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Author Details

David N Cooper
Institute of Medical Genetics, Cardiff University
1983
533
89
PMIDPaper TitleJournal TitlePublished Year
36344696Profiling human pathogenic repeat expansion regions by synergistic and multi-level impacts on molecular connections.Hum Genet2023
36352240Identifying shared genetic factors underlying epilepsy and congenital heart disease in Europeans.Hum Genet2023
36344696Profiling human pathogenic repeat expansion regions by synergistic and multi-level impacts on molecular connections.Hum Genet2023
38037155Genome-wide prediction of pathogenic gain- and loss-of-function variants from ensemble learning of a diverse feature set.Genome Med2023
37931111Genome-wide detection of human intronic AG-gain variants located between splicing branchpoints and canonical splice acceptor sites.Proc Natl Acad Sci U S A2023
37579999Inferring the genetic relationship between brain imaging-derived phenotypes and risk of complex diseases by Mendelian randomization and genome-wide colocalization.Neuroimage2023
37568214Frameshift coding sequence variants in the LPL gene: identification of two novel events and exploration of the genotype-phenotype relationship for variants reported to date.Lipids Health Dis2023
37550668The East Asian-specific LPL p.Ala288Thr (c.862Gâ¿¿>â¿¿A) missense variant exerts a mild effect on protein function.Lipids Health Dis2023
36517351The PRSS3P2 and TRY7 deletion copy number variant modifies risk for chronic pancreatitis.Pancreatology2023
37080976Identifying high-impact variants and genes in exomes of Ashkenazi Jewish inflammatory bowel disease patients.Nat Commun2023
37270400Identification of protease-sensitive but not misfolding PNLIP variants in familial and hereditary pancreatitis.Pancreatology2023
37268856Eighty million years of rapid evolution of the primate Y chromosome.Nat Ecol Evol2023
37262187Comparative genomics reveals the hybrid origin of a macaque group.Sci Adv2023
37262186Lineage-specific accelerated sequences underlying primate evolution.Sci Adv2023
37262173Phylogenomic analyses provide insights into primate evolution.Science2023
36625089Large-Scale Chromosomal Changes Lead to Genome-Level Expression Alterations, Environmental Adaptation, and Speciation in the Gayal (Bos frontalis).Mol Biol Evol2023
37494289Integrative Omics Reveals Rapidly Evolving Regulatory Sequences Driving Primate Brain Evolution.Mol Biol Evol2023
37550668The East Asian-specific LPL p.Ala288Thr (c.862Gâ¿¿>â¿¿A) missense variant exerts a mild effect on protein function.Lipids Health Dis2023
37579999Inferring the genetic relationship between brain imaging-derived phenotypes and risk of complex diseases by Mendelian randomization and genome-wide colocalization.Neuroimage2023
37931111Genome-wide detection of human intronic AG-gain variants located between splicing branchpoints and canonical splice acceptor sites.Proc Natl Acad Sci U S A2023
37568214Frameshift coding sequence variants in the LPL gene: identification of two novel events and exploration of the genotype-phenotype relationship for variants reported to date.Lipids Health Dis2023
38037155Genome-wide prediction of pathogenic gain- and loss-of-function variants from ensemble learning of a diverse feature set.Genome Med2023
37494289Integrative Omics Reveals Rapidly Evolving Regulatory Sequences Driving Primate Brain Evolution.Mol Biol Evol2023
37080976Identifying high-impact variants and genes in exomes of Ashkenazi Jewish inflammatory bowel disease patients.Nat Commun2023
37270400Identification of protease-sensitive but not misfolding PNLIP variants in familial and hereditary pancreatitis.Pancreatology2023
37268856Eighty million years of rapid evolution of the primate Y chromosome.Nat Ecol Evol2023
37262187Comparative genomics reveals the hybrid origin of a macaque group.Sci Adv2023
37262186Lineage-specific accelerated sequences underlying primate evolution.Sci Adv2023
37262173Phylogenomic analyses provide insights into primate evolution.Science2023
36625089Large-Scale Chromosomal Changes Lead to Genome-Level Expression Alterations, Environmental Adaptation, and Speciation in the Gayal (Bos frontalis).Mol Biol Evol2023
36517351The PRSS3P2 and TRY7 deletion copy number variant modifies risk for chronic pancreatitis.Pancreatology2023
36352240Identifying shared genetic factors underlying epilepsy and congenital heart disease in Europeans.Hum Genet2023
33963039NGS mismapping confounds the clinical interpretation of the <i>PRSS1</i> p.Ala16Val (c.47C&gt;T) variant in chronic pancreatitis.Gut2022
35974416Expanding ACMG variant classification guidelines into a general framework.Hum Genomics2022
36306325Genome-wide detection of human variants that disrupt intronic branchpoints.Proc Natl Acad Sci U S A2022
36042491Genetic evidence for a causal relationship between type 2 diabetes and peripheral artery disease in both Europeans and East Asians.BMC Med2022
35906703X-CAP improves pathogenicity prediction of stopgain variants.Genome Med2022
36161902Functional genomics analysis reveals the evolutionary adaptation and demographic history of pygmy lorises.Proc Natl Acad Sci U S A2022
35398595The CEL-HYB1 Hybrid Allele Promotes Digestive Enzyme Misfolding and Pancreatitis in Mice.Cell Mol Gastroenterol Hepatol2022
33963039NGS mismapping confounds the clinical interpretation of the <i>PRSS1</i> p.Ala16Val (c.47C&gt;T) variant in chronic pancreatitis.Gut2022
33524595No Convincing Evidence to Support a Bimodal Age of Onset in Idiopathic Chronic Pancreatitis.Clin Gastroenterol Hepatol2022
34928431Challenges in the diagnosis of neurofibromatosis type 1 (NF1) in young children facilitated by means of revised diagnostic criteria including genetic testing for pathogenic NF1 gene variants.Hum Genet2022
34923708Functionally deficient TRPV6 variants contribute to hereditary and familial chronic pancreatitis.Hum Mutat2022
34918412Distinct sequence features underlie microdeletions and gross deletions in the human genome.Hum Mutat2022
35089416Trypsinogen (PRSS1 and PRSS2) gene dosage correlates with pancreatitis risk across genetic and transgenic studies: a systematic review and re-analysis.Hum Genet2022
35120630Analysis of missense variants in the human genome reveals widespread gene-specific clustering and improves prediction of pathogenicity.Am J Hum Genet2022
35398595The CEL-HYB1 Hybrid Allele Promotes Digestive Enzyme Misfolding and Pancreatitis in Mice.Cell Mol Gastroenterol Hepatol2022
36042491Genetic evidence for a causal relationship between type 2 diabetes and peripheral artery disease in both Europeans and East Asians.BMC Med2022
35906703X-CAP improves pathogenicity prediction of stopgain variants.Genome Med2022
36306325Genome-wide detection of human variants that disrupt intronic branchpoints.Proc Natl Acad Sci U S A2022
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Collaborators

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Co-authored papers 11
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Co-authored papers 10
Yuedong Yang
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Yaoqi Zhou
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Wellcome Sanger Institute
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Vikas Pejaver
Institute for Genomic Health, Icahn School of Medicine at Mount Sinai
Co-authored papers 4
Biao Li
The Buck Institute for Research on Aging
Co-authored papers 4
Garry R Cutting
Johns Hopkins University School of Medicine
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Jishnu Das
Co-authored papers 4
Robert M Stephens
Frederick National Laboratory for Cancer Research, Inc.
Co-authored papers 4
Ian N M Day
Co-authored papers 4
John A Phillips
Vanderbilt University Medical Center
Co-authored papers 4
Giriraj R Chandak
Co-authored papers 4
John A Tainer
The University of Texas MD Anderson Cancer Center
Co-authored papers 4
Release 1.2