Featured Publications

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.

The chromatin remodeling protein CHD7, mutated in CHARGE syndrome, is necessary for proper craniofacial and tracheal development.Sperry ED, Hurd EA, Durham MA, Reamer EN, Stein AB, Martin DM.Dev Dyn. 2014 Sep;243(9):1055-66.

Transcriptome sequencing from diverse human populations reveals differentiated regulatory architecture.Martin AR, Costa HA, Lappalainen T, Henn BM, Kidd JM, Yee MC, Grubert F, Cann HM, Snyder M, Montgomery SB, Bustamante CD.PLoS Genet.2014 Aug 14;10(8):e1004549.

Clinical and biochemical profiles suggest fibromuscular dysplasia is a systemic disease with altered TGF-β expression and connective tissue features.Ganesh SK, Morissette R, Xu Z, Schoenhoff F, Griswold BF, Yang J, Tong L, Yang ML, Hunker K, Sloper L, Kuo S, Raza R, Milewicz DM, Francomano CA, Dietz HC, Van Eyk J, McDonnell NB.FASEB J. 2014 Aug;28(8):3313-24.

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.Hum Mutat. 2014 Aug 28. doi:10.1002/humu.22681. [Epub ahead of print].

Rate of elongation by RNA polymerase II is associated with specific gene features and epigenetic modifications.Veloso A, Kirkconnell KS, Magnuson B, Biewen B, Paulsen MT, Wilson TE, Ljungman M.Genome Res. 2014 Jun;24(6):896-905

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