Sally Davies

NSD1 Mutations Are the Major Cause of Sotos Syndrome and Occur in Some Cases of Weaver Syndrome but Are Rare in Other Overgrowth Phenotypes

Jenny Douglas, Sandra Hanks, I. Karen Temple et al. · The American Journal of Human Genetics · 2003 · 300 citations · Full text

Sotos Syndrome, Developmental Biology, Mendelian Disorder +8

Histone Lysine Methylases and Demethylases in the Landscape of Human Developmental Disorders

Víctor Faúndes, William G. Newman, Laura Bernardini et al. · The American Journal of Human Genetics · 2017 · 268 citations · Full text

Histone Modifications, Chromatin, Developmental Biology +11

How genetically heterogeneous is Kabuki syndrome?: MLL2 testing in 116 patients, review and analyses of mutation and phenotypic spectrum

Siddharth Banka, Ratna Veeramachaneni, William Reardon et al. · European Journal of Human Genetics · 2011 · 180 citations · Full text

Mendelian Disorder, Autoimmune Disease, Genetic Disorder +13

Demonstration of somatic mutation and colonic crypt clonality by X-linked enzyme histochemistry

David F. Griffiths, Sally Davies, David W. Williams et al. · Nature · 1988 · 170 citations

Somatic Mutation, Xenotransplantation, Somatic Variant +12

Heimler Syndrome Is Caused by Hypomorphic Mutations in the Peroxisome-Biogenesis Genes PEX1 and PEX6

Ilham Ratbi, Kim D. Falkenberg, Manou Sommen et al. · The American Journal of Human Genetics · 2015 · 122 citations · Full text