Lista de obras -

A second generation human haplotype map of over 3.1 million SNPs

artículo científico publicado en 2007

Accurate whole human genome sequencing using reversible terminator chemistry

artículo científico publicado en 2008

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

artículo científico publicado en 2011

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

artículo científico publicado en 2012

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

artículo científico publicado en 2010

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

artículo científico publicado en 2014

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

artículo científico publicado en 2010

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

artículo científico publicado en 2007

Global variation in copy number in the human genome

artículo científico publicado en 2006

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

artículo científico publicado en 2007

Initial sequencing and analysis of the human genome

artículo científico publicado en 2001

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

artículo científico publicado en 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

artículo científico publicado en 2007

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

artículo científico publicado en 2010

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

artículo científico publicado en 2007

The DNA sequence of the human X chromosome

artículo científico publicado en 2005

Lista de obras de

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