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William Francis Crowley Jr., M.D.

Co-Author

This page shows the publications co-authored by William Crowley and Stephanie Seminara.
Connection Strength

5.207
  1. Kisspeptin and GPR54: discovery of a novel pathway in reproduction. J Neuroendocrinol. 2008 Jun; 20(6):727-31.
    View in: PubMed
    Score: 0.371
  2. New genes controlling human reproduction and how you find them. Trans Am Clin Climatol Assoc. 2008; 119:29-37; discussion 37-8.
    View in: PubMed
    Score: 0.360
  3. Genetic approaches to unraveling reproductive disorders: examples of bedside to bench research in the genomic era. Endocr Rev. 2002 Jun; 23(3):382-92.
    View in: PubMed
    Score: 0.245
  4. The genetics of IHH--a paradox. Clin Endocrinol (Oxf). 2001 Aug; 55(2):159-60.
    View in: PubMed
    Score: 0.231
  5. 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.
    View in: PubMed
    Score: 0.228
  6. Genetics of hypogonadotropic hypogonadism. J Endocrinol Invest. 2000 Oct; 23(9):560-5.
    View in: PubMed
    Score: 0.218
  7. 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.
    View in: PubMed
    Score: 0.206
  8. Hypogonadotrophic hypogonadism: a unique biological opportunity. Clin Endocrinol (Oxf). 1999 Oct; 51(4):385-6.
    View in: PubMed
    Score: 0.203
  9. 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.
    View in: PubMed
    Score: 0.190
  10. 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.
    View in: PubMed
    Score: 0.165
  11. Prioritizing genetic testing in patients with Kallmann syndrome using clinical phenotypes. J Clin Endocrinol Metab. 2013 May; 98(5):E943-53.
    View in: PubMed
    Score: 0.129
  12. 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.
    View in: PubMed
    Score: 0.123
  13. Kisspeptin resets the hypothalamic GnRH clock in men. J Clin Endocrinol Metab. 2011 Jun; 96(6):E908-15.
    View in: PubMed
    Score: 0.113
  14. 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.
    View in: PubMed
    Score: 0.110
  15. Human GnRH deficiency: a unique disease model to unravel the ontogeny of GnRH neurons. Neuroendocrinology. 2010; 92(2):81-99.
    View in: PubMed
    Score: 0.107
  16. Deciphering genetic disease in the genomic era: the model of GnRH deficiency. Sci Transl Med. 2010 May 19; 2(32):32rv2.
    View in: PubMed
    Score: 0.106
  17. 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.
    View in: PubMed
    Score: 0.105
  18. GNRH1 mutations in patients with idiopathic hypogonadotropic hypogonadism. Proc Natl Acad Sci U S A. 2009 Jul 14; 106(28):11703-8.
    View in: PubMed
    Score: 0.100
  19. Interplay between dose and frequency of GnRH administration in determining pituitary gonadotropin responsiveness. Neuroendocrinology. 2008; 87(3):142-50.
    View in: PubMed
    Score: 0.089
  20. Digenic mutations account for variable phenotypes in idiopathic hypogonadotropic hypogonadism. J Clin Invest. 2007 Feb; 117(2):457-63.
    View in: PubMed
    Score: 0.084
  21. 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.
    View in: PubMed
    Score: 0.081
  22. 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.
    View in: PubMed
    Score: 0.081
  23. 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.
    View in: PubMed
    Score: 0.079
  24. The GPR54 gene as a regulator of puberty. N Engl J Med. 2003 Oct 23; 349(17):1614-27.
    View in: PubMed
    Score: 0.067
  25. 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.
    View in: PubMed
    Score: 0.066
  26. A locus for autosomal recessive idiopathic hypogonadotropic hypogonadism on chromosome 19p13.3. J Clin Endocrinol Metab. 2003 Jun; 88(6):2947-50.
    View in: PubMed
    Score: 0.066
  27. Prevalence and Phenotypic Effects of Copy Number Variants in Isolated Hypogonadotropic Hypogonadism. J Clin Endocrinol Metab. 2022 07 14; 107(8):2228-2242.
    View in: PubMed
    Score: 0.062
  28. Hypogonadotropic hypogonadism and cerebellar ataxia: detailed phenotypic characterization of a large, extended kindred. J Clin Endocrinol Metab. 2002 Apr; 87(4):1607-12.
    View in: PubMed
    Score: 0.060
  29. 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.
    View in: PubMed
    Score: 0.059
  30. 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.
    View in: PubMed
    Score: 0.056
  31. Phenotypic continuum between Waardenburg syndrome and idiopathic hypogonadotropic hypogonadism in humans with SOX10 variants. Genet Med. 2021 04; 23(4):629-636.
    View in: PubMed
    Score: 0.056
  32. 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.
    View in: PubMed
    Score: 0.055
  33. Aromatase inhibition in the human male reveals a hypothalamic site of estrogen feedback. J Clin Endocrinol Metab. 2000 Sep; 85(9):3027-35.
    View in: PubMed
    Score: 0.054
  34. 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).
    View in: PubMed
    Score: 0.053
  35. Insight Into the Ontogeny of GnRH Neurons From Patients Born Without a Nose. J Clin Endocrinol Metab. 2020 05 01; 105(5).
    View in: PubMed
    Score: 0.053
  36. DLG2 variants in patients with pubertal disorders. Genet Med. 2020 08; 22(8):1329-1337.
    View in: PubMed
    Score: 0.053
  37. 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.
    View in: PubMed
    Score: 0.052
  38. Functional Hypogonadotropic Hypogonadism in Men: Underlying Neuroendocrine Mechanisms and Natural History. J Clin Endocrinol Metab. 2019 08 01; 104(8):3403-3414.
    View in: PubMed
    Score: 0.050
  39. 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.
    View in: PubMed
    Score: 0.050
  40. Hypogonadotropic hypogonadism. Endocrinol Metab Clin North Am. 1998 Dec; 27(4):739-63, vii.
    View in: PubMed
    Score: 0.048
  41. 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.
    View in: PubMed
    Score: 0.043
  42. 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.
    View in: PubMed
    Score: 0.042
  43. The genetic and clinical heterogeneity of gonadotropin-releasing hormone deficiency in the human. J Clin Endocrinol Metab. 1996 Dec; 81(12):4388-95.
    View in: PubMed
    Score: 0.042
  44. 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.
    View in: PubMed
    Score: 0.041
  45. 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.
    View in: PubMed
    Score: 0.033
  46. 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.
    View in: PubMed
    Score: 0.032
  47. Olfactory phenotypic spectrum in idiopathic hypogonadotropic hypogonadism: pathophysiological and genetic implications. J Clin Endocrinol Metab. 2012 Jan; 97(1):E136-44.
    View in: PubMed
    Score: 0.029
  48. 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.
    View in: PubMed
    Score: 0.029
  49. A genetic basis for functional hypothalamic amenorrhea. N Engl J Med. 2011 Jan 20; 364(3):215-25.
    View in: PubMed
    Score: 0.028
  50. Expanding the phenotype and genotype of female GnRH deficiency. J Clin Endocrinol Metab. 2011 Mar; 96(3):E566-76.
    View in: PubMed
    Score: 0.028
  51. Oligogenic basis of isolated gonadotropin-releasing hormone deficiency. Proc Natl Acad Sci U S A. 2010 Aug 24; 107(34):15140-4.
    View in: PubMed
    Score: 0.027
  52. CHD7 mutations in patients initially diagnosed with Kallmann syndrome--the clinical overlap with CHARGE syndrome. Clin Genet. 2009 Jan; 75(1):65-71.
    View in: PubMed
    Score: 0.024
  53. 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.
    View in: PubMed
    Score: 0.023
  54. 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.
    View in: PubMed
    Score: 0.021
  55. 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.
    View in: PubMed
    Score: 0.018
  56. 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.
    View in: PubMed
    Score: 0.018
  57. A role for kisspeptins in the regulation of gonadotropin secretion in the mouse. Endocrinology. 2004 Sep; 145(9):4073-7.
    View in: PubMed
    Score: 0.018
  58. The importance of autosomal genes in Kallmann syndrome: genotype-phenotype correlations and neuroendocrine characteristics. J Clin Endocrinol Metab. 2001 Apr; 86(4):1532-8.
    View in: PubMed
    Score: 0.014
  59. Mutational analysis of DAX1 in patients with hypogonadotropic hypogonadism or pubertal delay. J Clin Endocrinol Metab. 1999 Dec; 84(12):4497-500.
    View in: PubMed
    Score: 0.013
Connection Strength
The connection strength for co-authors is the sum of the scores for each of their shared publications.

Publication scores are based on many factors, including how long ago they were written and whether the person is a first or senior author.
Funded by the NIH National Center for Advancing Translational Sciences through its Clinical and Translational Science Awards Program, grant number UL1TR002541.