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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

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 ...

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 ...