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Author Details

Colm O'Dushlaine
2005
71
41
PMIDPaper TitleJournal TitlePublished Year
37719143Whole-genome sequencing across 449 samples spanning 47 ethnolinguistic groups provides insights into genetic diversity in Nigeria.Cell Genom2023
35176222Whole-genome analysis of human embryonic stem cells enables rational line selection based on genetic variation.Cell Stem Cell2022
34184762Genome-wide association analysis of serum alanine and aspartate aminotransferase, and the modifying effects of BMI in 388k European individuals.Genet Epidemiol2021
34017140Computationally efficient whole-genome regression for quantitative and binary traits.Nat Genet2021
34115965Pan-ancestry exome-wide association analyses of COVID-19 outcomes in 586,157 individuals.Am J Hum Genet2021
33619501Genome-wide analysis in 756,646 individuals provides first genetic evidence that <i>ACE2</i> expression influences COVID-19 risk and yields genetic risk scores predictive of severe disease.medRxiv2021
33655273A catalog of associations between rare coding variants and COVID-19 outcomes.medRxiv2021
33087929Exome sequencing and characterization of 49,960 individuals in the UK Biobank.Nature2020
31118516Exome sequencing of 20,791 cases of type 2 diabetes and 24,440 controls.Nature2019
30462333Schizophrenia is Associated With an Aberrant Immune Response to Epstein-Barr Virus.Schizophrenia Bulletin2019
29727688Profiling and Leveraging Relatedness in a Precision Medicine Cohort of 92,455 Exomes.Am J Hum Genet2018
30061737Biobank-driven genomic discovery yields new insight into atrial fibrillation biology.Nat Genet2018
29899519Genetic inactivation of ANGPTL4 improves glucose homeostasis and is associated with reduced risk of diabetes.Nat Commun2018
29306175Joint evaluation of serum C-Reactive Protein levels and polygenic risk scores as risk factors for schizophrenia.Psychiatry Research2018
29562163A Protein-Truncating HSD17B13 Variant and Protection from Chronic Liver Disease.N Engl J Med2018
29290336Genome-wide Study of Atrial Fibrillation Identifies Seven Risk Loci and Highlights Biological Pathways and Regulatory Elements Involved in Cardiac Development.Am J Hum Genet2018
27869829Contribution of copy number variants to schizophrenia from a genome-wide study of 41,321 subjects.Nat Genet2017
28538136Genetic and Pharmacologic Inactivation of ANGPTL3 and Cardiovascular Disease.N Engl J Med2017
29042551Integrating evolutionary and regulatory information with a multispecies approach implicates genes and pathways in obsessive-compulsive disorder.Nat Commun2017
28267856Association of Rare and Common Variation in the Lipoprotein Lipase Gene With Coronary Artery Disease.JAMA2017
27759917Implication of LRRC4C and DPP6 in neurodevelopmental disorders.Am J Med Genet A2017
27792727No Reliable Association between Runs of Homozygosity and Schizophrenia in a Well-Powered Replication Study.PLoS Genet2016
26933753Inactivating Variants in ANGPTL4 and Risk of Coronary Artery Disease.N Engl J Med2016
26382196CLAMMS: a scalable algorithm for calling common and rare copy number variants from exome sequencing data.Bioinformatics2016
28008010Genetic identification of familial hypercholesterolemia within a single U.S. health care system.Science2016
28008009Distribution and clinical impact of functional variants in 50,726 whole-exome sequences from the DiscovEHR study.Science2016
26286434New data and an old puzzle: the negative association between schizophrenia and rheumatoid arthritis.Int J Epidemiol2015
25733313Characterization of bipolar disorder patient-specific induced pluripotent stem cells from a family reveals neurodevelopmental and mRNA expression abnormalities.Mol Psychiatry2015
25062598Copy number variation in obsessive-compulsive disorder and tourette syndrome: a cross-disorder study.J Am Acad Child Adolesc Psychiatry2014
25279985Cryptic and complex chromosomal aberrations in early-onset neuropsychiatric disorders.Am J Hum Genet2014
24217254Evidence that duplications of 22q11.2 protect against schizophrenia.Mol Psychiatry2014
24163246CNV analysis in a large schizophrenia sample implicates deletions at 16p12.1 and SLC1A1 and duplications at 1p36.33 and CGNL1.Hum Mol Genet2014
24284030The one and the many: effects of the cell adhesion molecule pathway on neuropsychological function in psychosis.Psychological Medicine2014
24474471An inherited duplication at the gene p21 Protein-Activated Kinase 7 (PAK7) is a risk factor for psychosis.Hum Mol Genet2014
24463508A polygenic burden of rare disruptive mutations in schizophrenia.Nature2014
23871472Reciprocal duplication of the Williams-Beuren syndrome deletion on chromosome 7q11.23 is associated with schizophrenia.Biol Psychiatry2014
24776740Copy number variation in schizophrenia in Sweden.Mol Psychiatry2014
24586781Pathway analyses implicate glial cells in schizophrenia.PLoS One2014
24581549Genetic modifiers and subtypes in schizophrenia: investigations of age at onset, severity, sex and family history.Schizophr Res2014
24529801Rare copy number variation in treatment-resistant major depressive disorder.Biol Psychiatry2014
23606572Meta-analysis of association between obsessive-compulsive disorder and the 3' region of neuronal glutamate transporter gene SLC1A1.Am J Med Genet B Neuropsychiatr Genet2013
22850628Cis-acting regulation of brain-specific ANK3 gene expression by a genetic variant associated with bipolar disorder.Mol Psychiatry2013
23825302Natural selection in a bangladeshi population from the cholera-endemic ganges river delta.Sci Transl Med2013
23938935Detecting large copy number variants using exome genotyping arrays in a large Swedish schizophrenia sample.Mol Psychiatry2013
23933821Genetic relationship between five psychiatric disorders estimated from genome-wide SNPs.Nat Genet2013
23974872Genome-wide association analysis identifies 13 new risk loci for schizophrenia.Nat Genet2013
22513993INRICH: interval-based enrichment analysis for genome-wide association studies.Bioinformatics2012
22843986zCall: a rare variant caller for array-based genotyping: genetics and population analysis.Bioinformatics2012
22688191Genome-wide association study in a Swedish population yields support for greater CNV and MHC involvement in schizophrenia compared with bipolar disorder.Mol Psychiatry2012
21589856Genetic classification of populations using supervised learning.PLoS ONE2011
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University of North Carolina at Chapel Hill
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Karolinska Institutet
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Brigham and Women's Hospital
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Geisinger Medical Center
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Regeneron Pharmaceuticals
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University of Maryland School of Medicine
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Regeneron Pharmaceuticals, Inc.
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Vanderbilt University Medical Center
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Massachusetts General Hospital
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Regeneron Pharmaceuticals Inc.
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Karolinska Institutet
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University of Florida, College of Medicine-Jacksonville
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Center for Systems Genomics, Pennsylvania State University, University Park
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