Geoffrey Woods

Comprehensive Rare Variant Analysis via Whole-Genome Sequencing to Determine the Molecular Pathology of Inherited Retinal Disease

Keren Carss, Gavin Arno, Marie Erwood et al. · The American Journal of Human Genetics · 2016 · 463 citations · Full text

Whole-genome Sequencing, Allelic Variant, Genetic Disorder +11

Expanding the clinical spectrum associated with defects in CNTNAP2 and NRXN1

Anne Gregor, Beate Albrecht, Ingrid Bader et al. · BMC Medical Genetics · 2011 · 121 citations · Full text

Comprehensive Cancer-Predisposition Gene Testing in an Adult Multiple Primary Tumor Series Shows a Broad Range of Deleterious Variants and Atypical Tumor Phenotypes

James Whitworth, Philip Smith, Jose‐Ezequiel Martín et al. · The American Journal of Human Genetics · 2018 · 70 citations · Full text

Tumor Biology, Somatic Variant, Broad Range +13

A novel locus for Meckel-Gruber syndrome, MKS3 , maps to chromosome 8q24

Neil V. Morgan, Paul Gissen, Saghira Malik Sharif et al. · Human Genetics · 2002 · 64 citations

Developmental Biology, Genetic Disorder, Genetics +8

The presence of multiple regions of homozygous deletion at the <i>CSMD1</i> locus in oral squamous cell carcinoma question the role of <i>CSMD1</i> in head and neck carcinogenesis

Carmel Toomes, Andrew P. Jackson, Kristie Maguire et al. · Genes Chromosomes and Cancer · 2003 · 49 citations