Prioritizing genetic testing in patients with Kallmann syndrome using clinical phenotypes FA Costa-Barbosa, R Balasubramanian, KW Keefe, ND Shaw, ... The Journal of Clinical Endocrinology & Metabolism 98 (5), E943-E953, 2013 | 186 | 2013 |
Reversal and relapse of hypogonadotropic hypogonadism: resilience and fragility of the reproductive neuroendocrine system VF Sidhoum, YM Chan, MF Lippincott, R Balasubramanian, R Quinton, ... The Journal of Clinical Endocrinology & Metabolism 99 (3), 861-870, 2014 | 173 | 2014 |
SMCHD1 mutations associated with a rare muscular dystrophy can also cause isolated arhinia and Bosma arhinia microphthalmia syndrome ND Shaw, H Brand, ZA Kupchinsky, H Bengani, L Plummer, TI Jones, ... Nature genetics 49 (2), 238-248, 2017 | 165 | 2017 |
Real-time assessment of postprandial fat storage in liver and skeletal muscle in health and type 2 diabetes B Ravikumar, PE Carey, JEM Snaar, DK Deelchand, DB Cook, ... American Journal of Physiology-Endocrinology and Metabolism 288 (4), E789-E797, 2005 | 148 | 2005 |
Olfactory phenotypic spectrum in idiopathic hypogonadotropic hypogonadism: pathophysiological and genetic implications HM Lewkowitz-Shpuntoff, VA Hughes, L Plummer, MG Au, RL Doty, ... The Journal of Clinical Endocrinology & Metabolism 97 (1), E136-E144, 2012 | 131 | 2012 |
The role of the prokineticin 2 pathway in human reproduction: evidence from the study of human and murine gene mutations C Martin, R Balasubramanian, AA Dwyer, MG Au, Y Sidis, UB Kaiser, ... Endocrine reviews 32 (2), 225-246, 2011 | 130 | 2011 |
A novel syndrome caused by the E410K amino acid substitution in the neuronal β-tubulin isotype 3 S Chew, R Balasubramanian, WM Chan, PB Kang, C Andrews, BD Webb, ... Brain 136 (2), 522-535, 2013 | 127 | 2013 |
Human GnRH deficiency: a unique disease model to unravel the ontogeny of GnRH neurons R Balasubramanian, A Dwyer, SB Seminara, N Pitteloud, UB Kaiser, ... Neuroendocrinology 92 (2), 81-99, 2010 | 113 | 2010 |
Pioglitazone decreases fasting and postprandial endogenous glucose production in proportion to decrease in hepatic triglyceride content B Ravikumar, J Gerrard, C Dalla Man, MJ Firbank, A Lane, PT English, ... Diabetes 57 (9), 2288-2295, 2008 | 82 | 2008 |
The second-meal phenomenon is associated with enhanced muscle glycogen storage in humans A Jovanovic, E Leverton, B Solanky, B Ravikumar, JEM Snaar, PG Morris, ... Clinical science 117 (3), 119-127, 2009 | 78 | 2009 |
Functionally compromised CHD7 alleles in patients with isolated GnRH deficiency R Balasubramanian, JH Choi, L Francescatto, J Willer, ER Horton, ... Proceedings of the National Academy of Sciences 111 (50), 17953-17958, 2014 | 74 | 2014 |
Isolated GnRH deficiency: a disease model serving as a unique prism into the systems biology of the GnRH neuronal network R Balasubramanian, WF Crowley Jr Molecular and cellular endocrinology 346 (1-2), 4, 2011 | 72 | 2011 |
A Prevalent Variant in PPP1R3A Impairs Glycogen Synthesis and Reduces Muscle Glycogen Content in Humans and Mice DB Savage, L Zhai, B Ravikumar, CS Choi, JE Snaar, AC McGuire, ... PLoS medicine 5 (1), e27, 2008 | 63 | 2008 |
Isolated gonadotropin-releasing hormone (GnRH) deficiency R Balasubramanian, WF Crowley Jr | 55 | 2022 |
Reproductive endocrine phenotypes relating to CHD7 mutations in humans R Balasubramanian, WF Crowley Jr American Journal of Medical Genetics Part C: Seminars in Medical Genetics …, 2017 | 40 | 2017 |
Functional hypogonadotropic hypogonadism in men: underlying neuroendocrine mechanisms and natural history AA Dwyer, NR Chavan, H Lewkowitz-Shpuntoff, L Plummer, FJ Hayes, ... The Journal of Clinical Endocrinology & Metabolism 104 (8), 3403-3414, 2019 | 37 | 2019 |
An ancient founder mutation in PROKR2 impairs human reproduction M Avbelj Stefanija, M Jeanpierre, GP Sykiotis, J Young, R Quinton, ... Human molecular genetics 21 (19), 4314-4324, 2012 | 35 | 2012 |
A balanced translocation in Kallmann syndrome implicates a long noncoding RNA, RMST, as a GnRH neuronal regulator M Stamou, SY Ng, H Brand, H Wang, L Plummer, L Best, S Havlicek, ... The Journal of Clinical Endocrinology & Metabolism 105 (3), e231-e244, 2020 | 32 | 2020 |
Gli3 regulates vomeronasal neurogenesis, olfactory ensheathing cell formation, and GnRH-1 neuronal migration EZM Taroc, AS Naik, JM Lin, NB Peterson, DL Keefe, E Genis, G Fuchs, ... Journal of Neuroscience 40 (2), 311-326, 2020 | 32 | 2020 |
The puzzles of the prokineticin 2 pathway in human reproduction R Balasubramanian, L Plummer, Y Sidis, N Pitteloud, C Martin, QY Zhou, ... Molecular and cellular endocrinology 346 (1-2), 44-50, 2011 | 28 | 2011 |