Jenny Douglas

Constitutional aneuploidy and cancer predisposition caused by biallelic mutations in BUB1B

Sandra Hanks, Kim Coleman, Sarah Reid et al. · Nature Genetics · 2004 · 604 citations · Full text

Biallelic Mutations, Somatic Variant, Genetic Disorder +7

<i>DICER1</i> syndrome: clarifying the diagnosis, clinical features and management implications of a pleiotropic tumour predisposition syndrome

I. Slade, Chiara Bacchelli, H. Davies et al. · Journal of Medical Genetics · 2011 · 361 citations · Full text

Genotype-Phenotype Associations in Sotos Syndrome: An Analysis of 266 Individuals with NSD1 Aberrations

Katrina Tatton‐Brown, Jenny Douglas, Kim Coleman et al. · The American Journal of Human Genetics · 2005 · 334 citations · Full text

Sotos Syndrome, Genotype-phenotype Associations, Genetic Disorder +7

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

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

Elise Ruark, Katie Snape, Peter Humburg et al. · Nature · 2012 · 256 citations · Full text

Breast Oncology, Cancer Pathology, Tumor Heterogeneity +8