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A Novel Susceptibility Locus for Type 1 Diabetes on Chr12q13 Identified by a Genome-Wide Association Study

Hakonarson, H.; Qu, H.; Bradfield, J. P.; Marchand, L.; Kim, C. E.; Glessner, J. T.; Grabs, R.; Casalunovo, T.; Taback, S. P.; Frackelton, E. C.; Eckert, A. W.; Annaiah, K.; Lawson, M. L.; Otieno, George Ochieng; Santa, E.; Shaner, J. L.; Smith, R. M.; Onyiah, C. C.; Skraban, R.; Chiavacci, R. M.; Robinson, L. J.; Stanley, C. A.; Kirsch, S. E.; Devoto, M.; Monos, D. S.; Grant, S. F. A.; Polychronakos, C. (American Diabetes Association, 2008-04)

OBJECTIVE—In stage 1 of our genome-wide association (GWA) study for type 1 diabetes, one locus at 16p13 was detected (P = 1.03 × 10−10) and confirmed in two additional cohorts. Here we describe the results of testing, in ...

Whole-genome sequencing in an autism multiplex family

Otieno, F. G.; Shi, L.; Zhang, X.; Golhar, R.; He, M.; Hou, C.; Kim, C.; Keating, B.; Lyon, G.J.; Wang, K.; Hakonarson, H. (BioMed Central, 2013)

Background: Autism spectrum disorders (ASDs) represent a group of childhood neurodevelopmental disorders that affect 1 in 88 children in the US. Previous exome sequencing studies on family trios have implicated a role for ...

Identification of rare DNA sequence variants in high-risk autism families and their prevalence in a large case/control population

Otieno, F. G.; Matsunami, Nori; Hensel, Charles H; Baird, Lisa; Stevens, Jeff; Otterud, Brith; Leppert, Tami; Varvil, Tena; Hadley, Dexter; Glessner, Joseph T; Pellegrino, Renata; Kim, Cecilia; Thomas, Kelly; Wang, Fengxiang; Ho, Karen; Christensen, Gerald B; Li, Dongying; Prekeris, Rytis; Lambert, Christophe G; Hakonarson, H.; Leppert, Mark F (BioMed Central, 2014)

Background: Genetics clearly plays a major role in the etiology of autism spectrum disorders (ASDs), but studies to date are only beginning to characterize the causal genetic variants responsible. Until recently, studies ...

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

ORMDL3 variants associated with asthma susceptibility in North Americans of European ancestry

Sleiman, P. M. A.; Annaiah, K.; Imielinski, M.; Bradfield, J. P.; Kim, C. E.; Frackelton, E. C.; Glessner, J. T.; Eckert, A. W.; Otieno, F. G.; Santa, E.; Thomas, K.; Smith, R. M.; Glaberson, W.; Garris, M.; Gunnlaugsson, S.; Chiavacci, R. M.; Allen, J.; Spergel, J.; Grundmeier, R.; Grunstein, M. M.; Magnusson, M.; Bisgaard, H.; Grant, S. F. A.; Hakonarson, H. (Elsevier, 2008-12)

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. ...