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The Journal of Clinical Endocrinology and Metabolism|January 16, 2014
Reversal and relapse of hypogonadotropic hypogonadism: resilience and fragility of the reproductive neuroendocrine systemValerie F Sidhoum, Yee-Ming Chan, Margaret F Lippincott, et al.
Psychoneuroendocrinology|June 22, 2020
Pubertal timing predicts adult psychosexuality: Evidence from typically developing adults and adults with isolated GnRH deficiencyTalia N Shirazi, Heather Self, Khytam Dawood, et al.
The Journal of Clinical Endocrinology and Metabolism|March 28, 2013
Prioritizing genetic testing in patients with Kallmann syndrome using clinical phenotypesFlavia Amanda Costa-Barbosa, Ravikumar Balasubramanian, Kimberly W Keefe, et al.
Frontiers in Endocrinology|August 21, 2023
POU6F2 mutation in humans with pubertal failure alters GnRH transcript expressionHyun-Ju Cho, Fatih Gurbuz, Maria Stamou, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|January 14, 2021
Phenotypic continuum between Waardenburg syndrome and idiopathic hypogonadotropic hypogonadism in humans with SOX10 variantsRebecca A Rojas, Anna A Kutateladze, Lacey Plummer, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|March 1, 2026
De novo rare EMX2 variants lead to idiopathic hypogonadotropic hypogonadismMaria Stamou, Miranda Tompkins, Hannah Bow, et al.
Brain : a Journal of Neurology|February 5, 2013
A novel syndrome caused by the E410K amino acid substitution in the neuronal β-tubulin isotype 3Sheena Chew, Ravikumar Balasubramanian, Wai-Man Chan, et al.
The Journal of Clinical Endocrinology and Metabolism|July 25, 2015
Expanding the Spectrum of Founder Mutations Causing Isolated Gonadotropin-Releasing Hormone DeficiencyJin-Ho Choi, Ravikumar Balasubramanian, Phil H Lee, et al.
Proceedings of the National Academy of Sciences of the United States of America|December 5, 2014
Functionally compromised CHD7 alleles in patients with isolated GnRH deficiencyRavikumar Balasubramanian, Jin-Ho Choi, Ludmila Francescatto, et al.
JCI Insight|January 5, 2023
Heterozygous mutations in SOX2 may cause idiopathic hypogonadotropic hypogonadism via dominant-negative mechanismsJessica Cassin, Maria I Stamou, Kimberly W Keefe, et al.
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