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2018ZNRF3 functions in mammalian sex determination by inhibiting canonical WNT signaling, Proc. Natl. Acad. Sci. U.S.A. 2018 05;115(21):5474-5479.
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2018Loss of Function of the Nuclear Receptor NR2F2, Encoding COUP-TF2, Causes Testis Development and Cardiac Defects in 46,XX Children, Am. J. Hum. Genet. 2018 03;102(3):487-493.
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2017Anomalies in human sex determination provide unique insights into the complex genetic interactions of early gonad development, Clin. Genet. 2017 02;91(2):143-156.
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2016A recurrent p.Arg92Trp variant in steroidogenic factor-1 (NR5A1) can act as a molecular switch in human sex development, Hum. Mol. Genet. 2016 12;25(23):5286.
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2016A recurrent p.Arg92Trp variant in steroidogenic factor-1 (NR5A1) can act as a molecular switch in human sex development, Hum. Mol. Genet. 2016 08;25(16):3446-3453.