Search

Now showing items 1-4 of 4

AGC1 Deficiency Causes Infantile Epilepsy, Abnormal Myelination, and Reduced N-Acetylaspartate.

Otieno, F. G.; Falk, M.J.; Li, D.; Gai, X.; McCormick, E.; Place, E.; Lasorsa, F.M.; Hou, C.; Kim, C.E.; Abdel-Magid, N.; Vazquez, L.; Mentch, F.D.; Chiavacci, R. M.; Liang, J.; Liu, X.; Jiang, H.; Giannuzzi, G.; Marsh, E.D.; Yiran, G.; Tian, L.; Palmieri, F.; Hakonarson, H. (2014)

BACKGROUND: Whole exome sequencing (WES) offers a powerful diagnostic tool to rapidly and efficiently sequence all coding genes in individuals presenting for consideration of phenotypically and genetically heterogeneous ...

Erratum to: AGC1 Deficiency Causes Infantile Epilepsy, Abnormal Myelination, and Reduced N-Acetylaspartate

High-resolution mapping and analysis of copy number variations in the human genome: a data resource for clinical and research applications

Ochieng, Otieno, George; Shaikh, T.H.; Gai, X.; Perin, J.C.; Glessner, J.T.; Casalunovo, T.; Xie, H.; Murphy, K.; O'Hara, R.; Conlin, L.K.; D'Arcy, M.; Frackelton, E.C.; Geiger, E.A.; Haldeman-Englert, C.; Imielinski, M.; Kim, C.E.; Medne, L.; Annaiah, K.; Bradfield, J.P.; Dabaghyan, E. (Cold Spring Harbor Laboratory Press, 2009-09-19)

We present a database of copy number variations (CNVs) detected in 2026 disease-free individuals, using high-density, SNP-based oligonucleotide microarrays. This large cohort, comprised mainly of Caucasians (65.2%) and ...

Association analysis of the FTO gene with obesity in children of Caucasian and African ancestry reveals a common tagging SNP

Grant, S.F.; Li, M.; Bradfield, J.P.; Kim, C.E.; Annaiah, K.; Santa, E.; Glessner, J.T.; Casalunovo, T.; Frackelton, E.C.; Otieno, George Ochieng; Shaner, J.L.; Smith, R.M.; Imielinski, M.; Eckert, A. W.; Chiavacci, R. M.; Berkowitz, R.I.; Hakonarson, H. (Public Library of Science, 2008-03)

Recently an association was demonstrated between the single nucleotide polymorphism (SNP), rs9939609, within the FTO locus and obesity as a consequence of a genome wide association (GWA) study of type 2 diabetes in adults. ...