<i>CDKL5</i> mutations cause infantile spasms, early onset seizures, and severe mental retardation in female patients

Hayley Archer, Julie Evans, Stuart W. Edwards, +9

Journal of Medical Genetics

Early onset seizures and Rett-like features associated with mutations in CDKL5

Julie Evans, Hayley Archer, James Colley, +15

European Journal of Human Genetics

Early Onset SeizuresRett-like FeaturesGenetic DisorderGeneticsNeuroscience +5

Multiple Rare Nonsynonymous Variants in the <i>Adenomatous Polyposis Coli</i> Gene Predispose to Colorectal Adenomas

Duncan Azzopardi, Anthony R. Dallosso, Kristilyn Eliason, +10

Cancer Research

Inherited predisposition to colorectal adenomas caused by multiple rare alleles of MUTYH but not OGG1, NUDT1, NTH1 or NEIL 1, 2 or 3

Anthony R. Dallosso, Sunil Dolwani, Nicola Jones, +20

Gut

Inflammatory Bowel Disease Is Linked to 19p13 and Associated with ICAM-1

Jin Hong Low, Fiona A. Williams, Yang Xuesong, +9

Inflammatory Bowel Diseases

Chronic Inflammatory DiseasesGeneticsImmunologyGastroenterologyPathology +15

Exome Resequencing Identifies Potential Tumor-Suppressor Genes that Predispose to Colorectal Cancer

Christopher G. Smith, Marc Naven, Rebecca Harris, +11

Human Mutation

Advanced CrcEngineeringCancer PathologyGeneticsPathology +21

Characterisation of novel mutations in Cockayne syndrome type A and xeroderma pigmentosum group C subjects

Andrew J. Ridley, James Colley, David Wynford‐Thomas, +1

Journal of Human Genetics

Developmental BiologyMendelian DisorderGenetic DisorderGeneticsNovel Mutations +6

Pharmacogenetic analyses of 2183 patients with advanced colorectal cancer; potential role for common dihydropyrimidine dehydrogenase variants in toxicity to chemotherapy

Ayman Madi, David J. Fisher, Tim Maughan, +10

European Journal of Cancer

OncologyOncogenic AgentMedicinePharmacogenetic AnalysesColorectal Cancer +6

ACTN3 genotypes of Rugby Union players: Distribution, power output and body composition

W. Bell, James Colley, W. D. Evans, +2

Annals of Human Biology