Zobrazuji výsledky 1 - 20 z 42 pro vyhledávání 'David N. Cooper', doba hledání: 0,07 s. Upřesnit hledání
  1. 1
    X-CAP improves pathogenicity prediction of stopgain variants

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

    Vydáno 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. Autor Sabine Siegert, Andreas Wolf, David N Cooper, Michael Krawczak, Michael Nothnagel

    Vydáno 2015-01-01
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  3. 3
    The NF1 somatic mutational landscape in sporadic human cancers

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

    Vydáno 2017-06-01
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  4. 4
    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... Autor Emmanuelle Masson, Jian-Min Chen, Marie-Pierre Audrézet, David N Cooper, Claude Férec

    Vydáno 2013-01-01
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  5. 5
    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. Autor Stefano Regis, Fabio Corsolini, Serena Grossi, Barbara Tappino, David N Cooper, Mirella Filocamo

    Vydáno 2013-01-01
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  6. 6
    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 Autor Dan He, Cong Fan, Mengling Qi, Yuedong Yang, David N. Cooper, Huiying Zhao

    Vydáno 2021-03-01
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  7. 7
    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 Autor Siying Lin, Haoyang Zhang, Mengling Qi, David N. Cooper, Yuedong Yang, Yuanhao Yang, Huiying Zhao

    Vydáno 2023-10-01
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  8. 8
    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 Autor Xuehao Xiu, Haoyang Zhang, Angli Xue, David N. Cooper, Li Yan, Yuedong Yang, Yuanhao Yang, Huiying Zhao

    Vydáno 2022-08-01
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  9. 9
    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 Autor Mónica Lopes-Marques, Matthew Mort, João Carneiro, António Azevedo, Andreia P. Amaro, David N. Cooper, Luísa Azevedo

    Vydáno 2024-02-01
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  10. 10
    The landscape of rare genetic variation associated with inflammatory bowel disease and Parkinson’s disease comorbidity

    The landscape of rare genetic variation associated with inflammatory bowel disease and Parkinson’s disease comorbidity Autor Meltem Ece Kars, Yiming Wu, Peter D. Stenson, David N. Cooper, Johan Burisch, Inga Peter, Yuval Itan

    Vydáno 2024-05-01
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  11. 11
    Deciphering next-generation pharmacogenomics: an information technology perspective

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

    Vydáno 2014-01-01
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  12. 12
    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 Autor Stavros Simeonidis, Stefania Koutsilieri, Athanassios Vozikis, David N. Cooper, Christina Mitropoulou, George P. Patrinos, George P. Patrinos, George P. Patrinos

    Vydáno 2019-08-01
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  13. 13
    In silico prioritization and further functional characterization of SPINK1 intronic variants

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

    Vydáno 2017-05-01
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  14. 14
    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 Autor David Stein, Meltem Ece Kars, Yiming Wu, Çiğdem Sevim Bayrak, Peter D. Stenson, David N. Cooper, Avner Schlessinger, Yuval Itan

    Vydáno 2023-11-01
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  15. 15
    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 Autor Yuepeng Hu, Guofu Zhang, Qi Yang, Na Pu, Kaiwei Li, Baiqiang Li, David N. Cooper, Zhihui Tong, Weiqin Li, Jian-Min Chen

    Vydáno 2023-08-01
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  16. 16
    The sequencing and interpretation of the genome obtained from a Serbian individual.

    The sequencing and interpretation of the genome obtained from a Serbian individual. Autor Wazim Mohammed Ismail, Kymberleigh A Pagel, Vikas Pejaver, Simo V Zhang, Sofia Casasa, Matthew Mort, David N Cooper, Matthew W Hahn, Predrag Radivojac

    Vydáno 2018-01-01
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  17. 17
    Pathogenicity and functional impact of non-frameshifting insertion/deletion variation in the human genome.

    Pathogenicity and functional impact of non-frameshifting insertion/deletion variation in the human genome. Autor Kymberleigh A Pagel, Danny Antaki, AoJie Lian, Matthew Mort, David N Cooper, Jonathan Sebat, Lilia M Iakoucheva, Sean D Mooney, Predrag Radivojac

    Vydáno 2019-06-01
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  18. 18
    Compound Heterozygosity for Novel Truncating Variants in the LMOD3 Gene as the Cause of Polyhydramnios in Two Successive Fetuses

    Compound Heterozygosity for Novel Truncating Variants in the LMOD3 Gene as the Cause of Polyhydramnios in Two Successive Fetuses Autor Ye Wang, Caixia Zhu, Liu Du, Qiaoer Li, Mei-Fang Lin, Claude Férec, Claude Férec, David N. Cooper, Jian-Min Chen, Yi Zhou

    Vydáno 2019-09-01
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  19. 19
    Frameshift coding sequence variants in the LPL gene: identification of two novel events and exploration of the genotype–phenotype relationship for variants reported to date

    Frameshift coding sequence variants in the LPL gene: identification of two novel events and exploration of the genotype–phenotype relationship for variants reported to date Autor Guofu Zhang, Yuepeng Hu, Qi Yang, Na Pu, Gang Li, Jingzhu Zhang, Zhihui Tong, Emmanuelle Masson, David N. Cooper, Jian-Min Chen, Weiqin Li

    Vydáno 2023-08-01
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  20. 20
    Expanding ACMG variant classification guidelines into a general framework

    Expanding ACMG variant classification guidelines into a general framework Autor Emmanuelle Masson, Wen-Bin Zou, Emmanuelle Génin, David N. Cooper, Gerald Le Gac, Yann Fichou, Na Pu, Vinciane Rebours, Claude Férec, Zhuan Liao, Jian-Min Chen

    Vydáno 2022-08-01
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