Featured Publications

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.

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. 2014 Nov 4.

The genomic landscape of polymorphic human nuclear mitochondrial insertions. Dayama G, Emery SB, Kidd JM, Mills RE. Nucleic Acids Res. 2014 Nov 10;42(20):12640-9.

Genetic variants in PLG, LPA, and SIGLEC 14 as well as smoking contribute to plasma plasminogen levels. Ma Q, Ozel AB, Ramdas S, McGee B, Khoriaty R, Siemieniak D, Li HD, Guan Y, Brody LC, Mills JL, Molloy AM, Ginsburg D, Li JZ, Desch KC. Blood. 2014 Nov 13;124(20):3155-64.

Pooled segregant sequencing reveals genetic determinants of yeast pseudohyphal growth.Song Q, Johnson C, Wilson TE, Kumar A.PLoS Genet. 2014 Aug 21;10(8):e1004570.

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