J Endocrinol
information resource reference: Coding sequence analysis of GNRHR and GPR54 in patients with congenital and adult onset forms of hypogonadotropic hypogonadism. Euro J Endocrinol. 2006; 155:S3-S10.
publication date: 2006-08-01T00:00:00
year: 2006
type: Academic Article
type: Article
type: Document
type: Information Resource

Precocious puberty associated with hypothalamic hamartomas correlates with anatomic features but not with expression of GnRH, TGFá, or KISS1
author list: Chan YM, Fenoglio KA, Paraschos S, Muhammad L, Troester MM, Ng YT, Johnsonbaugh RE, Coons SW, Prenger EC, Kerrigan JF, Seminara SB.
published in: Hormone Research
information resource reference: Precocious puberty associated with hypothalamic hamartomas correlates with anatomic features but not with expression of GnRH, TGFá, or KISS1. Hormone Research. 2009; (In press).
publication date: 2009-07-01T00:00:00
year: 2009
type: Academic Article
type: Article
type: Document
type: Information Resource

The role of the prokineticin 2 pathway in human reproduction: evidence from the study of human and murine gene mutations.
PubMed Identifier: 21037178
author list: Martin C, Balasubramanian R, Dwyer AA, Au MG, Sidis Y, Kaiser UB, Seminara SB, Pitteloud N, Zhou QY, Crowley WF
published in: Endocrine reviews
information resource reference: The role of the prokineticin 2 pathway in human reproduction: evidence from the study of human and murine gene mutations. Endocr Rev. 2011 Apr; 32(2):225-46.
journal title abbreviation: Endocr Rev
publication date: 2010-10-29T00:00:00
year: 2010
type: Academic Article
type: Article
type: Document
type: Information Resource

Responsiveness to a physiological regimen of GnRH therapy and relation to genotype in women with isolated hypogonadotropic hypogonadism.
PubMed Identifier: 23341491
author list: Abel BS, Shaw ND, Brown JM, Adams JM, Alati T, Martin KA, Pitteloud N, Seminara SB, Plummer L, Pignatelli D, Crowley WF, Welt CK, Hall JE
published in: The Journal of clinical endocrinology and metabolism
information resource reference: Responsiveness to a physiological regimen of GnRH therapy and relation to genotype in women with isolated hypogonadotropic hypogonadism. J Clin Endocrinol Metab. 2013 Feb; 98(2):E206-16.
journal title abbreviation: J Clin Endocrinol Metab
publication date: 2013-01-22T00:00:00
year: 2013
type: Academic Article
type: Article
type: Document
type: Information Resource

Changes of thyroid function during long-term hGH therapy in GHD children. A possible relationship with catch-up growth?
PubMed Identifier: 16372229
author list: Seminara S, Stagi S, Candura L, Scrivano M, Lenzi L, Nanni L, Pagliai F, Chiarelli F
published in: Hormone and metabolic research = Hormon- und Stoffwechselforschung = Hormones et metabolisme
information resource reference: Changes of thyroid function during long-term hGH therapy in GHD children. A possible relationship with catch-up growth? Horm Metab Res. 2005 Dec; 37(12):751-6.
journal title abbreviation: Horm Metab Res
publication date: 2005-12-01T00:00:00
year: 2005
type: Academic Article
type: Article
type: Document
type: Information Resource

Kisspeptin/Gpr54-independent GnRH activity in Kiss1 and Gpr54 mutant mice
author list: Chan YM, Broder-Fingert SB, Wong K, Seminara SB
published in: J Neuroendocrinology
information resource reference: Kisspeptin/Gpr54-independent GnRH activity in Kiss1 and Gpr54 mutant mice. J Neuroendocrinology. 2009; epub.
publication date: 2009-10-14T00:00:00
year: 2009
type: Academic Article
type: Article
type: Document
type: Information Resource

CHD7 mutations in patients initially diagnosed with Kallmann syndrome--the clinical overlap with CHARGE syndrome.
PubMed Identifier: 19021638
author list: Jongmans MC, van Ravenswaaij-Arts CM, Pitteloud N, Ogata T, Sato N, Claahsen-van der Grinten HL, van der Donk K, Seminara S, Bergman JE, Brunner HG, Crowley WF, Hoefsloot LH
published in: Clinical genetics
information resource reference: CHD7 mutations in patients initially diagnosed with Kallmann syndrome--the clinical overlap with CHARGE syndrome. Clin Genet. 2009 Jan; 75(1):65-71.
journal title abbreviation: Clin Genet
publication date: 2008-11-17T00:00:00
year: 2008
type: Academic Article
type: Article
type: Document
type: Information Resource

TAC3/TACR3 mutations reveal preferential activation of gonadotropin-releasing hormone release by neurokinin B in neonatal life followed by reversal in adulthood.
PubMed Identifier: 20332248
author list: Gianetti E, Tusset C, Noel SD, Au MG, Dwyer AA, Hughes VA, Abreu AP, Carroll J, Trarbach E, Silveira LF, Costa EM, de Mendonça BB, de Castro M, Lofrano A, Hall JE, Bolu E, Ozata M, Quinton R, Amory JK, Stewart SE, Arlt W, Cole TR, Crowley WF, Kaiser UB, Latronico AC, Seminara SB
published in: The Journal of clinical endocrinology and metabolism
information resource reference: TAC3/TACR3 mutations reveal preferential activation of gonadotropin-releasing hormone release by neurokinin B in neonatal life followed by reversal in adulthood. J Clin Endocrinol Metab. 2010 Jun; 95(6):2857-67.
journal title abbreviation: J Clin Endocrinol Metab
publication date: 2010-03-23T00:00:00
year: 2010
type: Academic Article
type: Article
type: Document
type: Information Resource

Authorship 1080921
type: Authorship
author rank in publication: 4
linked author: Seminara, Stephanie
linked information resource: Role of Kisspeptin and Neurokinin B Signaling in Male Rhesus Monkey Puberty.

Role of Kisspeptin and Neurokinin B Signaling in Male Rhesus Monkey Puberty.
PubMed Identifier: 29982393
author list: Garcia JP, Keen KL, Kenealy BP, Seminara SB, Terasawa E
published in: Endocrinology
information resource reference: Role of Kisspeptin and Neurokinin B Signaling in Male Rhesus Monkey Puberty. Endocrinology. 2018 08 01; 159(8):3048-3060.
journal title abbreviation: Endocrinology
publication date: 2018-08-01T00:00:00
year: 2018
type: Academic Article
type: Article
type: Document
type: Information Resource

Effect of treatment with cyproterone acetate on uterine bleeding at the beginning of GnRH analogue therapy in girls with idiopathic central precocious puberty.
PubMed Identifier: 20389110
author list: Seminara S, Nanni L, Generoso M, Mirri S, Leonardi V, Slabadzianiuk T, Vetrano ML, Buongiorno A, Losi S, Galluzzi F
published in: Hormone research in paediatrics
information resource reference: Effect of treatment with cyproterone acetate on uterine bleeding at the beginning of GnRH analogue therapy in girls with idiopathic central precocious puberty. Horm Res Paediatr. 2010; 73(5):386-9.
journal title abbreviation: Horm Res Paediatr
publication date: 2010-04-14T00:00:00
year: 2010
type: Academic Article
type: Article
type: Document
type: Information Resource

Uncovering novel reproductive defects in neurokinin B receptor null mice: closing the gap between mice and men.
PubMed Identifier: 22253416
author list: Yang JJ, Caligioni CS, Chan YM, Seminara SB
published in: Endocrinology
information resource reference: Uncovering novel reproductive defects in neurokinin B receptor null mice: closing the gap between mice and men. Endocrinology. 2012 Mar; 153(3):1498-508.
journal title abbreviation: Endocrinology
publication date: 2012-01-17T00:00:00
year: 2012
type: Academic Article
type: Article
type: Document
type: Information Resource

Kisspeptin and the hypothalamic control of reproduction: lessons from the human.
PubMed Identifier: 23015291
author list: George JT, Seminara SB
published in: Endocrinology
information resource reference: Kisspeptin and the hypothalamic control of reproduction: lessons from the human. Endocrinology. 2012 Nov; 153(11):5130-6.
journal title abbreviation: Endocrinology
publication date: 2012-09-26T00:00:00
year: 2012
type: Academic Article
type: Article
type: Document
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Mutational analysis of TAC3 and TACR3 genes in patients with idiopathic central pubertal disorders.
PubMed Identifier: 23329188
author list: Tusset C, Noel SD, Trarbach EB, Silveira LF, Jorge AA, Brito VN, Cukier P, Seminara SB, Mendonça BB, Kaiser UB, Latronico AC
published in: Arquivos brasileiros de endocrinologia e metabologia
information resource reference: Mutational analysis of TAC3 and TACR3 genes in patients with idiopathic central pubertal disorders. Arq Bras Endocrinol Metabol. 2012 Dec; 56(9):646-52.
journal title abbreviation: Arq Bras Endocrinol Metabol
publication date: 2012-12-01T00:00:00
year: 2012
type: Academic Article
type: Article
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Kisspeptin administration to women: a window into endogenous kisspeptin secretion and GnRH responsiveness across the menstrual cycle.
PubMed Identifier: 22577171
author list: Chan YM, Butler JP, Sidhoum VF, Pinnell NE, Seminara SB
published in: The Journal of clinical endocrinology and metabolism
information resource reference: Kisspeptin administration to women: a window into endogenous kisspeptin secretion and GnRH responsiveness across the menstrual cycle. J Clin Endocrinol Metab. 2012 Aug; 97(8):E1458-67.
journal title abbreviation: J Clin Endocrinol Metab
publication date: 2012-05-10T00:00:00
year: 2012
type: Academic Article
type: Article
type: Document
type: Information Resource

Kisspeptin and KISS1R: a critical pathway in the reproductive system.
PubMed Identifier: 18515314
author list: Gianetti E, Seminara S
published in: Reproduction (Cambridge, England)
information resource reference: Kisspeptin and KISS1R: a critical pathway in the reproductive system. Reproduction. 2008 Sep; 136(3):295-301.
journal title abbreviation: Reproduction
publication date: 2008-05-30T00:00:00
year: 2008
type: Academic Article
type: Article
type: Document
type: Information Resource

Central precocious puberty due to hypothalamic hamartomas correlates with anatomic features but not with expression of GnRH, TGFalpha, or KISS1.
PubMed Identifier: 20389100
author list: Chan YM, Fenoglio-Simeone KA, Paraschos S, Muhammad L, Troester MM, Ng YT, Johnsonbaugh RE, Coons SW, Prenger EC, Kerrigan JF, Seminara SB
published in: Hormone research in paediatrics
information resource reference: Central precocious puberty due to hypothalamic hamartomas correlates with anatomic features but not with expression of GnRH, TGFalpha, or KISS1. Horm Res Paediatr. 2010; 73(5):312-9.
journal title abbreviation: Horm Res Paediatr
publication date: 2010-04-14T00:00:00
year: 2010
type: Academic Article
type: Article
type: Document
type: Information Resource

Human GnRH deficiency: a unique disease model to unravel the ontogeny of GnRH neurons.
PubMed Identifier: 20606386
author list: Balasubramanian R, Dwyer A, Seminara SB, Pitteloud N, Kaiser UB, Crowley WF
published in: Neuroendocrinology
information resource reference: Human GnRH deficiency: a unique disease model to unravel the ontogeny of GnRH neurons. Neuroendocrinology. 2010; 92(2):81-99.
journal title abbreviation: Neuroendocrinology
publication date: 2010-07-07T00:00:00
year: 2010
type: Academic Article
type: Article
type: Document
type: Information Resource

Authorship 1094122
type: Authorship
author rank in publication: 14
linked author: Seminara, Stephanie
linked information resource: Large-scale meta-analysis highlights the hypothalamic-pituitary-gonadal axis in the genetic regulation of menstrual cycle length.

Large-scale meta-analysis highlights the hypothalamic-pituitary-gonadal axis in the genetic regulation of menstrual cycle length.
PubMed Identifier: 30202859
author list: Laisk T, Kukuškina V, Palmer D, Laber S, Chen CY, Ferreira T, Rahmioglu N, Zondervan K, Becker C, Smoller JW, Lippincott M, Salumets A, Granne I, Seminara S, Neale B, Mägi R, Lindgren CM
published in: Human molecular genetics
information resource reference: Large-scale meta-analysis highlights the hypothalamic-pituitary-gonadal axis in the genetic regulation of menstrual cycle length. Hum Mol Genet. 2018 12 15; 27(24):4323-4332.
journal title abbreviation: Hum Mol Genet
publication date: 2018-12-15T00:00:00
year: 2018
type: Academic Article
type: Article
type: Document
type: Information Resource

We all remember our first kiss: kisspeptin and the male gonadal axis.
PubMed Identifier: 16330809
author list: Seminara SB
published in: The Journal of clinical endocrinology and metabolism
information resource reference: We all remember our first kiss: kisspeptin and the male gonadal axis. J Clin Endocrinol Metab. 2005 Dec; 90(12):6738-40.
journal title abbreviation: J Clin Endocrinol Metab
publication date: 2005-12-01T00:00:00
year: 2005
type: Academic Article
type: Article
type: Document
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A GPR54-activating mutation in a patient with central precocious puberty.
PubMed Identifier: 18272894
author list: Teles MG, Bianco SD, Brito VN, Trarbach EB, Kuohung W, Xu S, Seminara SB, Mendonca BB, Kaiser UB, Latronico AC
published in: The New England journal of medicine
information resource reference: A GPR54-activating mutation in a patient with central precocious puberty. N Engl J Med. 2008 Feb 14; 358(7):709-15.
journal title abbreviation: N Engl J Med
publication date: 2008-02-14T00:00:00
year: 2008
type: Academic Article
type: Article
type: Document
type: Information Resource

Authorship 106817
type: Authorship
author rank in publication: 1
linked author: Seminara, Stephanie
linked information resource: Converging at puberty's hub.

Expanding the phenotype and genotype of female GnRH deficiency.
PubMed Identifier: 21209029
author list: Shaw ND, Seminara SB, Welt CK, Au MG, Plummer L, Hughes VA, Dwyer AA, Martin KA, Quinton R, Mericq V, Merino PM, Gusella JF, Crowley WF, Pitteloud N, Hall JE
published in: The Journal of clinical endocrinology and metabolism
information resource reference: Expanding the phenotype and genotype of female GnRH deficiency. J Clin Endocrinol Metab. 2011 Mar; 96(3):E566-76.
journal title abbreviation: J Clin Endocrinol Metab
publication date: 2011-01-05T00:00:00
year: 2011
type: Academic Article
type: Article
type: Document
type: Information Resource

Olfactory phenotypic spectrum in idiopathic hypogonadotropic hypogonadism: pathophysiological and genetic implications.
PubMed Identifier: 22072740
author list: Lewkowitz-Shpuntoff HM, Hughes VA, Plummer L, Au MG, Doty RL, Seminara SB, Chan YM, Pitteloud N, Crowley WF, Balasubramanian R
published in: The Journal of clinical endocrinology and metabolism
information resource reference: Olfactory phenotypic spectrum in idiopathic hypogonadotropic hypogonadism: pathophysiological and genetic implications. J Clin Endocrinol Metab. 2012 Jan; 97(1):E136-44.
journal title abbreviation: J Clin Endocrinol Metab
publication date: 2011-11-09T00:00:00
year: 2011
type: Academic Article
type: Article
type: Document
type: Information Resource

Physicians' Information and Education Resource (PIER)
author list: Seminara SB, Hall JE
published in: Physicians' Information and Education Resource (PIER)
information resource reference: Physicians' Information and Education Resource (PIER). 2001.
publication date: 2001-01-01T00:00:00
year: 2001
type: Academic Article
type: Article
type: Document
type: Information Resource

Authorship 1114387
type: Authorship
author rank in publication: 5
linked author: Seminara, Stephanie
linked information resource: Assessing Sex Steroid Influence on Kisspeptin Responsiveness in Idiopathic Hypogonadotropic Hypogonadism.

Assessing Sex Steroid Influence on Kisspeptin Responsiveness in Idiopathic Hypogonadotropic Hypogonadism.
PubMed Identifier: 30430143
author list: Lippincott MF, Nguyen K, Delaney A, Chan YM, Seminara SB
published in: Journal of the Endocrine Society
information resource reference: Assessing Sex Steroid Influence on Kisspeptin Responsiveness in Idiopathic Hypogonadotropic Hypogonadism. J Endocr Soc. 2018 Nov 01; 2(11):1293-1305.
journal title abbreviation: J Endocr Soc
publication date: 2018-09-20T00:00:00
year: 2018
type: Academic Article
type: Article
type: Document
type: Information Resource

Hypogonadotropic hypogonadism and cerebellar ataxia: detailed phenotypic characterization of a large, extended kindred.
PubMed Identifier: 11932290
author list: Seminara SB, Acierno JS, Abdulwahid NA, Crowley WF, Margolin DH
published in: The Journal of clinical endocrinology and metabolism
information resource reference: Hypogonadotropic hypogonadism and cerebellar ataxia: detailed phenotypic characterization of a large, extended kindred. J Clin Endocrinol Metab. 2002 Apr; 87(4):1607-12.
journal title abbreviation: J Clin Endocrinol Metab
publication date: 2002-04-01T00:00:00
year: 2002
type: Academic Article
type: Article
type: Document
type: Information Resource

A locus for autosomal recessive idiopathic hypogonadotropic hypogonadism on chromosome 19p13.3.
PubMed Identifier: 12788910
author list: Acierno JS, Shagoury JK, Bo-Abbas Y, Crowley WF, Seminara SB
published in: The Journal of clinical endocrinology and metabolism
information resource reference: A locus for autosomal recessive idiopathic hypogonadotropic hypogonadism on chromosome 19p13.3. J Clin Endocrinol Metab. 2003 Jun; 88(6):2947-50.
journal title abbreviation: J Clin Endocrinol Metab
publication date: 2003-06-01T00:00:00
year: 2003
type: Academic Article
type: Article
type: Document
type: Information Resource

Unbiased transmission of mutant alleles at the human retinoblastoma locus.
PubMed Identifier: 8005586
author list: Seminara SB, Dryja TP
published in: Human genetics
information resource reference: Unbiased transmission of mutant alleles at the human retinoblastoma locus. Hum Genet. 1994 Jun; 93(6):629-34.
journal title abbreviation: Hum Genet
publication date: 1994-06-01T00:00:00
year: 1994
type: Academic Article
type: Article
type: Document
type: Information Resource

Lack of association of hypogonadotropic genes with age at menarche: prospects for the future.
PubMed Identifier: 18987281
author list: Seminara SB
published in: The Journal of clinical endocrinology and metabolism
information resource reference: Lack of association of hypogonadotropic genes with age at menarche: prospects for the future. J Clin Endocrinol Metab. 2008 Nov; 93(11):4224-5.
journal title abbreviation: J Clin Endocrinol Metab
publication date: 2008-11-01T00:00:00
year: 2008
type: Academic Article
type: Article
type: Document
type: Information Resource

https://connects.catalyst.harvard.edu/Profiles/profile/1160381
PubMed Identifier: 8855795
author list: Nachtigall LB, Boepple PA, Seminara SB, Khoury RH, Sluss PM, Lecain AE, Crowley WF
published in: The Journal of clinical endocrinology and metabolism
information resource reference: Inhibin B secretion in males with gonadotropin-releasing hormone (GnRH) deficiency before and during long-term GnRH replacement: relationship to spontaneous puberty, testicular volume, and prior treatment--a clinical research center study. J Clin Endocrinol Metab. 1996 Oct; 81(10):3520-5.
journal title abbreviation: J Clin Endocrinol Metab
publication date: 1996-10-01T00:00:00
year: 1996
type: Academic Article
type: Article
type: Document
type: Information Resource
label: Inhibin B secretion in males with gonadotropin-releasing hormone (GnRH) deficiency before and during long-term GnRH replacement: relationship to spontaneous puberty, testicular volume, and prior treatment--a clinical research center study.

The genetic and clinical heterogeneity of gonadotropin-releasing hormone deficiency in the human.
PubMed Identifier: 8954047
author list: Waldstreicher J, Seminara SB, Jameson JL, Geyer A, Nachtigall LB, Boepple PA, Holmes LB, Crowley WF
published in: The Journal of clinical endocrinology and metabolism
information resource reference: The genetic and clinical heterogeneity of gonadotropin-releasing hormone deficiency in the human. J Clin Endocrinol Metab. 1996 Dec; 81(12):4388-95.
journal title abbreviation: J Clin Endocrinol Metab
publication date: 1996-12-01T00:00:00
year: 1996
type: Academic Article
type: Article
type: Document
type: Information Resource

Hypogonadotropic hypogonadism: A unique biologic opportunity
author list: Seminara SB, Crowley Jr WF
published in: Clin Endocrinol.
information resource reference: Hypogonadotropic hypogonadism: A unique biologic opportunity. Clin Endocrinol. 1999; 51:385-386.
publication date: 1999-01-01T00:00:00
year: 1999
type: Academic Article
type: Article
type: Document
type: Information Resource

Authorship 10781
type: Authorship
author rank in publication: 14
linked author: Seminara, Stephanie
linked information resource: Prevalence, phenotypic spectrum, and modes of inheritance of gonadotropin-releasing hormone receptor mutations in idiopathic hypogonadotropic hypogonadism.

Hypogonadism
MeSH DescriptorUI: D007006
MeSH semantic group name: Disorders
number of authors: 202
number of publications: 813
uniqueness weight: 0.622758
type: Concept

Reproduction
MeSH DescriptorUI: D012098
MeSH semantic group name: Concepts & Ideas
MeSH semantic group name: Physiology
number of authors: 359
number of publications: 665
uniqueness weight: 0.703241
type: Concept

Gonadotropin-Releasing Hormone
MeSH DescriptorUI: D007987
MeSH semantic group name: Chemicals & Drugs
number of authors: 257
number of publications: 1133
uniqueness weight: 0.651726
type: Concept

Authorship 120475
type: Authorship
author rank in publication: 1
linked author: Seminara, Stephanie
linked information resource: Metastin and its G protein-coupled receptor, GPR54: critical pathway modulating GnRH secretion.

Luteinizing Hormone
MeSH DescriptorUI: D007986
MeSH semantic group name: Chemicals & Drugs
number of authors: 224
number of publications: 816
uniqueness weight: 0.808605
type: Concept

Reproductive Endocrine Unit
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Authorship 119050
type: Authorship
author rank in publication: 5
linked author: Seminara, Stephanie
linked information resource: The role of prior pubertal development, biochemical markers of testicular maturation, and genetics in elucidating the phenotypic heterogeneity of idiopathic hypogonadotropic hypogonadism.

Neurokinin B
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MeSH semantic group name: Chemicals & Drugs
number of authors: 23
number of publications: 66
uniqueness weight: 0.941136
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Medicine
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Pediatrics
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Cardiology
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type: Organization

Endocrinology
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type: Organization

Infectious Disease
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Brigham and Women's Hospital
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Boston Children's Hospital
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Massachusetts General Hospital
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Hucker, William
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Crowley, William
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Kaiser, Ursula
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Authorship 1157157
type: Authorship
author rank in publication: 15
linked author: Seminara, Stephanie
linked information resource: Hypothalamic Reproductive Endocrine Pulse Generator Activity Independent of Neurokinin B and Dynorphin Signaling.

Authorship 1156901
type: Authorship
author rank in publication: 4
linked author: Seminara, Stephanie
linked information resource: Paediatric and adult-onset male hypogonadism.

Hypothalamic Reproductive Endocrine Pulse Generator Activity Independent of Neurokinin B and Dynorphin Signaling.
PubMed Identifier: 31132118
author list: Lippincott MF, León S, Chan YM, Fergani C, Talbi R, Farooqi IS, Jones CM, Arlt W, Stewart SE, Cole TR, Terasawa E, Hall JE, Shaw ND, Navarro VM, Seminara SB
published in: The Journal of clinical endocrinology and metabolism
information resource reference: Hypothalamic Reproductive Endocrine Pulse Generator Activity Independent of Neurokinin B and Dynorphin Signaling. J Clin Endocrinol Metab. 2019 10 01; 104(10):4304-4318.
journal title abbreviation: J Clin Endocrinol Metab
publication date: 2019-10-01T00:00:00
year: 2019
type: Academic Article
type: Article
type: Document
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Paediatric and adult-onset male hypogonadism.
PubMed Identifier: 31147553
author list: Salonia A, Rastrelli G, Hackett G, Seminara SB, Huhtaniemi IT, Rey RA, Hellstrom WJG, Palmert MR, Corona G, Dohle GR, Khera M, Chan YM, Maggi M
published in: Nature reviews. Disease primers
information resource reference: Paediatric and adult-onset male hypogonadism. Nat Rev Dis Primers. 2019 May 30; 5(1):38.
journal title abbreviation: Nat Rev Dis Primers
publication date: 2019-05-30T00:00:00
year: 2019
type: Academic Article
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type: Document
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Chan, Yee-Ming
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Hayes, Frances
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Balasubramanian, Ravikumar
eCommons Login: RB133
first name: Ravikumar
last name: Balasubramanian
full name: Ravikumar Balasubramanian, M.B.,B.S.
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latitude: 42.36241700000000
longitude: -71.06893700000000
Person ID: 19063
person in primary position: Associate Professor of Medicine
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Authorship 1164082
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author rank in publication: 6
linked author: Seminara, Stephanie
linked information resource: Functional Hypogonadotropic Hypogonadism in Men: Underlying Neuroendocrine Mechanisms and Natural History.

Functional Hypogonadotropic Hypogonadism in Men: Underlying Neuroendocrine Mechanisms and Natural History.
PubMed Identifier: 31220265
author list: Dwyer AA, Chavan NR, Lewkowitz-Shpuntoff H, Plummer L, Hayes FJ, Seminara SB, Crowley WF, Pitteloud N, Balasubramanian R
published in: The Journal of clinical endocrinology and metabolism
information resource reference: Functional Hypogonadotropic Hypogonadism in Men: Underlying Neuroendocrine Mechanisms and Natural History. J Clin Endocrinol Metab. 2019 08 01; 104(8):3403-3414.
journal title abbreviation: J Clin Endocrinol Metab
publication date: 2019-08-01T00:00:00
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type: Academic Article
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type: Document
type: Information Resource

Charles, Richelle
eCommons Login: RCC11
first name: Richelle
last name: Charles
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Navarro, Victor
eCommons Login: VMN7
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person in primary position: Associate Professor of Medicine
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Authorship 139275
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linked author: Seminara, Stephanie
linked information resource: Human genetics of GPR54.

Bhasin, Shalender
eCommons Login: SB345
first name: Shalender
last name: Bhasin
full name: Shalender Bhasin, M.B.,B.S.
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Authorship 145741
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author rank in publication: 1
linked author: Seminara, Stephanie
linked information resource: Hypogonadotrophic hypogonadism: a unique biological opportunity.

Instructor in Medicine
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Professor of Medicine
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Authorship 122626
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author rank in publication: 5
linked author: Seminara, Stephanie
linked information resource: Autosomal recessive idiopathic hypogonadotropic hypogonadism: genetic analysis excludes mutations in the gonadotropin-releasing hormone (GnRH) and GnRH receptor genes.

Authorship 145966
type: Authorship
author rank in publication: 7
linked author: Seminara, Stephanie
linked information resource: The role of the prokineticin 2 pathway in human reproduction: evidence from the study of human and murine gene mutations.

Authorship 1210852
type: Authorship
author rank in publication: 3
linked author: Seminara, Stephanie
linked information resource: Role of Kisspeptin and NKB in Puberty in Nonhuman Primates: Sex Differences.

Role of Kisspeptin and NKB in Puberty in Nonhuman Primates: Sex Differences.
PubMed Identifier: 31847024
author list: Garcia JP, Keen KL, Seminara SB, Terasawa E
published in: Seminars in reproductive medicine
information resource reference: Role of Kisspeptin and NKB in Puberty in Nonhuman Primates: Sex Differences. Semin Reprod Med. 2019 03; 37(2):47-55.
journal title abbreviation: Semin Reprod Med
publication date: 2019-12-17T00:00:00
year: 2019
type: Academic Article
type: Article
type: Document
type: Information Resource

Authorship 1222953
type: Authorship
author rank in publication: 40
linked author: Seminara, Stephanie
linked information resource: Insight Into the Ontogeny of GnRH Neurons From Patients Born Without a Nose.

Insight Into the Ontogeny of GnRH Neurons From Patients Born Without a Nose.
PubMed Identifier: 32034419
author list: Delaney A, Volochayev R, Meader B, Lee J, Almpani K, Noukelak GY, Henkind J, Chalmers L, Law JR, Williamson KA, Jacobsen CM, Buitrago TP, Perez O, Cho CH, Kaindl A, Rauch A, Steindl K, Garcia JE, Russell BE, Prasad R, Mondal UK, Reigstad HM, Clements S, Kim S, Inoue K, Arora G, Salnikov KB, DiOrio NP, Prada R, Capri Y, Morioka K, Mizota M, Zechi-Ceide RM, Kokitsu-Nakata NM, Tonello C, Vendramini-Pittoli S, da Silva Dalben G, Balasubramanian R, Dwyer AA, Seminara SB, Crowley WF, Plummer L, Hall JE, Graham JM, Lin AE, Shaw ND
published in: The Journal of clinical endocrinology and metabolism
information resource reference: Insight Into the Ontogeny of GnRH Neurons From Patients Born Without a Nose. J Clin Endocrinol Metab. 2020 05 01; 105(5).
journal title abbreviation: J Clin Endocrinol Metab
publication date: 2020-05-01T00:00:00
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type: Academic Article
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Authorship 175118
type: Authorship
author rank in publication: 11
linked author: Seminara, Stephanie
linked information resource: A genetic basis for functional hypothalamic amenorrhea.

Authorship 170672
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author rank in publication: 1
linked author: Seminara, Stephanie
linked information resource: The genetics of IHH--a paradox.

Authorship 164981
type: Authorship
author rank in publication: 11
linked author: Seminara, Stephanie
linked information resource: Oligogenic basis of isolated gonadotropin-releasing hormone deficiency.

Authorship 1237124
type: Authorship
author rank in publication: 10
linked author: Seminara, Stephanie
linked information resource: Using Kisspeptin to Predict Pubertal Outcomes for Youth With Pubertal Delay.

Using Kisspeptin to Predict Pubertal Outcomes for Youth With Pubertal Delay.
PubMed Identifier: 32232399
author list: Chan YM, Lippincott MF, Sales Barroso P, Alleyn C, Brodsky J, Granados H, Roberts SA, Sandler C, Srivatsa A, Seminara SB
published in: The Journal of clinical endocrinology and metabolism
information resource reference: Using Kisspeptin to Predict Pubertal Outcomes for Youth With Pubertal Delay. J Clin Endocrinol Metab. 2020 08 01; 105(8).
journal title abbreviation: J Clin Endocrinol Metab
publication date: 2020-08-01T00:00:00
year: 2020
type: Academic Article
type: Article
type: Document
type: Information Resource

Authorship 1243916
type: Authorship
author rank in publication: 16
linked author: Seminara, Stephanie
linked information resource: DLG2 variants in patients with pubertal disorders.

DLG2 variants in patients with pubertal disorders.
PubMed Identifier: 32341572
author list: Jee YH, Won S, Lui JC, Jennings M, Whalen P, Yue S, Temnycky AG, Barnes KM, Cheetham T, Boden MG, Radovick S, Quinton R, Leschek EW, Aguilera G, Yanovski JA, Seminara SB, Crowley WF, Delaney A, Roche KW, Baron J
published in: Genetics in medicine : official journal of the American College of Medical Genetics
information resource reference: DLG2 variants in patients with pubertal disorders. Genet Med. 2020 08; 22(8):1329-1337.
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Authorship 173011
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author rank in publication: 9
linked author: Seminara, Stephanie
linked information resource: Digenic mutations account for variable phenotypes in idiopathic hypogonadotropic hypogonadism.

Authorship 1244944
type: Authorship
author rank in publication: 6
linked author: Seminara, Stephanie
linked information resource: Hypogonadotropic hypogonadism due to variants in RAB3GAP2: expanding the phenotypic and genotypic spectrum of Martsolf syndrome.

Hypogonadotropic hypogonadism due to variants in RAB3GAP2: expanding the phenotypic and genotypic spectrum of Martsolf syndrome.
PubMed Identifier: 32376645
author list: Xu W, Plummer L, Quinton R, Swords F, Crowley WF, Seminara SB, Balasubramanian R
published in: Cold Spring Harbor molecular case studies
information resource reference: Hypogonadotropic hypogonadism due to variants in RAB3GAP2: expanding the phenotypic and genotypic spectrum of Martsolf syndrome. Cold Spring Harb Mol Case Stud. 2020 06; 6(3).
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type: Academic Article
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Authorship 1254751
type: Authorship
author rank in publication: 6
linked author: Seminara, Stephanie
linked information resource: Tachykinin Signaling Is Required for Induction of the Preovulatory Luteinizing Hormone Surge and Normal Luteinizing Hormone Pulses.

Tachykinin Signaling Is Required for Induction of the Preovulatory Luteinizing Hormone Surge and Normal Luteinizing Hormone Pulses.
PubMed Identifier: 32512561
author list: León S, Fergani C, Talbi R, Maguire CA, Gerutshang A, Seminara SB, Navarro VM
published in: Neuroendocrinology
information resource reference: Tachykinin Signaling Is Required for Induction of the Preovulatory Luteinizing Hormone Surge and Normal Luteinizing Hormone Pulses. Neuroendocrinology. 2021; 111(6):542-554.
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Authorship 149321
type: Authorship
author rank in publication: 4
linked author: Seminara, Stephanie
linked information resource: Peripheral and central hypomyelination with hypogonadotropic hypogonadism and hypodontia.

Authorship 1282620
type: Authorship
author rank in publication: 14
linked author: Seminara, Stephanie
linked information resource: Increased Burden of Rare Sequence Variants in GnRH-Associated Genes in Women With Hypothalamic Amenorrhea.

Increased Burden of Rare Sequence Variants in GnRH-Associated Genes in Women With Hypothalamic Amenorrhea.
PubMed Identifier: 32870266
author list: Delaney A, Burkholder AB, Lavender CA, Plummer L, Mericq V, Merino PM, Quinton R, Lewis KL, Meader BN, Albano A, Shaw ND, Welt CK, Martin KA, Seminara SB, Biesecker LG, Bailey-Wilson JE, Hall JE
published in: The Journal of clinical endocrinology and metabolism
information resource reference: Increased Burden of Rare Sequence Variants in GnRH-Associated Genes in Women With Hypothalamic Amenorrhea. J Clin Endocrinol Metab. 2021 03 08; 106(3):e1441-e1452.
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Towards Curative Therapies for Hypogonadotropic Diseases
end date: 2030-05-31
principal investigator name: SEMINARA, STEPHANIE BETH
start date: 2003-04-01
type: Grant
sponsor award id: R37HD043341

Principal Investigator
type: Researcher Role
researcher role of: Seminara, Stephanie
contributes to: Towards Curative Therapies for Hypogonadotropic Diseases

Authorship 1296102
type: Authorship
author rank in publication: 7
linked author: Seminara, Stephanie
linked information resource: Kisspeptin deficiency leads to abnormal adrenal glands and excess steroid hormone secretion.

Authorship 1298102
type: Authorship
author rank in publication: 7
linked author: Seminara, Stephanie
linked information resource: Evaluating co-created patient-facing materials to increase understanding of genetic test results.

Kisspeptin deficiency leads to abnormal adrenal glands and excess steroid hormone secretion.
PubMed Identifier: 33089319
author list: Berthon A, Settas N, Delaney A, Giannakou A, Demidowich A, Faucz FR, Seminara SB, Chen ME, Stratakis CA
published in: Human molecular genetics
information resource reference: Kisspeptin deficiency leads to abnormal adrenal glands and excess steroid hormone secretion. Hum Mol Genet. 2020 12 18; 29(20):3443-3450.
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type: Academic Article
type: Article
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Evaluating co-created patient-facing materials to increase understanding of genetic test results.
PubMed Identifier: 33098367
author list: Dwyer AA, Au MG, Smith N, Plummer L, Lippincott MF, Balasubramanian R, Seminara SB
published in: Journal of genetic counseling
information resource reference: Evaluating co-created patient-facing materials to increase understanding of genetic test results. J Genet Couns. 2021 04; 30(2):598-605.
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Associate Professor of Medicine
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position in department: Medicine
position in division: Endocrinology
sort order: 1
type: Position
HR job title: Associate Professor of Medicine
position in organization: Brigham and Women's Hospital

Authorship 1305823
type: Authorship
author rank in publication: 38
linked author: Seminara, Stephanie
linked information resource: The genetic architecture of sporadic and multiple consecutive miscarriage.

The genetic architecture of sporadic and multiple consecutive miscarriage.
PubMed Identifier: 33239672
author list: Laisk T, Soares ALG, Ferreira T, Painter JN, Censin JC, Laber S, Bacelis J, Chen CY, Lepamets M, Lin K, Liu S, Millwood IY, Ramu A, Southcombe J, Andersen MS, Yang L, Becker CM, Børglum AD, Gordon SD, Bybjerg-Grauholm J, Helgeland Ø, Hougaard DM, Jin X, Johansson S, Juodakis J, Kartsonaki C, Kukushkina V, Lind PA, Metspalu A, Montgomery GW, Morris AP, Mors O, Mortensen PB, Njølstad PR, Nordentoft M, Nyholt DR, Lippincott M, Seminara S, Salumets A, Snieder H, Zondervan K, Werge T, Chen Z, Conrad DF, Jacobsson B, Li L, Martin NG, Neale BM, Nielsen R, Walters RG, Granne I, Medland SE, Mägi R, Lawlor DA, Lindgren CM
published in: Nature communications
information resource reference: The genetic architecture of sporadic and multiple consecutive miscarriage. Nat Commun. 2020 11 25; 11(1):5980.
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Authorship 146984
type: Authorship
author rank in publication: 6
linked author: Seminara, Stephanie
linked information resource: Hypogonadotropic hypogonadism and cleft lip and palate caused by a balanced translocation producing haploinsufficiency for FGFR1.

Authorship 1320302
type: Authorship
author rank in publication: 16
linked author: Seminara, Stephanie
linked information resource: Phenotypic continuum between Waardenburg syndrome and idiopathic hypogonadotropic hypogonadism in humans with SOX10 variants.

Phenotypic continuum between Waardenburg syndrome and idiopathic hypogonadotropic hypogonadism in humans with SOX10 variants.
PubMed Identifier: 33442024
author list: Rojas RA, Kutateladze AA, Plummer L, Stamou M, Keefe DL, Salnikov KB, Delaney A, Hall JE, Sadreyev R, Ji F, Fliers E, Gambosova K, Quinton R, Merino PM, Mericq V, Seminara SB, Crowley WF, Balasubramanian R
published in: Genetics in medicine : official journal of the American College of Medical Genetics
information resource reference: Phenotypic continuum between Waardenburg syndrome and idiopathic hypogonadotropic hypogonadism in humans with SOX10 variants. Genet Med. 2021 04; 23(4):629-636.
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type: Academic Article
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Authorship 149441
type: Authorship
author rank in publication: 4
linked author: Seminara, Stephanie
linked information resource: Uncovering novel reproductive defects in neurokinin B receptor null mice: closing the gap between mice and men.

Authorship 1364927
type: Authorship
author rank in publication: 3
linked author: Seminara, Stephanie
linked information resource: Safety Evaluation of KP-10 (Metastin 45-54) Following once Daily Intravenous Administration for 14 Days in Dog.

Safety Evaluation of KP-10 (Metastin 45-54) Following once Daily Intravenous Administration for 14 Days in Dog.
PubMed Identifier: 34126799
author list: Terse PS, Peggins J, Seminara SB
published in: International journal of toxicology
information resource reference: Safety Evaluation of KP-10 (Metastin 45-54) Following once Daily Intravenous Administration for 14 Days in Dog. Int J Toxicol. 2021 Jul-Aug; 40(4):337-343.
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publication date: 2021-06-14T00:00:00
year: 2021
type: Academic Article
type: Article
type: Document
type: Information Resource

The Massachusetts General Hospital Harvard Center for Reproductive Medicine
end date: 2026-03-31
principal investigator name: SEMINARA, STEPHANIE BETH
start date: 2021-08-10
type: Grant
sponsor award id: P50HD104224

Principal Investigator
type: Researcher Role
researcher role of: Seminara, Stephanie
contributes to: The Massachusetts General Hospital Harvard Center for Reproductive Medicine

Daniel K. Podolsky Distinguished Professor of Medicine
is primary position: true
position in department: Medicine
position in division: Reproductive Endocrine Unit
sort order: 1
type: Position
HR job title: Daniel K. Podolsky Distinguished Professor of Medicine
position in organization: Massachusetts General Hospital

Authorship 1423453
type: Authorship
author rank in publication: 1
linked author: Seminara, Stephanie
linked information resource: Review of human genetic and clinical studies directly relevant to GnRH signalling.

Review of human genetic and clinical studies directly relevant to GnRH signalling.
PubMed Identifier: 34970798
author list: Seminara SB, Topaloglu AK
published in: Journal of neuroendocrinology
information resource reference: Review of human genetic and clinical studies directly relevant to GnRH signalling. J Neuroendocrinol. 2022 05; 34(5):e13080.
journal title abbreviation: J Neuroendocrinol
publication date: 2021-12-31T00:00:00
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type: Academic Article
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type: Document
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Authorship 244419
type: Authorship
author rank in publication: 1
linked author: Seminara, Stephanie
linked information resource: The Reproductive Endocrine Associates of the Massachusetts General Hospital: fifteen years of integrated clinical practice and investigation.

Authorship 1440636
type: Authorship
author rank in publication: 7
linked author: Seminara, Stephanie
linked information resource: Kisspeptin Overcomes GnRH Neuronal Suppression Secondary to Hyperprolactinemia in Humans.

Kisspeptin Overcomes GnRH Neuronal Suppression Secondary to Hyperprolactinemia in Humans.
PubMed Identifier: 35323937
author list: Hoskova K, Kayton Bryant N, Chen ME, Nachtigall LB, Lippincott MF, Balasubramanian R, Seminara SB
published in: The Journal of clinical endocrinology and metabolism
information resource reference: Kisspeptin Overcomes GnRH Neuronal Suppression Secondary to Hyperprolactinemia in Humans. J Clin Endocrinol Metab. 2022 07 14; 107(8):e3515-e3525.
journal title abbreviation: J Clin Endocrinol Metab
publication date: 2022-07-14T00:00:00
year: 2022
type: Academic Article
type: Article
type: Document
type: Information Resource

Authorship 281485
type: Authorship
author rank in publication: 2
linked author: Seminara, Stephanie
linked information resource: Kallmann syndrome in a 47,XXX patient.

Authorship 1450765
type: Authorship
author rank in publication: 9
linked author: Seminara, Stephanie
linked information resource: Prevalence and Phenotypic Effects of Copy Number Variants in Isolated Hypogonadotropic Hypogonadism.

Prevalence and Phenotypic Effects of Copy Number Variants in Isolated Hypogonadotropic Hypogonadism.
PubMed Identifier: 35574646
author list: Stamou MI, Brand H, Wang M, Wong I, Lippincott MF, Plummer L, Crowley WF, Talkowski M, Seminara S, Balasubramanian R
published in: The Journal of clinical endocrinology and metabolism
information resource reference: Prevalence and Phenotypic Effects of Copy Number Variants in Isolated Hypogonadotropic Hypogonadism. J Clin Endocrinol Metab. 2022 07 14; 107(8):2228-2242.
journal title abbreviation: J Clin Endocrinol Metab
publication date: 2022-07-14T00:00:00
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type: Academic Article
type: Article
type: Document
type: Information Resource

Authorship 1501323
type: Authorship
author rank in publication: 28
linked author: Seminara, Stephanie
linked information resource: The p190 RhoGAPs, ARHGAP35, and ARHGAP5 are implicated in GnRH neuronal development: Evidence from patients with idiopathic hypogonadotropic hypogonadism, zebrafish, and in vitro GAP activity assay.

Authorship 1493163
type: Authorship
author rank in publication: 9
linked author: Seminara, Stephanie
linked information resource: Reproductive Phenotypes and Genotypes in Men With IHH.

Reproductive Phenotypes and Genotypes in Men With IHH.
PubMed Identifier: 36268624
author list: Dwyer AA, Stamou MI, Anghel E, Hornstein S, Chen D, Salnikov KB, McDonald IR, Plummer L, Seminara SB, Balasubramanian R
published in: The Journal of clinical endocrinology and metabolism
information resource reference: Reproductive Phenotypes and Genotypes in Men With IHH. J Clin Endocrinol Metab. 2023 03 10; 108(4):897-908.
journal title abbreviation: J Clin Endocrinol Metab
publication date: 2023-03-10T00:00:00
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type: Academic Article
type: Article
type: Document
type: Information Resource

The p190 RhoGAPs, ARHGAP35, and ARHGAP5 are implicated in GnRH neuronal development: Evidence from patients with idiopathic hypogonadotropic hypogonadism, zebrafish, and in vitro GAP activity assay.
PubMed Identifier: 36178483
author list: Lippincott MF, Xu W, Smith AA, Miao X, Lafont A, Shennib O, Farley GJ, Sabbagh R, Delaney A, Stamou M, Plummer L, Salnikov K, Georgopoulos NA, Mericq V, Quinton R, Mau-Them FT, Nambot S, Hamad A, Brittain H, Tooze RS, Calpena E, Wilkie AOM, Willems M, Crowley WF, Balasubramanian R, Lamarche-Vane N, Davis EE, Seminara SB
published in: Genetics in medicine : official journal of the American College of Medical Genetics
information resource reference: The p190 RhoGAPs, ARHGAP35, and ARHGAP5 are implicated in GnRH neuronal development: Evidence from patients with idiopathic hypogonadotropic hypogonadism, zebrafish, and in vitro GAP activity assay. Genet Med. 2022 12; 24(12):2501-2515.
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type: Academic Article
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Authorship 1506213
type: Authorship
author rank in publication: 8
linked author: Seminara, Stephanie
linked information resource: Reversible hypogonadotropic hypogonadism in men with the fertile eunuch/Pasqualini syndrome: A single-center natural history study.

Reversible hypogonadotropic hypogonadism in men with the fertile eunuch/Pasqualini syndrome: A single-center natural history study.
PubMed Identifier: 36407308
author list: Dwyer AA, Stamou M, McDonald IR, Anghel E, Cox KH, Salnikov KB, Plummer L, Seminara SB, Balasubramanian R
published in: Frontiers in endocrinology
information resource reference: Reversible hypogonadotropic hypogonadism in men with the fertile eunuch/Pasqualini syndrome: A single-center natural history study. Front Endocrinol (Lausanne). 2022; 13:1054447.
journal title abbreviation: Front Endocrinol (Lausanne)
publication date: 2022-11-02T00:00:00
year: 2022
type: Academic Article
type: Article
type: Document
type: Information Resource

Authorship 466964
type: Authorship
author rank in publication: 5
linked author: Seminara, Stephanie
linked information resource: Neuroendocrine, gonadal, placental, and obstetric phenotypes in patients with IHH and mutations in the G-protein coupled receptor, GPR54.

Authorship 193051
type: Authorship
author rank in publication: 8
linked author: Seminara, Stephanie
linked information resource: Responsiveness to a physiological regimen of GnRH therapy and relation to genotype in women with isolated hypogonadotropic hypogonadism.

Authorship 196578
type: Authorship
author rank in publication: 1
linked author: Seminara, Stephanie
linked information resource: Serum and urine somatomedin B in pediatrics.

Authorship 1514718
type: Authorship
author rank in publication: 17
linked author: Seminara, Stephanie
linked information resource: Heterozygous mutations in SOX2 may cause idiopathic hypogonadotropic hypogonadism via dominant-negative mechanisms.

Heterozygous mutations in SOX2 may cause idiopathic hypogonadotropic hypogonadism via dominant-negative mechanisms.
PubMed Identifier: 36602867
author list: Cassin J, Stamou MI, Keefe KW, Sung KE, Bojo CC, Tonsfeldt KJ, Rojas RA, Ferreira Lopes V, Plummer L, Salnikov KB, Keefe DL, Ozata M, Genel M, Georgopoulos NA, Hall JE, Crowley WF, Seminara SB, Mellon PL, Balasubramanian R
published in: JCI insight
information resource reference: Heterozygous mutations in SOX2 may cause idiopathic hypogonadotropic hypogonadism via dominant-negative mechanisms. JCI Insight. 2023 02 08; 8(3).
journal title abbreviation: JCI Insight
publication date: 2023-02-08T00:00:00
year: 2023
type: Academic Article
type: Article
type: Document
type: Information Resource

Ataxia, dementia, and hypogonadotropism caused by disordered ubiquitination.
PubMed Identifier: 23656588
author list: Margolin DH, Kousi M, Chan YM, Lim ET, Schmahmann JD, Hadjivassiliou M, Hall JE, Adam I, Dwyer A, Plummer L, Aldrin SV, O'Rourke J, Kirby A, Lage K, Milunsky A, Milunsky JM, Chan J, Hedley-Whyte ET, Daly MJ, Katsanis N, Seminara SB
published in: The New England journal of medicine
information resource reference: Ataxia, dementia, and hypogonadotropism caused by disordered ubiquitination. N Engl J Med. 2013 May 23; 368(21):1992-2003.
journal title abbreviation: N Engl J Med
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type: Academic Article
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Authorship 480406
type: Authorship
author rank in publication: 2
linked author: Seminara, Stephanie
linked information resource: Neurokinin B stimulates GnRH release in the male monkey (Macaca mulatta) and is colocalized with kisspeptin in the arcuate nucleus.

Authorship 492838
type: Authorship
author rank in publication: 1
linked author: Seminara, Stephanie
linked information resource: Mechanisms of Disease: the first kiss-a crucial role for kisspeptin-1 and its receptor, G-protein-coupled receptor 54, in puberty and reproduction.

Authorship 277821
type: Authorship
author rank in publication: 7
linked author: Seminara, Stephanie
linked information resource: A GPR54-activating mutation in a patient with central precocious puberty.

Authorship 1568922
type: Authorship
author rank in publication: 16
linked author: Seminara, Stephanie
linked information resource: Phenotypic continuum between Waardenburg syndrome and idiopathic hypogonadotropic hypogonadism in humans with SOX10 variants.

Authorship 1563233
type: Authorship
author rank in publication: 27
linked author: Seminara, Stephanie
linked information resource: Prevalence of Deleterious Variants in MC3R in Patients With Constitutional Delay of Growth and Puberty.

Prevalence of Deleterious Variants in MC3R in Patients With Constitutional Delay of Growth and Puberty.
PubMed Identifier: 37339320
author list: Duckett K, Williamson A, Kincaid JWR, Rainbow K, Corbin LJ, Martin HC, Eberhardt RY, Huang QQ, Hurles ME, He W, Brauner R, Delaney A, Dunkel L, Grinspon RP, Hall JE, Hirschhorn JN, Howard SR, Latronico AC, Jorge AAL, McElreavey K, Mericq V, Merino PM, Palmert MR, Plummer L, Rey RA, Rezende RC, Seminara SB, Salnikov K, Banerjee I, Lam BYH, Perry JRB, Timpson NJ, Clayton P, Chan YM, Ong KK, O'Rahilly S
published in: The Journal of clinical endocrinology and metabolism
information resource reference: Prevalence of Deleterious Variants in MC3R in Patients With Constitutional Delay of Growth and Puberty. J Clin Endocrinol Metab. 2023 11 17; 108(12):e1580-e1587.
journal title abbreviation: J Clin Endocrinol Metab
publication date: 2023-11-17T00:00:00
year: 2023
type: Academic Article
type: Article
type: Document
type: Information Resource

Phenotypic continuum between Waardenburg syndrome and idiopathic hypogonadotropic hypogonadism in humans with SOX10 variants.
PubMed Identifier: 37272927
author list: Rojas RA, Kutateladze AA, Plummer L, Stamou M, Keefe DL, Salnikov KB, Delaney A, Hall JE, Sadreyev R, Ji F, Fliers E, Gambosova K, Quinton R, Merino PM, Mericq V, Seminara SB, Crowley WF, Balasubramanian R
published in: Genetics in medicine : official journal of the American College of Medical Genetics
information resource reference: Phenotypic continuum between Waardenburg syndrome and idiopathic hypogonadotropic hypogonadism in humans with SOX10 variants. Genet Med. 2023 Jun; 25(6):100855.
journal title abbreviation: Genet Med
publication date: 2023-06-01T00:00:00
year: 2023
type: Academic Article
type: Article
type: Document
type: Information Resource

Instructor in Medicine
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position in division: Reproductive Endocrine Unit
sort order: 1
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HR job title: Instructor in Medicine
position in organization: Massachusetts General Hospital

Authorship 307004
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author rank in publication: 11
linked author: Seminara, Stephanie
linked information resource: Mutations in prokineticin 2 and prokineticin receptor 2 genes in human gonadotrophin-releasing hormone deficiency: molecular genetics and clinical spectrum.

Authorship 230551
type: Authorship
author rank in publication: 8
linked author: Seminara, Stephanie
linked information resource: Mutational analysis of TAC3 and TACR3 genes in patients with idiopathic central pubertal disorders.

Authorship 1582138
type: Authorship
author rank in publication: 17
linked author: Seminara, Stephanie
linked information resource: POU6F2 mutation in humans with pubertal failure alters GnRH transcript expression.

POU6F2 mutation in humans with pubertal failure alters GnRH transcript expression.
PubMed Identifier: 37600690
author list: Cho HJ, Gurbuz F, Stamou M, Kotan LD, Farmer SM, Can S, Tompkins MF, Mammadova J, Altincik SA, Gokce C, Catli G, Bugrul F, Bartlett K, Turan I, Balasubramanian R, Yuksel B, Seminara SB, Wray S, Topaloglu AK
published in: Frontiers in endocrinology
information resource reference: POU6F2 mutation in humans with pubertal failure alters GnRH transcript expression. Front Endocrinol (Lausanne). 2023; 14:1203542.
journal title abbreviation: Front Endocrinol (Lausanne)
publication date: 2023-08-01T00:00:00
year: 2023
type: Academic Article
type: Article
type: Document
type: Information Resource

Authorship 1596505
type: Authorship
author rank in publication: 3
linked author: Seminara, Stephanie
linked information resource: How human genetic context can inform pathogenicity classification: FGFR1 variation in idiopathic hypogonadotropic hypogonadism.

How human genetic context can inform pathogenicity classification: FGFR1 variation in idiopathic hypogonadotropic hypogonadism.
PubMed Identifier: 37805574
author list: Xu W, Plummer L, Seminara SB, Balasubramanian R, Lippincott MF
published in: Human genetics
information resource reference: How human genetic context can inform pathogenicity classification: FGFR1 variation in idiopathic hypogonadotropic hypogonadism. Hum Genet. 2023 Nov; 142(11):1611-1619.
journal title abbreviation: Hum Genet
publication date: 2023-10-07T00:00:00
year: 2023
type: Academic Article
type: Article
type: Document
type: Information Resource

Phase 2 Kp-10 in Patients with Hypogonadotropic Hypogonadism
end date: 2028-05-31
principal investigator name: SEMINARA, STEPHANIE BETH
start date: 2023-09-15
type: Grant
sponsor award id: R01FD007843

Principal Investigator
type: Researcher Role
researcher role of: Seminara, Stephanie
contributes to: Phase 2 Kp-10 in Patients with Hypogonadotropic Hypogonadism

Authorship 554536
type: Authorship
author rank in publication: 3
linked author: Seminara, Stephanie
linked information resource: The kisspeptin signaling pathway and its role in human isolated GnRH deficiency.

Authorship 1634300
type: Authorship
author rank in publication: 13
linked author: Seminara, Stephanie
linked information resource: Classes and predictors of reversal in male patients with congenital hypogonadotropic hypogonadism: a cross-sectional study of six international referral centres.

Classes and predictors of reversal in male patients with congenital hypogonadotropic hypogonadism: a cross-sectional study of six international referral centres.
PubMed Identifier: 38437850
author list: Dwyer AA, McDonald IR, Cangiano B, Giovanelli L, Maione L, Silveira LFG, Raivio T, Latronico AC, Young J, Quinton R, Bonomi M, Persani L, Seminara SB, Lee CS
published in: The lancet. Diabetes & endocrinology
information resource reference: Classes and predictors of reversal in male patients with congenital hypogonadotropic hypogonadism: a cross-sectional study of six international referral centres. Lancet Diabetes Endocrinol. 2024 04; 12(4):257-266.
journal title abbreviation: Lancet Diabetes Endocrinol
publication date: 2024-03-01T00:00:00
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type: Information Resource

Authorship 526593
type: Authorship
author rank in publication: 7
linked author: Seminara, Stephanie
linked information resource: A role for kisspeptins in the regulation of gonadotropin secretion in the mouse.

Authorship 1637472
type: Authorship
author rank in publication: 13
linked author: Seminara, Stephanie
linked information resource: Contributions of Common Genetic Variants to Constitutional Delay of Puberty and Idiopathic Hypogonadotropic Hypogonadism.

Contributions of Common Genetic Variants to Constitutional Delay of Puberty and Idiopathic Hypogonadotropic Hypogonadism.
PubMed Identifier: 38477512
author list: Lippincott MF, Schafer EC, Hindman AA, He W, Brauner R, Delaney A, Grinspon R, Hall JE, Hirschhorn JN, McElreavey K, Palmert MR, Rey R, Seminara SB, Salem RM, Chan YM
published in: The Journal of clinical endocrinology and metabolism
information resource reference: Contributions of Common Genetic Variants to Constitutional Delay of Puberty and Idiopathic Hypogonadotropic Hypogonadism. J Clin Endocrinol Metab. 2024 Dec 18; 110(1):e61-e67.
journal title abbreviation: J Clin Endocrinol Metab
publication date: 2024-12-18T00:00:00
year: 2024
type: Academic Article
type: Article
type: Document
type: Information Resource

Authorship 1641770
type: Authorship
author rank in publication: 52
linked author: Seminara, Stephanie
linked information resource: Genome-wide analyses identify 21 infertility loci and over 400 reproductive hormone loci across the allele frequency spectrum.

Genome-wide analyses identify 21 infertility loci and over 400 reproductive hormone loci across the allele frequency spectrum.
PubMed Identifier: 38562841
author list: Venkatesh SS, Wittemans LBL, Palmer DS, Baya NA, Ferreira T, Hill B, Lassen FH, Parker MJ, Reibe S, Elhakeem A, Banasik K, Bruun MT, Erikstrup C, Jensen BA, Juul A, Mikkelsen C, Nielsen HS, Ostrowski SR, Pedersen OB, Rohde PD, Sorensen E, Ullum H, Westergaard D, Haraldsson A, Holm H, Jonsdottir I, Olafsson I, Steingrimsdottir T, Steinthorsdottir V, Thorleifsson G, Figueredo J, Karjalainen MK, Pasanen A, Jacobs BM, Hubers N, Lippincott M, Fraser A, Lawlor DA, Timpson NJ, Nyegaard M, Stefansson K, Magi R, Laivuori H, van Heel DA, Boomsma DI, Balasubramanian R, Seminara SB, Chan YM, Laisk T, Lindgren CM
published in: medRxiv : the preprint server for health sciences
information resource reference: Genome-wide analyses identify 21 infertility loci and over 400 reproductive hormone loci across the allele frequency spectrum. medRxiv. 2024 Mar 20.
journal title abbreviation: medRxiv
publication date: 2024-03-20T00:00:00
year: 2024
type: Academic Article
type: Article
type: Document
type: Information Resource

Authorship 157905
type: Authorship
author rank in publication: 1
linked author: Seminara, Stephanie
linked information resource: Inhibin B in males with gonadotropin-releasing hormone (GnRH) deficiency: changes in serum concentration after shortterm physiologic GnRH replacement--a clinical research center study.

Authorship 1664376
type: Authorship
author rank in publication: 9
linked author: Seminara, Stephanie
linked information resource: Defective FGFR1 Signaling Disrupts Glucose Regulation: Evidence From Humans With FGFR1 Mutations.

Defective FGFR1 Signaling Disrupts Glucose Regulation: Evidence From Humans With FGFR1 Mutations.
PubMed Identifier: 38957656
author list: Stamou MI, Chiu CJ, Jadhav SV, Lopes VF, Salnikov KB, Plummer L, Lippincott MF, Lee H, Seminara SB, Balasubramanian R
published in: Journal of the Endocrine Society
information resource reference: Defective FGFR1 Signaling Disrupts Glucose Regulation: Evidence From Humans With FGFR1 Mutations. J Endocr Soc. 2024 Jul 01; 8(8):bvae118.
journal title abbreviation: J Endocr Soc
publication date: 2024-06-13T00:00:00
year: 2024
type: Academic Article
type: Article
type: Document
type: Information Resource

Authorship 23906
type: Authorship
author rank in publication: 14
linked author: Seminara, Stephanie
linked information resource: Coding sequence analysis of GNRHR and GPR54 in patients with congenital and adult-onset forms of hypogonadotropic hypogonadism.

Professor of Medicine
is primary position: true
position in department: Medicine
position in division: Endocrinology
sort order: 1
type: Position
HR job title: Professor of Medicine
position in organization: Brigham and Women's Hospital

Professor of Medicine
is primary position: true
position in department: Medicine
position in division: Endocrinology
sort order: 1
type: Position
HR job title: Professor of Medicine
position in organization: Brigham and Women's Hospital

Associate Professor of Medicine
is primary position: true
position in department: Medicine
position in division: Reproductive Endocrine Unit
sort order: 1
type: Position
HR job title: Associate Professor of Medicine
position in organization: Massachusetts General Hospital

Authorship 289090
type: Authorship
author rank in publication: 3
linked author: Seminara, Stephanie
linked information resource: New genes controlling human reproduction and how you find them.

Authorship 302444
type: Authorship
author rank in publication: 1
linked author: Seminara, Stephanie
linked information resource: Genetic approaches to unraveling reproductive disorders: examples of bedside to bench research in the genomic era.

Authorship 666835
type: Authorship
author rank in publication: 10
linked author: Seminara, Stephanie
linked information resource: Prioritizing genetic testing in patients with Kallmann syndrome using clinical phenotypes.

Authorship 652647
type: Authorship
author rank in publication: 21
linked author: Seminara, Stephanie
linked information resource: Ataxia, dementia, and hypogonadotropism caused by disordered ubiquitination.

Authorship 663628
type: Authorship
author rank in publication: 15
linked author: Seminara, Stephanie
linked information resource: Mutations in FGF17, IL17RD, DUSP6, SPRY4, and FLRT3 are identified in individuals with congenital hypogonadotropic hypogonadism.

Authorship 646909
type: Authorship
author rank in publication: 15
linked author: Seminara, Stephanie
linked information resource: Redundancy in Kiss1 expression safeguards reproduction in the mouse.

Authorship 663882
type: Authorship
author rank in publication: 5
linked author: Seminara, Stephanie
linked information resource: LC-MS/MS quantification of a neuropeptide fragment kisspeptin-10 (NSC 741805) and characterization of its decomposition product and pharmacokinetics in rats.

LC-MS/MS quantification of a neuropeptide fragment kisspeptin-10 (NSC 741805) and characterization of its decomposition product and pharmacokinetics in rats.
PubMed Identifier: 23524040
author list: Liu Z, Ren C, Jones W, Chen P, Seminara SB, Chan YM, Smith NF, Covey JM, Wang J, Chan KK
published in: Journal of chromatography. B, Analytical technologies in the biomedical and life sciences
information resource reference: LC-MS/MS quantification of a neuropeptide fragment kisspeptin-10 (NSC 741805) and characterization of its decomposition product and pharmacokinetics in rats. J Chromatogr B Analyt Technol Biomed Life Sci. 2013 May 01; 926:1-8.
journal title abbreviation: J Chromatogr B Analyt Technol Biomed Life Sci
publication date: 2013-03-04T00:00:00
year: 2013
type: Academic Article
type: Article
type: Document
type: Information Resource

Mutations in FGF17, IL17RD, DUSP6, SPRY4, and FLRT3 are identified in individuals with congenital hypogonadotropic hypogonadism.
PubMed Identifier: 23643382
author list: Miraoui H, Dwyer AA, Sykiotis GP, Plummer L, Chung W, Feng B, Beenken A, Clarke J, Pers TH, Dworzynski P, Keefe K, Niedziela M, Raivio T, Crowley WF, Seminara SB, Quinton R, Hughes VA, Kumanov P, Young J, Yialamas MA, Hall JE, Van Vliet G, Chanoine JP, Rubenstein J, Mohammadi M, Tsai PS, Sidis Y, Lage K, Pitteloud N
published in: American journal of human genetics
information resource reference: Mutations in FGF17, IL17RD, DUSP6, SPRY4, and FLRT3 are identified in individuals with congenital hypogonadotropic hypogonadism. Am J Hum Genet. 2013 May 02; 92(5):725-43.
journal title abbreviation: Am J Hum Genet
publication date: 2013-05-02T00:00:00
year: 2013
type: Academic Article
type: Article
type: Document
type: Information Resource

Redundancy in Kiss1 expression safeguards reproduction in the mouse.
PubMed Identifier: 23736293
author list: Popa SM, Moriyama RM, Caligioni CS, Yang JJ, Cho CM, Concepcion TL, Oakley AE, Lee IH, Sanz E, Amieux PS, Caraty A, Palmiter RD, Navarro VM, Chan YM, Seminara SB, Clifton DK, Steiner RA
published in: Endocrinology
information resource reference: Redundancy in Kiss1 expression safeguards reproduction in the mouse. Endocrinology. 2013 Aug; 154(8):2784-94.
journal title abbreviation: Endocrinology
publication date: 2013-06-04T00:00:00
year: 2013
type: Academic Article
type: Article
type: Document
type: Information Resource

Prioritizing genetic testing in patients with Kallmann syndrome using clinical phenotypes.
PubMed Identifier: 23533228
author list: Costa-Barbosa FA, Balasubramanian R, Keefe KW, Shaw ND, Al-Tassan N, Plummer L, Dwyer AA, Buck CL, Choi JH, Seminara SB, Quinton R, Monies D, Meyer B, Hall JE, Pitteloud N, Crowley WF
published in: The Journal of clinical endocrinology and metabolism
information resource reference: Prioritizing genetic testing in patients with Kallmann syndrome using clinical phenotypes. J Clin Endocrinol Metab. 2013 May; 98(5):E943-53.
journal title abbreviation: J Clin Endocrinol Metab
publication date: 2013-03-26T00:00:00
year: 2013
type: Academic Article
type: Article
type: Document
type: Information Resource

Authorship 1698450
type: Authorship
author rank in publication: 11
linked author: Seminara, Stephanie
linked information resource: Expanding the Spectrum of Endocrine Abnormalities Associated With SOX11-related Disorders.

Authorship 1694988
type: Authorship
author rank in publication: 9
linked author: Seminara, Stephanie
linked information resource: Lack of a genetic risk continuum between pubertal timing in the general population and idiopathic hypogonadotropic hypogonadism.

Lack of a genetic risk continuum between pubertal timing in the general population and idiopathic hypogonadotropic hypogonadism.
PubMed Identifier: 39256164
author list: Plummer L, Balasubramanian R, Stamou M, Campbell M, Dewan P, Bryant N, Salnikov K, Lippincott M, Seminara S
published in: Journal of neuroendocrinology
information resource reference: Lack of a genetic risk continuum between pubertal timing in the general population and idiopathic hypogonadotropic hypogonadism. J Neuroendocrinol. 2024 10; 36(10):e13445.
journal title abbreviation: J Neuroendocrinol
publication date: 2024-09-10T00:00:00
year: 2024
type: Academic Article
type: Article
type: Document
type: Information Resource

Expanding the Spectrum of Endocrine Abnormalities Associated With SOX11-related Disorders.
PubMed Identifier: 39290158
author list: Sun B, Stamou MI, Stockman SL, Campbell MB, Plummer L, Salnikov KB, Kotan LD, Topaloglu AK, Hisama FM, Davis EE, Seminara SB, Balasubramanian R
published in: The Journal of clinical endocrinology and metabolism
information resource reference: Expanding the Spectrum of Endocrine Abnormalities Associated With SOX11-related Disorders. J Clin Endocrinol Metab. 2025 Mar 17; 110(4):1044-1052.
journal title abbreviation: J Clin Endocrinol Metab
publication date: 2025-03-17T00:00:00
year: 2025
type: Academic Article
type: Article
type: Document
type: Information Resource

Authorship 538260
type: Authorship
author rank in publication: 28
linked author: Seminara, Stephanie
linked information resource: GnRH-deficient phenotypes in humans and mice with heterozygous variants in KISS1/Kiss1.

Investigating incidence of Fabry disease in patients with cryptogenic/ischemic stroke
end date: 2013-07-17T00:00:00
start date: 2013-02-04T00:00:00
type: Mentoring - Completed Student Project
overview: Summer

Authorship 257139
type: Authorship
author rank in publication: 1
linked author: Seminara, Stephanie
linked information resource: Lack of association of hypogonadotropic genes with age at menarche: prospects for the future.

Authorship 158693
type: Authorship
author rank in publication: 19
linked author: Seminara, Stephanie
linked information resource: When genetic load does not correlate with phenotypic spectrum: lessons from the GnRH receptor (GNRHR).

Authorship 681559
type: Authorship
author rank in publication: 3
linked author: Seminara, Stephanie
linked information resource: Use of genetic models of idiopathic hypogonadotrophic hypogonadism in mice and men to understand the mechanisms of disease.

Use of genetic models of idiopathic hypogonadotrophic hypogonadism in mice and men to understand the mechanisms of disease.
PubMed Identifier: 23955308
author list: Lippincott MF, True C, Seminara SB
published in: Experimental physiology
information resource reference: Use of genetic models of idiopathic hypogonadotrophic hypogonadism in mice and men to understand the mechanisms of disease. Exp Physiol. 2013 Nov; 98(11):1522-7.
journal title abbreviation: Exp Physiol
publication date: 2013-08-16T00:00:00
year: 2013
type: Academic Article
type: Article
type: Document
type: Information Resource

Authorship 319431
type: Authorship
author rank in publication: 2
linked author: Seminara, Stephanie
linked information resource: Expanding the phenotype and genotype of female GnRH deficiency.

Authorship 341759
type: Authorship
author rank in publication: 4
linked author: Seminara, Stephanie
linked information resource: Kisspeptin/Gpr54-independent gonadotrophin-releasing hormone activity in Kiss1 and Gpr54 mutant mice.

Authorship 1729598
type: Authorship
author rank in publication: 14
linked author: Seminara, Stephanie
linked information resource: Sex-dependent increases in oxytocin levels in response to intravenous kisspeptin in humans.

Sex-dependent increases in oxytocin levels in response to intravenous kisspeptin in humans.
PubMed Identifier: 39965102
author list: Galbiati F, Plessow F, Plummer L, Campbell MB, Nazarloo S, Carter CS, Carroll RS, Kim HK, Pereira SA, Paulis D, Davis JM, Miller KK, Kaiser UB, Seminara SB, Aulinas A, Lawson EA
published in: European journal of endocrinology
information resource reference: Sex-dependent increases in oxytocin levels in response to intravenous kisspeptin in humans. Eur J Endocrinol. 2025 Mar 03; 192(3):K24-K29.
journal title abbreviation: Eur J Endocrinol
publication date: 2025-03-03T00:00:00
year: 2025
type: Academic Article
type: Article
type: Document
type: Information Resource

Authorship 1740922
type: Authorship
author rank in publication: 53
linked author: Seminara, Stephanie
linked information resource: Genome-wide analyses identify 25 infertility loci and relationships with reproductive traits across the allele frequency spectrum.

Authorship 1746759
type: Authorship
author rank in publication: 13
linked author: Seminara, Stephanie
linked information resource: Deleterious variants in intolerant genes reveal new candidates for self-limited delayed puberty.

Genome-wide analyses identify 25 infertility loci and relationships with reproductive traits across the allele frequency spectrum.
PubMed Identifier: 40229599
author list: Venkatesh SS, Wittemans LBL, Palmer DS, Baya NA, Ferreira T, Hill B, Lassen FH, Parker MJ, Reibe S, Elhakeem A, Banasik K, Bruun MT, Erikstrup C, Aagard Jensen B, Juul A, Mikkelsen C, Nielsen HS, Ostrowski SR, Pedersen OB, Rohde PD, Sørensen E, Ullum H, Westergaard D, Haraldsson A, Holm H, Jonsdottir I, Olafsson I, Steingrimsdottir T, Steinthorsdottir V, Thorleifsson G, Figueredo J, Karjalainen MK, Pasanen A, Jacobs BM, Kalantzis G, Hubers N, Lippincott M, Fraser A, Lawlor DA, Timpson NJ, Nyegaard M, Stefansson K, Magi R, Laivuori H, van Heel DA, Boomsma DI, Balasubramanian R, Seminara SB, Chan YM, Laisk T, Lindgren CM
published in: Nature genetics
information resource reference: Genome-wide analyses identify 25 infertility loci and relationships with reproductive traits across the allele frequency spectrum. Nat Genet. 2025 May; 57(5):1107-1118.
journal title abbreviation: Nat Genet
publication date: 2025-04-14T00:00:00
year: 2025
type: Academic Article
type: Article
type: Document
type: Information Resource

Deleterious variants in intolerant genes reveal new candidates for self-limited delayed puberty.
PubMed Identifier: 40193575
author list: Rezende RC, He W, Kaisinger LR, Lerario AM, Schafer EC, Kentistou KA, Barroso PS, Andrade NLM, Dantas NCB, Costa EMF, Cellin LP, P S Quedas E, Seminara SB, Rey RA, Grinspon RP, Meriq V, Ong KK, Latronico AC, Perry JRB, Howard SR, Chan YM, Jorge AAL
published in: European journal of endocrinology
information resource reference: Deleterious variants in intolerant genes reveal new candidates for self-limited delayed puberty. Eur J Endocrinol. 2025 Mar 27; 192(4):481-490.
journal title abbreviation: Eur J Endocrinol
publication date: 2025-03-27T00:00:00
year: 2025
type: Academic Article
type: Article
type: Document
type: Information Resource

Authorship 215361
type: Authorship
author rank in publication: 2
linked author: Seminara, Stephanie
linked information resource: Aromatase inhibition in the human male reveals a hypothalamic site of estrogen feedback.

Authorship 704968
type: Authorship
author rank in publication: 14
linked author: Seminara, Stephanie
linked information resource: Ataxia and hypogonadism caused by the loss of ubiquitin ligase activity of the U box protein CHIP.

Ataxia and hypogonadism caused by the loss of ubiquitin ligase activity of the U box protein CHIP.
PubMed Identifier: 24113144
author list: Shi CH, Schisler JC, Rubel CE, Tan S, Song B, McDonough H, Xu L, Portbury AL, Mao CY, True C, Wang RH, Wang QZ, Sun SL, Seminara SB, Patterson C, Xu YM
published in: Human molecular genetics
information resource reference: Ataxia and hypogonadism caused by the loss of ubiquitin ligase activity of the U box protein CHIP. Hum Mol Genet. 2014 Feb 15; 23(4):1013-24.
journal title abbreviation: Hum Mol Genet
publication date: 2013-10-09T00:00:00
year: 2013
type: Academic Article
type: Article
type: Document
type: Information Resource

Associate Professor of Medicine
is primary position: true
position in department: Medicine
position in division: Reproductive Endocrine Unit
sort order: 1
type: Position
HR job title: Associate Professor of Medicine
position in organization: Massachusetts General Hospital

Authorship 261112
type: Authorship
author rank in publication: 5
linked author: Seminara, Stephanie
linked information resource: A locus for autosomal recessive idiopathic hypogonadotropic hypogonadism on chromosome 19p13.3.

Authorship 708682
type: Authorship
author rank in publication: 1
linked author: Seminara, Stephanie
linked information resource: Catch-up growth in short-at-birth NICU graduates.

Authorship 708946
type: Authorship
author rank in publication: 4
linked author: Seminara, Stephanie
linked information resource: [Therapy with arginine chlorohydrate in children with short constitutional stature].

Authorship 719687
type: Authorship
author rank in publication: 9
linked author: Seminara, Stephanie
linked information resource: TACR3 mutations disrupt NK3R function through distinct mechanisms in GnRH-deficient patients.

Catch-up growth in short-at-birth NICU graduates.
PubMed Identifier: 11044794
author list: Seminara S, Rapisardi G, La Cauza F, Mattei P, Donzelli G
published in: Hormone research
information resource reference: Catch-up growth in short-at-birth NICU graduates. Horm Res. 2000; 53(3):139-43.
journal title abbreviation: Horm Res
publication date: 2000-01-01T00:00:00
year: 2000
type: Academic Article
type: Article
type: Document
type: Information Resource

[Therapy with arginine chlorohydrate in children with short constitutional stature].
PubMed Identifier: 8316165
author list: Pittari AM, Becherucci P, La Cauza F, Seminara S
published in: Minerva pediatrica
information resource reference: [Therapy with arginine chlorohydrate in children with short constitutional stature]. Minerva Pediatr. 1993 Jan-Feb; 45(1-2):61-5.
journal title abbreviation: Minerva Pediatr
publication date: 1993-01-01T00:00:00
year: 1993
type: Academic Article
type: Article
type: Document
type: Information Resource

Authorship 338641
type: Authorship
author rank in publication: 3
linked author: Seminara, Stephanie
linked information resource: Increased hypothalamic GPR54 signaling: a potential mechanism for initiation of puberty in primates.

TACR3 mutations disrupt NK3R function through distinct mechanisms in GnRH-deficient patients.
PubMed Identifier: 24376026
author list: Noel SD, Abreu AP, Xu S, Muyide T, Gianetti E, Tusset C, Carroll J, Latronico AC, Seminara SB, Carroll RS, Kaiser UB
published in: FASEB journal : official publication of the Federation of American Societies for Experimental Biology
information resource reference: TACR3 mutations disrupt NK3R function through distinct mechanisms in GnRH-deficient patients. FASEB J. 2014 Apr; 28(4):1924-37.
journal title abbreviation: FASEB J
publication date: 2013-12-27T00:00:00
year: 2013
type: Academic Article
type: Article
type: Document
type: Information Resource

Global Health: Increasing Contraceptive Choice for Women in Low and Middle Income Countries
end date: 2027-12-31T00:00:00
start date: 2025-12-04T00:00:00
type: Mentoring - Current Student Opportunity
overview: Our team was selected by the Gates Foundation to participate in a Grand Challenge entitled “Accelerating Discovery of Nonhormonal Contraceptives.” The goal of this project is to develop novel non-hormonal contraceptive agents for women in low and middle income countries. Our specific project within this Grand Challenge aims to explore the genetic underpinnings of female infertility, in order to identifying molecular pathways that can be safely and effectively targeted by therapeutics to achieve a contraceptive effect. We have assembled the largest collection of DNA samples from women with unexplained infertility in the world, created a phenotypic database and performed numerous genetic analyses to identify novel genes for this condition. Interested students will work with a team of investigators, fellows, and clinical research coordinators to analyze this large data set (already assembled). Specifically, students will examine data integrity and consistency, execute queries, and perform genotype-phenotype analyses both within our database and within the Mass General Brigham biobank.
webpage: https://connects.catalyst.harvard.edu/profiles/studentopportunities/Detail

Women’s Health: From Genetic Discovery to Developing New Drugs for Reproductive Disorders
end date: 2027-12-31T00:00:00
start date: 2025-12-04T00:00:00
type: Mentoring - Current Student Opportunity
overview: Several years ago, our team discovered that kisspeptin, a hypothalamic hormone, is a gatekeeper of human puberty and fertility. Our team is now capitalizing on this discovery by administering this hormone to patients to explore whether it can be used as a novel treatment for patients with certain reproductive disorders. Supported by multiple grants from both the NIH and the FDA, our team is actively enrolling subjects in numerous clinical protocols. Interested students will work with a team of investigators, fellows, and clinical research coordinators to analyze this data.
webpage: https://connects.catalyst.harvard.edu/profiles/studentopportunities/Detail

Authorship 731048
type: Authorship
author rank in publication: 13
linked author: Seminara, Stephanie
linked information resource: Reversal and relapse of hypogonadotropic hypogonadism: resilience and fragility of the reproductive neuroendocrine system.

Reversal and relapse of hypogonadotropic hypogonadism: resilience and fragility of the reproductive neuroendocrine system.
PubMed Identifier: 24423288
author list: Sidhoum VF, Chan YM, Lippincott MF, Balasubramanian R, Quinton R, Plummer L, Dwyer A, Pitteloud N, Hayes FJ, Hall JE, Martin KA, Boepple PA, Seminara SB
published in: The Journal of clinical endocrinology and metabolism
information resource reference: Reversal and relapse of hypogonadotropic hypogonadism: resilience and fragility of the reproductive neuroendocrine system. J Clin Endocrinol Metab. 2014 Mar; 99(3):861-70.
journal title abbreviation: J Clin Endocrinol Metab
publication date: 2013-01-01T00:00:00
year: 2013
type: Academic Article
type: Article
type: Document
type: Information Resource

Authorship 1786224
type: Authorship
author rank in publication: 12
linked author: Seminara, Stephanie
linked information resource: Childhood obesity: results of a multicenter study of obesity treatment in Italy.

Authorship 1832553
type: Authorship
author rank in publication: 11
linked author: Seminara, Stephanie
linked information resource: Intravenous kisspeptin 112-121 bolus does not acutely impact circulating vasopressin in humans.

Authorship 1844568
type: Authorship
author rank in publication: 6
linked author: Seminara, Stephanie
linked information resource: Expanding the phenotypic spectrum of PROK2/PROKR2: a recall-by-genotype study.

Childhood obesity: results of a multicenter study of obesity treatment in Italy.
PubMed Identifier: 10626272
author list: Pinelli L, Elerdini N, Faith MS, Agnello D, Ambruzzi A, De Simone M, Leggeri G, Livieri C, Monetti N, Peverelli P, Salvatoni A, Seminara S, Uasone R, Pietrobelli A
published in: Journal of pediatric endocrinology & metabolism : JPEM
information resource reference: Childhood obesity: results of a multicenter study of obesity treatment in Italy. J Pediatr Endocrinol Metab. 1999; 12 Suppl 3:795-9.
journal title abbreviation: J Pediatr Endocrinol Metab
publication date: 1999-01-01T00:00:00
year: 1999
type: Academic Article
type: Article
type: Document
type: Information Resource

Expanding the phenotypic spectrum of PROK2/PROKR2: a recall-by-genotype study.
PubMed Identifier: 40498399
author list: Stamou MI, Chiu CJ, Jadhav SV, Salnikov KB, Plummer L, Seminara SB, Balasubramanian R
published in: Human genetics
information resource reference: Expanding the phenotypic spectrum of PROK2/PROKR2: a recall-by-genotype study. Hum Genet. 2025 Jul; 144(7):761-773.
journal title abbreviation: Hum Genet
publication date: 2025-06-11T00:00:00
year: 2025
type: Academic Article
type: Article
type: Document
type: Information Resource

Intravenous kisspeptin 112-121 bolus does not acutely impact circulating vasopressin in humans.
PubMed Identifier: 41273106
author list: Galbiati F, Plessow F, Plummer L, Campbell MB, Nazarloo S, Carter CS, Davis JM, Miller KK, Carroll RS, Kaiser UB, Seminara SB, Aulinas A, Lawson EA
published in: Journal of neuroendocrinology
information resource reference: Intravenous kisspeptin 112-121 bolus does not acutely impact circulating vasopressin in humans. J Neuroendocrinol. 2026 Jan; 38(1):e70114.
journal title abbreviation: J Neuroendocrinol
publication date: 2025-11-22T00:00:00
year: 2025
type: Academic Article
type: Article
type: Document
type: Information Resource

Authorship 740380
type: Authorship
author rank in publication: 1
linked author: Seminara, Stephanie
linked information resource: Fatness and fertility: which direction?

Fatness and fertility: which direction?
PubMed Identifier: 24937420
author list: Seminara SB
published in: The Journal of clinical investigation
information resource reference: Fatness and fertility: which direction? J Clin Invest. 2014 Jul; 124(7):2853-4.
journal title abbreviation: J Clin Invest
publication date: 2014-06-17T00:00:00
year: 2014
type: Academic Article
type: Article
type: Document
type: Information Resource

Authorship 346397
type: Authorship
author rank in publication: 8
linked author: Seminara, Stephanie
linked information resource: Heparan sulfate 6-O-sulfotransferase 1, a gene involved in extracellular sugar modifications, is mutated in patients with idiopathic hypogonadotrophic hypogonadism.

Authorship 375668
type: Authorship
author rank in publication: 10
linked author: Seminara, Stephanie
linked information resource: Mutations in fibroblast growth factor receptor 1 cause Kallmann syndrome with a wide spectrum of reproductive phenotypes.

Associate Professor of Pediatrics
is primary position: true
position in department: Pediatrics
position in division: Endocrinology
sort order: 1
type: Position
HR job title: Associate Professor of Pediatrics
position in organization: Boston Children's Hospital

Associate Professor of Medicine
is primary position: true
position in department: Medicine
position in division: Infectious Disease
sort order: 1
type: Position
HR job title: Associate Professor of Medicine
position in organization: Massachusetts General Hospital

Authorship 452163
type: Authorship
author rank in publication: 1
linked author: Seminara, Stephanie
linked information resource: New gatekeepers of reproduction: GPR54 and its cognate ligand, KiSS-1.

Authorship 472257
type: Authorship
author rank in publication: 3
linked author: Seminara, Stephanie
linked information resource: Reproductive functions of kisspeptin and Gpr54 across the life cycle of mice and men.

Authorship 745586
type: Authorship
author rank in publication: 12
linked author: Seminara, Stephanie
linked information resource: Implantation failure in female Kiss1-/- mice is independent of their hypogonadic state and can be partially rescued by leukemia inhibitory factor.

Implantation failure in female Kiss1-/- mice is independent of their hypogonadic state and can be partially rescued by leukemia inhibitory factor.
PubMed Identifier: 24877624
author list: Calder M, Chan YM, Raj R, Pampillo M, Elbert A, Noonan M, Gillio-Meina C, Caligioni C, Bérubé NG, Bhattacharya M, Watson AJ, Seminara SB, Babwah AV
published in: Endocrinology
information resource reference: Implantation failure in female Kiss1-/- mice is independent of their hypogonadic state and can be partially rescued by leukemia inhibitory factor. Endocrinology. 2014 Aug; 155(8):3065-78.
journal title abbreviation: Endocrinology
publication date: 2014-05-30T00:00:00
year: 2014
type: Academic Article
type: Article
type: Document
type: Information Resource

Authorship 612164
type: Authorship
linked author: Seminara, Stephanie
linked information resource: Hypogonadotropic hypogonadism: A unique biologic opportunity

Authorship 459153
type: Authorship
author rank in publication: 8
linked author: Seminara, Stephanie
linked information resource: CHD7 mutations in patients initially diagnosed with Kallmann syndrome--the clinical overlap with CHARGE syndrome.

Authorship 773330
type: Authorship
author rank in publication: 7
linked author: Seminara, Stephanie
linked information resource: Exogenous kisspeptin administration as a probe of GnRH neuronal function in patients with idiopathic hypogonadotropic hypogonadism.

Exogenous kisspeptin administration as a probe of GnRH neuronal function in patients with idiopathic hypogonadotropic hypogonadism.
PubMed Identifier: 25226293
author list: Chan YM, Lippincott MF, Butler JP, Sidhoum VF, Li CX, Plummer L, Seminara SB
published in: The Journal of clinical endocrinology and metabolism
information resource reference: Exogenous kisspeptin administration as a probe of GnRH neuronal function in patients with idiopathic hypogonadotropic hypogonadism. J Clin Endocrinol Metab. 2014 Dec; 99(12):E2762-71.
journal title abbreviation: J Clin Endocrinol Metab
publication date: 2014-12-01T00:00:00
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type: Academic Article
type: Article
type: Document
type: Information Resource

Authorship 565412
type: Authorship
author rank in publication: 7
linked author: Seminara, Stephanie
linked information resource: https://connects.catalyst.harvard.edu/Profiles/profile/758895

Authorship 610924
type: Authorship
linked author: Seminara, Stephanie
linked information resource: Kisspeptin/Gpr54-independent GnRH activity in Kiss1 and Gpr54 mutant mice

Authorship 550228
type: Authorship
author rank in publication: 4
linked author: Seminara, Stephanie
linked information resource: A case of Kallmann syndrome carrying a missense mutation in alternatively spliced exon 8A encoding the immunoglobulin-like domain IIIb of fibroblast growth factor receptor 1.

Authorship 604816
type: Authorship
linked author: Seminara, Stephanie
linked information resource: Transcript & Tutor Guide "Pumped Up"

Authorship 424054
type: Authorship
author rank in publication: 2
linked author: Seminara, Stephanie
linked information resource: Thyroid hormones low levels in insulin-dependent diabetic young people.

Authorship 429914
type: Authorship
author rank in publication: 1
linked author: Seminara, Stephanie
linked information resource: Genetics of hypogonadotropic hypogonadism.

Authorship 303135
type: Authorship
author rank in publication: 1
linked author: Seminara, Stephanie
linked information resource: Changes of thyroid function during long-term hGH therapy in GHD children. A possible relationship with catch-up growth?

Authorship 505033
type: Authorship
author rank in publication: 1
linked author: Seminara, Stephanie
linked information resource: Kisspeptin in reproduction.

Authorship 50656
type: Authorship
author rank in publication: 8
linked author: Seminara, Stephanie
linked information resource: Kisspeptin resets the hypothalamic GnRH clock in men.

Authorship 236619
type: Authorship
author rank in publication: 1
linked author: Seminara, Stephanie
linked information resource: Effect of treatment with cyproterone acetate on uterine bleeding at the beginning of GnRH analogue therapy in girls with idiopathic central precocious puberty.

Authorship 169146
type: Authorship
author rank in publication: 2
linked author: Seminara, Stephanie
linked information resource: The importance of autosomal genes in Kallmann syndrome: genotype-phenotype correlations and neuroendocrine characteristics.

Authorship 603640
type: Authorship
linked author: Seminara, Stephanie
linked information resource: Learning from the Literature

Authorship 213684
type: Authorship
author rank in publication: 11
linked author: Seminara, Stephanie
linked information resource: Central precocious puberty due to hypothalamic hamartomas correlates with anatomic features but not with expression of GnRH, TGFalpha, or KISS1.

Authorship 609199
type: Authorship
linked author: Seminara, Stephanie
linked information resource: Precocious puberty associated with hypothalamic hamartomas correlates with anatomic features but not with expression of GnRH, TGFá, or KISS1

Authorship 254457
type: Authorship
author rank in publication: 1
linked author: Seminara, Stephanie
linked information resource: Effect of long-term growth hormone treatment on carbohydrate metabolism in children with growth hormone deficiency.

Authorship 412016
type: Authorship
author rank in publication: 1
linked author: Seminara, Stephanie
linked information resource: Kisspeptin and GPR54: discovery of a novel pathway in reproduction.

Authorship 414178
type: Authorship
author rank in publication: 5
linked author: Seminara, Stephanie
linked information resource: Kisspeptin administration to women: a window into endogenous kisspeptin secretion and GnRH responsiveness across the menstrual cycle.

Authorship 539180
type: Authorship
author rank in publication: 7
linked author: Seminara, Stephanie
linked information resource: Acute administration of recombinant human growth hormone inhibits the somatotrope responsiveness to growth hormone-releasing hormone in childhood.

Authorship 304540
type: Authorship
author rank in publication: 1
linked author: Seminara, Stephanie
linked information resource: Growth hormone (GH) response to GH-releasing hormone in short children: lack of correlation with endogenous nocturnal GH secretion.

Authorship 312052
type: Authorship
author rank in publication: 2
linked author: Seminara, Stephanie
linked information resource: Kisspeptin and KISS1R: a critical pathway in the reproductive system.

Authorship 796265
type: Authorship
author rank in publication: 8
linked author: Seminara, Stephanie
linked information resource: A shared genetic basis for self-limited delayed puberty and idiopathic hypogonadotropic hypogonadism.

Authorship 802742
type: Authorship
author rank in publication: 8
linked author: Seminara, Stephanie
linked information resource: The integrated hypothalamic tachykinin-kisspeptin system as a central coordinator for reproduction.

Authorship 805839
type: Authorship
author rank in publication: 5
linked author: Seminara, Stephanie
linked information resource: Neurokinin B is critical for normal timing of sexual maturation but dispensable for adult reproductive function in female mice.

Neurokinin B is critical for normal timing of sexual maturation but dispensable for adult reproductive function in female mice.
PubMed Identifier: 25574869
author list: True C, Nasrin Alam S, Cox K, Chan YM, Seminara SB
published in: Endocrinology
information resource reference: Neurokinin B is critical for normal timing of sexual maturation but dispensable for adult reproductive function in female mice. Endocrinology. 2015 Apr; 156(4):1386-97.
journal title abbreviation: Endocrinology
publication date: 2015-01-09T00:00:00
year: 2015
type: Academic Article
type: Article
type: Document
type: Information Resource

The integrated hypothalamic tachykinin-kisspeptin system as a central coordinator for reproduction.
PubMed Identifier: 25422875
author list: Navarro VM, Bosch MA, León S, Simavli S, True C, Pinilla L, Carroll RS, Seminara SB, Tena-Sempere M, Rønnekleiv OK, Kaiser UB
published in: Endocrinology
information resource reference: The integrated hypothalamic tachykinin-kisspeptin system as a central coordinator for reproduction. Endocrinology. 2015 Feb; 156(2):627-37.
journal title abbreviation: Endocrinology
publication date: 2014-11-25T00:00:00
year: 2014
type: Academic Article
type: Article
type: Document
type: Information Resource

A shared genetic basis for self-limited delayed puberty and idiopathic hypogonadotropic hypogonadism.
PubMed Identifier: 25636053
author list: Zhu J, Choa RE, Guo MH, Plummer L, Buck C, Palmert MR, Hirschhorn JN, Seminara SB, Chan YM
published in: The Journal of clinical endocrinology and metabolism
information resource reference: A shared genetic basis for self-limited delayed puberty and idiopathic hypogonadotropic hypogonadism. J Clin Endocrinol Metab. 2015 Apr; 100(4):E646-54.
journal title abbreviation: J Clin Endocrinol Metab
publication date: 2015-01-30T00:00:00
year: 2015
type: Academic Article
type: Article
type: Document
type: Information Resource

Authorship 317932
type: Authorship
author rank in publication: 6
linked author: Seminara, Stephanie
linked information resource: Olfactory phenotypic spectrum in idiopathic hypogonadotropic hypogonadism: pathophysiological and genetic implications.

Authorship 288076
type: Authorship
author rank in publication: 4
linked author: Seminara, Stephanie
linked information resource: Decrease in hypothalamic Kiss1 and Kiss1r expression: a potential mechanism for fasting-induced suppression of the HPG axis in the adult male rhesus monkey (Macaca mulatta).

Authorship 398743
type: Authorship
author rank in publication: 2
linked author: Seminara, Stephanie
linked information resource: The genetic and clinical heterogeneity of gonadotropin-releasing hormone deficiency in the human.

Authorship 454470
type: Authorship
author rank in publication: 3
linked author: Seminara, Stephanie
linked information resource: Characterization of the human nasal embryonic LHRH factor gene, NELF, and a mutation screening among 65 patients with idiopathic hypogonadotropic hypogonadism (IHH).

Authorship 468461
type: Authorship
author rank in publication: 2
linked author: Seminara, Stephanie
linked information resource: Effect of continuous intravenous administration of human metastin 45-54 on the neuroendocrine activity of the hypothalamic-pituitary-testicular axis in the adult male rhesus monkey (Macaca mulatta).

Authorship 173599
type: Authorship
author rank in publication: 1
linked author: Seminara, Stephanie
linked information resource: Hypogonadotropic hypogonadism and cerebellar ataxia: detailed phenotypic characterization of a large, extended kindred.

Authorship 293473
type: Authorship
author rank in publication: 4
linked author: Seminara, Stephanie
linked information resource: Interplay between dose and frequency of GnRH administration in determining pituitary gonadotropin responsiveness.

Authorship 388641
type: Authorship
author rank in publication: 1
linked author: Seminara, Stephanie
linked information resource: Amiodarone and the thyroid.

Authorship 416203
type: Authorship
author rank in publication: 1
linked author: Seminara, Stephanie
linked information resource: Growth hormone binding protein activity in obese children.

Authorship 444640
type: Authorship
author rank in publication: 26
linked author: Seminara, Stephanie
linked information resource: TAC3/TACR3 mutations reveal preferential activation of gonadotropin-releasing hormone release by neurokinin B in neonatal life followed by reversal in adulthood.

Authorship 485660
type: Authorship
author rank in publication: 3
linked author: Seminara, Stephanie
linked information resource: https://connects.catalyst.harvard.edu/Profiles/profile/1160381

Authorship 519899
type: Authorship
author rank in publication: 3
linked author: Seminara, Stephanie
linked information resource: Differential regulation of gonadotropin secretion by testosterone in the human male: absence of a negative feedback effect of testosterone on follicle-stimulating hormone secretion.

Authorship 532623
type: Authorship
author rank in publication: 1
linked author: Seminara, Stephanie
linked information resource: Gonadotropin-releasing hormone deficiency in the human (idiopathic hypogonadotropic hypogonadism and Kallmann's syndrome): pathophysiological and genetic considerations.

Authorship 8008
type: Authorship
author rank in publication: 6
linked author: Seminara, Stephanie
linked information resource: Mutational analysis of DAX1 in patients with hypogonadotropic hypogonadism or pubertal delay.

Authorship 73955
type: Authorship
author rank in publication: 13
linked author: Seminara, Stephanie
linked information resource: GNRH1 mutations in patients with idiopathic hypogonadotropic hypogonadism.

Rare Variants in Genes Implicated in GnRH Deficiency in Constitutional Delay of Puberty Patients
end date: 2012-07-27T00:00:00
start date: 2012-05-21T00:00:00
type: Mentoring - Completed Student Project
overview: Summer

Authorship 41020
type: Authorship
author rank in publication: 2
linked author: Seminara, Stephanie
linked information resource: Hypogonadotropic hypogonadism.

Authorship 419509
type: Authorship
author rank in publication: 1
linked author: Seminara, Stephanie
linked information resource: Successful use of pulsatile gonadotropin-releasing hormone (GnRH) for ovulation induction and pregnancy in a patient with GnRH receptor mutations.

Authorship 441108
type: Authorship
author rank in publication: 1
linked author: Seminara, Stephanie
linked information resource: Perspective: the importance of genetic defects in humans in elucidating the complexities of the hypothalamic-pituitary-gonadal axis.

Authorship 481302
type: Authorship
author rank in publication: 1
linked author: Seminara, Stephanie
linked information resource: https://connects.catalyst.harvard.edu/Profiles/profile/880334

Authorship 68086
type: Authorship
author rank in publication: 1
linked author: Seminara, Stephanie
linked information resource: The GPR54 gene as a regulator of puberty.

Authorship 72754
type: Authorship
author rank in publication: 1
linked author: Seminara, Stephanie
linked information resource: X-linked adrenal hypoplasia congenita: a mutation in DAX1 expands the phenotypic spectrum in males and females.

Associate Professor
sort order: 1
type: Faculty Rank

Full Professor
sort order: 0
type: Faculty Rank

Instructor
sort order: 4
type: Faculty Rank

Authorship 597884
type: Authorship
linked author: Seminara, Stephanie
linked information resource: Coding sequence analysis of GNRHR and GPR54 in patients with congenital and adult onset forms of hypogonadotropic hypogonadism

Stamou, Maria
eCommons Login: MS835
first name: Maria
last name: Stamou
full name: Maria Stamou, M.D.
has faculty rank: Instructor
Person ID: 151049
person in primary position: Instructor in Medicine
type: Agent
type: Person
preferred title: Instructor in Medicine

Authorship 599660
type: Authorship
linked author: Seminara, Stephanie
linked information resource: Physicians' Information and Education Resource (PIER)

Authorship 896157
type: Authorship
author rank in publication: 6
linked author: Seminara, Stephanie
linked information resource: Kisspeptin Responsiveness Signals Emergence of Reproductive Endocrine Activity: Implications for Human Puberty.

Kisspeptin Responsiveness Signals Emergence of Reproductive Endocrine Activity: Implications for Human Puberty.
PubMed Identifier: 27214398
author list: Lippincott MF, Chan YM, Delaney A, Rivera-Morales D, Butler JP, Seminara SB
published in: The Journal of clinical endocrinology and metabolism
information resource reference: Kisspeptin Responsiveness Signals Emergence of Reproductive Endocrine Activity: Implications for Human Puberty. J Clin Endocrinol Metab. 2016 08; 101(8):3061-9.
journal title abbreviation: J Clin Endocrinol Metab
publication date: 2016-05-23T00:00:00
year: 2016
type: Academic Article
type: Article
type: Document
type: Information Resource

Authorship 538568
type: Authorship
author rank in publication: 2
linked author: Seminara, Stephanie
linked information resource: https://connects.catalyst.harvard.edu/Profiles/profile/818668

Authorship 498100
type: Authorship
author rank in publication: 3
linked author: Seminara, Stephanie
linked information resource: Human GnRH deficiency: a unique disease model to unravel the ontogeny of GnRH neurons.

Authorship 557244
type: Authorship
author rank in publication: 9
linked author: Seminara, Stephanie
linked information resource: Kiss1-/- mice exhibit more variable hypogonadism than Gpr54-/- mice.

Authorship 595914
type: Authorship
linked author: Seminara, Stephanie
linked information resource: A GPR54 activating mutation is associated with gonadotropin dependent precocious puberty

SEX STEROID CONTROL OF LH AND FSH SECRETION
end date: 1900-01-01
principal investigator name: SEMINARA, STEPHANIE
start date: 1997-01-19
type: Grant
sponsor award id: F32HD008205

Harvard Reproductive Endocrine Sciences Center
end date: 2016-03-31
principal investigator name: CROWLEY, WILLIAM FRANCIS
start date: 1997-04-01
type: Grant
sponsor award id: U54HD028138

Kisspeptin Physiology in Human Reproduction
end date: 2016-08-31
principal investigator name: SEMINARA, STEPHANIE BETH
start date: 2011-09-10
type: Grant
sponsor award id: K24HD067388

Kisspeptin and Neurokinin B: Physiology in Monkey to Pathophysiology in Human
end date: 2020-07-31
principal investigator name: SEMINARA, STEPHANIE BETH
start date: 2003-04-01
type: Grant
sponsor award id: R01HD043341

Harvard Reproductive Endocrine Sciences Center
end date: 2021-03-31
principal investigator name: SEMINARA, STEPHANIE BETH
start date: 1997-04-01
type: Grant
sponsor award id: P50HD028138

Co-Principal Investigator
type: Researcher Role
researcher role of: Seminara, Stephanie
contributes to: Harvard Reproductive Endocrine Sciences Center

Principal Investigator
type: Researcher Role
researcher role of: Seminara, Stephanie
contributes to: Kisspeptin Physiology in Human Reproduction

Principal Investigator
type: Researcher Role
researcher role of: Seminara, Stephanie
contributes to: Kisspeptin and Neurokinin B: Physiology in Monkey to Pathophysiology in Human

Co-Principal Investigator
type: Researcher Role
researcher role of: Seminara, Stephanie
contributes to: Harvard Reproductive Endocrine Sciences Center

Principal Investigator
type: Researcher Role
researcher role of: Seminara, Stephanie
contributes to: SEX STEROID CONTROL OF LH AND FSH SECRETION

Authorship 628869
type: Authorship
linked author: Seminara, Stephanie
linked information resource: Mutations in prokineticin 2(PROK2) and PROK2 receptor (PROKR2) in human gonadotropin-releasing hormone deficiency: molecular genetics and clinical spectrum

Authorship 527750
type: Authorship
author rank in publication: 6
linked author: Seminara, Stephanie
linked information resource: Four naturally occurring mutations in the human GnRH receptor affect ligand binding and receptor function.

Authorship 228018
type: Authorship
author rank in publication: 1
linked author: Seminara, Stephanie
linked information resource: Unbiased transmission of mutant alleles at the human retinoblastoma locus.

Phenotypic spectrum of POLR3B mutations: isolated hypogonadotropic hypogonadism without neurological or dental anomalies.
PubMed Identifier: 27512013
author list: Richards MR, Plummer L, Chan YM, Lippincott MF, Quinton R, Kumanov P, Seminara SB
published in: Journal of medical genetics
information resource reference: Phenotypic spectrum of POLR3B mutations: isolated hypogonadotropic hypogonadism without neurological or dental anomalies. J Med Genet. 2017 01; 54(1):19-25.
journal title abbreviation: J Med Genet
publication date: 2016-08-10T00:00:00
year: 2016
type: Academic Article
type: Article
type: Document
type: Information Resource

Authorship 261784
type: Authorship
author rank in publication: 1
linked author: Seminara, Stephanie
linked information resource: We all remember our first kiss: kisspeptin and the male gonadal axis.

Authorship 350999
type: Authorship
author rank in publication: 3
linked author: Seminara, Stephanie
linked information resource: Deciphering genetic disease in the genomic era: the model of GnRH deficiency.

Authorship 362984
type: Authorship
author rank in publication: 2
linked author: Seminara, Stephanie
linked information resource: Kisspeptin and the hypothalamic control of reproduction: lessons from the human.

Authorship 375890
type: Authorship
author rank in publication: 3
linked author: Seminara, Stephanie
linked information resource: Kisspeptin and clinical disorders.

Authorship 941377
type: Authorship
author rank in publication: 7
linked author: Seminara, Stephanie
linked information resource: Phenotypic spectrum of POLR3B mutations: isolated hypogonadotropic hypogonadism without neurological or dental anomalies.

Authorship 948864
type: Authorship
author rank in publication: 65
linked author: Seminara, Stephanie
linked information resource: SMCHD1 mutations associated with a rare muscular dystrophy can also cause isolated arhinia and Bosma arhinia microphthalmia syndrome.

SMCHD1 mutations associated with a rare muscular dystrophy can also cause isolated arhinia and Bosma arhinia microphthalmia syndrome.
PubMed Identifier: 28067909
author list: Shaw ND, Brand H, Kupchinsky ZA, Bengani H, Plummer L, Jones TI, Erdin S, Williamson KA, Rainger J, Stortchevoi A, Samocha K, Currall BB, Dunican DS, Collins RL, Willer JR, Lek A, Lek M, Nassan M, Pereira S, Kammin T, Lucente D, Silva A, Seabra CM, Chiang C, An Y, Ansari M, Rainger JK, Joss S, Smith JC, Lippincott MF, Singh SS, Patel N, Jing JW, Law JR, Ferraro N, Verloes A, Rauch A, Steindl K, Zweier M, Scheer I, Sato D, Okamoto N, Jacobsen C, Tryggestad J, Chernausek S, Schimmenti LA, Brasseur B, Cesaretti C, García-Ortiz JE, Buitrago TP, Silva OP, Hoffman JD, Mühlbauer W, Ruprecht KW, Loeys BL, Shino M, Kaindl AM, Cho CH, Morton CC, Meehan RR, van Heyningen V, Liao EC, Balasubramanian R, Hall JE, Seminara SB, Macarthur D, Moore SA, Yoshiura KI, Gusella JF, Marsh JA, Graham JM, Lin AE, Katsanis N, Jones PL, Crowley WF, Davis EE, FitzPatrick DR, Talkowski ME
published in: Nature genetics
information resource reference: SMCHD1 mutations associated with a rare muscular dystrophy can also cause isolated arhinia and Bosma arhinia microphthalmia syndrome. Nat Genet. 2017 Feb; 49(2):238-248.
journal title abbreviation: Nat Genet
publication date: 2017-01-09T00:00:00
year: 2017
type: Academic Article
type: Article
type: Document
type: Information Resource

Authorship 589165
type: Authorship
linked author: Seminara, Stephanie
linked information resource: Mechanisms of disease: the first kiss--a crucial role for kisspeptin-1 and its receptor, G protein coupled receptor 54, in puberty and reproduction

The genetics of IHH--a paradox.
PubMed Identifier: 11531920
author list: Seminara S, Crowley WF
published in: Clinical endocrinology
information resource reference: The genetics of IHH--a paradox. Clin Endocrinol (Oxf). 2001 Aug; 55(2):159-60.
journal title abbreviation: Clin Endocrinol (Oxf)
publication date: 2001-08-01T00:00:00
year: 2001
type: Academic Article
type: Article
type: Document
type: Information Resource

The role of prior pubertal development, biochemical markers of testicular maturation, and genetics in elucidating the phenotypic heterogeneity of idiopathic hypogonadotropic hypogonadism.
PubMed Identifier: 11788640
author list: Pitteloud N, Hayes FJ, Boepple PA, DeCruz S, Seminara SB, MacLaughlin DT, Crowley WF
published in: The Journal of clinical endocrinology and metabolism
information resource reference: The role of prior pubertal development, biochemical markers of testicular maturation, and genetics in elucidating the phenotypic heterogeneity of idiopathic hypogonadotropic hypogonadism. J Clin Endocrinol Metab. 2002 Jan; 87(1):152-60.
journal title abbreviation: J Clin Endocrinol Metab
publication date: 2002-01-01T00:00:00
year: 2002
type: Academic Article
type: Article
type: Document
type: Information Resource

New gatekeepers of reproduction: GPR54 and its cognate ligand, KiSS-1.
PubMed Identifier: 15769900
author list: Seminara SB, Kaiser UB
published in: Endocrinology
information resource reference: New gatekeepers of reproduction: GPR54 and its cognate ligand, KiSS-1. Endocrinology. 2005 Apr; 146(4):1686-8.
journal title abbreviation: Endocrinology
publication date: 2005-04-01T00:00:00
year: 2005
type: Academic Article
type: Article
type: Document
type: Information Resource

Mutational analysis of DAX1 in patients with hypogonadotropic hypogonadism or pubertal delay.
PubMed Identifier: 10599708
author list: Achermann JC, Gu WX, Kotlar TJ, Meeks JJ, Sabacan LP, Seminara SB, Habiby RL, Hindmarsh PC, Bick DP, Sherins RJ, Crowley WF, Layman LC, Jameson JL
published in: The Journal of clinical endocrinology and metabolism
information resource reference: Mutational analysis of DAX1 in patients with hypogonadotropic hypogonadism or pubertal delay. J Clin Endocrinol Metab. 1999 Dec; 84(12):4497-500.
journal title abbreviation: J Clin Endocrinol Metab
publication date: 1999-12-01T00:00:00
year: 1999
type: Academic Article
type: Article
type: Document
type: Information Resource

Perspective: the importance of genetic defects in humans in elucidating the complexities of the hypothalamic-pituitary-gonadal axis.
PubMed Identifier: 11356659
author list: Seminara SB, Crowley WF
published in: Endocrinology
information resource reference: Perspective: the importance of genetic defects in humans in elucidating the complexities of the hypothalamic-pituitary-gonadal axis. Endocrinology. 2001 Jun; 142(6):2173-7.
journal title abbreviation: Endocrinology
publication date: 2001-06-01T00:00:00
year: 2001
type: Academic Article
type: Article
type: Document
type: Information Resource

https://connects.catalyst.harvard.edu/Profiles/profile/758895
PubMed Identifier: 15240592
author list: Meysing AU, Kanasaki H, Bedecarrats GY, Acierno JS, Conn PM, Martin KA, Seminara SB, Hall JE, Crowley WF, Kaiser UB
published in: The Journal of clinical endocrinology and metabolism
information resource reference: GNRHR mutations in a woman with idiopathic hypogonadotropic hypogonadism highlight the differential sensitivity of luteinizing hormone and follicle-stimulating hormone to gonadotropin-releasing hormone. J Clin Endocrinol Metab. 2004 Jul; 89(7):3189-98.
journal title abbreviation: J Clin Endocrinol Metab
publication date: 2004-07-01T00:00:00
year: 2004
type: Academic Article
type: Article
type: Document
type: Information Resource
label: GNRHR mutations in a woman with idiopathic hypogonadotropic hypogonadism highlight the differential sensitivity of luteinizing hormone and follicle-stimulating hormone to gonadotropin-releasing hormone.

Kallmann syndrome in a 47,XXX patient.
PubMed Identifier: 16222664
author list: Corssmit EP, Seminara SB, Pitteloud N, Fliers E
published in: American journal of medical genetics. Part A
information resource reference: Kallmann syndrome in a 47,XXX patient. Am J Med Genet A. 2005 Nov 15; 139(1):52-3.
journal title abbreviation: Am J Med Genet A
publication date: 2005-11-15T00:00:00
year: 2005
type: Academic Article
type: Article
type: Document
type: Information Resource

New genes controlling human reproduction and how you find them.
PubMed Identifier: 18596868
author list: Crowley WF, Pitteloud N, Seminara S
published in: Transactions of the American Clinical and Climatological Association
information resource reference: New genes controlling human reproduction and how you find them. Trans Am Clin Climatol Assoc. 2008; 119:29-37; discussion 37-8.
journal title abbreviation: Trans Am Clin Climatol Assoc
publication date: 2008-01-01T00:00:00
year: 2008
type: Academic Article
type: Article
type: Document
type: Information Resource

Authorship 976138
type: Authorship
author rank in publication: 4
linked author: Seminara, Stephanie
linked information resource: Continuous Kisspeptin Administration in Postmenopausal Women: Impact of Estradiol on Luteinizing Hormone Secretion.

Continuous Kisspeptin Administration in Postmenopausal Women: Impact of Estradiol on Luteinizing Hormone Secretion.
PubMed Identifier: 28368443
author list: Lippincott MF, Chan YM, Rivera Morales D, Seminara SB
published in: The Journal of clinical endocrinology and metabolism
information resource reference: Continuous Kisspeptin Administration in Postmenopausal Women: Impact of Estradiol on Luteinizing Hormone Secretion. J Clin Endocrinol Metab. 2017 06 01; 102(6):2091-2099.
journal title abbreviation: J Clin Endocrinol Metab
publication date: 2017-06-01T00:00:00
year: 2017
type: Academic Article
type: Article
type: Document
type: Information Resource

Coding sequence analysis of GNRHR and GPR54 in patients with congenital and adult-onset forms of hypogonadotropic hypogonadism.
PubMed Identifier: 17074994
author list: Cerrato F, Shagoury J, Kralickova M, Dwyer A, Falardeau J, Ozata M, Van Vliet G, Bouloux P, Hall JE, Hayes FJ, Pitteloud N, Martin KA, Welt C, Seminara SB
published in: European journal of endocrinology
information resource reference: Coding sequence analysis of GNRHR and GPR54 in patients with congenital and adult-onset forms of hypogonadotropic hypogonadism. Eur J Endocrinol. 2006 Nov; 155 Suppl 1:S3-S10.
journal title abbreviation: Eur J Endocrinol
publication date: 2006-11-01T00:00:00
year: 2006
type: Academic Article
type: Article
type: Document
type: Information Resource

Gonadotropin-releasing hormone deficiency in the human (idiopathic hypogonadotropic hypogonadism and Kallmann's syndrome): pathophysiological and genetic considerations.
PubMed Identifier: 9793755
author list: Seminara SB, Hayes FJ, Crowley WF
published in: Endocrine reviews
information resource reference: Gonadotropin-releasing hormone deficiency in the human (idiopathic hypogonadotropic hypogonadism and Kallmann's syndrome): pathophysiological and genetic considerations. Endocr Rev. 1998 Oct; 19(5):521-39.
journal title abbreviation: Endocr Rev
publication date: 1998-10-01T00:00:00
year: 1998
type: Academic Article
type: Article
type: Document
type: Information Resource

Oligogenic basis of isolated gonadotropin-releasing hormone deficiency.
PubMed Identifier: 20696889
author list: Sykiotis GP, Plummer L, Hughes VA, Au M, Durrani S, Nayak-Young S, Dwyer AA, Quinton R, Hall JE, Gusella JF, Seminara SB, Crowley WF, Pitteloud N
published in: Proceedings of the National Academy of Sciences of the United States of America
information resource reference: Oligogenic basis of isolated gonadotropin-releasing hormone deficiency. Proc Natl Acad Sci U S A. 2010 Aug 24; 107(34):15140-4.
journal title abbreviation: Proc Natl Acad Sci U S A
publication date: 2010-08-09T00:00:00
year: 2010
type: Academic Article
type: Article
type: Document
type: Information Resource

Transcript & Tutor Guide "Pumped Up"
author list: Seminara S, McMahon,G.
published in: Transcript & Tutor Guide "Pumped Up"
information resource reference: Transcript & Tutor Guide "Pumped Up". 2004.
publication date: 2004-03-01T00:00:00
year: 2004
type: Academic Article
type: Article
type: Document
type: Information Resource

The Reproductive Endocrine Associates of the Massachusetts General Hospital: fifteen years of integrated clinical practice and investigation.
PubMed Identifier: 10372686
author list: Seminara SB, Hall JE, Taylor AE, Crowley WF, Martin KA
published in: The Journal of clinical endocrinology and metabolism
information resource reference: The Reproductive Endocrine Associates of the Massachusetts General Hospital: fifteen years of integrated clinical practice and investigation. J Clin Endocrinol Metab. 1999 Jun; 84(6):1912-8.
journal title abbreviation: J Clin Endocrinol Metab
publication date: 1999-06-01T00:00:00
year: 1999
type: Academic Article
type: Article
type: Document
type: Information Resource

Aromatase inhibition in the human male reveals a hypothalamic site of estrogen feedback.
PubMed Identifier: 10999781
author list: Hayes FJ, Seminara SB, Decruz S, Boepple PA, Crowley WF
published in: The Journal of clinical endocrinology and metabolism
information resource reference: Aromatase inhibition in the human male reveals a hypothalamic site of estrogen feedback. J Clin Endocrinol Metab. 2000 Sep; 85(9):3027-35.
journal title abbreviation: J Clin Endocrinol Metab
publication date: 2000-09-01T00:00:00
year: 2000
type: Academic Article
type: Article
type: Document
type: Information Resource

Genetics of hypogonadotropic hypogonadism.
PubMed Identifier: 11079449
author list: Seminara SB, Oliveira LM, Beranova M, Hayes FJ, Crowley WF
published in: Journal of endocrinological investigation
information resource reference: Genetics of hypogonadotropic hypogonadism. J Endocrinol Invest. 2000 Oct; 23(9):560-5.
journal title abbreviation: J Endocrinol Invest
publication date: 2000-10-01T00:00:00
year: 2000
type: Academic Article
type: Article
type: Document
type: Information Resource

Hypogonadotropic hypogonadism.
PubMed Identifier: 9922906
author list: Hayes FJ, Seminara SB, Crowley WF
published in: Endocrinology and metabolism clinics of North America
information resource reference: Hypogonadotropic hypogonadism. Endocrinol Metab Clin North Am. 1998 Dec; 27(4):739-63, vii.
journal title abbreviation: Endocrinol Metab Clin North Am
publication date: 1998-12-01T00:00:00
year: 1998
type: Academic Article
type: Article
type: Document
type: Information Resource

Kisspeptin/Gpr54-independent gonadotrophin-releasing hormone activity in Kiss1 and Gpr54 mutant mice.
PubMed Identifier: 19840236
author list: Chan YM, Broder-Fingert S, Wong KM, Seminara SB
published in: Journal of neuroendocrinology
information resource reference: Kisspeptin/Gpr54-independent gonadotrophin-releasing hormone activity in Kiss1 and Gpr54 mutant mice. J Neuroendocrinol. 2009 Dec; 21(12):1015-23.
journal title abbreviation: J Neuroendocrinol
publication date: 2009-10-14T00:00:00
year: 2009
type: Academic Article
type: Article
type: Document
type: Information Resource

https://connects.catalyst.harvard.edu/Profiles/profile/818668
PubMed Identifier: 21832818
author list: Ramaswamy S, Seminara SB, Plant TM
published in: Neuroendocrinology
information resource reference: Evidence from the agonadal juvenile male rhesus monkey (Macaca mulatta) for the view that the action of neurokinin B to trigger gonadotropin-releasing hormone release is upstream from the kisspeptin receptor. Neuroendocrinology. 2011; 94(3):237-45.
journal title abbreviation: Neuroendocrinology
publication date: 2011-08-10T00:00:00
year: 2011
type: Academic Article
type: Article
type: Document
type: Information Resource
label: Evidence from the agonadal juvenile male rhesus monkey (Macaca mulatta) for the view that the action of neurokinin B to trigger gonadotropin-releasing hormone release is upstream from the kisspeptin receptor.

Increased hypothalamic GPR54 signaling: a potential mechanism for initiation of puberty in primates.
PubMed Identifier: 15684075
author list: Shahab M, Mastronardi C, Seminara SB, Crowley WF, Ojeda SR, Plant TM
published in: Proceedings of the National Academy of Sciences of the United States of America
information resource reference: Increased hypothalamic GPR54 signaling: a potential mechanism for initiation of puberty in primates. Proc Natl Acad Sci U S A. 2005 Feb 08; 102(6):2129-34.
journal title abbreviation: Proc Natl Acad Sci U S A
publication date: 2005-01-31T00:00:00
year: 2005
type: Academic Article
type: Article
type: Document
type: Information Resource

Peripheral and central hypomyelination with hypogonadotropic hypogonadism and hypodontia.
PubMed Identifier: 17159124
author list: Timmons M, Tsokos M, Asab MA, Seminara SB, Zirzow GC, Kaneski CR, Heiss JD, van der Knaap MS, Vanier MT, Schiffmann R, Wong K
published in: Neurology
information resource reference: Peripheral and central hypomyelination with hypogonadotropic hypogonadism and hypodontia. Neurology. 2006 Dec 12; 67(11):2066-9.
journal title abbreviation: Neurology
publication date: 2006-12-12T00:00:00
year: 2006
type: Academic Article
type: Article
type: Document
type: Information Resource

Authorship 986074
type: Authorship
author rank in publication: 65
linked author: Seminara, Stephanie
linked information resource: Corrigendum: SMCHD1 mutations associated with a rare muscular dystrophy can also cause isolated arhinia and Bosma arhinia microphthalmia syndrome.

Corrigendum: SMCHD1 mutations associated with a rare muscular dystrophy can also cause isolated arhinia and Bosma arhinia microphthalmia syndrome.
PubMed Identifier: 28546579
author list: Shaw ND, Brand H, Kupchinsky ZA, Bengani H, Plummer L, Jones TI, Erdin S, Williamson KA, Rainger J, Stortchevoi A, Samocha K, Currall BB, Dunican DS, Collins RL, Willer JR, Lek A, Lek M, Nassan M, Pereira S, Kammin T, Lucente D, Silva A, Seabra CM, Chiang C, An Y, Ansari M, Rainger JK, Joss S, Smith JC, Lippincott MF, Singh SS, Patel N, Jing JW, Law JR, Ferraro N, Verloes A, Rauch A, Steindl K, Zweier M, Scheer I, Sato D, Okamoto N, Jacobsen C, Tryggestad J, Chernausek S, Schimmenti LA, Brasseur B, Cesaretti C, García-Ortiz JE, Buitrago TP, Silva OP, Hoffman JD, Mühlbauer W, Ruprecht KW, Loeys BL, Shino M, Kaindl AM, Cho CH, Morton CC, Meehan RR, van Heyningen V, Liao EC, Balasubramanian R, Hall JE, Seminara SB, Macarthur D, Moore SA, Yoshiura KI, Gusella JF, Marsh JA, Graham JM, Lin AE, Katsanis N, Jones PL, Crowley WF, Davis EE, FitzPatrick DR, Talkowski ME
published in: Nature genetics
information resource reference: Corrigendum: SMCHD1 mutations associated with a rare muscular dystrophy can also cause isolated arhinia and Bosma arhinia microphthalmia syndrome. Nat Genet. 2017 05 26; 49(6):969.
journal title abbreviation: Nat Genet
publication date: 2017-05-26T00:00:00
year: 2017
type: Academic Article
type: Article
type: Document
type: Information Resource

Growth hormone binding protein activity in obese children.
PubMed Identifier: 9766258
author list: Seminara S, Filpo A, La Cauza F, Faedda A, Miola A, Pellizzone S, Casati M, Loche S
published in: Journal of endocrinological investigation
information resource reference: Growth hormone binding protein activity in obese children. J Endocrinol Invest. 1998 Jul-Aug; 21(7):441-4.
journal title abbreviation: J Endocrinol Invest
publication date: 1998-07-01T00:00:00
year: 1998
type: Academic Article
type: Article
type: Document
type: Information Resource

Mutations in prokineticin 2 and prokineticin receptor 2 genes in human gonadotrophin-releasing hormone deficiency: molecular genetics and clinical spectrum.
PubMed Identifier: 18559922
author list: Cole LW, Sidis Y, Zhang C, Quinton R, Plummer L, Pignatelli D, Hughes VA, Dwyer AA, Raivio T, Hayes FJ, Seminara SB, Huot C, Alos N, Speiser P, Takeshita A, Van Vliet G, Pearce S, Crowley WF, Zhou QY, Pitteloud N
published in: The Journal of clinical endocrinology and metabolism
information resource reference: Mutations in prokineticin 2 and prokineticin receptor 2 genes in human gonadotrophin-releasing hormone deficiency: molecular genetics and clinical spectrum. J Clin Endocrinol Metab. 2008 Sep; 93(9):3551-9.
journal title abbreviation: J Clin Endocrinol Metab
publication date: 2008-06-17T00:00:00
year: 2008
type: Academic Article
type: Article
type: Document
type: Information Resource

Converging at puberty's hub.
PubMed Identifier: 17940187
author list: Seminara SB
published in: Endocrinology
information resource reference: Converging at puberty's hub. Endocrinology. 2007 Nov; 148(11):5145-6.
journal title abbreviation: Endocrinology
publication date: 2007-11-01T00:00:00
year: 2007
type: Academic Article
type: Article
type: Document
type: Information Resource

The importance of autosomal genes in Kallmann syndrome: genotype-phenotype correlations and neuroendocrine characteristics.
PubMed Identifier: 11297579
author list: Oliveira LM, Seminara SB, Beranova M, Hayes FJ, Valkenburgh SB, Schipani E, Costa EM, Latronico AC, Crowley WF, Vallejo M
published in: The Journal of clinical endocrinology and metabolism
information resource reference: The importance of autosomal genes in Kallmann syndrome: genotype-phenotype correlations and neuroendocrine characteristics. J Clin Endocrinol Metab. 2001 Apr; 86(4):1532-8.
journal title abbreviation: J Clin Endocrinol Metab
publication date: 2001-04-01T00:00:00
year: 2001
type: Academic Article
type: Article
type: Document
type: Information Resource

Neurokinin B stimulates GnRH release in the male monkey (Macaca mulatta) and is colocalized with kisspeptin in the arcuate nucleus.
PubMed Identifier: 20573725
author list: Ramaswamy S, Seminara SB, Ali B, Ciofi P, Amin NA, Plant TM
published in: Endocrinology
information resource reference: Neurokinin B stimulates GnRH release in the male monkey (Macaca mulatta) and is colocalized with kisspeptin in the arcuate nucleus. Endocrinology. 2010 Sep; 151(9):4494-503.
journal title abbreviation: Endocrinology
publication date: 2010-06-23T00:00:00
year: 2010
type: Academic Article
type: Article
type: Document
type: Information Resource

A role for kisspeptins in the regulation of gonadotropin secretion in the mouse.
PubMed Identifier: 15217982
author list: Gottsch ML, Cunningham MJ, Smith JT, Popa SM, Acohido BV, Crowley WF, Seminara S, Clifton DK, Steiner RA
published in: Endocrinology
information resource reference: A role for kisspeptins in the regulation of gonadotropin secretion in the mouse. Endocrinology. 2004 Sep; 145(9):4073-7.
journal title abbreviation: Endocrinology
publication date: 2004-06-24T00:00:00
year: 2004
type: Academic Article
type: Article
type: Document
type: Information Resource

Human genetics of GPR54.
PubMed Identifier: 17334928
author list: Cerrato F, Seminara SB
published in: Reviews in endocrine & metabolic disorders
information resource reference: Human genetics of GPR54. Rev Endocr Metab Disord. 2007 Mar; 8(1):47-55.
journal title abbreviation: Rev Endocr Metab Disord
publication date: 2007-03-01T00:00:00
year: 2007
type: Academic Article
type: Article
type: Document
type: Information Resource

Growth hormone (GH) response to GH-releasing hormone in short children: lack of correlation with endogenous nocturnal GH secretion.
PubMed Identifier: 9186816
author list: Seminara S, Filpo A, Piccinini P, La Cauza F, Cappa M, Faedda A, Loche S
published in: Journal of endocrinological investigation
information resource reference: Growth hormone (GH) response to GH-releasing hormone in short children: lack of correlation with endogenous nocturnal GH secretion. J Endocrinol Invest. 1997 Mar; 20(3):118-21.
journal title abbreviation: J Endocrinol Invest
publication date: 1997-03-01T00:00:00
year: 1997
type: Academic Article
type: Article
type: Document
type: Information Resource

A genetic basis for functional hypothalamic amenorrhea.
PubMed Identifier: 21247312
author list: Caronia LM, Martin C, Welt CK, Sykiotis GP, Quinton R, Thambundit A, Avbelj M, Dhruvakumar S, Plummer L, Hughes VA, Seminara SB, Boepple PA, Sidis Y, Crowley WF, Martin KA, Hall JE, Pitteloud N
published in: The New England journal of medicine
information resource reference: A genetic basis for functional hypothalamic amenorrhea. N Engl J Med. 2011 Jan 20; 364(3):215-25.
journal title abbreviation: N Engl J Med
publication date: 2011-01-20T00:00:00
year: 2011
type: Academic Article
type: Article
type: Document
type: Information Resource

Kisspeptin resets the hypothalamic GnRH clock in men.
PubMed Identifier: 21470997
author list: Chan YM, Butler JP, Pinnell NE, Pralong FP, Crowley WF, Ren C, Chan KK, Seminara SB
published in: The Journal of clinical endocrinology and metabolism
information resource reference: Kisspeptin resets the hypothalamic GnRH clock in men. J Clin Endocrinol Metab. 2011 Jun; 96(6):E908-15.
journal title abbreviation: J Clin Endocrinol Metab
publication date: 2011-04-06T00:00:00
year: 2011
type: Academic Article
type: Article
type: Document
type: Information Resource

The kisspeptin signaling pathway and its role in human isolated GnRH deficiency.
PubMed Identifier: 21704672
author list: Wahab F, Quinton R, Seminara SB
published in: Molecular and cellular endocrinology
information resource reference: The kisspeptin signaling pathway and its role in human isolated GnRH deficiency. Mol Cell Endocrinol. 2011 Oct 22; 346(1-2):29-36.
journal title abbreviation: Mol Cell Endocrinol
publication date: 2011-06-17T00:00:00
year: 2011
type: Academic Article
type: Article
type: Document
type: Information Resource

Thyroid hormones low levels in insulin-dependent diabetic young people.
PubMed Identifier: 2809095
author list: Becherucci P, Seminara S, Paoletti I, Galluzzi F, Martinucci ME, Medici A, Parpagnoli M, Toni S, Bernardini S, Chiccoli A
published in: Journal of endocrinological investigation
information resource reference: Thyroid hormones low levels in insulin-dependent diabetic young people. J Endocrinol Invest. 1989; 12(8 Suppl 3):151-2.
journal title abbreviation: J Endocrinol Invest
publication date: 1989-01-01T00:00:00
year: 1989
type: Academic Article
type: Article
type: Document
type: Information Resource

Mutations in prokineticin 2(PROK2) and PROK2 receptor (PROKR2) in human gonadotropin-releasing hormone deficiency: molecular genetics and clinical spectrum
author list: Cole LW, Sidis Y, Zhang C, Quinton R, Plummer L, Pignatelli D, Hughes VA, Dwyer AA, Raivio T, Hayes FJ, Seminara SB, Huot C, Alos N, Speiser P, Takeshita A, Van Vliet G, Pearce S, Crowley WF Jr, Zhou QY, Pitteloud N
published in: J Clin Endocrinol Metab
information resource reference: Mutations in prokineticin 2(PROK2) and PROK2 receptor (PROKR2) in human gonadotropin-releasing hormone deficiency: molecular genetics and clinical spectrum. J Clin Endocrinol Metab. 2008; 93(9):3551-9.
publication date: 2008-06-17T00:00:00
year: 2008
type: Academic Article
type: Article
type: Document
type: Information Resource

A case of Kallmann syndrome carrying a missense mutation in alternatively spliced exon 8A encoding the immunoglobulin-like domain IIIb of fibroblast growth factor receptor 1.
PubMed Identifier: 20139426
author list: Miura K, Miura S, Yoshiura K, Seminara S, Hamaguchi D, Niikawa N, Masuzaki H
published in: Human reproduction (Oxford, England)
information resource reference: A case of Kallmann syndrome carrying a missense mutation in alternatively spliced exon 8A encoding the immunoglobulin-like domain IIIb of fibroblast growth factor receptor 1. Hum Reprod. 2010 Apr; 25(4):1076-80.
journal title abbreviation: Hum Reprod
publication date: 2010-02-06T00:00:00
year: 2010
type: Academic Article
type: Article
type: Document
type: Information Resource

55 Fruit St
type: Address
address line 1: Massachusetts General Hospital
address line 2: Reproductive Endocrinology, BHX 505
address line 3: 55 Fruit St
city: Boston
postal code: 02114
state or province: MA

https://connects.catalyst.harvard.edu/Profiles/profile/880334
PubMed Identifier: 16469799
author list: Seminara SB, Dipietro MJ, Ramaswamy S, Crowley WF, Plant TM
published in: Endocrinology
information resource reference: Continuous human metastin 45-54 infusion desensitizes G protein-coupled receptor 54-induced gonadotropin-releasing hormone release monitored indirectly in the juvenile male Rhesus monkey (Macaca mulatta): a finding with therapeutic implications. Endocrinology. 2006 May; 147(5):2122-6.
journal title abbreviation: Endocrinology
publication date: 2006-02-09T00:00:00
year: 2006
type: Academic Article
type: Article
type: Document
type: Information Resource
label: Continuous human metastin 45-54 infusion desensitizes G protein-coupled receptor 54-induced gonadotropin-releasing hormone release monitored indirectly in the juvenile male Rhesus monkey (Macaca mulatta): a finding with therapeutic implications.

Successful use of pulsatile gonadotropin-releasing hormone (GnRH) for ovulation induction and pregnancy in a patient with GnRH receptor mutations.
PubMed Identifier: 10690855
author list: Seminara SB, Beranova M, Oliveira LM, Martin KA, Crowley WF, Hall JE
published in: The Journal of clinical endocrinology and metabolism
information resource reference: Successful use of pulsatile gonadotropin-releasing hormone (GnRH) for ovulation induction and pregnancy in a patient with GnRH receptor mutations. J Clin Endocrinol Metab. 2000 Feb; 85(2):556-62.
journal title abbreviation: J Clin Endocrinol Metab
publication date: 2000-02-01T00:00:00
year: 2000
type: Academic Article
type: Article
type: Document
type: Information Resource

Kisspeptin in reproduction.
PubMed Identifier: 17710729
author list: Seminara SB
published in: Seminars in reproductive medicine
information resource reference: Kisspeptin in reproduction. Semin Reprod Med. 2007 Sep; 25(5):337-43.
journal title abbreviation: Semin Reprod Med
publication date: 2007-09-01T00:00:00
year: 2007
type: Academic Article
type: Article
type: Document
type: Information Resource

Inhibin B in males with gonadotropin-releasing hormone (GnRH) deficiency: changes in serum concentration after shortterm physiologic GnRH replacement--a clinical research center study.
PubMed Identifier: 8855824
author list: Seminara SB, Boepple PA, Nachtigall LB, Pralong FP, Khoury RH, Sluss PM, Lecain AE, Crowley WF
published in: The Journal of clinical endocrinology and metabolism
information resource reference: Inhibin B in males with gonadotropin-releasing hormone (GnRH) deficiency: changes in serum concentration after shortterm physiologic GnRH replacement--a clinical research center study. J Clin Endocrinol Metab. 1996 Oct; 81(10):3692-6.
journal title abbreviation: J Clin Endocrinol Metab
publication date: 1996-10-01T00:00:00
year: 1996
type: Academic Article
type: Article
type: Document
type: Information Resource

Effect of long-term growth hormone treatment on carbohydrate metabolism in children with growth hormone deficiency.
PubMed Identifier: 9797856
author list: Seminara S, Merello G, Masi S, Filpo A, La Cauza F, D'Onghia G, Martelli E, Loche S
published in: Clinical endocrinology
information resource reference: Effect of long-term growth hormone treatment on carbohydrate metabolism in children with growth hormone deficiency. Clin Endocrinol (Oxf). 1998 Jul; 49(1):125-30.
journal title abbreviation: Clin Endocrinol (Oxf)
publication date: 1998-07-01T00:00:00
year: 1998
type: Academic Article
type: Article
type: Document
type: Information Resource

Learning from the Literature
author list: Seminara SB
published in: Learning from the Literature
information resource reference: Learning from the Literature. 2004.
publication date: 2004-05-01T00:00:00
year: 2004
type: Academic Article
type: Article
type: Document
type: Information Resource

Authorship 1015997
type: Authorship
author rank in publication: 5
linked author: Seminara, Stephanie
linked information resource: Kisspeptin and Neurokinin B Signaling Network Underlies the Pubertal Increase in GnRH Release in Female Rhesus Monkeys.

Kisspeptin and Neurokinin B Signaling Network Underlies the Pubertal Increase in GnRH Release in Female Rhesus Monkeys.
PubMed Identifier: 28977601
author list: Garcia JP, Guerriero KA, Keen KL, Kenealy BP, Seminara SB, Terasawa E
published in: Endocrinology
information resource reference: Kisspeptin and Neurokinin B Signaling Network Underlies the Pubertal Increase in GnRH Release in Female Rhesus Monkeys. Endocrinology. 2017 10 01; 158(10):3269-3280.
journal title abbreviation: Endocrinology
publication date: 2017-10-01T00:00:00
year: 2017
type: Academic Article
type: Article
type: Document
type: Information Resource

Kiss1-/- mice exhibit more variable hypogonadism than Gpr54-/- mice.
PubMed Identifier: 17595229
author list: Lapatto R, Pallais JC, Zhang D, Chan YM, Mahan A, Cerrato F, Le WW, Hoffman GE, Seminara SB
published in: Endocrinology
information resource reference: Kiss1-/- mice exhibit more variable hypogonadism than Gpr54-/- mice. Endocrinology. 2007 Oct; 148(10):4927-36.
journal title abbreviation: Endocrinology
publication date: 2007-06-26T00:00:00
year: 2007
type: Academic Article
type: Article
type: Document
type: Information Resource

Characterization of the human nasal embryonic LHRH factor gene, NELF, and a mutation screening among 65 patients with idiopathic hypogonadotropic hypogonadism (IHH).
PubMed Identifier: 15362570
author list: Miura K, Acierno JS, Seminara SB
published in: Journal of human genetics
information resource reference: Characterization of the human nasal embryonic LHRH factor gene, NELF, and a mutation screening among 65 patients with idiopathic hypogonadotropic hypogonadism (IHH). J Hum Genet. 2004; 49(5):265-8.
journal title abbreviation: J Hum Genet
publication date: 2004-01-01T00:00:00
year: 2004
type: Academic Article
type: Article
type: Document
type: Information Resource

Metastin and its G protein-coupled receptor, GPR54: critical pathway modulating GnRH secretion.
PubMed Identifier: 16309735
author list: Seminara SB
published in: Frontiers in neuroendocrinology
information resource reference: Metastin and its G protein-coupled receptor, GPR54: critical pathway modulating GnRH secretion. Front Neuroendocrinol. 2005 Oct-Dec; 26(3-4):131-8.
journal title abbreviation: Front Neuroendocrinol
publication date: 2005-11-23T00:00:00
year: 2005
type: Academic Article
type: Article
type: Document
type: Information Resource

Effect of continuous intravenous administration of human metastin 45-54 on the neuroendocrine activity of the hypothalamic-pituitary-testicular axis in the adult male rhesus monkey (Macaca mulatta).
PubMed Identifier: 17412800
author list: Ramaswamy S, Seminara SB, Pohl CR, DiPietro MJ, Crowley WF, Plant TM
published in: Endocrinology
information resource reference: Effect of continuous intravenous administration of human metastin 45-54 on the neuroendocrine activity of the hypothalamic-pituitary-testicular axis in the adult male rhesus monkey (Macaca mulatta). Endocrinology. 2007 Jul; 148(7):3364-70.
journal title abbreviation: Endocrinology
publication date: 2007-04-05T00:00:00
year: 2007
type: Academic Article
type: Article
type: Document
type: Information Resource

A GPR54 activating mutation is associated with gonadotropin dependent precocious puberty
author list: Teles MG, Bianco SDC, Brito VN, Trarbach E, Kuohung W, Xu S, Seminara SB, Mendonca B, Kaiser UB, Latronico AC
published in: N Engl J Med
information resource reference: A GPR54 activating mutation is associated with gonadotropin dependent precocious puberty. N Engl J Med. 2008; 358(7):709-715.
publication date: 2008-02-14T00:00:00
year: 2008
type: Academic Article
type: Article
type: Document
type: Information Resource

Hypogonadotrophic hypogonadism: a unique biological opportunity.
PubMed Identifier: 10583302
author list: Seminara S, Crowley WF
published in: Clinical endocrinology
information resource reference: Hypogonadotrophic hypogonadism: a unique biological opportunity. Clin Endocrinol (Oxf). 1999 Oct; 51(4):385-6.
journal title abbreviation: Clin Endocrinol (Oxf)
publication date: 1999-10-01T00:00:00
year: 1999
type: Academic Article
type: Article
type: Document
type: Information Resource

Differential regulation of gonadotropin secretion by testosterone in the human male: absence of a negative feedback effect of testosterone on follicle-stimulating hormone secretion.
PubMed Identifier: 11231978
author list: Hayes FJ, DeCruz S, Seminara SB, Boepple PA, Crowley WF
published in: The Journal of clinical endocrinology and metabolism
information resource reference: Differential regulation of gonadotropin secretion by testosterone in the human male: absence of a negative feedback effect of testosterone on follicle-stimulating hormone secretion. J Clin Endocrinol Metab. 2001 Jan; 86(1):53-8.
journal title abbreviation: J Clin Endocrinol Metab
publication date: 2001-01-01T00:00:00
year: 2001
type: Academic Article
type: Article
type: Document
type: Information Resource

Neuroendocrine, gonadal, placental, and obstetric phenotypes in patients with IHH and mutations in the G-protein coupled receptor, GPR54.
PubMed Identifier: 16757106
author list: Pallais JC, Bo-Abbas Y, Pitteloud N, Crowley WF, Seminara SB
published in: Molecular and cellular endocrinology
information resource reference: Neuroendocrine, gonadal, placental, and obstetric phenotypes in patients with IHH and mutations in the G-protein coupled receptor, GPR54. Mol Cell Endocrinol. 2006 Jul 25; 254-255:70-7.
journal title abbreviation: Mol Cell Endocrinol
publication date: 2006-06-06T00:00:00
year: 2006
type: Academic Article
type: Article
type: Document
type: Information Resource

Mutations in fibroblast growth factor receptor 1 cause Kallmann syndrome with a wide spectrum of reproductive phenotypes.
PubMed Identifier: 16764984
author list: Pitteloud N, Meysing A, Quinton R, Acierno JS, Dwyer AA, Plummer L, Fliers E, Boepple P, Hayes F, Seminara S, Hughes VA, Ma J, Bouloux P, Mohammadi M, Crowley WF
published in: Molecular and cellular endocrinology
information resource reference: Mutations in fibroblast growth factor receptor 1 cause Kallmann syndrome with a wide spectrum of reproductive phenotypes. Mol Cell Endocrinol. 2006 Jul 25; 254-255:60-9.
journal title abbreviation: Mol Cell Endocrinol
publication date: 2006-06-09T00:00:00
year: 2006
type: Academic Article
type: Article
type: Document
type: Information Resource

When genetic load does not correlate with phenotypic spectrum: lessons from the GnRH receptor (GNRHR).
PubMed Identifier: 22745237
author list: Gianetti E, Hall JE, Au MG, Kaiser UB, Quinton R, Stewart JA, Metzger DL, Pitteloud N, Mericq V, Merino PM, Levitsky LL, Izatt L, Lang-Muritano M, Fujimoto VY, Dluhy RG, Chase ML, Crowley WF, Plummer L, Seminara SB
published in: The Journal of clinical endocrinology and metabolism
information resource reference: When genetic load does not correlate with phenotypic spectrum: lessons from the GnRH receptor (GNRHR). J Clin Endocrinol Metab. 2012 Sep; 97(9):E1798-807.
journal title abbreviation: J Clin Endocrinol Metab
publication date: 2012-06-28T00:00:00
year: 2012
type: Academic Article
type: Article
type: Document
type: Information Resource

Serum and urine somatomedin B in pediatrics.
PubMed Identifier: 6729353
author list: Seminara S, Galluzzi F, Salti R, Generoso M, Bini A, Brocchi A, Alessandrello AL
published in: La Ricerca in clinica e in laboratorio
information resource reference: Serum and urine somatomedin B in pediatrics. Ric Clin Lab. 1984 Jan-Mar; 14(1):41-6.
journal title abbreviation: Ric Clin Lab
publication date: 1984-01-01T00:00:00
year: 1984
type: Academic Article
type: Article
type: Document
type: Information Resource

Authorship 1034973
type: Authorship
author rank in publication: 8
linked author: Seminara, Stephanie
linked information resource: Different Cerebellar Ataxia Phenotypes Associated with Mutations of the PNPLA6 Gene in Brazilian Patients with Recessive Ataxias.

Different Cerebellar Ataxia Phenotypes Associated with Mutations of the PNPLA6 Gene in Brazilian Patients with Recessive Ataxias.
PubMed Identifier: 29248984
author list: Teive HAG, Camargo CHF, Sato MT, Shiokawa N, Boguszewski CL, Raskin S, Buck C, Seminara SB, Munhoz RP
published in: Cerebellum (London, England)
information resource reference: Different Cerebellar Ataxia Phenotypes Associated with Mutations of the PNPLA6 Gene in Brazilian Patients with Recessive Ataxias. Cerebellum. 2018 Jun; 17(3):380-385.
journal title abbreviation: Cerebellum
publication date: 2018-06-01T00:00:00
year: 2018
type: Academic Article
type: Article
type: Document
type: Information Resource

Interplay between dose and frequency of GnRH administration in determining pituitary gonadotropin responsiveness.
PubMed Identifier: 18063854
author list: Hughes VA, Boepple PA, Crowley WF, Seminara SB
published in: Neuroendocrinology
information resource reference: Interplay between dose and frequency of GnRH administration in determining pituitary gonadotropin responsiveness. Neuroendocrinology. 2008; 87(3):142-50.
journal title abbreviation: Neuroendocrinology
publication date: 2007-10-26T00:00:00
year: 2007
type: Academic Article
type: Article
type: Document
type: Information Resource

Reproductive functions of kisspeptin and Gpr54 across the life cycle of mice and men.
PubMed Identifier: 18644412
author list: Chan YM, Broder-Fingert S, Seminara SB
published in: Peptides
information resource reference: Reproductive functions of kisspeptin and Gpr54 across the life cycle of mice and men. Peptides. 2009 Jan; 30(1):42-8.
journal title abbreviation: Peptides
publication date: 2008-07-03T00:00:00
year: 2008
type: Academic Article
type: Article
type: Document
type: Information Resource

GnRH-deficient phenotypes in humans and mice with heterozygous variants in KISS1/Kiss1.
PubMed Identifier: 21880801
author list: Chan YM, Broder-Fingert S, Paraschos S, Lapatto R, Au M, Hughes V, Bianco SD, Min L, Plummer L, Cerrato F, De Guillebon A, Wu IH, Wahab F, Dwyer A, Kirsch S, Quinton R, Cheetham T, Ozata M, Ten S, Chanoine JP, Pitteloud N, Martin KA, Schiffmann R, Van der Kamp HJ, Nader S, Hall JE, Kaiser UB, Seminara SB
published in: The Journal of clinical endocrinology and metabolism
information resource reference: GnRH-deficient phenotypes in humans and mice with heterozygous variants in KISS1/Kiss1. J Clin Endocrinol Metab. 2011 Nov; 96(11):E1771-81.
journal title abbreviation: J Clin Endocrinol Metab
publication date: 2011-08-31T00:00:00
year: 2011
type: Academic Article
type: Article
type: Document
type: Information Resource

Acute administration of recombinant human growth hormone inhibits the somatotrope responsiveness to growth hormone-releasing hormone in childhood.
PubMed Identifier: 8921823
author list: Bellone J, Aimaretti G, Valetto MR, Bellone S, Baffoni C, Arvat E, Seminara S, Camanni F, Ghigo E
published in: European journal of endocrinology
information resource reference: Acute administration of recombinant human growth hormone inhibits the somatotrope responsiveness to growth hormone-releasing hormone in childhood. Eur J Endocrinol. 1996 Oct; 135(4):421-4.
journal title abbreviation: Eur J Endocrinol
publication date: 1996-10-01T00:00:00
year: 1996
type: Academic Article
type: Article
type: Document
type: Information Resource

Prevalence, phenotypic spectrum, and modes of inheritance of gonadotropin-releasing hormone receptor mutations in idiopathic hypogonadotropic hypogonadism.
PubMed Identifier: 11297587
author list: Beranova M, Oliveira LM, Bédécarrats GY, Schipani E, Vallejo M, Ammini AC, Quintos JB, Hall JE, Martin KA, Hayes FJ, Pitteloud N, Kaiser UB, Crowley WF, Seminara SB
published in: The Journal of clinical endocrinology and metabolism
information resource reference: Prevalence, phenotypic spectrum, and modes of inheritance of gonadotropin-releasing hormone receptor mutations in idiopathic hypogonadotropic hypogonadism. J Clin Endocrinol Metab. 2001 Apr; 86(4):1580-8.
journal title abbreviation: J Clin Endocrinol Metab
publication date: 2001-04-01T00:00:00
year: 2001
type: Academic Article
type: Article
type: Document
type: Information Resource

Genetic approaches to unraveling reproductive disorders: examples of bedside to bench research in the genomic era.
PubMed Identifier: 12050127
author list: Seminara SB, Crowley WF
published in: Endocrine reviews
information resource reference: Genetic approaches to unraveling reproductive disorders: examples of bedside to bench research in the genomic era. Endocr Rev. 2002 Jun; 23(3):382-92.
journal title abbreviation: Endocr Rev
publication date: 2002-06-01T00:00:00
year: 2002
type: Academic Article
type: Article
type: Document
type: Information Resource

Autosomal recessive idiopathic hypogonadotropic hypogonadism: genetic analysis excludes mutations in the gonadotropin-releasing hormone (GnRH) and GnRH receptor genes.
PubMed Identifier: 12788881
author list: Bo-Abbas Y, Acierno JS, Shagoury JK, Crowley WF, Seminara SB
published in: The Journal of clinical endocrinology and metabolism
information resource reference: Autosomal recessive idiopathic hypogonadotropic hypogonadism: genetic analysis excludes mutations in the gonadotropin-releasing hormone (GnRH) and GnRH receptor genes. J Clin Endocrinol Metab. 2003 Jun; 88(6):2730-7.
journal title abbreviation: J Clin Endocrinol Metab
publication date: 2003-06-01T00:00:00
year: 2003
type: Academic Article
type: Article
type: Document
type: Information Resource

Mechanisms of Disease: the first kiss-a crucial role for kisspeptin-1 and its receptor, G-protein-coupled receptor 54, in puberty and reproduction.
PubMed Identifier: 16932310
author list: Seminara SB
published in: Nature clinical practice. Endocrinology & metabolism
information resource reference: Mechanisms of Disease: the first kiss-a crucial role for kisspeptin-1 and its receptor, G-protein-coupled receptor 54, in puberty and reproduction. Nat Clin Pract Endocrinol Metab. 2006 Jun; 2(6):328-34.
journal title abbreviation: Nat Clin Pract Endocrinol Metab
publication date: 2006-06-01T00:00:00
year: 2006
type: Academic Article
type: Article
type: Document
type: Information Resource

X-linked adrenal hypoplasia congenita: a mutation in DAX1 expands the phenotypic spectrum in males and females.
PubMed Identifier: 10599709
author list: Seminara SB, Achermann JC, Genel M, Jameson JL, Crowley WF
published in: The Journal of clinical endocrinology and metabolism
information resource reference: X-linked adrenal hypoplasia congenita: a mutation in DAX1 expands the phenotypic spectrum in males and females. J Clin Endocrinol Metab. 1999 Dec; 84(12):4501-9.
journal title abbreviation: J Clin Endocrinol Metab
publication date: 1999-12-01T00:00:00
year: 1999
type: Academic Article
type: Article
type: Document
type: Information Resource

The GPR54 gene as a regulator of puberty.
PubMed Identifier: 14573733
author list: Seminara SB, Messager S, Chatzidaki EE, Thresher RR, Acierno JS, Shagoury JK, Bo-Abbas Y, Kuohung W, Schwinof KM, Hendrick AG, Zahn D, Dixon J, Kaiser UB, Slaugenhaupt SA, Gusella JF, O'Rahilly S, Carlton MB, Crowley WF, Aparicio SA, Colledge WH
published in: The New England journal of medicine
information resource reference: The GPR54 gene as a regulator of puberty. N Engl J Med. 2003 Oct 23; 349(17):1614-27.
journal title abbreviation: N Engl J Med
publication date: 2003-10-23T00:00:00
year: 2003
type: Academic Article
type: Article
type: Document
type: Information Resource