Showing 1 - 20 results of 44 for search 'David N. Cooper', query time: 0.06s Refine Results
  1. 1
    X-CAP improves pathogenicity prediction of stopgain variants

    X-CAP improves pathogenicity prediction of stopgain variants by Ruchir Rastogi, Peter D. Stenson, David N. Cooper, Gill Bejerano

    Published 2022-07-01
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  2. 2
    Mutations Causing Complex Disease May under Certain Circumstances Be Protective in an Epidemiological Sense.

    Mutations Causing Complex Disease May under Certain Circumstances Be Protective in an Epidemiological Sense. by Sabine Siegert, Andreas Wolf, David N Cooper, Michael Krawczak, Michael Nothnagel

    Published 2015-01-01
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  3. 3
    Atypical <i>NF1</i> Microdeletions: Challenges and Opportunities for Genotype/Phenotype Correlations in Patients with Large <i>NF1</i> Deletions

    Atypical <i>NF1</i> Microdeletions: Challenges and Opportunities for Genotype/Phenotype Correlations in Patients with Large <i>NF1</i> Deletions by Hildegard Kehrer-Sawatzki, Ute Wahlländer, David N. Cooper, Victor-Felix Mautner

    Published 2021-10-01
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  4. 4
    The NF1 somatic mutational landscape in sporadic human cancers

    The NF1 somatic mutational landscape in sporadic human cancers by Charlotte Philpott, Hannah Tovell, Ian M. Frayling, David N. Cooper, Meena Upadhyaya

    Published 2017-06-01
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  5. 5
    A conservative assessment of the major genetic causes of idiopathic chronic pancreatitis: data from a comprehensive analysis of PRSS1, SPINK1, CTRC and CFTR genes in 253 young French patients.

    A conservative assessment of the major genetic causes of idiopathic chronic pancreatitis: data from a comprehensive analysis of PRSS1, SPINK1, CTRC and CFTR genes in 253 young Fren... by Emmanuelle Masson, Jian-Min Chen, Marie-Pierre Audrézet, David N Cooper, Claude Férec

    Published 2013-01-01
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  6. 6
    Restoration of the normal splicing pattern of the PLP1 gene by means of an antisense oligonucleotide directed against an exonic mutation.

    Restoration of the normal splicing pattern of the PLP1 gene by means of an antisense oligonucleotide directed against an exonic mutation. by Stefano Regis, Fabio Corsolini, Serena Grossi, Barbara Tappino, David N Cooper, Mirella Filocamo

    Published 2013-01-01
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  7. 7
    Prioritization of schizophrenia risk genes from GWAS results by integrating multi-omics data

    Prioritization of schizophrenia risk genes from GWAS results by integrating multi-omics data by Dan He, Cong Fan, Mengling Qi, Yuedong Yang, David N. Cooper, Huiying Zhao

    Published 2021-03-01
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  8. 8
    Chronic Pancreatitis: The True Pathogenic Culprit within the <i>SPINK1</i> N34S-Containing Haplotype Is No Longer at Large

    Chronic Pancreatitis: The True Pathogenic Culprit within the <i>SPINK1</i> N34S-Containing Haplotype Is No Longer at Large by Na Pu, Emmanuelle Masson, David N. Cooper, Emmanuelle Génin, Claude Férec, Jian-Min Chen

    Published 2021-10-01
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  9. 9
    Inferring the genetic relationship between brain imaging-derived phenotypes and risk of complex diseases by Mendelian randomization and genome-wide colocalization

    Inferring the genetic relationship between brain imaging-derived phenotypes and risk of complex diseases by Mendelian randomization and genome-wide colocalization by Siying Lin, Haoyang Zhang, Mengling Qi, David N. Cooper, Yuedong Yang, Yuanhao Yang, Huiying Zhao

    Published 2023-10-01
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  10. 10
    Role of the Common <i>PRSS1-PRSS2</i> Haplotype in Alcoholic and Non-Alcoholic Chronic Pancreatitis: Meta- and Re-Analyses

    Role of the Common <i>PRSS1-PRSS2</i> Haplotype in Alcoholic and Non-Alcoholic Chronic Pancreatitis: Meta- and Re-Analyses by Anthony F. Herzig, Emmanuelle Génin, David N. Cooper, Emmanuelle Masson, Claude Férec, Jian-Min Chen

    Published 2020-11-01
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  11. 11
    Scale and Scope of Gene-Alcohol Interactions in Chronic Pancreatitis: A Systematic Review

    Scale and Scope of Gene-Alcohol Interactions in Chronic Pancreatitis: A Systematic Review by Jian-Min Chen, Anthony F. Herzig, Emmanuelle Génin, Emmanuelle Masson, David N. Cooper, Claude Férec

    Published 2021-03-01
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  12. 12
    Genetic evidence for a causal relationship between type 2 diabetes and peripheral artery disease in both Europeans and East Asians

    Genetic evidence for a causal relationship between type 2 diabetes and peripheral artery disease in both Europeans and East Asians by Xuehao Xiu, Haoyang Zhang, Angli Xue, David N. Cooper, Li Yan, Yuedong Yang, Yuanhao Yang, Huiying Zhao

    Published 2022-08-01
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  13. 13
    Meta-analysis of 46,000 germline de novo mutations linked to human inherited disease

    Meta-analysis of 46,000 germline de novo mutations linked to human inherited disease by Mónica Lopes-Marques, Matthew Mort, João Carneiro, António Azevedo, Andreia P. Amaro, David N. Cooper, Luísa Azevedo

    Published 2024-02-01
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  14. 14
    An integrative approach to predicting the functional effects of small indels in non-coding regions of the human genome

    An integrative approach to predicting the functional effects of small indels in non-coding regions of the human genome by Michael Ferlaino, Mark F. Rogers, Hashem A. Shihab, Matthew Mort, David N. Cooper, Tom R. Gaunt, Colin Campbell

    Published 2017-10-01
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  15. 15
    Deciphering next-generation pharmacogenomics: an information technology perspective

    Deciphering next-generation pharmacogenomics: an information technology perspective by George Potamias, Kleanthi Lakiotaki, Theodora Katsila, Ming Ta Michael Lee, Stavros Topouzis, David N. Cooper, George P. Patrinos

    Published 2014-01-01
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  16. 16
    Application of Economic Evaluation to Assess Feasibility for Reimbursement of Genomic Testing as Part of Personalized Medicine Interventions

    Application of Economic Evaluation to Assess Feasibility for Reimbursement of Genomic Testing as Part of Personalized Medicine Interventions by Stavros Simeonidis, Stefania Koutsilieri, Athanassios Vozikis, David N. Cooper, Christina Mitropoulou, George P. Patrinos, George P. Patrinos, George P. Patrinos

    Published 2019-08-01
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  17. 17
    In silico prioritization and further functional characterization of SPINK1 intronic variants

    In silico prioritization and further functional characterization of SPINK1 intronic variants by Wen-Bin Zou, Hao Wu, Arnaud Boulling, David N. Cooper, Zhao-Shen Li, Zhuan Liao, Jian-Min Chen, Claude Férec

    Published 2017-05-01
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  18. 18
    The Loss and Gain of Functional Amino Acid Residues Is a Common Mechanism Causing Human Inherited Disease.

    The Loss and Gain of Functional Amino Acid Residues Is a Common Mechanism Causing Human Inherited Disease. by Jose Lugo-Martinez, Vikas Pejaver, Kymberleigh A Pagel, Shantanu Jain, Matthew Mort, David N Cooper, Sean D Mooney, Predrag Radivojac

    Published 2016-08-01
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  19. 19
    Genome-wide prediction of pathogenic gain- and loss-of-function variants from ensemble learning of a diverse feature set

    Genome-wide prediction of pathogenic gain- and loss-of-function variants from ensemble learning of a diverse feature set by David Stein, Meltem Ece Kars, Yiming Wu, Çiğdem Sevim Bayrak, Peter D. Stenson, David N. Cooper, Avner Schlessinger, Yuval Itan

    Published 2023-11-01
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  20. 20
    The East Asian-specific LPL p.Ala288Thr (c.862G > A) missense variant exerts a mild effect on protein function

    The East Asian-specific LPL p.Ala288Thr (c.862G > A) missense variant exerts a mild effect on protein function by Yuepeng Hu, Guofu Zhang, Qi Yang, Na Pu, Kaiwei Li, Baiqiang Li, David N. Cooper, Zhihui Tong, Weiqin Li, Jian-Min Chen

    Published 2023-08-01
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