about
Human genetics and genomics a decade after the release of the draft sequence of the human genomeNon-coding RNA ANRIL and the number of plexiform neurofibromas in patients with NF1 microdeletionsEvolutionary and Biomedical Insights from the Rhesus Macaque GenomeThe Genome of Black Cottonwood, Populus trichocarpa (Torr. & Gray)Insights into hominid evolution from the gorilla genome sequenceGenome sequence of the Brown Norway rat yields insights into mammalian evolutionIdentification and characterization of 15 novel GALC gene mutations causing Krabbe diseaseSplicing factor SFRS1 recognizes a functionally diverse landscape of RNA transcriptsEvolutionary conservation and selection of human disease gene orthologs in the rat and mouse genomesTrans-species polymorphism in humans and the great apes is generally maintained by balancing selection that modulates the host immune responseHuman type I hair keratin pseudogene phihHaA has functional orthologs in the chimpanzee and gorilla: evidence for recent inactivation of the human gene after the Pan-Homo divergenceMicroattribution and nanopublication as means to incentivize the placement of human genome variation data into the public domainLocalization of a human heat-shock HSP 70 gene sequence to chromosome 6 and detection of two other loci by somatic-cell hybrid and restriction fragment length polymorphism analysisGuanine holes are prominent targets for mutation in cancer and inherited disease'Sifting the significance from the data' - the impact of high-throughput genomic technologies on human genetics and health careGene synteny comparisons between different vertebrates provide new insights into breakage and fusion events during mammalian karyotype evolutionThe mutational spectrum of single base-pair substitutions in mRNA splice junctions of human genes: causes and consequencesA 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 patientsMutations Causing Complex Disease May under Certain Circumstances Be Protective in an Epidemiological Sense.Automated inference of molecular mechanisms of disease from amino acid substitutions.Meiotic recombination favors the spreading of deleterious mutations in human populations.regSNPs-splicing: a tool for prioritizing synonymous single-nucleotide substitution.DDIG-in: discriminating between disease-associated and neutral non-frameshifting micro-indelsMuPIT interactive: webserver for mapping variant positions to annotated, interactive 3D structures.Gene conversion causing human inherited disease: evidence for involvement of non-B-DNA-forming sequences and recombination-promoting motifs in DNA breakage and repair.Using exome data to identify malignant hyperthermia susceptibility mutations.Restoration of the normal splicing pattern of the PLP1 gene by means of an antisense oligonucleotide directed against an exonic mutationBreakpoint analysis of the pericentric inversion distinguishing human chromosome 4 from the homologous chromosome in the chimpanzee (Pan troglodytes).Impact of human pathogenic micro-insertions and micro-deletions on post-transcriptional regulation.In silico prioritization and further functional characterization of SPINK1 intronic variantsPopulation differences in the frequency of the factor V Leiden variant among people with clinically symptomatic protein C deficiency.Is the NIH policy for sharing GWAS data running the risk of being counterproductive?Complete ascertainment of intragenic copy number mutations (CNMs) in the CFTR gene and its implications for CNM formation at other autosomal lociThe NF1 somatic mutational landscape in sporadic human cancers.Independent intrachromosomal recombination events underlie the pericentric inversions of chimpanzee and gorilla chromosomes homologous to human chromosome 16.Deciphering next-generation pharmacogenomics: an information technology perspective.Estimating the efficacy and efficiency of cascade genetic screening.Structure-based kernels for the prediction of catalytic residues and their involvement in human inherited disease.Disease-causing mutations in the human genome.Gene discovery in familial cancer syndromes by exome sequencing: prospects for the elucidation of familial colorectal cancer type X.
P50
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P50
description
genetics researcher
@en
wetenschapper
@nl
name
David Cooper
@fr
David N. Cooper
@en
David N. Cooper
@es
David N. Cooper
@nl
David N. Cooper
@sl
type
label
David Cooper
@fr
David N. Cooper
@en
David N. Cooper
@es
David N. Cooper
@nl
David N. Cooper
@sl
prefLabel
David Cooper
@fr
David N. Cooper
@en
David N. Cooper
@es
David N. Cooper
@nl
David N. Cooper
@sl
P1006
P214
P244
P1006
P1053
H-4384-2011
P106
P1153
25932904900
P1580
P21
P213
0000 0001 1084 3675
P214
P244
P2456
P31
P3829
P496
0000-0002-8943-8484
P569
1957-01-01T00:00:00Z
P734
P735
P7859
lccn-n93800950