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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 ...

Meta-analysis of Dense Genecentric Association Studies Reveals Common and Uncommon Variants Associated with Height.

Otieno, F. G.; Lanktree, M.B.; Guo, Y.; Murtaza, M.; Glessner, J.T. (Elsevier, 2011)

Height is a classic complex trait with common variants in a growing list of genes known to contribute to the phenotype. Using a genecentric genotyping array targeted toward cardiovascular-related loci, comprising 49,320 ...

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

Whole-genome DNA/RNA sequencing identifies truncating mutations in RBCK1 in a novel Mendelian disease with neuromuscular and cardiac involvement

Otieno, F. G.; Wang, Kai; Kim, Cecilia; Bradfield, Jonathan; Guo, Yunfei; Toskala, Elina; Hou, Cuiping; Thomas, Kelly; Cardinale, Christopher; Lyon, Gholson J; Golhar, Ryan; Hakonarson, Hakon (BioMed Central, 2013)

Background: Whole-exome sequencing has identified the causes of several Mendelian diseases by analyzing multiple unrelated cases, but it is more challenging to resolve the cause of extremely rare and suspected Mendelian ...

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)