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Cox, Kimberly H; Oliveira, Luciana M B; Plummer, Lacey et al. (2018) Modeling mutant/wild-type interactions to ascertain pathogenicity of PROKR2 missense variants in patients with isolated GnRH deficiency. Hum Mol Genet 27:338-350
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Shaw, Natalie D; Brand, Harrison; Kupchinsky, Zachary A et al. (2017) SMCHD1 mutations associated with a rare muscular dystrophy can also cause isolated arhinia and Bosma arhinia microphthalmia syndrome. Nat Genet 49:238-248
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Cox, Kimberly H (2016) A Bisphenol by Any Other Name... Endocrinology 157:449-51
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Brand, Harrison; Collins, Ryan L; Hanscom, Carrie et al. (2015) Paired-Duplication Signatures Mark Cryptic Inversions and Other Complex Structural Variation. Am J Hum Genet 97:170-6
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Stamou, M I; Cox, K H; Crowley Jr, William F (2015) Discovering Genes Essential to the Hypothalamic Regulation of Human Reproduction Using a Human Disease Model: Adjusting to Life in the ""-Omics"" Era. Endocr Rev 36:603-21
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Shaw, N D; Srouji, S S; Welt, C K et al. (2015) Compensatory Increase in Ovarian Aromatase in Older Regularly Cycling Women. J Clin Endocrinol Metab 100:3539-47
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Cox, Kimberly H (2015) A Kiss and a PRomise. Endocrinology 156:3063-5
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Miraoui, Hichem; Dwyer, Andrew A; Sykiotis, Gerasimos P et al. (2013) Mutations in FGF17, IL17RD, DUSP6, SPRY4, and FLRT3 are identified in individuals with congenital hypogonadotropic hypogonadism. Am J Hum Genet 92:725-43
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Chew, Sheena; Balasubramanian, Ravikumar; Chan, Wai-Man et al. (2013) A novel syndrome caused by the E410K amino acid substitution in the neuronal ?-tubulin isotype 3. Brain 136:522-35
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Yang, Jasmine J; Caligioni, Claudia S; Chan, Yee-Ming et al. (2012) Uncovering novel reproductive defects in neurokinin B receptor null mice: closing the gap between mice and men. Endocrinology 153:1498-508
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