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Author Details

Nigel P Carter
4Wellcome Trust Sanger Institute
1989
202
79
PMIDPaper TitleJournal TitlePublished Year
29872697Chromosomal breaks at FRA18C: association with reduced <i>DOK6</i> expression, altered oncogenic signaling and increased gastric cancer survival.NPJ Precis Oncol2017
29872697Chromosomal breaks at FRA18C: association with reduced <i>DOK6</i> expression, altered oncogenic signaling and increased gastric cancer survival.NPJ Precis Oncol2017
25529582Genetic diagnosis of developmental disorders in the DDD study: a scalable analysis of genome-wide research data.Lancet2015
25529582Genetic diagnosis of developmental disorders in the DDD study: a scalable analysis of genome-wide research data.Lancet2015
26420380Recurrent duplications of 17q12 associated with variable phenotypes.Am J Med Genet A2015
26420380Recurrent duplications of 17q12 associated with variable phenotypes.Am J Med Genet A2015
23352258Genetic basis of Y-linked hearing impairment.Am J Hum Genet2013
23596509Massively parallel sequencing reveals the complex structure of an irradiated human chromosome on a mouse background in the Tc1 model of Down syndrome.PLoS One2013
23352258Genetic basis of Y-linked hearing impairment.Am J Hum Genet2013
23596509Massively parallel sequencing reveals the complex structure of an irradiated human chromosome on a mouse background in the Tc1 model of Down syndrome.PLoS One2013
21934607An atypical facial appearance and growth pattern in a child with Cornelia de Lange Syndrome: an intragenic deletion predicting loss of the N-terminal region of NIPBL.Clin Dysmorphol2012
26285306Diagnostic interpretation of array data using public databases and internet sources.Hum Mutat2012
22962312DECIPHER: web-based, community resource for clinical interpretation of rare variants in developmental disorders.Hum Mol Genet2012
22341448Genome sequencing and analysis of the Tasmanian devil and its transmissible cancer.Cell2012
21994251Estimation of rearrangement phylogeny for cancer genomes.Genome Res2012
21934607An atypical facial appearance and growth pattern in a child with Cornelia de Lange Syndrome: an intragenic deletion predicting loss of the N-terminal region of NIPBL.Clin Dysmorphol2012
26285306Diagnostic interpretation of array data using public databases and internet sources.Hum Mutat2012
22962312DECIPHER: web-based, community resource for clinical interpretation of rare variants in developmental disorders.Hum Mol Genet2012
22341448Genome sequencing and analysis of the Tasmanian devil and its transmissible cancer.Cell2012
21994251Estimation of rearrangement phylogeny for cancer genomes.Genome Res2012
21278390High incidence of recurrent copy number variants in patients with isolated and syndromic Müllerian aplasia.J Med Genet2011
21349920FoSTeS, MMBIR and NAHR at the human proximal Xp region and the mechanisms of human Xq isochromosome formation.Hum Mol Genet2011
21215367Massive genomic rearrangement acquired in a single catastrophic event during cancer development.Cell2011
21378977Fetal-specific DNA methylation ratio permits noninvasive prenatal diagnosis of trisomy 21.Nat Med2011
21357574aCGH.Spline--an R package for aCGH dye bias normalization.Bioinformatics2011
21278390High incidence of recurrent copy number variants in patients with isolated and syndromic Müllerian aplasia.J Med Genet2011
21948691Maternally inherited partial monosomy 9p (pterâ¿¿â¿¿â¿¿p24.1) and partial trisomy 20p (pterâ¿¿â¿¿â¿¿p12.1) characterized by microarray comparative genomic hybridization.Am J Med Genet A2011
21552272Comprehensive assessment of array-based platforms and calling algorithms for detection of copy number variants.Nat Biotechnol2011
21948691Maternally inherited partial monosomy 9p (pterâ¿¿â¿¿â¿¿p24.1) and partial trisomy 20p (pterâ¿¿â¿¿â¿¿p12.1) characterized by microarray comparative genomic hybridization.Am J Med Genet A2011
21552272Comprehensive assessment of array-based platforms and calling algorithms for detection of copy number variants.Nat Biotechnol2011
21378977Fetal-specific DNA methylation ratio permits noninvasive prenatal diagnosis of trisomy 21.Nat Med2011
21349920FoSTeS, MMBIR and NAHR at the human proximal Xp region and the mechanisms of human Xq isochromosome formation.Hum Mol Genet2011
21357574aCGH.Spline--an R package for aCGH dye bias normalization.Bioinformatics2011
21215367Massive genomic rearrangement acquired in a single catastrophic event during cancer development.Cell2011
19812545Origins and functional impact of copy number variation in the human genome.Nature2010
20847278Differential DNA methylation as a tool for noninvasive prenatal diagnosis (NIPD) of X chromosome aneuploidies.J Mol Diagn2010
20673863Distinct effects of allelic NFIX mutations on nonsense-mediated mRNA decay engender either a Sotos-like or a Marshall-Smith syndrome.Am J Hum Genet2010
20466091Consensus statement: chromosomal microarray is a first-tier clinical diagnostic test for individuals with developmental disabilities or congenital anomalies.Am J Hum Genet2010
20506467Laser excitation power and the flow cytometric resolution of complex karyotypes.Cytometry A2010
20298200Confirmed rare copy number variants implicate novel genes in schizophrenia.Biochem Soc Trans2010
19812545Origins and functional impact of copy number variation in the human genome.Nature2010
20364138Discovery of common Asian copy number variants using integrated high-resolution array CGH and massively parallel DNA sequencing.Nat Genet2010
20360734Genome-wide association study of CNVs in 16,000 cases of eight common diseases and 3,000 shared controls.Nature2010
20847278Differential DNA methylation as a tool for noninvasive prenatal diagnosis (NIPD) of X chromosome aneuploidies.J Mol Diagn2010
20506467Laser excitation power and the flow cytometric resolution of complex karyotypes.Cytometry A2010
20466091Consensus statement: chromosomal microarray is a first-tier clinical diagnostic test for individuals with developmental disabilities or congenital anomalies.Am J Hum Genet2010
20673863Distinct effects of allelic NFIX mutations on nonsense-mediated mRNA decay engender either a Sotos-like or a Marshall-Smith syndrome.Am J Hum Genet2010
20364138Discovery of common Asian copy number variants using integrated high-resolution array CGH and massively parallel DNA sequencing.Nat Genet2010
20360734Genome-wide association study of CNVs in 16,000 cases of eight common diseases and 3,000 shared controls.Nature2010
20298200Confirmed rare copy number variants implicate novel genes in schizophrenia.Biochem Soc Trans2010
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Collaborators

Co-authored papers 49
Co-authored papers 25
Wellcome Sanger Institute
Co-authored papers 21
European Bioinformatics Institute (EMBL-EBI)
Co-authored papers 17
Illumina Cambridge Ltd.
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Illumina Cambridge Ltd.
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The Wellcome Trust Sanger Institute
Co-authored papers 16
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European Bioinformatics Institute
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The Hospital for Sick Children
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William Harvey Research Institute, Queen Mary University of London
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The Wellcome Trust Sanger Institute
Co-authored papers 11
UCL Cancer Institute, University College London
Co-authored papers 11
University of Cambridge
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Institute of Biotechnology, University of Cambridge
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National Human Genome Research Institute, National Institutes of Health
Co-authored papers 10
University of Cambridge
Co-authored papers 10
Illumina Ltd.
Co-authored papers 10
Wellcome Sanger Institute
Co-authored papers 10
Co-authored papers 9
Co-authored papers 9
University of Oxford
Co-authored papers 9
Inivata Ltd.
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Wellcome Sanger Institute
Co-authored papers 8
University of Washington
Co-authored papers 7
Wellcome Trust Sanger Institute
Co-authored papers 7