PUBLICATIONS

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  1. Timing of Pubertal Onset in Girls and Boys With Constitutional Delay. J Clin Endocrinol Metab. 2021 Aug 18; 106(9):e3693-e3703. View abstract
  2. 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 Jun; 29(6):998-1007. View abstract
  3. Psychosocial Functioning Among Children With and Without Differences of Sex Development. J Pediatr Psychol. 2021 01 20; 46(1):69-79. View abstract
  4. An Unusual Cause of Secondary Amenorrhea in an Adolescent: Expanding the Differential. J Endocr Soc. 2020 Dec 01; 4(12):bvaa159. View abstract
  5. Illness Uncertainty Longitudinally Predicts Distress Among Caregivers of Children Born With DSD. J Pediatr Psychol. 2020 10 01; 45(9):1053-1062. View abstract
  6. 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. View abstract
  7. 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. View abstract
  8. Using Kisspeptin to Predict Pubertal Outcomes for Youth With Pubertal Delay. J Clin Endocrinol Metab. 2020 08 01; 105(8). View abstract
  9. 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. View abstract
  10. 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. View abstract
  11. 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. View abstract
  12. PRACTICE VARIATION IN THE MANAGEMENT OF GIRLS AND BOYS WITH DELAYED PUBERTY. Endocr Pract. 2020 Mar; 26(3):267-284. View abstract
  13. Creating the Trans Youth Research Network: A Collaborative Research Endeavor. Transgend Health. 2019; 4(1):304-312. View abstract
  14. Predictors of Psychosocial Distress in Parents of Young Children with Disorders of Sex Development. J Urol. 2019 11; 202(5):1046-1051. View abstract
  15. Hypothalamic Reproductive Endocrine Pulse Generator Activity Independent of Neurokinin B and Dynorphin Signaling. J Clin Endocrinol Metab. 2019 10 01; 104(10):4304-4318. View abstract
  16. 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. View abstract
  17. 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. View abstract
  18. 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. View abstract
  19. Paediatric and adult-onset male hypogonadism. Nat Rev Dis Primers. 2019 May 30; 5(1):38. View abstract
  20. 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. View abstract
  21. TESTICULAR REGRESSION SYNDROME: PRACTICE VARIATION IN DIAGNOSIS AND MANAGEMENT. Endocr Pract. 2019 Aug; 25(8):779-786. View abstract
  22. The Utility of Potassium Monitoring in Gender-Diverse Adolescents Taking Spironolactone. J Endocr Soc. 2019 May 01; 3(5):1031-1038. View abstract
  23. Ethical issues with early genitoplasty in children with disorders of sex development. Curr Opin Endocrinol Diabetes Obes. 2019 02; 26(1):49-53. View abstract
  24. Genetic evaluation of disorders of sex development: current practice and novel gene discovery. Curr Opin Endocrinol Diabetes Obes. 2019 02; 26(1):54-59. View abstract
  25. 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. View abstract
  26. Baseline Characteristics of Infants With Atypical Genital Development: Phenotypes, Diagnoses, and Sex of Rearing. J Endocr Soc. 2019 Jan 01; 3(1):264-272. View abstract
  27. 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. View abstract
  28. Assessing Sex Steroid Influence on Kisspeptin Responsiveness in Idiopathic Hypogonadotropic Hypogonadism. J Endocr Soc. 2018 Nov 01; 2(11):1293-1305. View abstract
  29. Genetics of pubertal timing. Curr Opin Pediatr. 2018 08; 30(4):532-540. View abstract
  30. 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. View abstract
  31. Divergent responses to kisspeptin in children with delayed puberty. JCI Insight. 2018 04 19; 3(8). View abstract
  32. 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. View abstract
  33. The Biological Contributions to Gender Identity and Gender Diversity: Bringing Data to the Table. Behav Genet. 2018 03; 48(2):95-108. View abstract
  34. Case 3-2018: A 5-Month-Old Boy with Hypoglycemia. N Engl J Med. 2018 Jan 25; 378(4):381-389. View abstract
  35. Continuous Kisspeptin Administration in Postmenopausal Women: Impact of Estradiol on Luteinizing Hormone Secretion. J Clin Endocrinol Metab. 2017 06 01; 102(6):2091-2099. View abstract
  36. Adult Consequences of Self-Limited Delayed Puberty. Pediatrics. 2017 Jun; 139(6). View abstract
  37. Recent findings on the genetics of disorders of sex development. Curr Opin Urol. 2017 01; 27(1):1-6. View abstract
  38. 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. View abstract
  39. Prospective assessment of cosmesis before and after genital surgery. J Pediatr Urol. 2017 Feb; 13(1):28.e1-28.e6. View abstract
  40. Two Unrelated Undervirilized 46,XY Males with Inherited NR5A1 Variants Identified by Whole-Exome Sequencing. Horm Res Paediatr. 2017; 87(4):264-270. View abstract
  41. Determinants of Power in Gene-Based Burden Testing for Monogenic Disorders. Am J Hum Genet. 2016 09 01; 99(3):527-539. View abstract
  42. Phenotypic spectrum of POLR3B mutations: isolated hypogonadotropic hypogonadism without neurological or dental anomalies. J Med Genet. 2017 01; 54(1):19-25. View abstract
  43. Kisspeptin Responsiveness Signals Emergence of Reproductive Endocrine Activity: Implications for Human Puberty. J Clin Endocrinol Metab. 2016 08; 101(8):3061-9. View abstract
  44. Growth morbidity in patients with cloacal exstrophy: a 42-year experience. J Pediatr Surg. 2016 Jun; 51(6):1017-21. View abstract
  45. Fertility Issues for Patients with Hypogonadotropic Causes of Delayed Puberty. Endocrinol Metab Clin North Am. 2015 Dec; 44(4):821-34. View abstract
  46. A shared genetic basis for self-limited delayed puberty and idiopathic hypogonadotropic hypogonadism. J Clin Endocrinol Metab. 2015 Apr; 100(4):E646-54. View abstract
  47. 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. View abstract
  48. 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. View abstract
  49. 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. View abstract
  50. Redundancy in Kiss1 expression safeguards reproduction in the mouse. Endocrinology. 2013 Aug; 154(8):2784-94. View abstract
  51. Ataxia, dementia, and hypogonadotropism caused by disordered ubiquitination. N Engl J Med. 2013 May 23; 368(21):1992-2003. View abstract
  52. 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. View abstract
  53. Effects of kisspeptin on hormone secretion in humans. Adv Exp Med Biol. 2013; 784:89-112. View abstract
  54. Reversal and relapse of hypogonadotropic hypogonadism: resilience and fragility of the reproductive neuroendocrine system. J Clin Endocrinol Metab. 2014 Mar; 99(3):861-70. View abstract
  55. 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. View abstract
  56. Uncovering novel reproductive defects in neurokinin B receptor null mice: closing the gap between mice and men. Endocrinology. 2012 Mar; 153(3):1498-508. View abstract
  57. Olfactory phenotypic spectrum in idiopathic hypogonadotropic hypogonadism: pathophysiological and genetic implications. J Clin Endocrinol Metab. 2012 Jan; 97(1):E136-44. View abstract
  58. GnRH-deficient phenotypes in humans and mice with heterozygous variants in KISS1/Kiss1. J Clin Endocrinol Metab. 2011 Nov; 96(11):E1771-81. View abstract
  59. 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. View abstract
  60. Kisspeptin resets the hypothalamic GnRH clock in men. J Clin Endocrinol Metab. 2011 Jun; 96(6):E908-15. View abstract
  61. 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. View abstract
  62. 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. View abstract
  63. Kisspeptin/Gpr54-independent gonadotrophin-releasing hormone activity in Kiss1 and Gpr54 mutant mice. J Neuroendocrinol. 2009 Dec; 21(12):1015-23. View abstract
  64. GNRH1 mutations in patients with idiopathic hypogonadotropic hypogonadism. Proc Natl Acad Sci U S A. 2009 Jul 14; 106(28):11703-8. View abstract
  65. Reproductive functions of kisspeptin and Gpr54 across the life cycle of mice and men. Peptides. 2009 Jan; 30(1):42-8. View abstract
  66. Electroencephalographic changes and seizures in familial hemiplegic migraine patients with the CACNA1A gene S218L mutation. J Clin Neurosci. 2008 Aug; 15(8):891-4. View abstract
  67. 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. View abstract
  68. Kiss1-/- mice exhibit more variable hypogonadism than Gpr54-/- mice. Endocrinology. 2007 Oct; 148(10):4927-36. View abstract