RavikumarBalasubramanianMD

PubMed

• 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, Barney Hill, Frederik Heymann Lassen, Melody J Parker, Saskia Reibe, Ahmed ...> ;Medrxiv. 2024 Mar 20
• Polycystic Ovary Syndrome Physiologic Pathways Implicated Through Clustering of Genetic Loci.
  Maria I Stamou, Kirk T Smith, Hyunkyung Kim, Ravikumar Balasubramanian, Kathryn J Gray, Miriam S Udler> ;The Journal of Clinical Endocrinology and Metabolism. 2024 Mar 15
• 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> ;Human Genetics. 2023 Nov 1
• Behind the scenes: epigenetic mechanisms rule the roost in pubertal timing.
  Ravikumar Balasubramanian> ;The Lancet. Diabetes & Endocrinology. 2023 Aug 1
• 1 citations
  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 Jr, Kathryn B Salnikov, Angela Delaney, Janet E Hall, Ruslan Sadreyev, Fei Ji, Eric Fli...> ;Genetics in Medicine. 2023 Jun 1
• 1 citations
  A functional spectrum of PROKR2 mutations identified in isolated hypogonadotropic hypogonadism.
  Xinying Wang, Danna Chen, Yaguang Zhao, Meichao Men, Zhiheng Chen, Fang Jiang, Ruizhi Zheng, Maria I Stamou, Lacey Plummer, Ravikumar Balasubramanian, Jia-Da Li> ;Human Molecular Genetics. 2023 May 5
• 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, Karen J Tonsfeldt, Rebecca A Rojas, Vanessa Ferreira Lopes, Lacey Plummer, Kathryn B S...> ;JCI Insight. 2023 Feb 8
• 1 citations
  mutation in humans with pubertal failure alters GnRH transcript expression.
  Hyun-Ju Cho, Fatih Gurbuz, Maria Stamou, Leman Damla Kotan, Stephen Matthew Farmer, Sule Can, Miranda Faith Tompkins, Jamala Mammadova, S Ayca Altincik, Cumali Gokce, ...> ;Frontiers in Endocrinology. 2023 Jan 1
• 2 citations
  Reproductive Phenotypes and Genotypes in Men With IHH.
  Andrew A Dwyer, Maria I Stamou, Ella Anghel, Shira Hornstein, Danna Chen, Kathryn B Salnikov, Isabella R McDonald, Lacey Plummer, Stephanie B Seminara, Ravikumar Balas...> ;The Journal of Clinical Endocrinology and Metabolism. 2023 Mar 10
• 1 citations
  The p190 RhoGAPs, ARHGAP35, and ARHGAP5 are implicated in GnRH neuronal development: Evidence from patients with idiopathic hypogonadotropic hypogonadism, zebrafish, a...
  Margaret F Lippincott, Wanxue Xu, Abigail A Smith, Xinyu Miao, Agathe Lafont, Omar Shennib, Gordon J Farley, Riwa Sabbagh, Angela Delaney, Maria Stamou, Lacey Plummer,...> ;Genetics in Medicine. 2022 Dec 1
• 10 citations
  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, Stephanie B Seminara> ;The Journal of Clinical Endocrinology and Metabolism. 2022 Jul 14
• 5 citations
  Prevalence and Phenotypic Effects of Copy Number Variants in Isolated Hypogonadotropic Hypogonadism.
  Maria I Stamou, Harrison Brand, Mei Wang, Isaac Wong, Margaret F Lippincott, Lacey Plummer, William F Crowley, Michael Talkowski, Stephanie Seminara, Ravikumar Balasub...> ;The Journal of Clinical Endocrinology and Metabolism. 2022 Jul 14
• 1 citations
  Low Perinatal Androgens Predict Recalled Childhood Gender Nonconformity in Men.
  Talia N Shirazi, Heather Self, Kevin A Rosenfield, Khytam Dawood, Lisa L M Welling, Rodrigo Cárdenas, J Michael Bailey, Ravikumar Balasubramanian, Angela Delaney, S Ma...> ;Psychological Science. 2022 Mar 1
• 1 citations
  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, Kathryn B Salnikov, Lacey Plummer, Stephanie B Seminara, Ravikumar Balasubramanian> ;Frontiers in Endocrinology. 2022 Jan 1
• Evidence that perinatal ovarian hormones promote women’s sexual attraction to men
  Talia N. Shirazi, Heather Self, Khytam Dawood, Lisa L. M. Welling, Rodrigo A. Cárdenas, Kevin A. Rosenfield, J. Michael Bailey, Ravikumar Balasubramanian, Angela Delan...> ;Psychoneuroendocrinology. 2021 Sep 27
• 6 citations
  Phenotypic continuum between Waardenburg syndrome and idiopathic hypogonadotropic hypogonadism in humans with SOX10 variants.
  Rebecca A. Rojas, Anna A. Kutateladze, Lacey Plummer, Maria I. Stamou, David L. Keefe, Kathyrn B. Salnikov, Angela Delaney, Janet E. Hall, Ruslan I. Sadreyev, Fei Ji, ...> ;Genetics in Medicine. 2021 Jan 13
• 1 citations
  Hypothalamic Ceramides and the Ovarian Sympathetic System: At the Crossroads of Obesity and Puberty.
  Maria I. Stamou, Ravikumar Balasubramanian> ;Cell Metabolism. 2021 Jan 5
• 4 citations
  Kallmann syndrome and idiopathic hypogonadotropic hypogonadism: The role of semaphorin signaling on GnRH neurons.
  Anna Cariboni, Ravikumar Balasubramanian> ;Handbook of Clinical Neurology. 2021 Jan 1
• 15 citations
  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, Stephanie B. Seminara> ;Journal of Genetic Counseling. 2021 Apr 1
• 3 citations
  Pubertal timing predicts adult psychosexuality: Evidence from typically developing adults and adults with isolated GnRH deficiency
  Talia N. Shirazi, Heather Self, Khytam Dawood, Rodrigo A. Cárdenas, Lisa L. M. Welling, Kevin A. Rosenfield, Triana L. Ortiz, Justin M. Carré, Ravikumar Balasubramania...> ;Psychoneuroendocrinology. 2020 Sep 1
• 6 citations
  TCF12 haploinsufficiency causes autosomal dominant Kallmann syndrome and reveals network-level interactions between causal loci.
  Erica E. Davis, Ravikumar Balasubramanian, Zachary A. Kupchinsky, David L. Keefe, Lacey Plummer, Kamal Khan, Blazej Meczekalski, Karen E. Heath, Vanesa López-González,...> ;Human Molecular Genetics. 2020 Aug 11
• 4 citations
  Hypogonadotropic hypogonadism due to variants in RAB3GAP2: expanding the phenotypic and genotypic spectrum of Martsolf syndrome.
  Wanxue Xu, Lacey Plummer, Richard Quinton, Francesca Swords, William F. Crowley, Stephanie B. Seminara, Ravikumar Balasubramanian> ;Cold Spring Harbor Molecular Case Studies. 2020 Jun 12
• 7 citations
  Timing of peripubertal steroid exposure predicts visuospatial cognition in men: Evidence from three samples.
  Talia N. Shirazi, Heather Self, James M. Cantor, Khytam Dawood, Rodrigo A. Cárdenas, Kevin A. Rosenfield, Triana L. Ortiz, Justin M. Carré, Michael A. McDaniel, Ray Bl...> ;Hormones and Behavior. 2020 May 1
• 23 citations
  A Balanced Translocation in Kallmann Syndrome Implicates a Long Noncoding RNA, RMST, as a GnRH Neuronal Regulator.
  Maria I. Stamou, Shi-Yan Ng, Harrison Brand, Harold Z. Wang, Lacey Plummer, Lyle G. Best, Steven Havlicek, Martin L. Hibberd, Chiea Chuen Khor, James F. Gusella, Ravik...> ;The Journal of Clinical Endocrinology and Metabolism. 2020 Mar 1
• 21 citations
  Gli3 regulates vomeronasal neurogenesis, olfactory ensheathing cell formation and GnRH-1 neuronal migration
  Ed Zandro M. Taroc, Ankana S. Naik, Jennifer M. Lin, Nicolas B. Peterson, David L. Keefe, Elizabet Genis, Gabriele Fuchs, Ravikumar Balasubramanian, Paolo E. Forni> ;The Journal of Neuroscience. 2020 Jan 8
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Lectures

• Male Gonadal Function 
  ENDO 2019 - New Orleans, LA - 3/24/2019