Stephanie Beth Seminara, M.D.
This page shows the publications co-authored by Stephanie Seminara and Ravikumar Balasubramanian.
Kisspeptin Overcomes GnRH Neuronal Suppression Secondary to Hyperprolactinemia in the Human. J Clin Endocrinol Metab. 2022 Mar 22.
Phenotypic continuum between Waardenburg syndrome and idiopathic hypogonadotropic hypogonadism in humans with SOX10 variants. Genet Med. 2021 04; 23(4):629-636.
Evaluating co-created patient-facing materials to increase understanding of genetic test results. J Genet Couns. 2021 04; 30(2):598-605.
Hypogonadotropic hypogonadism due to variants in RAB3GAP2: expanding the phenotypic and genotypic spectrum of Martsolf syndrome. Cold Spring Harb Mol Case Stud. 2020 06; 6(3).
Functional Hypogonadotropic Hypogonadism in Men: Underlying Neuroendocrine Mechanisms and Natural History. J Clin Endocrinol Metab. 2019 08 01; 104(8):3403-3414.
Reversal and relapse of hypogonadotropic hypogonadism: resilience and fragility of the reproductive neuroendocrine system. J Clin Endocrinol Metab. 2014 Mar; 99(3):861-70.
Olfactory phenotypic spectrum in idiopathic hypogonadotropic hypogonadism: pathophysiological and genetic implications. J Clin Endocrinol Metab. 2012 Jan; 97(1):E136-44.
Human GnRH deficiency: a unique disease model to unravel the ontogeny of GnRH neurons. Neuroendocrinology. 2010; 92(2):81-99.
Insight Into the Ontogeny of GnRH Neurons From Patients Born Without a Nose. J Clin Endocrinol Metab. 2020 05 01; 105(5).
Corrigendum: SMCHD1 mutations associated with a rare muscular dystrophy can also cause isolated arhinia and Bosma arhinia microphthalmia syndrome. Nat Genet. 2017 05 26; 49(6):969.
SMCHD1 mutations associated with a rare muscular dystrophy can also cause isolated arhinia and Bosma arhinia microphthalmia syndrome. Nat Genet. 2017 Feb; 49(2):238-248.
Prioritizing genetic testing in patients with Kallmann syndrome using clinical phenotypes. J Clin Endocrinol Metab. 2013 May; 98(5):E943-53.
The role of the prokineticin 2 pathway in human reproduction: evidence from the study of human and murine gene mutations. Endocr Rev. 2011 Apr; 32(2):225-46.
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