Functional intronic polymorphisms: Buried treasure awaiting discovery within our genes

by Cooper David N
Published 2010-06-01

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

by Stenson Peter D, Cooper David N
Published 2010-10-01

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

by Cooper David N, Kehrer-Sawatzki Hildegard
Published 2011-01-01

An emerging role for microRNAs in NF1 tumorigenesis

by Sedani Ashni, Cooper David N, Upadhyaya Meena
Published 2012-11-01

A new era in the discovery of <it>de novo</it> mutations underlying human genetic disease

by Ku Chee-Seng, Vasiliou Vasilis, Cooper David N
Published 2012-12-01

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

by Chen Jian-Min, Cooper David N, Férec Claude
Published 2012-08-01

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

by Spyk Sebastian, Thomas Nick, Cooper David N, Upadhyaya Meena
Published 2011-10-01

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 2012-09-01

Characterisation of a functional intronic polymorphism in the human growth hormone (<it>GHI</it>) gene

by Millar David S, Horan Martin, Chuzhanova Nadia A, Cooper David N
Published 2010-06-01

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 2011-05-01

Genotype-phenotype associations in neurofibromatosis type 1 (NF1): an increased risk of tumor complications in patients with <it>NF1</it> splice-site mutations?

by Alkindy Adila, Chuzhanova Nadia, Kini Usha, Cooper David N, Upadhyaya Meena
Published 2012-08-01

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 2011-10-01

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 2010-08-01

Cross-comparison of the genome sequences from human, chimpanzee, Neanderthal and a Denisovan hominin identifies novel potentially compensated mutations

by Zhang Guojie, Pei Zhang, Ball Edward V, Mort Matthew, Kehrer-Sawatzki Hildegard, Cooper David N
Published 2011-07-01

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 2009-12-01

Gene synteny comparisons between different vertebrates provide new insights into breakage and fusion events during mammalian karyotype evolution

by Högel Josef, Froenicke Lutz, Cooper David N, Kohn Matthias, Kemkemer Claus, Hameister Horst, Kehrer-Sawatzki Hildegard
Published 2009-04-01

Non-coding RNA <it>ANRIL</it> and the number of plexiform neurofibromas in patients with <it>NF1</it> microdeletions

by Mußotter Tanja, Kluwe Lan, Högel Josef, Nguyen Rosa, Cooper David N, Mautner Victor-Felix, Kehrer-Sawatzki Hildegard
Published 2012-10-01

An isolated case of lissencephaly caused by the insertion of a mitochondrial genome-derived DNA sequence into the 5' untranslated region of the <it>PAFAH1B1 </it>(LIS1) gene

by Millar David S, Tysoe Carolyn, Lazarou Lazarus P, Pilz Daniela T, Mohammed Shehla, Anderson Katharine, Chuzhanova Nadia, Cooper David N, Butler Rachel
Published 2010-08-01

Delineation of the clinical phenotype associated with non-mosaic type-2 <it>NF1 </it>deletions: two case reports

by Vogt Julia, Nguyen Rosa, Kluwe Lan, Schuhmann Martin, Roehl Angelika C, Mußotter Tanja, Cooper David N, Mautner Victor-Felix, Kehrer-Sawatzki Hildegard
Published 2011-12-01

‘Sifting the significance from the data’ - the impact of high-throughput genomic technologies on human genetics and health care

by Clarke Angus J, Cooper David N, Krawczak Michael, Tyler-Smith Chris, Wallace Helen M, Wilkie Andrew O M, Raymond Frances, Chadwick Ruth, Craddock Nick, John Ros, Gallacher John, Chiano Mathias
Published 2012-08-01