Diana C. Blaydon

A recessive contiguous gene deletion causing infantile hyperinsulinism, enteropathy and deafness identifies the Usher type 1C gene

Maria Bitner‐Glindzicz, Keith Lindley, Paul Rutland et al. · Nature Genetics · 2000 · 324 citations

Infantile Hyperinsulinism, Mendelian Disorder, Genetic Disorder +9

Inflammatory Skin and Bowel Disease Linked to<i>ADAM17</i>Deletion

Diana C. Blaydon, Paolo Biancheri, Wei‐Li Di et al. · New England Journal of Medicine · 2011 · 304 citations · Full text

Chronic Inflammatory Diseases, Immunodeficiencies, Immunology +26

RHBDF2 Mutations Are Associated with Tylosis, a Familial Esophageal Cancer Syndrome

Diana C. Blaydon, Sarah Etheridge, Janet M. Risk et al. · The American Journal of Human Genetics · 2012 · 200 citations · Full text

Somatic Variant, Esophageal Cancer, Genetic Disorder +8

The gene encoding R-spondin 4 (RSPO4), a secreted protein implicated in Wnt signaling, is mutated in inherited anonychia

Diana C. Blaydon, Yoshiyuki Ishii, Edel A. O’Toole et al. · Nature Genetics · 2006 · 187 citations

Transcriptional Regulation, Developmental Biology, Disease Mechanism +9

Genomewide Single Nucleotide Polymorphism Microarray Mapping in Basal Cell Carcinomas Unveils Uniparental Disomy as a Key Somatic Event

Muy‐Teck Teh, Diana C. Blaydon, Tracy Chaplin et al. · Cancer Research · 2005 · 165 citations · Full text