I. Objectives and Background of this Core Conducting genetic investigations and performing associated quantitative phenotyping in humans is a demanding and multidisciplinary task. However, the key to all subsequent utility and success of genetic inquiries hinge upon the successful accomplishment of these functions. Therefore, accomplishing this effectively involves the seamless integration of several complex tasks, each of which is essential to obtaining information that can be used to inform the biology of genetic investigations. It involves access to a genetically informative population in combination with a dedicated multidisciplinary team, both of which we have been fortunate to assemble in our Center over the past 5 years. The disciplines required involve the integration of quantitative human phenotyping, database management, genetic analyses, bioinformatics, and biostatistical genetics that have been key to our team's success in the past grant cycle.

National Institute of Health (NIH)
Eunice Kennedy Shriver National Institute of Child Health & Human Development (NICHD)
Specialized Center--Cooperative Agreements (U54)
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Special Emphasis Panel (ZHD1)
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Massachusetts General Hospital
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Maguire, Caroline A; Song, Yong Bhum; Wu, Min et al. (2017) Tac1 Signaling Is Required for Sexual Maturation and Responsiveness of GnRH Neurons to Kisspeptin in the Male Mouse. Endocrinology 158:2319-2329
Crowley, William F; Balasubramanian, Ravi (2017) MicroRNA-7a2 suppression causes hypogonadotropism and uncovers signaling pathways in gonadotropes. J Clin Invest 127:796-797
Abreu, Ana Paula; Kaiser, Ursula B (2016) Pubertal development and regulation. Lancet Diabetes Endocrinol 4:254-264
Simavli, Serap; Abreu, Ana Paula; Kwaan, Mary R et al. (2016) Candidate gene analysis in a case of congenital absence of the endometrium. Fertil Res Pract 2:3
Stamou, M I; Cox, K H; Crowley Jr, William F (2016) Discovering Genes Essential to the Hypothalamic Regulation of Human Reproduction Using a Human Disease Model: Adjusting to Life in the ""-Omics"" Era. Endocr Rev 2016:4-22
Cox, Kimberly H (2016) A Bisphenol by Any Other Name... Endocrinology 157:449-51
Min, Le; Nie, Min; Zhang, Anna et al. (2016) Computational Analysis of Missense Variants of G Protein-Coupled Receptors Involved in the Neuroendocrine Regulation of Reproduction. Neuroendocrinology 103:230-9
Goldberg, Mark A; Kaiser, Ursula B (2015) Editorial: The Rise of the Asterisk: One Step to Facilitate Team Science. Mol Endocrinol 29:943-5
Zhu, Jia; Choa, Ruth E-Y; Guo, Michael H et al. (2015) A shared genetic basis for self-limited delayed puberty and idiopathic hypogonadotropic hypogonadism. J Clin Endocrinol Metab 100:E646-54
Simavli, Serap; Thompson, Iain R; Maguire, Caroline A et al. (2015) Substance p regulates puberty onset and fertility in the female mouse. Endocrinology 156:2313-22

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