David N Cooper

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David N



Publications in SciGraph latest 50 shown

  • 2019-01 Ultra-deep amplicon sequencing indicates absence of low-grade mosaicism with normal cells in patients with type-1 NF1 deletions in HUMAN GENETICS
  • 2018-12 Identification of compound heterozygous variants in the noncoding RNU4ATAC gene in a Chinese family with two successive foetuses with severe microcephaly in HUMAN GENOMICS
  • 2018-12 Mis-splicing of the GALNS gene resulting from deep intronic mutations as a cause of Morquio a disease in BMC MEDICAL GENETICS
  • 2018-07 Phenotypic and genotypic overlap between mosaic NF2 and schwannomatosis in patients with multiple non-intradermal schwannomas in HUMAN GENETICS
  • 2018-07 Extreme clustering of type-1 NF1 deletion breakpoints co-locating with G-quadruplex forming sequences in HUMAN GENETICS
  • 2018-05 Pronounced maternal parent-of-origin bias for type-1 NF1 microdeletions in HUMAN GENETICS
  • 2017-12 The NF1 somatic mutational landscape in sporadic human cancers in HUMAN GENOMICS
  • 2017-12 iRegNet3D: three-dimensional integrated regulatory network for the genomic analysis of coding and non-coding disease mutations in GENOME BIOLOGY
  • 2017-12 An integrative approach to predicting the functional effects of small indels in non-coding regions of the human genome in BMC BIOINFORMATICS
  • 2017-12 In silico prioritization and further functional characterization of SPINK1 intronic variants in HUMAN GENOMICS
  • 2017-09 regSNPs-splicing: a tool for prioritizing synonymous single-nucleotide substitution in HUMAN GENETICS
  • 2017-06 The Human Gene Mutation Database: towards a comprehensive repository of inherited mutation data for medical research, genetic diagnosis and next-generation sequencing studies in HUMAN GENETICS
  • 2017-04 Emerging genotype–phenotype relationships in patients with large NF1 deletions in HUMAN GENETICS
  • 2017-02 The molecular pathogenesis of schwannomatosis, a paradigm for the co-involvement of multiple tumour suppressor genes in tumorigenesis in HUMAN GENETICS
  • 2017-01 Improving the in silico assessment of pathogenicity for compensated variants in EUROPEAN JOURNAL OF HUMAN GENETICS
  • 2017 A Short History of Research into Chronic Pancreatitis in CHRONIC PANCREATITIS
  • 2017 Pathogenetics of Chronic Pancreatitis in CHRONIC PANCREATITIS
  • 2016-12 M-CAP eliminates a majority of variants of uncertain significance in clinical exomes at high sensitivity in NATURE GENETICS
  • 2016-02 The mutation significance cutoff: gene-level thresholds for variant predictions in NATURE METHODS
  • 2015-12 Intra-individual plasticity of the TAZ gene leading to different heritable mutations in siblings with Barth syndrome in EUROPEAN JOURNAL OF HUMAN GENETICS
  • 2015-12 Trans-species polymorphism in humans and the great apes is generally maintained by balancing selection that modulates the host immune response in HUMAN GENOMICS
  • 2015-12 Identification of cancer predisposition variants in apparently healthy individuals using a next-generation sequencing-based family genomics approach in HUMAN GENOMICS
  • 2015-12 Evaluation of copy number variation and gene expression in neurofibromatosis type-1-associated malignant peripheral nerve sheath tumours in HUMAN GENOMICS
  • 2015-12 Remotely acting SMCHD1 gene regulatory elements: in silico prediction and identification of potential regulatory variants in patients with FSHD in HUMAN GENOMICS
  • 2015-10 A global reference for human genetic variation in NATURE
  • 2015-08 Erratum to: The somatic autosomal mutation matrix in cancer genomes in HUMAN GENETICS
  • 2015-08 The somatic autosomal mutation matrix in cancer genomes in HUMAN GENETICS
  • 2015-06 Characterization of 26 deletion CNVs reveals the frequent occurrence of micro-mutations within the breakpoint-flanking regions and frequent repair of double-strand breaks by templated insertions derived from remote genomic regions in HUMAN GENETICS
  • 2014-12 Integrating sequence and array data to create an improved 1000 Genomes Project haplotype reference panel in NATURE COMMUNICATIONS
  • 2014-12 Ranking non-synonymous single nucleotide polymorphisms based on disease concepts in HUMAN GENOMICS
  • 2014-06 SVA retrotransposon insertion-associated deletion represents a novel mutational mechanism underlying large genomic copy number changes with non-recurrent breakpoints in GENOME BIOLOGY
  • 2014-04 The emergence of the mitochondrial genome as a partial regulator of nuclear function is providing new insights into the genetic mechanisms underlying age-related complex disease in HUMAN GENETICS
  • 2014-04 MutationTaster2: mutation prediction for the deep-sequencing age in NATURE METHODS
  • 2014-04 Population-specific differences in gene conversion patterns between human SUZ12 and SUZ12P are indicative of the dynamic nature of interparalog gene conversion in HUMAN GENETICS
  • 2014-01 The Human Gene Mutation Database: building a comprehensive mutation repository for clinical and molecular genetics, diagnostic testing and personalized genomic medicine in HUMAN GENETICS
  • 2014-01 MutPred Splice: machine learning-based prediction of exonic variants that disrupt splicing in GENOME BIOLOGY
  • 2013-12 Genetic tests obtainable through pharmacies: the good, the bad, and the ugly in HUMAN GENOMICS
  • 2013-12 Screening in silico predicted remotely acting NF1gene regulatory elements for mutations in patients with neurofibromatosis type 1 in HUMAN GENOMICS
  • 2013-12 New clinical and molecular insights on Barth syndrome in ORPHANET JOURNAL OF RARE DISEASES
  • 2013-11 MuPIT interactive: webserver for mapping variant positions to annotated, interactive 3D structures in HUMAN GENETICS
  • 2013-10 Where genotype is not predictive of phenotype: towards an understanding of the molecular basis of reduced penetrance in human inherited disease in HUMAN GENETICS
  • 2013-06 DNA structure matters in GENOME MEDICINE
  • 2013-05 Identifying Mendelian disease genes with the Variant Effect Scoring Tool in BMC GENOMICS
  • 2013-03 DDIG-in: discriminating between disease-associated and neutral non-frameshifting micro-indels in GENOME BIOLOGY
  • 2013-02 A new paradigm emerges from the study of de novo mutations in the context of neurodevelopmental disease in MOLECULAR PSYCHIATRY
  • 2013 The Evolution of High-Throughput Sequencing Technologies: From Sanger to Single-Molecule Sequencing in NEXT GENERATION SEQUENCING IN CANCER RESEARCH
  • 2012-12 An emerging role for microRNAs in NF1 tumorigenesis in HUMAN GENOMICS
  • 2012-12 ‘Sifting the significance from the data’ - the impact of high-throughput genomic technologies on human genetics and health care in HUMAN GENOMICS
  • 2012-12 Molecular heterogeneity in malignant peripheral nerve sheath tumors associated with neurofibromatosis type 1 in HUMAN GENOMICS
  • 2012-12 Non-coding RNA ANRIL and the number of plexiform neurofibromas in patients with NF1microdeletions in BMC MEDICAL GENETICS
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