Showing 1 - 20 results of 54 for search 'David N. Cooper', query time: 0.38s Refine Results
  1. 1
    Mechanisms of Base Substitution Mutagenesis in Cancer Genomes
    by Albino Bacolla, David N. Cooper, Karen M. Vasquez
    Published 2014-03-01
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  2. 2
    Gene Conversion in Human Genetic Disease
    by Jian-Min Chen, David N. Cooper, Claude Férec
    Published 2010-12-01
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  3. 3
    LINE-1 Endonuclease-Dependent Retrotranspositional Events Causing Human Genetic Disease: Mutation Detection Bias and Multiple Mechanisms of Target Gene Disruption
    by Jian-Min Chen, Claude Férec, David N. Cooper
    Published 2006-01-01
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  4. 4
    X-CAP improves pathogenicity prediction of stopgain variants
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  5. 5
    Mutations Causing Complex Disease May under Certain Circumstances Be Protective in an Epidemiological Sense.
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  6. 6
    Atypical <i>NF1</i> Microdeletions: Challenges and Opportunities for Genotype/Phenotype Correlations in Patients with Large <i>NF1</i> Deletions
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  7. 7
    The NF1 somatic mutational landscape in sporadic human cancers
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  8. 8
    Prioritization of schizophrenia risk genes from GWAS results by integrating multi-omics data
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  9. 9
    Restoration of the normal splicing pattern of the PLP1 gene by means of an antisense oligonucleotide directed against an exonic mutation.
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  10. 10
    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.
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  11. 11
    Chronic Pancreatitis: The True Pathogenic Culprit within the <i>SPINK1</i> N34S-Containing Haplotype Is No Longer at Large
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  12. 12
    Inferring the genetic relationship between brain imaging-derived phenotypes and risk of complex diseases by Mendelian randomization and genome-wide colocalization
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  13. 13
    Scale and Scope of Gene-Alcohol Interactions in Chronic Pancreatitis: A Systematic Review
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  14. 14
    Role of the Common <i>PRSS1-PRSS2</i> Haplotype in Alcoholic and Non-Alcoholic Chronic Pancreatitis: Meta- and Re-Analyses
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  15. 15
    Analysis of the Impact of Known SPINK1 Missense Variants on Pre-mRNA Splicing and/or mRNA Stability in a Full-Length Gene Assay
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  16. 16
    The landscape of rare genetic variation associated with inflammatory bowel disease and Parkinson’s disease comorbidity
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  17. 17
    Genetic evidence for a causal relationship between type 2 diabetes and peripheral artery disease in both Europeans and East Asians
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  18. 18
    Meta-analysis of 46,000 germline de novo mutations linked to human inherited disease
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  19. 19
    An integrative approach to predicting the functional effects of small indels in non-coding regions of the human genome
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  20. 20
    Deciphering next-generation pharmacogenomics: an information technology perspective
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