Harvard Catalyst Profiles

Contact, publication, and social network information about Harvard faculty and fellows.

Yee-Ming Chan, M.D., Ph.D.


Yale University, New Haven, CTB.S.05/1993Biology
University of California, San Francisco, San Francisco, CAPh.D.12/2000Genetics
University of California, San Francisco, San Francisco, CAM.D.06/2002
University of California, San Francisco, San Francisco, CA06/2005Pediatrics (Internship and Residency)
Boston Children's Hospital, Boston, MA06/2008Pediatric Endocrinology (Clinical Fellowship)
Massachusetts General Hospital, Boston, MA06/2005Reproductive Endocrinology (Research Fellowship)
Robert P. Masland, Jr. Teaching Award
Elected Member, Society for Pediatric Research
Pediatric Endocrinology Fellowship Teaching Award
Top 10 Clinical Research Achievement Award

Available: 01/01/20, Expires: 12/31/25

Differences of sex development (also called intersex conditions) are conditions in which an underlying hormonal issue results in atypical development of the genitals. We are conducting a study to identify genetic causes of DSD as well as to assess the impact of receiving genetic testing results on families. Student role may include: analysis of genetic data, retrospective chart review focusing on a specific DSD condition, gaining experience in clinical research (e.g., assisting with recruitment, obtaining consent, and coordinating sample collection). The student will be expected to provide regular updates on progress and to attend a weekly group meeting (schedule permitting). Students of any level and any time availability are invited. Students should have familiarity with human genetics. For analysis of genetic data, programming skills will be helpful. The project PI typically meets with students weekly or biweekly and will also be available by email, and other members of the research team will also be available for assistance.

Available: 01/01/20, Expires: 12/31/25

The Boston Children's Hospital Gender Multidisciplinary Service (GeMS) provides multiple services to transgender and nonbinary youth, including hormonal treatments. Treatment with puberty blockers (GnRH analogs) can be used to halt the development of secondary sex characteristics that may be discordant with a patient's identified gender, and treatment with gender-affirming hormones (estradiol, testosterone) can be used to induce secondary sex characteristics concordant with identified gender. Boston Children's Hospital is part of a 4-site consortium (with Children's Hospital Los Angeles, University of California San Francisco, and Lurie Children's Hospital in Chicago) conducting a longitudinal, observational study of physiological and psychosocial outcomes of these treatments.

Available: 01/03/17, Expires: 12/30/25

What causes puberty to start? Why does it happen at different ages for different children? We are addressing these questions by studying children with delayed puberty using several approaches: --Analysis of clinical data (captured in a research database) to define the clinical characteristics of children with delayed puberty and to identify potential phenotypic subgroups. --In-person research visits with adults who had delayed puberty to study the long-term consequences of delayed puberty. --Human genetic studies to identify both common and rare genetic variants that contribute to delayed puberty, with the broader goal of understanding how pubertal timing is determined in general. The time commitment is flexible.

The research activities and funding listed below are automatically derived from NIH ExPORTER and other sources, which might result in incorrect or missing items. Faculty can login to make corrections and additions.
  1. R01HD090071 (CHAN, YEE-MING) Apr 11, 2017 - Mar 31, 2022
    Delayed Puberty: Causes and Consequences, Genotypes and Phenotypes
    Role: Principal Investigator
  2. R01HD089521 (CHAN, YEE-MING) Sep 10, 2016 - May 31, 2021
    Exome Sequencing in Disorders of Sex Development: Impact on Patients and Families
    Role: Co-Principal Investigator
  3. R01HD082554 (OLSON-KENNEDY, JOHANNA L) Aug 1, 2015 - Jun 30, 2020
    The Impact of Early Medical Treatment in Transgender Youth
    Role: Co-Principal Investigator
  4. R01HD074579 (MULLINS, LARRY L.) Jul 5, 2013 - Feb 28, 2023
    Long-Term Outcomes of Interventions for Reproductive Dysfunction
    Role: Co-Investigator

Publications listed below are automatically derived from MEDLINE/PubMed and other sources, which might result in incorrect or missing publications. Faculty can login to make corrections and additions.
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PMC Citations indicate the number of times the publication was cited by articles in PubMed Central, and the Altmetric score represents citations in news articles and social media. (Note that publications are often cited in additional ways that are not shown here.) Fields are based on how the National Library of Medicine (NLM) classifies the publication's journal and might not represent the specific topic of the publication. Translation tags are based on the publication type and the MeSH terms NLM assigns to the publication. Some publications (especially newer ones and publications not in PubMed) might not yet be assigned Field or Translation tags.) Click a Field or Translation tag to filter the publications.
  1. Chen D, Berona J, Chan YM, Ehrensaft D, Garofalo R, Hidalgo MA, Rosenthal SM, Tishelman AC, Olson-Kennedy J. Psychosocial Functioning in Transgender Youth after 2 Years of Hormones. N Engl J Med. 2023 01 19; 388(3):240-250. PMID: 36652355.
    Citations: 1     Fields:    Translation:Humans
  2. Zhu J, Liu E, Feld A, Jonsdottir-Lewis E, Shirey A, Feldman HA, Astley CM, Chan YM. Approaches to Identify Factors Associated with Pubertal Timing in Self-Limited Delayed Puberty. Horm Res Paediatr. 2022 Aug 25. PMID: 36007499; PMCID: PMC9958281.
    Citations:    Fields:    
  3. Kremen J, Harris RM, Aston CE, Perez M, Austin PF, Baskin L, Cheng EY, Fried A, Kolon T, Kropp B, Lakshmanan Y, Nokoff NJ, Palmer B, Paradis A, Poppas D, Reyes KJS, Wolfe-Christensen C, Diamond DA, Tishelman AC, Mullins LL, Wisniewski AB, Chan YM. Exploring Factors Associated with Decisions about Feminizing Genitoplasty in Differences of Sex Development. J Pediatr Adolesc Gynecol. 2022 Dec; 35(6):638-646. PMID: 35948206; PMCID: PMC9701156.
    Citations:    Fields:    Translation:Humans
  4. Traino KA, Roberts CM, Fisher RS, Delozier AM, Austin PF, Baskin LS, Chan YM, Cheng EY, Diamond DA, Fried AJ, Kropp B, Lakshmanan Y, Meyer SZ, Meyer T, Buchanan C, Palmer BW, Paradis A, Reyes KJ, Tishelman A, Williot P, Wolfe-Christensen C, Yerkes EB, Mullins LL, Wisniewski AB. Stigma, Intrusiveness, and Distress in Parents of Children with a Disorder/Difference of Sex Development. J Dev Behav Pediatr. 2022 09 01; 43(7):e473-e482. PMID: 35353771; PMCID: PMC9474682.
    Citations:    Fields:    
  5. Zhu J, Pujol-Gualdo N, Wittemans LBL, Lindgren CM, Laisk T, Hirschhorn JN, Chan YM. Evidence From Men for Ovary-independent Effects of Genetic Risk Factors for Polycystic Ovary Syndrome. J Clin Endocrinol Metab. 2022 03 24; 107(4):e1577-e1587. PMID: 34969092; PMCID: PMC8947237.
    Citations: 2     Fields:    Translation:Humans
  6. Flewelling KD, De Jesus Ayala S, Chan YM, Chen D, Daswani S, Hansen-Moore J, Rama Jayanthi V, Kapa HM, Nahata L, Papadakis JL, Pratt K, Rausch JR, Umbaugh H, Vemulakonda V, Crerand CE, Tishelman AC, Buchanan CL. Surgical experiences in adolescents and young adults with differences of sex development: A qualitative examination. J Pediatr Urol. 2022 06; 18(3):353.e1-353.e10. PMID: 35341672; PMCID: PMC9232896.
    Citations: 1     Fields:    Translation:Humans
  7. Millington K, Barrera E, Daga A, Mann N, Olson-Kennedy J, Garofalo R, Rosenthal SM, Chan YM. The effect of gender-affirming hormone treatment on serum creatinine in transgender and gender-diverse youth: implications for estimating GFR. Pediatr Nephrol. 2022 09; 37(9):2141-2150. PMID: 35083530; PMCID: PMC9629364.
    Citations:    Fields:    Translation:Humans
  8. Fisher RS, Espeleta HC, Baskin LS, Buchanan CL, Chan YM, Cheng EY, Coplen DE, Diamond DA, Nokoff NJ, Palmer BW, Poppas DP, Scott Reyes KJ, Tishelman A, Wolfe-Christensen C, Mullins LL, Wisniewski AB. Decisional regret about surgical and non-surgical issues after genitoplasty among caregivers of female infants with CAH. J Pediatr Urol. 2022 02; 18(1):27-33. PMID: 34742644; PMCID: PMC8983419.
    Citations:    Fields:    Translation:Humans
  9. Millington K, Chan YM. Lipoprotein subtypes after testosterone therapy in transmasculine adolescents. J Clin Lipidol. 2021 Nov-Dec; 15(6):840-844. PMID: 34657833; PMCID: PMC8742606.
    Citations:    Fields:    Translation:Humans
  10. Jonsdottir-Lewis E, Feld A, Ciarlo R, Denhoff E, Feldman HA, Chan YM. Timing of Pubertal Onset in Girls and Boys With Constitutional Delay. J Clin Endocrinol Metab. 2021 08 18; 106(9):e3693-e3703. PMID: 33890108; PMCID: PMC8372671.
    Citations: 2     Fields:    Translation:Humans
  11. Chen D, Lash B, Kim E, Hidalgo MA, Muldoon AL, Liu E, Jensen J, Grabert R, Chan YM, Garofalo R, Tishelman A. A Comparison of Demographic and Psychosocial Characteristics Between Transgender Youth Enrolling Versus Not Enrolling in a Multisite Study. Transgend Health. 2021 Aug; 6(4):229-234. PMID: 34414280.
  12. Schulmeister C, Millington K, Kaufman M, Finlayson C, Kennedy JO, Garofalo R, Chan YM, Rosenthal SM. Growth in Transgender/Gender-Diverse Youth in the First Year of Treatment With Gonadotropin-Releasing Hormone Agonists. J Adolesc Health. 2022 01; 70(1):108-113. PMID: 34315674; PMCID: PMC9673472.
    Citations:    Fields:    Translation:Humans
  13. Perez MN, Clawson AH, Baudino MN, Austin PF, Baskin LS, Chan YM, Cheng EY, Coplen D, Diamond DA, Fried AJ, Kolon T, Kropp B, Lakshmanan Y, Meyer T, Nokoff NJ, Palmer BW, Paradis A, Poppas DP, Reyes KJS, Williot P, Wolfe-Christensen C, Yerkes EB, Wisniewski AB, Mullins LL. Distress Trajectories for Parents of Children With DSD: A Growth Mixture Model. J Pediatr Psychol. 2021 06 03; 46(5):588-598. PMID: 33594414.
    Citations: 2     Fields:    Translation:Humans
  14. Millington K, Finlayson C, Olson-Kennedy J, Garofalo R, Rosenthal SM, Chan YM. Association of High-Density Lipoprotein Cholesterol With Sex Steroid Treatment in Transgender and Gender-Diverse Youth. JAMA Pediatr. 2021 05 01; 175(5):520-521. PMID: 33587098; PMCID: PMC7885095.
    Citations: 2     Fields:    Translation:Humans
  15. Olson-Kennedy J, Streeter LH, Garofalo R, Chan YM, Rosenthal SM. Histrelin Implants for Suppression of Puberty in Youth with Gender Dysphoria: A Comparison of 50 mcg/Day (Vantas) and 65 mcg/Day (SupprelinLA). Transgend Health. 2021 Feb; 6(1):36-42. PMID: 33644320.
    Citations: 3     
  16. Zhang YJ, Jimenez L, Azova S, Kremen J, Chan YM, Elhusseiny AM, Saeed H, Goldsmith J, Al-Ibraheemi A, O'Connell AE, Kovbasnjuk O, Rodan L, Agrawal PB, Thiagarajah JR. Novel variants in the stem cell niche factor WNT2B define the disease phenotype as a congenital enteropathy with ocular dysgenesis. Eur J Hum Genet. 2021 06; 29(6):998-1007. PMID: 33526876; PMCID: PMC8187348.
    Citations: 2     Fields:    Translation:Humans
  17. Hansen-Moore JA, Kapa HM, Litteral JL, Nahata L, Indyk JA, Jayanthi VR, Chan YM, Tishelman AC, Crerand CE. Psychosocial Functioning Among Children With and Without Differences of Sex Development. J Pediatr Psychol. 2021 01 20; 46(1):69-79. PMID: 33313877; PMCID: PMC9633715.
    Citations: 2     Fields:    Translation:Humans
  18. Papadakis JL, Poquiz JL, Buchanan CL, Chan YM, Crerand CE, Hansen-Moore J, Kapa HM, Nahata L, Pratt KJ, Tishelman AC, Chen D. Fertility Discussions: Perspectives of Adolescents and Young Adults With Differences of Sex Development. Clin Pract Pediatr Psychol. 2021 Dec; 9(4):372-383. PMID: 35310824.
    Citations: 1     
  19. Okawa ER, Gardner R, Feltmate C, Hirsch MS, Craig JW, Chan YM. An Unusual Cause of Secondary Amenorrhea in an Adolescent: Expanding the Differential. J Endocr Soc. 2020 Dec 01; 4(12):bvaa159. PMID: 33241170.
    Citations: 1     
  20. Roberts CM, Sharkey CM, Bakula DM, Perez MN, Delozier AJ, Austin PF, Baskin LS, Chan YM, Cheng EY, Diamond DA, Fried AJ, Kropp B, Lakshmanan Y, Meyer SZ, Meyer T, Nokoff NJ, Palmer BW, Paradis A, Reyes KJS, Tishelman A, Williot P, Wolfe-Christensen C, Yerkes EB, Aston C, Wisniewski AB, Mullins LL. Illness Uncertainty Longitudinally Predicts Distress Among Caregivers of Children Born With DSD. J Pediatr Psychol. 2020 10 01; 45(9):1053-1062. PMID: 32929478; PMCID: PMC7522298.
    Citations: 3     Fields:    Translation:Humans
  21. Chen D, Abrams M, Clark L, Ehrensaft D, Tishelman AC, Chan YM, Garofalo R, Olson-Kennedy J, Rosenthal SM, Hidalgo MA. Psychosocial Characteristics of Transgender Youth Seeking Gender-Affirming Medical Treatment: Baseline Findings From the Trans Youth Care Study. J Adolesc Health. 2021 06; 68(6):1104-1111. PMID: 32839079; PMCID: PMC7897328.
    Citations: 4     Fields:    Translation:Humans
  22. Davis EE, Balasubramanian R, Kupchinsky ZA, Keefe DL, Plummer L, Khan K, Meczekalski B, Heath KE, Lopez-Gonzalez V, Ballesta-Martinez MJ, Margabanthu G, Price S, Greening J, Brauner R, Valenzuela I, Cusco I, Fernandez-Alvarez P, Wierman ME, Li T, Lage K, Barroso PS, Chan YM, Crowley WF, Katsanis N. TCF12 haploinsufficiency causes autosomal dominant Kallmann syndrome and reveals network-level interactions between causal loci. Hum Mol Genet. 2020 08 11; 29(14):2435-2450. PMID: 32620954.
    Citations: 1     Fields:    Translation:HumansAnimalsCells
  23. Chan YM, Lippincott MF, Sales Barroso P, Alleyn C, Brodsky J, Granados H, Roberts SA, Sandler C, Srivatsa A, Seminara SB. Using Kisspeptin to Predict Pubertal Outcomes for Youth With Pubertal Delay. J Clin Endocrinol Metab. 2020 08 01; 105(8). PMID: 32232399; PMCID: PMC7282711.
    Citations: 7     Fields:    Translation:HumansCTClinical Trials
  24. Lee JY, Finlayson C, Olson-Kennedy J, Garofalo R, Chan YM, Glidden DV, Rosenthal SM. Low Bone Mineral Density in Early Pubertal Transgender/Gender Diverse Youth: Findings From the Trans Youth Care Study. J Endocr Soc. 2020 Sep 01; 4(9):bvaa065. PMID: 32832823; PMCID: PMC7433770.
    Citations: 6     
  25. Baskin A, Wisniewski AB, Aston CE, Austin P, Chan YM, Cheng EY, Diamond DA, Fried A, Kolon T, Lakshmanan Y, Williot P, Meyer S, Meyer T, Kropp B, Nokoff N, Palmer B, Paradis A, Poppas D, VanderBrink B, Scott Reyes KJ, Tishelman A, Wolfe-Christensen C, Yerkes E, Mullins LL, Baskin L. Post-operative complications following feminizing genitoplasty in moderate to severe genital atypia: Results from a multicenter, observational prospective cohort study. J Pediatr Urol. 2020 Oct; 16(5):568-575. PMID: 32624410; PMCID: PMC7735165.
    Citations: 3     Fields:    Translation:Humans
  26. Millington K, Schulmeister C, Finlayson C, Grabert R, Olson-Kennedy J, Garofalo R, Rosenthal SM, Chan YM. Physiological and Metabolic Characteristics of a Cohort of Transgender and Gender-Diverse Youth in the United States. J Adolesc Health. 2020 09; 67(3):376-383. PMID: 32417098.
    Citations: 4     Fields:    Translation:Humans
  27. Zhu J, Feldman HA, Eugster EA, Fechner PY, Nahata L, Thornton PS, Chan YM. PRACTICE VARIATION IN THE MANAGEMENT OF GIRLS AND BOYS WITH DELAYED PUBERTY. Endocr Pract. 2020 Mar; 26(3):267-284. PMID: 31859552.
    Citations: 1     Fields:    Translation:Humans
  28. Olson-Kennedy J, Chan YM, Rosenthal S, Hidalgo MA, Chen D, Clark L, Ehrensaft D, Tishelman A, Garofalo R. Creating the Trans Youth Research Network: A Collaborative Research Endeavor. Transgend Health. 2019; 4(1):304-312. PMID: 31701011; PMCID: PMC6830532.
    Citations: 3     
  29. Perez MN, Delozier AM, Aston CE, Austin P, Baskin L, Chan YM, Cheng EY, Diamond DA, Fried A, Greenfield S, Kolon T, Kropp B, Lakshmanan Y, Meyer S, Meyer T, Nokoff N, Palmer B, Paradis A, Poppas D, Scott Reyes KJ, Swartz JM, Tishelman A, Wisniewski AB, Wolfe-Christensen C, Yerkes E, Mullins LL. Predictors of Psychosocial Distress in Parents of Young Children with Disorders of Sex Development. J Urol. 2019 11; 202(5):1046-1051. PMID: 31268850; PMCID: PMC6946548.
    Citations: 4     Fields:    Translation:Humans
  30. Chan YM, Feld A, Jonsdottir-Lewis E. Effects of the Timing of Sex-Steroid Exposure in Adolescence on Adult Health Outcomes. J Clin Endocrinol Metab. 2019 10 01; 104(10):4578-4586. PMID: 31194243; PMCID: PMC6736212.
    Citations: 8     Fields:    Translation:Humans
  31. 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. Hypothalamic Reproductive Endocrine Pulse Generator Activity Independent of Neurokinin B and Dynorphin Signaling. J Clin Endocrinol Metab. 2019 10 01; 104(10):4304-4318. PMID: 31132118; PMCID: PMC6736049.
    Citations: 12     Fields:    Translation:HumansAnimalsCells
  32. Crerand CE, Kapa HM, Litteral JL, Nahata L, Combs B, Indyk JA, Jayanthi VR, Chan YM, Tishelman AC, Hansen-Moore J. Response to commentary on 'Parent perceptions of psychosocial care for children with differences of sex development'. J Pediatr Urol. 2019 10; 15(5):524-525. PMID: 31543250.
    Citations:    Fields:    Translation:Humans
  33. Olson-Kennedy J, Chan YM, Garofalo R, Spack N, Chen D, Clark L, Ehrensaft D, Hidalgo M, Tishelman A, Rosenthal S. Impact of Early Medical Treatment for Transgender Youth: Protocol for the Longitudinal, Observational Trans Youth Care Study. JMIR Res Protoc. 2019 Jul 09; 8(7):e14434. PMID: 31290407; PMCID: PMC6647755.
    Citations: 13     
  34. Crerand CE, Kapa HM, Litteral JL, Nahata L, Combs B, Indyk JA, Jayanthi VR, Chan YM, Tishelman AC, Hansen-Moore J. Parent perceptions of psychosocial care for children with differences of sex development. J Pediatr Urol. 2019 Oct; 15(5):522.e1-522.e8. PMID: 31353277.
    Citations: 3     Fields:    Translation:Humans
  35. 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. Paediatric and adult-onset male hypogonadism. Nat Rev Dis Primers. 2019 May 30; 5(1):38. PMID: 31147553.
    Citations: 41     Fields:    Translation:Humans
  36. Delozier AM, Gamwell KL, Sharkey C, Bakula DM, Perez MN, Wolfe-Christensen C, Austin P, Baskin L, Bernabé KJ, Chan YM, Cheng EY, Diamond DA, Ellens REH, Fried A, Galan D, Greenfield S, Kolon T, Kropp B, Lakshmanan Y, Meyer S, Meyer T, Nokoff NJ, Reyes KJ, Palmer B, Poppas DP, Paradis A, Tishelman AC, Yerkes EB, Chaney JM, Wisniewski AB, Mullins LL. Uncertainty and Posttraumatic Stress: Differences Between Mothers and Fathers of Infants with Disorders of Sex Development. Arch Sex Behav. 2019 07; 48(5):1617-1624. PMID: 31144217.
    Citations: 5     Fields:    Translation:Humans
  37. Heksch RA, Matheson MA, Tishelman AC, Swartz JM, Jayanthi VR, Diamond DA, Harrison CJ, Chan YM, Nahata L. TESTICULAR REGRESSION SYNDROME: PRACTICE VARIATION IN DIAGNOSIS AND MANAGEMENT. Endocr Pract. 2019 Aug; 25(8):779-786. PMID: 31013155.
    Citations: 1     Fields:    Translation:Humans
  38. Millington K, Liu E, Chan YM. The Utility of Potassium Monitoring in Gender-Diverse Adolescents Taking Spironolactone. J Endocr Soc. 2019 May 01; 3(5):1031-1038. PMID: 31065620; PMCID: PMC6497918.
    Citations: 3     
  39. Kremen J, Chan YM. Genetic evaluation of disorders of sex development: current practice and novel gene discovery. Curr Opin Endocrinol Diabetes Obes. 2019 02; 26(1):54-59. PMID: 30507699.
    Citations: 1     Fields:    Translation:HumansAnimals
  40. Harris RM, Chan YM. Ethical issues with early genitoplasty in children with disorders of sex development. Curr Opin Endocrinol Diabetes Obes. 2019 02; 26(1):49-53. PMID: 30507698.
    Citations: 2     Fields:    Translation:Humans
  41. Sharkey CM, Bakula DM, Wolfe-Christensen C, Austin P, Baskin L, Bernabé KJ, Chan YM, Cheng EY, Delozier AM, Diamond DA, Ellens REH, Fried A, Galan D, Greenfield S, Kolon T, Kropp B, Lakshmanan Y, Meyer S, Meyer T, Nokoff NJ, Scott Reyes KJ, Palmer B, Poppas DP, Paradis A, Tishelman A, Yerkes EB, Chaney JM, Wisniewski AB, Mullins LL. Parent-Rated Severity of Illness and Anxiety among Caregivers of Children Born with a Disorder of Sex Development Including Ambiguous Genitalia. Horm Res Paediatr. 2018; 90(5):308-313. PMID: 30566934; PMCID: PMC6421083.
    Citations: 5     Fields:    Translation:Humans
  42. Finlayson C, Rosoklija I, Aston CE, Austin P, Bakula D, Baskin L, Chan YM, Delozier AM, Diamond DA, Fried A, Greenfield S, Kolon T, Kropp B, Lakshmanan Y, Meyer S, Meyer T, Nokoff N, Mullins LL, Palmer B, Perez MN, Poppas DP, Reddy P, Reyes KJS, Schulte M, Sharkey CM, Yerkes E, Wolfe-Christensen C, Wisniewski AB, Cheng EY. Baseline Characteristics of Infants With Atypical Genital Development: Phenotypes, Diagnoses, and Sex of Rearing. J Endocr Soc. 2019 Jan 01; 3(1):264-272. PMID: 30623164; PMCID: PMC6320240.
    Citations: 5     
  43. Guo MH, Plummer L, Chan YM, Hirschhorn JN, Lippincott MF. Burden Testing of Rare Variants Identified through Exome Sequencing via Publicly Available Control Data. Am J Hum Genet. 2018 10 04; 103(4):522-534. PMID: 30269813; PMCID: PMC6174288.
    Citations: 49     Fields:    Translation:HumansAnimals
  44. Lippincott MF, Nguyen K, Delaney A, Chan YM, Seminara SB. Assessing Sex Steroid Influence on Kisspeptin Responsiveness in Idiopathic Hypogonadotropic Hypogonadism. J Endocr Soc. 2018 Nov 01; 2(11):1293-1305. PMID: 30430143; PMCID: PMC6223246.
    Citations: 1     
  45. Zhu J, Kusa TO, Chan YM. Genetics of pubertal timing. Curr Opin Pediatr. 2018 08; 30(4):532-540. PMID: 29771761; PMCID: PMC6082372.
    Citations: 6     Fields:    Translation:Humans
  46. Diamond DA, Swartz J, Tishelman A, Johnson J, Chan YM. Management of pediatric patients with DSD and ambiguous genitalia: Balancing the child's moral claims to self-determination with parental values and preferences. J Pediatr Urol. 2018 10; 14(5):416.e1-416.e5. PMID: 29903608.
    Citations: 4     Fields:    Translation:Humans
  47. Chan YM, Lippincott MF, Kusa TO, Seminara SB. Divergent responses to kisspeptin in children with delayed puberty. JCI Insight. 2018 04 19; 3(8). PMID: 29669934; PMCID: PMC5931121.
    Citations: 5     Fields:    Translation:HumansCTClinical Trials
  48. Shahab M, Lippincott M, Chan YM, Davies A, Merino PM, Plummer L, Mericq V, Seminara S. 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. PMID: 29452377; PMCID: PMC6276658.
    Citations: 3     Fields:    Translation:HumansCells
  49. Polderman TJC, Kreukels BPC, Irwig MS, Beach L, Chan YM, Derks EM, Esteva I, Ehrenfeld J, Heijer MD, Posthuma D, Raynor L, Tishelman A, Davis LK. The Biological Contributions to Gender Identity and Gender Diversity: Bringing Data to the Table. Behav Genet. 2018 03; 48(2):95-108. PMID: 29460079.
    Citations: 24     Fields:    Translation:Humans
  50. Chan YM, Balza R, High FA. Case 3-2018: A 5-Month-Old Boy with Hypoglycemia. N Engl J Med. 2018 Jan 25; 378(4):381-389. PMID: 29365308.
    Citations:    Fields:    Translation:Humans
  51. Lippincott MF, Chan YM, Rivera Morales D, Seminara SB. Continuous Kisspeptin Administration in Postmenopausal Women: Impact of Estradiol on Luteinizing Hormone Secretion. J Clin Endocrinol Metab. 2017 06 01; 102(6):2091-2099. PMID: 28368443; PMCID: PMC5470760.
    Citations: 2     Fields:    Translation:Humans
  52. Zhu J, Chan YM. Adult Consequences of Self-Limited Delayed Puberty. Pediatrics. 2017 Jun; 139(6). PMID: 28562264; PMCID: PMC8579478.
    Citations: 33     Fields:    Translation:Humans
  53. Kremen J, Chan YM, Swartz JM. Recent findings on the genetics of disorders of sex development. Curr Opin Urol. 2017 01; 27(1):1-6. PMID: 27798415; PMCID: PMC5877806.
    Citations: 1     Fields:    Translation:Humans
  54. Swartz JM, Ciarlo R, Guo MH, Abrha A, Weaver B, Diamond DA, Chan YM, Hirschhorn JN. A 46,XX Ovotesticular Disorder of Sex Development Likely Caused by a Steroidogenic Factor-1 (NR5A1) Variant. Horm Res Paediatr. 2017; 87(3):191-195. PMID: 27855412.
    Citations: 9     Fields:    Translation:HumansCells
  55. Nokoff NJ, Palmer B, Mullins AJ, Aston CE, Austin P, Baskin L, Bernabé K, Chan YM, Cheng EY, Diamond DA, Fried A, Frimberger D, Galan D, Gonzalez L, Greenfield S, Kolon T, Kropp B, Lakshmanan Y, Meyer S, Meyer T, Mullins LL, Paradis A, Poppas D, Reddy P, Schulte M, Reyes KJ, Swartz JM, Wolfe-Christensen C, Yerkes E, Wisniewski AB. Prospective assessment of cosmesis before and after genital surgery. J Pediatr Urol. 2017 Feb; 13(1):28.e1-28.e6. PMID: 27887913; PMCID: PMC5894813.
    Citations: 4     Fields:    Translation:Humans
  56. Swartz JM, Ciarlo R, Guo MH, Abrha A, Diamond DA, Chan YM, Hirschhorn JN. Two Unrelated Undervirilized 46,XY Males with Inherited NR5A1 Variants Identified by Whole-Exome Sequencing. Horm Res Paediatr. 2017; 87(4):264-270. PMID: 27553487.
    Citations: 6     Fields:    Translation:HumansCells
  57. Guo MH, Dauber A, Lippincott MF, Chan YM, Salem RM, Hirschhorn JN. Determinants of Power in Gene-Based Burden Testing for Monogenic Disorders. Am J Hum Genet. 2016 09 01; 99(3):527-539. PMID: 27545677; PMCID: PMC5011058.
    Citations: 16     Fields:    Translation:Humans
  58. Richards MR, Plummer L, Chan YM, Lippincott MF, Quinton R, Kumanov P, Seminara SB. Phenotypic spectrum of POLR3B mutations: isolated hypogonadotropic hypogonadism without neurological or dental anomalies. J Med Genet. 2017 01; 54(1):19-25. PMID: 27512013; PMCID: PMC5189673.
    Citations: 20     Fields:    Translation:HumansCells
  59. Lippincott MF, Chan YM, Delaney A, Rivera-Morales D, Butler JP, Seminara SB. Kisspeptin Responsiveness Signals Emergence of Reproductive Endocrine Activity: Implications for Human Puberty. J Clin Endocrinol Metab. 2016 08; 101(8):3061-9. PMID: 27214398; PMCID: PMC4971332.
    Citations: 12     Fields:    Translation:HumansCellsCTClinical Trials
  60. Fullerton BS, Sparks EA, Hall AM, Chan YM, Duggan C, Lund DP, Modi BP, Jaksic T, Hendren WH. Growth morbidity in patients with cloacal exstrophy: a 42-year experience. J Pediatr Surg. 2016 Jun; 51(6):1017-21. PMID: 27114306; PMCID: PMC4921257.
    Citations: 2     Fields:    Translation:Humans
  61. Zhu J, Chan YM. Fertility Issues for Patients with Hypogonadotropic Causes of Delayed Puberty. Endocrinol Metab Clin North Am. 2015 Dec; 44(4):821-34. PMID: 26568495.
    Citations: 1     Fields:    Translation:Humans
  62. Zhu J, Choa RE, Guo MH, Plummer L, Buck C, Palmert MR, Hirschhorn JN, Seminara SB, Chan YM. A shared genetic basis for self-limited delayed puberty and idiopathic hypogonadotropic hypogonadism. J Clin Endocrinol Metab. 2015 Apr; 100(4):E646-54. PMID: 25636053; PMCID: PMC4399304.
    Citations: 35     Fields:    Translation:Humans
  63. True C, Nasrin Alam S, Cox K, Chan YM, Seminara SB. 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. PMID: 25574869; PMCID: PMC4399316.
    Citations: 25     Fields:    Translation:AnimalsCells
  64. Chan YM, Lippincott MF, Butler JP, Sidhoum VF, Li CX, Plummer L, Seminara SB. 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. PMID: 25226293; PMCID: PMC4255107.
    Citations: 15     Fields:    Translation:HumansCells
  65. 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. 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. PMID: 24877624; PMCID: PMC4098000.
    Citations: 26     Fields:    Translation:Animals
  66. 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. Redundancy in Kiss1 expression safeguards reproduction in the mouse. Endocrinology. 2013 Aug; 154(8):2784-94. PMID: 23736293; PMCID: PMC3713212.
    Citations: 19     Fields:    Translation:AnimalsCells
  67. 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. Ataxia, dementia, and hypogonadotropism caused by disordered ubiquitination. N Engl J Med. 2013 May 23; 368(21):1992-2003. PMID: 23656588; PMCID: PMC3738065.
    Citations: 95     Fields:    Translation:HumansAnimalsCells
  68. Liu Z, Ren C, Jones W, Chen P, Seminara SB, Chan YM, Smith NF, Covey JM, Wang J, Chan KK. 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. PMID: 23524040.
    Citations: 6     Fields:    Translation:AnimalsCells
  69. 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. Reversal and relapse of hypogonadotropic hypogonadism: resilience and fragility of the reproductive neuroendocrine system. J Clin Endocrinol Metab. 2014 Mar; 99(3):861-70. PMID: 24423288; PMCID: PMC3942233.
    Citations: 55     Fields:    Translation:Humans
  70. Chan YM. Effects of kisspeptin on hormone secretion in humans. Adv Exp Med Biol. 2013; 784:89-112. PMID: 23550003.
    Citations: 7     Fields:    Translation:HumansCells
  71. Chan YM, Butler JP, Sidhoum VF, Pinnell NE, Seminara SB. 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. PMID: 22577171; PMCID: PMC3410261.
    Citations: 27     Fields:    Translation:Humans
  72. Yang JJ, Caligioni CS, Chan YM, Seminara SB. Uncovering novel reproductive defects in neurokinin B receptor null mice: closing the gap between mice and men. Endocrinology. 2012 Mar; 153(3):1498-508. PMID: 22253416; PMCID: PMC3281542.
    Citations: 47     Fields:    Translation:HumansAnimalsCells
  73. Lewkowitz-Shpuntoff HM, Hughes VA, Plummer L, Au MG, Doty RL, Seminara SB, Chan YM, Pitteloud N, Crowley WF, Balasubramanian R. Olfactory phenotypic spectrum in idiopathic hypogonadotropic hypogonadism: pathophysiological and genetic implications. J Clin Endocrinol Metab. 2012 Jan; 97(1):E136-44. PMID: 22072740; PMCID: PMC3251934.
    Citations: 35     Fields:    Translation:Humans
  74. 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. GnRH-deficient phenotypes in humans and mice with heterozygous variants in KISS1/Kiss1. J Clin Endocrinol Metab. 2011 Nov; 96(11):E1771-81. PMID: 21880801; PMCID: PMC3205899.
    Citations: 27     Fields:    Translation:HumansAnimals
  75. Chan YM. A needle in a haystack: mutations in GNRH1 as a rare cause of isolated GnRH deficiency. Mol Cell Endocrinol. 2011 Oct 22; 346(1-2):51-6. PMID: 21722705.
    Citations: 3     Fields:    Translation:HumansAnimals
  76. Chan YM, Butler JP, Pinnell NE, Pralong FP, Crowley WF, Ren C, Chan KK, Seminara SB. Kisspeptin resets the hypothalamic GnRH clock in men. J Clin Endocrinol Metab. 2011 Jun; 96(6):E908-15. PMID: 21470997; PMCID: PMC3100758.
    Citations: 40     Fields:    Translation:Humans
  77. Wahab F, Ullah F, Chan YM, Seminara SB, Shahab M. 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. PMID: 21154197.
    Citations: 16     Fields:    Translation:AnimalsCells
  78. Chan YM, Fenoglio-Simeone KA, Paraschos S, Muhammad L, Troester MM, Ng YT, Johnsonbaugh RE, Coons SW, Prenger EC, Kerrigan JF, Seminara SB. 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. PMID: 20389100.
    Citations: 9     Fields:    Translation:Humans
  79. Chan YM, Broder-Fingert S, Wong KM, Seminara SB. Kisspeptin/Gpr54-independent gonadotrophin-releasing hormone activity in Kiss1 and Gpr54 mutant mice. J Neuroendocrinol. 2009 Dec; 21(12):1015-23. PMID: 19840236.
    Citations: 50     Fields:    Translation:Animals
  80. 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. GNRH1 mutations in patients with idiopathic hypogonadotropic hypogonadism. Proc Natl Acad Sci U S A. 2009 Jul 14; 106(28):11703-8. PMID: 19567835.
    Citations: 67     Fields:    Translation:HumansCells
  81. Chan YM, Broder-Fingert S, Seminara SB. Reproductive functions of kisspeptin and Gpr54 across the life cycle of mice and men. Peptides. 2009 Jan; 30(1):42-8. PMID: 18644412.
    Citations: 10     Fields:    Translation:HumansAnimals
  82. Chan YC, Burgunder JM, Wilder-Smith E, Chew SE, Lam-Mok-Sing KM, Sharma V, Ong BK. Electroencephalographic changes and seizures in familial hemiplegic migraine patients with the CACNA1A gene S218L mutation. J Clin Neurosci. 2008 Aug; 15(8):891-4. PMID: 18313928.
    Citations: 13     Fields:    Translation:Humans
  83. Chan YM, Laffel LM. Transition from insulin to glyburide in a 4-month-old girl with neonatal diabetes mellitus caused by a mutation in KCNJ11. Pediatr Diabetes. 2007 Aug; 8(4):235-8. PMID: 17659066.
    Citations: 8     Fields:    Translation:Humans
  84. Lapatto R, Pallais JC, Zhang D, Chan YM, Mahan A, Cerrato F, Le WW, Hoffman GE, Seminara SB. Kiss1-/- mice exhibit more variable hypogonadism than Gpr54-/- mice. Endocrinology. 2007 Oct; 148(10):4927-36. PMID: 17595229.
    Citations: 204     Fields:    Translation:AnimalsCells
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Funded by the NIH National Center for Advancing Translational Sciences through its Clinical and Translational Science Awards Program, grant number UL1TR002541.