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Featured Publications

Family communication in a population at risk for hypertrophic cardiomyopathy. Batte B, Sheldon JP, Arscott P, Huismann DJ, Salberg L, Day SM, Yashar BM. J Genet Couns. 2015 Apr.

Novel associations between common breast cancer susceptibility variants and risk-predicting mammographic density measures.Stone J, Thompson DJ, Dos Santos Silva I, Scott C, Tamimi RM, Lindstrom S, Kraft P, Hazra A, Li J, Eriksson L, Czene K, Hall P, Jensen M, Cunningham J, Olson JE, Purrington K, Couch FJ, Brown J, Leyland J, Warren RM, Luben RN, Khaw, KT, Smith P, Wareham NJ, Jud SM, Heusinger K, Beckmann, MW, Douglas JA, et al. Cancer Res. 2015 Apr 10.

Lhx4 deficiency: increased cyclin-dependent kinase inhibitor expression and pituitary hypoplasia. Gergics P, Brinkmeier ML, Camper SA. Mol Endocrinol. 2015 Apr 29.

Loss-of-function alanyl-tRNA synthetase mutations cause an autosomal-recessive early-onset epileptic encephalopathy with persistent myelination defect. Simons C, Griffin LB, Helman G, Golas G, Pizzino A, Bloom M, Murphy JL, Crawford J, Evans SH, Topper S, Whitehead MT, Schreiber JM, Chapman KA, Tifft C, Lu KB, Gamper H, Shigematsu M, Taft RJ, Antonellis A, Hou YM, Vanderver A. Am J Hum Genet. 2015 Apr 2.

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