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Author Details

Frederick G Otieno
2007
34
27
PMIDPaper TitleJournal TitlePublished Year
37120522Rare recurrent copy number variations in metabotropic glutamate receptor interacting genes in children with neurodevelopmental disorders.J Neurodev Disord2023
31937769Rare copy number variants in over 100,000 European ancestry subjects reveal multiple disease associations.Nat Commun2020
28214039Beyond Ecosystem Services: Valuing the Invaluable.Trends in Ecology and Evolution2017
27016798Mutation in IRF2BP2 is responsible for a familial form of common variable immunodeficiency disorder.J Allergy Clin Immunol2016
24515575AGC1 Deficiency Causes Infantile Epilepsy, Abnormal Myelination, and Reduced N-Acetylaspartate.JIMD Rep2014
24467814Identification of rare DNA sequence variants in high-risk autism families and their prevalence in a large case/control population.Mol Autism2014
24973975Erratum to: AGC1 Deficiency Causes Infantile Epilepsy, Abnormal Myelination, and Reduced N-Acetylaspartate.JIMD Rep2014
23731542Mutations in PDGFRB cause autosomal-dominant infantile myofibromatosis.Am J Hum Genet2013
23869080A missense mutation in ANKRD26 segregates with thrombocytopenia.Blood2013
23889995Whole-genome DNA/RNA sequencing identifies truncating mutations in RBCK1 in a novel Mendelian disease with neuromuscular and cardiac involvement.Genome Med2013
23597238Whole-genome sequencing in an autism multiplex family.Mol Autism2013
27625808Examination of genetic variants influencing lipid traits in pediatric populations.J Pediatr Genet2012
20489179Strong synaptic transmission impact by copy number variations in schizophrenia.Proc Natl Acad Sci U S A2010
20950786A genome-wide study reveals copy number variants exclusive to childhood obesity cases.Am J Hum Genet2010
19933996Examination of all type 2 diabetes GWAS loci reveals HHEX-IDE as a locus influencing pediatric BMI.Diabetes2010
20546612The role of height-associated loci identified in genome wide association studies in the determination of pediatric stature.BMC Med Genet2010
18840781Follow-up analysis of genome-wide association data identifies novel loci for type 1 diabetes.Diabetes2009
23776345Association of the BANK 1 R61H variant with systemic lupus erythematosus in Americans of European and African ancestry.Appl Clin Genet2009
19592680High-resolution mapping and analysis of copy number variations in the human genome: a data resource for clinical and research applications.Genome Res2009
19592620Examination of type 2 diabetes loci implicates CDKAL1 as a birth weight gene.Diabetes2009
19265794Investigation of the locus near MC4R with childhood obesity in Americans of European and African ancestry.Obesity (Silver Spring)2009
19404257Autism genome-wide copy number variation reveals ubiquitin and neuronal genes.Nature2009
19478790The role of obesity-associated loci identified in genome-wide association studies in the determination of pediatric BMI.Obesity (Silver Spring)2009
1966080117q12-21 variants interact with smoke exposure as a risk factor for pediatric asthma but are equally associated with early-onset versus late-onset asthma in North Americans of European ancestry.J Allergy Clin Immunol2009
19656524A genome-wide association study identifies a locus for nonsyndromic cleft lip with or without cleft palate on 8q24.J Pediatr2009
19915574Common variants at five new loci associated with early-onset inflammatory bowel disease.Nat Genet2009
18758464Loci on 20q13 and 21q22 are associated with pediatric-onset inflammatory bowel disease.Nat Genet2008
18760456ORMDL3 variants associated with asthma susceptibility in North Americans of European ancestry.J Allergy Clin Immunol2008
18335027Association analysis of the FTO gene with obesity in children of Caucasian and African ancestry reveals a common tagging SNP.PLoS One2008
18198356A novel susceptibility locus for type 1 diabetes on Chr12q13 identified by a genome-wide association study.Diabetes2008
18576341Association of the TRAF1-C5 locus on chromosome 9 with juvenile idiopathic arthritis.Arthritis Rheum2008
17618837Association of variants of the interleukin-23 receptor gene with susceptibility to pediatric Crohn's disease.Clin Gastroenterol Hepatol2007
17625155Association of the T300A non-synonymous variant of the ATG16L1 gene with susceptibility to paediatric Crohn's disease.Gut2007
17498268Allograft inflammatory factor-1 and tumor necrosis factor single nucleotide polymorphisms in systemic sclerosis.2007
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