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Germline mutations in the oncogene EZH2 cause Weaver syndrome and increased human height.
The ICR639 CPG NGS validation series: A resource to assess analytical sensitivity of cancer predisposition gene testing
Corrigendum: Mutations in the PP2A regulatory subunit B family genes PPP2R5B, PPP2R5C and PPP2R5D cause human overgrowth
OpEx - a validated, automated pipeline optimised for clinical exome sequence analysis.
Germline RAD51C mutations confer susceptibility to ovarian cancer
A genome-wide association study identifies susceptibility loci for Wilms tumor
Mutations in Epigenetic Regulation Genes Are a Major Cause of Overgrowth with Intellectual Disability
Identification of new Wilms tumour predisposition genes: an exome sequencing study
ICR142 Benchmarker: evaluating, optimising and benchmarking variant calling using the ICR142 NGS validation series
Predisposition gene identification in common cancers by exome sequencing: insights from familial breast cancer
