Publications by authors named "Ravikumar Balasubramanian"

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Expanding the phenotypic spectrum of PROK2/PROKR2: a recall-by-genotype study.
Maria I Stamou, Crystal J Chiu, Shreya V Jadhav, Kathryn B Salnikov, Lacey Plummer, Ravikumar Balasubramanian

Hum Genet· July 2025

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Genome-wide analyses identify 25 infertility loci and relationships with reproductive traits across the allele frequency spectrum.
Samvida S Venkatesh, Laura B L Wittemans, Duncan S Palmer, Nikolas A Baya, Teresa Ferreira, Ravikumar Balasubramanian

Nat Genet· May 2025

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Expanding the Spectrum of Endocrine Abnormalities Associated With SOX11-related Disorders.
Bang Sun, Maria I Stamou, Sara L Stockman, Mark B Campbell, Lacey Plummer, Ravikumar Balasubramanian

J Clin Endocrinol Metab· March 2025

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Lack of a genetic risk continuum between pubertal timing in the general population and idiopathic hypogonadotropic hypogonadism.
Lacey Plummer, Ravikumar Balasubramanian, Maria Stamou, Mark Campbell, Pranav Dewan

J Neuroendocrinol· October 2024

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Defective FGFR1 Signaling Disrupts Glucose Regulation: Evidence From Humans With Mutations.
Maria I Stamou, Crystal J Chiu, Shreya V Jadhav, Vanessa Ferreira Lopes, Kathryn B Salnikov, Ravikumar Balasubramanian

J Endocr Soc· July 2024

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Polycystic Ovary Syndrome Physiologic Pathways Implicated Through Clustering of Genetic Loci.
Maria I Stamou, Kirk T Smith, Hyunkyung Kim, Ravikumar Balasubramanian, Kathryn J Gray

J Clin Endocrinol Metab· March 2024

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Genome-wide analyses identify 21 infertility loci and over 400 reproductive hormone loci across the allele frequency spectrum.
Samvida S Venkatesh, Laura B L Wittemans, Duncan S Palmer, Nikolas A Baya, Teresa Ferreira, Ravikumar Balasubramanian

medRxiv· March 2024

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How human genetic context can inform pathogenicity classification: FGFR1 variation in idiopathic hypogonadotropic hypogonadism.
Wanxue Xu, Lacey Plummer, Stephanie B Seminara, Ravikumar Balasubramanian, Margaret F Lippincott

Hum Genet· November 2023

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Behind the scenes: epigenetic mechanisms rule the roost in pubertal timing.
Ravikumar Balasubramanian

Lancet Diabetes Endocrinol· August 2023

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mutation in humans with pubertal failure alters GnRH transcript expression.
Hyun-Ju Cho, Fatih Gurbuz, Maria Stamou, Leman Damla Kotan, Stephen Matthew Farmer, Ravikumar Balasubramanian

Front Endocrinol (Lausanne)· August 2023

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Phenotypic continuum between Waardenburg syndrome and idiopathic hypogonadotropic hypogonadism in humans with SOX10 variants.
Rebecca A Rojas, Anna A Kutateladze, Lacey Plummer, Maria Stamou, David L Keefe, Ravikumar Balasubramanian

Genet Med· June 2023

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A functional spectrum of PROKR2 mutations identified in isolated hypogonadotropic hypogonadism.
Xinying Wang, Danna Chen, Yaguang Zhao, Meichao Men, Zhiheng Chen, Ravikumar Balasubramanian

Hum Mol Genet· May 2023

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Reproductive Phenotypes and Genotypes in Men With IHH.
Andrew A Dwyer, Maria I Stamou, Ella Anghel, Shira Hornstein, Danna Chen, Ravikumar Balasubramanian

J Clin Endocrinol Metab· March 2023

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Heterozygous mutations in SOX2 may cause idiopathic hypogonadotropic hypogonadism via dominant-negative mechanisms.
Jessica Cassin, Maria I Stamou, Kimberly W Keefe, Kaitlin E Sung, Celine C Bojo, Ravikumar Balasubramanian

JCI Insight· February 2023

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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.
Margaret F Lippincott, Wanxue Xu, Abigail A Smith, Xinyu Miao, Agathe Lafont, Ravikumar Balasubramanian

Genet Med· December 2022

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Reversible hypogonadotropic hypogonadism in men with the fertile eunuch/Pasqualini syndrome: A single-center natural history study.
Andrew A Dwyer, Maria Stamou, Isabella R McDonald, Ella Anghel, Kimberly H Cox, Ravikumar Balasubramanian

Front Endocrinol (Lausanne)· November 2022

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Kisspeptin Overcomes GnRH Neuronal Suppression Secondary to Hyperprolactinemia in Humans.
Katerina Hoskova, Nora Kayton Bryant, Margaret E Chen, Lisa B Nachtigall, Margaret F Lippincott, Ravikumar Balasubramanian

J Clin Endocrinol Metab· July 2022

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Prevalence and Phenotypic Effects of Copy Number Variants in Isolated Hypogonadotropic Hypogonadism.
Maria I Stamou, Harrison Brand, Mei Wang, Isaac Wong, Margaret F Lippincott, Ravikumar Balasubramanian

J Clin Endocrinol Metab· July 2022

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Low Perinatal Androgens Predict Recalled Childhood Gender Nonconformity in Men.
Talia N Shirazi, Heather Self, Kevin A Rosenfield, Khytam Dawood, Lisa L M Welling, Ravikumar Balasubramanian

Psychol Sci· March 2022

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Evidence that perinatal ovarian hormones promote women's sexual attraction to men.
Talia N Shirazi, Heather Self, Khytam Dawood, Lisa L M Welling, Rodrigo Cárdenas, Ravikumar Balasubramanian

Psychoneuroendocrinology· December 2021

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Kallmann syndrome and idiopathic hypogonadotropic hypogonadism: The role of semaphorin signaling on GnRH neurons.
Anna Cariboni, Ravikumar Balasubramanian

Handb Clin Neurol· July 2021

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Evaluating co-created patient-facing materials to increase understanding of genetic test results.
Andrew A Dwyer, Margaret G Au, Neil Smith, Lacey Plummer, Margaret F Lippincott, Ravikumar Balasubramanian

J Genet Couns· April 2021

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Phenotypic continuum between Waardenburg syndrome and idiopathic hypogonadotropic hypogonadism in humans with SOX10 variants.
Rebecca A Rojas, Anna A Kutateladze, Lacey Plummer, Maria Stamou, David L Keefe, Ravikumar Balasubramanian

Genet Med· April 2021

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Hypothalamic Ceramides and the Ovarian Sympathetic System: At the Crossroads of Obesity and Puberty.
Maria I Stamou, Ravikumar Balasubramanian

Cell Metab· January 2021

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