Publications by authors named "Nigel P Carter"

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Chromosomal breaks at FRA18C: association with reduced expression, altered oncogenic signaling and increased gastric cancer survival.
Siew Hong Leong, Kyaw Myo Lwin, Sze Sing Lee, Wai Har Ng, Kia Min Ng, Nigel P Carter

NPJ Precis Oncol· May 2017

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Genetic diagnosis of developmental disorders in the DDD study: a scalable analysis of genome-wide research data.
Caroline F Wright, Tomas W Fitzgerald, Wendy D Jones, Stephen Clayton, Jeremy F McRae, Nigel P Carter

Lancet· April 2015

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Massively parallel sequencing reveals the complex structure of an irradiated human chromosome on a mouse background in the Tc1 model of Down syndrome.
Susan M Gribble, Frances K Wiseman, Stephen Clayton, Elena Prigmore, Elizabeth Langley, Nigel P Carter

PLoS One· October 2013

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The zebrafish reference genome sequence and its relationship to the human genome.
Kerstin Howe, Matthew D Clark, Carlos F Torroja, James Torrance, Camille Berthelot, Nigel P Carter

Nature· April 2013

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Genetic basis of Y-linked hearing impairment.
Qiuju Wang, Yali Xue, Yujun Zhang, Quan Long, Asan, Nigel P Carter

Am J Hum Genet· February 2013

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DECIPHER: web-based, community resource for clinical interpretation of rare variants in developmental disorders.
Ganesh J Swaminathan, Eugene Bragin, Eleni A Chatzimichali, Manuel Corpas, A Paul Bevan, Nigel P Carter

Hum Mol Genet· October 2012

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Diagnostic interpretation of array data using public databases and internet sources.
Nicole de Leeuw, Trijnie Dijkhuizen, Jayne Y Hehir-Kwa, Nigel P Carter, Lars Feuk

Hum Mutat· June 2012

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Genome sequencing and analysis of the Tasmanian devil and its transmissible cancer.
Elizabeth P Murchison, Ole B Schulz-Trieglaff, Zemin Ning, Ludmil B Alexandrov, Markus J Bauer, Nigel P Carter

Cell· February 2012

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An 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.
Jennie E Murray, Muhammed Walayat, Peter Gillett, Freddie H Sharkey, Diana Rajan, Nigel P Carter

Clin Dysmorphol· January 2012

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Maternally inherited partial monosomy 9p (pter → p24.1) and partial trisomy 20p (pter → p12.1) characterized by microarray comparative genomic hybridization.
Érika L Freitas, Susan M Gribble, Milena Simioni, Társis P Vieira, Roseane L Silva-Grecco, Nigel P Carter

Am J Med Genet A· November 2011

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FoSTeS, MMBIR and NAHR at the human proximal Xp region and the mechanisms of human Xq isochromosome formation.
George Koumbaris, Hariklia Hatzisevastou-Loukidou, Angelos Alexandrou, Marios Ioannides, Christodoulos Christodoulou, Nigel P Carter

Hum Mol Genet· May 2011

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aCGH.Spline--an R package for aCGH dye bias normalization.
Tomas W Fitzgerald, Lee D Larcombe, Solena Le Scouarnec, Stephen Clayton, Diana Rajan, Nigel P Carter

Bioinformatics· May 2011

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Comprehensive assessment of array-based platforms and calling algorithms for detection of copy number variants.
Dalila Pinto, Katayoon Darvishi, Xinghua Shi, Diana Rajan, Diane Rigler, Nigel P Carter

Nat Biotechnol· May 2011

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Fetal-specific DNA methylation ratio permits noninvasive prenatal diagnosis of trisomy 21.
Elisavet A Papageorgiou, Alex Karagrigoriou, Evdokia Tsaliki, Voula Velissariou, Nigel P Carter

Nat Med· April 2011

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High incidence of recurrent copy number variants in patients with isolated and syndromic Müllerian aplasia.
Serena Nik-Zainal, Reiner Strick, Mekayla Storer, Ni Huang, Roland Rad, Nigel P Carter

J Med Genet· March 2011

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Massive genomic rearrangement acquired in a single catastrophic event during cancer development.
Philip J Stephens, Chris D Greenman, Beiyuan Fu, Fengtang Yang, Graham R Bignell, Nigel P Carter

Cell· January 2011

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Differential DNA methylation as a tool for noninvasive prenatal diagnosis (NIPD) of X chromosome aneuploidies.
Floriana Della Ragione, Paola Mastrovito, Ciro Campanile, Anna Conti, Elisavet A Papageorgiou, Nigel P Carter

J Mol Diagn· November 2010

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Distinct effects of allelic NFIX mutations on nonsense-mediated mRNA decay engender either a Sotos-like or a Marshall-Smith syndrome.
Valérie Malan, Diana Rajan, Sophie Thomas, Adam C Shaw, Hélène Louis Dit Picard, Nigel P Carter

Am J Hum Genet· August 2010

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Laser excitation power and the flow cytometric resolution of complex karyotypes.
Bee L Ng, Nigel P Carter

Cytometry A· June 2010

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Discovery of common Asian copy number variants using integrated high-resolution array CGH and massively parallel DNA sequencing.
Hansoo Park, Jong-Il Kim, Young Seok Ju, Omer Gokcumen, Ryan E Mills, Nigel P Carter

Nat Genet· May 2010

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Consensus statement: chromosomal microarray is a first-tier clinical diagnostic test for individuals with developmental disabilities or congenital anomalies.
David T Miller, Margaret P Adam, Swaroop Aradhya, Leslie G Biesecker, Arthur R Brothman, Nigel P Carter

Am J Hum Genet· May 2010

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Origins and functional impact of copy number variation in the human genome.
Donald F Conrad, Dalila Pinto, Richard Redon, Lars Feuk, Omer Gokcumen, Nigel P Carter

Nature· April 2010

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Confirmed rare copy number variants implicate novel genes in schizophrenia.
Gloria W C Tam, Louie N van de Lagemaat, Richard Redon, Karen E Strathdee, Mike D R Croning, Nigel P Carter

Biochem Soc Trans· April 2010

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Genome-wide association study of CNVs in 16,000 cases of eight common diseases and 3,000 shared controls.

Nature· April 2010

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Array painting: a protocol for the rapid analysis of aberrant chromosomes using DNA microarrays.
Susan M Gribble, Bee Ling Ng, Elena Prigmore, Tomas Fitzgerald, Nigel P Carter

Nat Protoc· February 2010

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