Constitutional aneuploidy and cancer predisposition caused by biallelic mutations in BUB1B

Sandra Hanks, Kim Coleman, Sarah Reid, +13

Nature Genetics

Biallelic MutationsSomatic VariantGenetic DisorderGeneticsPathology +5

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

I. Slade, Chiara Bacchelli, H. Davies, +28

Journal of Medical Genetics

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

Katrina Tatton‐Brown, Jenny Douglas, Kim Coleman, +12

The American Journal of Human Genetics

Sotos SyndromeGenotype-phenotype AssociationsGenetic DisorderGeneticsGenetic Epidemiology +5

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, +7

The American Journal of Human Genetics

Sotos SyndromeDevelopmental BiologyMendelian DisorderGenetic DisorderWeaver Syndrome +6

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

Elise Ruark, Katie Snape, Peter Humburg, +58

Nature

Breast OncologyCancer PathologyTumor HeterogeneityGeneticsMosaic Ppm1d Mutations +6

Mutations in the Gene Encoding Capillary Morphogenesis Protein 2 Cause Juvenile Hyaline Fibromatosis and Infantile Systemic Hyalinosis

Sandra Hanks, Sarah Adams, Jenny Douglas, +17

The American Journal of Human Genetics

FibrosisDevelopmental BiologyInfantile Systemic HyalinosisPathologyCraniofacial Development +4

Constitutional 11p15 abnormalities, including heritable imprinting center mutations, cause nonsyndromic Wilms tumor

Richard H. Scott, Jenny Douglas, Linda Baskcomb, +18

Nature Genetics

Nonsyndromic Wilms TumorDevelopmental AnomalyDevelopmental BiologySomatic VariantGenetic Disorder +9

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

Katrina Tatton‐Brown, Sandra Hanks, Elise Ruark, +24

Oncotarget

Mutations in CEP57 cause mosaic variegated aneuploidy syndrome

Katie Snape, Sandra Hanks, Elise Ruark, +18

Nature Genetics

CytogeneticsCep57 Cause MosaicGeneticsGenetic DisorderPathology +5

Brown adipose tissue thermogenesis is ‘suppressed’ during lactation in mice

Paul Trayhurn, Jenny Douglas, Martina M. McGuckin

Nature

Animal PhysiologyEnergy HomeostasisEnergy MetabolismDevelopmental BiologyLactation +12