List of works - Nigel Carter

A second generation human haplotype map of over 3.1 million SNPs

scientific article

Accurate whole human genome sequencing using reversible terminator chemistry

scientific article

Comprehensive assessment of array-based platforms and calling algorithms for detection of copy number variants

scientific article (publication date: 8 May 2011)

DECIPHER: web-based, community resource for clinical interpretation of rare variants in developmental disorders

scientific article

Distinct effects of allelic NFIX mutations on nonsense-mediated mRNA decay engender either a Sotos-like or a Marshall-Smith syndrome

scientific article

Genetic diagnosis of developmental disorders in the DDD study: a scalable analysis of genome-wide research data

scientific article

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

scientific article

Genome-wide detection and characterization of positive selection in human populations

scientific article

Global variation in copy number in the human genome

scientific article

Identification and analysis of functional elements in 1% of the human genome by the ENCODE pilot project

scientific article published in June 2007

Initial sequencing and analysis of the human genome

scientific article published on 15 February 2001

Interstitial 9q22.3 microdeletion: clinical and molecular characterisation of a newly recognised overgrowth syndrome

scientific article published in June 2006

Mutations in TCF4, encoding a class I basic helix-loop-helix transcription factor, are responsible for Pitt-Hopkins syndrome, a severe epileptic encephalopathy associated with autonomic dysfunction

scientific article

Origins and functional impact of copy number variation in the human genome

scientific article (publication date: April 2010)

Paired-end mapping reveals extensive structural variation in the human genome

scientific article

The DNA sequence of the human X chromosome

scientific article published on 17 March 2005

List of works by Nigel Carter

A second generation human haplotype map of over 3.1 million SNPs

Accurate whole human genome sequencing using reversible terminator chemistry

Comprehensive assessment of array-based platforms and calling algorithms for detection of copy number variants

DECIPHER: web-based, community resource for clinical interpretation of rare variants in developmental disorders

Distinct effects of allelic NFIX mutations on nonsense-mediated mRNA decay engender either a Sotos-like or a Marshall-Smith syndrome

Genetic diagnosis of developmental disorders in the DDD study: a scalable analysis of genome-wide research data

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

Genome-wide detection and characterization of positive selection in human populations

Global variation in copy number in the human genome

Identification and analysis of functional elements in 1% of the human genome by the ENCODE pilot project

Initial sequencing and analysis of the human genome

Interstitial 9q22.3 microdeletion: clinical and molecular characterisation of a newly recognised overgrowth syndrome

Mutations in TCF4, encoding a class I basic helix-loop-helix transcription factor, are responsible for Pitt-Hopkins syndrome, a severe epileptic encephalopathy associated with autonomic dysfunction

Origins and functional impact of copy number variation in the human genome

Paired-end mapping reveals extensive structural variation in the human genome

The DNA sequence of the human X chromosome