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.

Age-related changes in auditory nerve-inner hair cell connections, hair cell numbers, auditory brain stem response and gap detection in UM-HET4 mice. Altschuler RA, Dolan DF, Halsey K, Kanicki A, Deng N, Martin C, Eberle J, Kohrman DC, Miller RA, Schacht J. Neuroscience. 2015 Feb 7. pii: S0306-4522(15)00136-0.

Exome Sequencing for the Diagnosis of 46,XY Disorders of Sex Development. Baxter RM, Arboleda VA, Lee H, Barseghyan H, Adam MP, Fechner PY, Bargman R, Keegan C, Travers S, Schelley S, Hudgins L, Mathew RP, Stalker HJ, Zori R, Gordon OK, Ramos-Platt L, Pawlikowska-Haddal A, Eskin A, Nelson SF, Délot E, Vilain E. J Clin Endocrinol Metab. 2015 Feb;100(2):E333-44.

Deletion of OTX2 in neural ectoderm delays anterior pituitary development. Mortensen AH, Schade V, Lamonerie T, Camper SA. Hum Mol Genet. 2015 Feb 15;24(4):939-53.

Lhx4 deficiency: increased cyclin dependent kinase inhibitor expression and pituitary hypoplasia.Gergics P, Brinkmeier ML, Camper SA. Mol Endocrinol. 2015 Feb 10:me20141380. [Epub ahead of print]

Large transcription units unify copy number variants and common fragile sites arising under replication stress. Wilson TE, Arlt MF, Park SH, Rajendran S, Paulsen M, Ljungman M, Glover TW. Genome Res. 2015 Feb;25(2):189-200.

Impaired Function is a Common Feature of Neuropathy-Associated Glycyl-tRNA Synthetase Mutations. Griffin LB, Sakaguchi R, McGuigan D, Gonzalez MA, Searby C, Züchner S, Hou YM, Antonellis A. Mutations. Hum Mutat. 2014 Nov;35(11):1363-71.

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