Silvana Del Vecchio Duarte

Mutations in the DNA methyltransferase gene DNMT3A cause an overgrowth syndrome with intellectual disability

Katrina Tatton‐Brown, Sheila Seal, Elise Ruark et al. · Nature Genetics · 2014 · 362 citations · Full text

Life Sciences, Genetics, Molecular Genetics +16

Mosaic PPM1D mutations are associated with predisposition to breast and ovarian cancer

Elise Ruark, Katie Snape, Peter Humburg et al. · Nature · 2012 · 257 citations · Full text

Medicine, Genetics, Oncology +14

Germline mutations in the oncogene EZH2 cause Weaver syndrome and increased human height

Katrina Tatton‐Brown, Sandra Hanks, Elise Ruark et al. · Oncotarget · 2011 · 170 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

Germline mutations in the PAF1 complex gene CTR9 predispose to Wilms tumour

Sandra Hanks, Elizabeth R Perdeaux, Sheila Seal et al. · Nature Communications · 2014 · 98 citations · Full text

Medicine, Genetics, Molecular Genetics +17