Functional intronic polymorphisms: Buried treasure awaiting discovery within our genes

by Cooper, David N
Published 2010

Exploring the potential relevance of human-specific genes to complex disease

by Cooper, David N, Kehrer-Sawatzki, Hildegard
Published 2011

An emerging role for microRNAs in NF1 tumorigenesis

by Sedani, Ashni, Cooper, David N, Upadhyaya, Meena
Published 2012

Prospects for the automated extraction of mutation data from the scientific literature

by Stenson, Peter D, Cooper, David N
Published 2010

LINE-1 Endonuclease-Dependent Retrotranspositional Events Causing Human Genetic Disease: Mutation Detection Bias and Multiple Mechanisms of Target Gene Disruption

by Chen, Jian-Min, Férec, Claude, Cooper, David N.
Published 2006

DNA structure matters

by Bacolla, Albino, Cooper, David N, Vasquez, Karen M
Published 2013

A new era in the discovery of de novo mutations underlying human genetic disease

by Ku, Chee-Seng, Vasiliou, Vasilis, Cooper, David N
Published 2012

Characterisation of a functional intronic polymorphism in the human growth hormone (GHI) gene

by Millar, David S, Horan, Martin, Chuzhanova, Nadia A, Cooper, David N
Published 2010

Local sequence determinants of two in-frame triplet deletion/duplication hotspots in the RHD/RHCE genes

by Chen, Jian-Min, Cooper, David N, Férec, Claude
Published 2012

Molecular heterogeneity in malignant peripheral nerve sheath tumors associated with neurofibromatosis type 1

by Thomas, Laura, Mautner, Victor-Felix, Cooper, David N, Upadhyaya, Meena
Published 2012

Mechanisms of Base Substitution Mutagenesis in Cancer Genomes

by Bacolla, Albino, Cooper, David N., Vasquez, Karen M.
Published 2014

Gene Conversion in Human Genetic Disease

by Chen, Jian-Min, Férec, Claude, Cooper, David N.
Published 2010

Trans-species polymorphism in humans and the great apes is generally maintained by balancing selection that modulates the host immune response

by Azevedo, Luisa, Serrano, Catarina, Amorim, Antonio, Cooper, David N.
Published 2015

The Human Gene Mutation Database: providing a comprehensive central mutation database for molecular diagnostics and personalised genomics

by Stenson, Peter D, Ball, Edward V, Howells, Katy, Phillips, Andrew D, Mort, Matthew, Cooper, David N
Published 2009

Methylation-mediated deamination of 5-methylcytosine appears to give rise to mutations causing human inherited disease in CpNpG trinucleotides, as well as in CpG dinucleotides

by Cooper, David N, Mort, Matthew, Stenson, Peter D, Ball, Edward V, Chuzhanova, Nadia A
Published 2010

A meta-analysis of single base-pair substitutions in translational termination codons ('nonstop' mutations) that cause human inherited disease

by Hamby, Stephen E, Thomas, Nick ST, Cooper, David N, Chuzhanova, Nadia
Published 2011

Neurofibromatosis type 1-associated tumours: Their somatic mutational spectrum and pathogenesis

by Spyk, Sebastian Laycock-van, Thomas, Nick, Cooper, David N, Upadhyaya, Meena
Published 2011

Human genetics and genomics a decade after the release of the draft sequence of the human genome

by Naidoo, Nasheen, Pawitan, Yudi, Soong, Richie, Cooper, David N, Ku, Chee-Seng
Published 2011

Identifying Mendelian disease genes with the Variant Effect Scoring Tool

by Carter, Hannah, Douville, Christopher, Stenson, Peter D, Cooper, David N, Karchin, Rachel
Published 2013

Predicting the functional consequences of cancer-associated amino acid substitutions

by Shihab, Hashem A., Gough, Julian, Cooper, David N., Day, Ian N. M., Gaunt, Tom R.
Published 2013