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Cooper, David N. BIBSYS National and University Library in Zagreb ISNI NUKAT Center of Warsaw University Library

David N. Cooper researcher Wikidata

Cooper, David N., 1957- German National Library National Library of the Czech Republic National Library of the Netherlands

Cooper, David N. (David Neil), 1957- Library of Congress/NACO National Library of Catalonia

Cooper, David Neil, 1957-.... National Library of France Sudoc [ABES], France

VIAF ID: 113378217 (Personal)

Permalink: http://viaf.org/viaf/113378217

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Title Sources
Copy number variation and disease National Library of Catalonia
Encyclopedia of the human genome BIBSYS Library of Congress/NACO Sudoc [ABES], France National Library of Catalonia National Library of the Netherlands National Library of France National and University Library in Zagreb NUKAT Center of Warsaw University Library
Gene therapy BIBSYS National Library of Catalonia Wikidata
Handbook of human molecular evolution BIBSYS Library of Congress/NACO Sudoc [ABES], France National Library of Catalonia National Library of the Netherlands National Library of France NUKAT Center of Warsaw University Library
Human gene mutation BIBSYS National Library of Catalonia Wikidata National Library of the Netherlands Library of Congress/NACO Sudoc [ABES], France
Internet, http://www.loc.gov, 13-10-2004 Sudoc [ABES], France
Loss of exon identity is a common mechanism of human inherited disease. Wikidata
A massively parallel pipeline to clone DNA variants and examine molecular phenotypes of human disease mutations Wikidata
Mechanisms of base substitution mutagenesis in cancer genomes. Wikidata
Microdeletions and microinsertions causing human genetic disease: common mechanisms of mutagenesis and the role of local DNA sequence complexity. Wikidata
Molecular characterisation of the pericentric inversion that distinguishes human chromosome 5 from the homologous chimpanzee chromosome. Wikidata
Molecular characterization of 22 novel UDP-N-acetylglucosamine-1-phosphate transferase alpha- and beta-subunit Wikidata
Molecular genetic analysis of a novel form of haemophilia A characterized by the variable expression of factor VIII. Wikidata
The molecular genetics of haemophilia A: screening for point mutations in the factor VIII gene using the restriction enzyme TaqI. Wikidata
The molecular genetics of haemostasis and its inherited disorders, 1993: German National Library National Library of Catalonia Wikidata Library of Congress/NACO National Library of the Netherlands
MspI RFLP in the human heparin cofactor II (HCF2) gene. Wikidata
MuPIT interactive: webserver for mapping variant positions to annotated, interactive 3D structures. Wikidata
Mutations Causing Complex Disease May under Certain Circumstances Be Protective in an Epidemiological Sense. Wikidata
MutationTaster2: mutation prediction for the deep-sequencing age. Wikidata
Neighboring-nucleotide effects on the rates of germ-line single-base-pair substitution in human genes. Wikidata
Neurofibromatosis type 1-associated tumours: their somatic mutational spectrum and pathogenesis. Wikidata
Neurofibromatosis type 1 : molecular and cellular biology Library of Congress/NACO Sudoc [ABES], France Wikidata
A new paradigm emerges from the study of de novo mutations in the context of neurodevelopmental disease. Wikidata
Non-B DNA-forming sequences and WRN deficiency independently increase the frequency of base substitution in human cells. Wikidata
A novel human multi-locus DNA family detected by pJU78 (DF31). Wikidata
De novo splice site mutation in the antithrombin III (AT3) gene causing recurrent venous thrombosis: demonstration of exon skipping by ectopic transcript analysis. Wikidata
Origin of the prevalentSFTPBindel g.1549C > GAA (121ins2) mutation causing surfactant protein B (SP-B) deficiency Wikidata
p53 mutations, benzo[a]pyrene and lung cancer. Wikidata
The pattern of DNA methylation in the delta-crystallin genes in transdifferentiating neural retina cultures. Wikidata
Patterns and mutational signatures of tandem base substitutions causing human inherited disease. Wikidata
Polymorphic micro-inversions contribute to the genomic variability of humans and chimpanzees. Wikidata
Population differences in the frequency of the factor V Leiden variant among people with clinically symptomatic protein C deficiency. Wikidata
Population-specific differences in gene conversion patterns between human SUZ12 and SUZ12P are indicative of the dynamic nature of interparalog gene conversion. Wikidata
Precursor-product relationship between vitellogenin and the yolk proteins as derived from the complete sequence of a Xenopus vitellogenin gene. Wikidata
Predicting the functional, molecular, and phenotypic consequences of amino acid substitutions using hidden Markov models Wikidata
Prediction of functional regulatory SNPs in monogenic and complex disease. Wikidata
Prenatal exclusion of haemophilia A and carrier testing by direct detection of a disease lesion. Wikidata
A probabilistic model to predict clinical phenotypic traits from genome sequencing Wikidata
Promoter shuffling has occurred during the evolution of the vertebrate growth hormone gene. Wikidata
Proposed guidelines for papers describing DNA polymorphism-disease associations. Wikidata
Protein C London 1: recurrent mutation at Arg 169 (CGG----TGG) in the protein C gene causing thrombosis. Wikidata
Proteins linked to autosomal dominant and autosomal recessive disorders harbor characteristic rare missense mutation distribution patterns. Wikidata
Ranking non-synonymous single nucleotide polymorphisms based on disease concepts Wikidata
Rapid detection of deletions in the Duchenne muscular dystrophy gene by PCR amplification of deletion-prone exon sequences. Wikidata
regSNPs: a strategy for prioritizing regulatory single nucleotide substitutions. Wikidata
Research and clinical applications of cancer genome sequencing. Wikidata
Restoration of the normal splicing pattern of the PLP1 gene by means of an antisense oligonucleotide directed against an exonic mutation Wikidata
Revealing the human mutome. Wikidata
Screening in silico predicted remotely acting NF1 gene regulatory elements for mutations in patients with neurofibromatosis type 1. Wikidata
Searching for potential microRNA-binding site mutations amongst known disease-associated 3' UTR variants. Wikidata
Single base-pair substitutions in exon-intron junctions of human genes: nature, distribution, and consequences for mRNA splicing. Wikidata
Single base-pair substitutions in pathology and evolution: two sides to the same coin. Wikidata
Small deletions within the RHD coding sequence: a report of two novel mutational events and a survey of the underlying pathophysiologic mechanisms. Wikidata
The somatic autosomal mutation matrix in cancer genomes. Wikidata
Special 50th anniversary issue on x-inactivation German National Library
Structural divergence between the human and chimpanzee genomes. Wikidata
Structure-based kernels for the prediction of catalytic residues and their involvement in human inherited disease. Wikidata
SVA retrotransposon insertion-associated deletion represents a novel mutational mechanism underlying large genomic copy number changes with non-recurrent breakpoints. Wikidata
A systematic analysis of disease-associated variants in the 3' regulatory regions of human protein-coding genes II: the importance of mRNA secondary structure in assessing the functionality of 3' UTR variants. Wikidata
Technological advances in DNA sequence enrichment and sequencing for germline genetic diagnosis. Wikidata
Tissue-specific differences in the proportion of mosaic large NF1 deletions are suggestive of a selective growth advantage of hematopoietic del(+/-) stem cells. Wikidata
Transient hypermutability, chromothripsis and replication-based mechanisms in the generation of concurrent clustered mutations. Wikidata
Translocation and gross deletion breakpoints in human inherited disease and cancer II: Potential involvement of repetitive sequence elements in secondary structure formation between DNA ends. Wikidata
Type 2 NF1 deletions are highly unusual by virtue of the absence of nonallelic homologous recombination hotspots and an apparent preference for female mitotic recombination Wikidata
Understanding the recent evolution of the human genome: insights from human-chimpanzee genome comparisons. Wikidata
Univ. of Wales College of Medicine, Dept. of Med. Genetics Website, Oct. 22, 2003: Library of Congress/NACO
Unmethylated domains in vertebrate DNA. Wikidata
Using exome data to identify malignant hyperthermia susceptibility mutations. Wikidata
Utilization of a cryptic noncanonical donor splice site in the KRT14 gene causes a mild form of epidermolysis bullosa simplex. Wikidata
Variation of site-specific methylation patterns in the factor VIII (F8C) gene in human sperm DNA. Wikidata
Venous thrombosis : from genes to clinical medicine : the molecular genetics of an archetypal multigene disorder Sudoc [ABES], France National Library of the Netherlands
Where genotype is not predictive of phenotype: towards an understanding of the molecular basis of reduced penetrance in human inherited disease. Wikidata
The yak genome and adaptation to life at high altitude. Wikidata

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