Author: Daniel P Howrigan

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Preprints

Discovery Of The First Genome-Wide Significant Risk Loci For ADHD

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Common risk variants identified in autism spectrum disorder

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  • In genetics: 28
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Exome sequencing identifies rare coding variants in 10 genes which confer substantial risk for schizophrenia

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  • In genetic and genomic medicine: 10
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Systematic single-variant and gene-based association testing of thousands of phenotypes in 426,370 UK Biobank exomes

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  • In genetic and genomic medicine: 15
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A cross-disorder dosage sensitivity map of the human genome

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  • In genetic and genomic medicine: 29
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Functional equivalence of genome sequencing analysis pipelines enables harmonized variant calling across human genetics projects

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  • In bioinformatics: 796
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Ultra-rare disruptive and damaging mutations influence educational attainment in the general population

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Ultra-rare genetic variation in the epilepsies: a whole-exome sequencing study of 17,606 individuals

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  • In genetics: 387
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A contribution of novel CNVs to schizophrenia from a genome-wide study of 41,321 subjects

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Refining the role of de novo protein truncating variants in neurodevelopmental disorders using population reference samples

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  • In genetics: 680
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Exome sequencing in bipolar disorder reveals shared risk gene AKAP11 with schizophrenia

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  • In genetic and genomic medicine: 147
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Enrichment of rare protein truncating variants in amyotrophic lateral sclerosis patients

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  • In genomics: 1,878
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  • Site-wide: 126,388

Schizophrenia risk conferred by protein-coding de novo mutations

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  • In genetics: 1,439
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Paternal-age-related de novo mutations and risk for five disorders

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  • In genetics: 1,455
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Evaluation of copy number burden in specific epilepsy types from a genome-wide study of 18,564 subjects

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  • In genetics: 2,397
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  • Site-wide: 100,778

Heterogeneous Contribution of Microdeletions in the Development of Common Generalized and Focal epilepsies

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