Victoria A. Murday

Localization of the gene for familial adenomatous polyposis on chromosome 5

Walter F. Bodmer, Clyde Bailey, J. G. Bodmer et al. · Nature · 1987 · 1.4K citations · Full text

Cytogenetics, Familial Adenomatous Polyposis, Genetics +8

Localization of the gene for Cowden disease to chromosome 10q22–23

Marcel Nelen, G.W. Padberg, E Peeters et al. · Nature Genetics · 1996 · 669 citations

Cowden Disease, Genetics, Pathogenesis +5

PTEN Mutation Spectrum and Genotype-Phenotype Correlations in Bannayan-Riley-Ruvalcaba Syndrome Suggest a Single Entity With Cowden Syndrome

Deborah J. Marsh, Jennifer B. Kum, Kathryn L. Lunetta et al. · Human Molecular Genetics · 1999 · 605 citations

Genotype-phenotype Correlations, Mendelian Disorder, Malignant Disease +15

Mutations in GATA2 cause primary lymphedema associated with a predisposition to acute myeloid leukemia (Emberger syndrome)

Pia Østergaard, Michael A. Simpson, Fiona Connell et al. · Nature Genetics · 2011 · 494 citations

Hematological Malignancy, Genetic Disorder, Mixed-phenotype Acute Leukemia +8

Recessive Robinow syndrome, allelic to dominant brachydactyly type B, is caused by mutation of ROR2

Ali R. Afzal, Anna Rajab, Christiane Fenske et al. · Nature Genetics · 2000 · 303 citations

Allelic Variant, Mendelian Disorder, Genetic Disorder +9