researcher · Elise Ruark · YYNN

Elise Ruark

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researcher

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12

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

scientific article published on December 2011

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.

scientific article published on 3 August 2016

Germline RAD51C mutations confer susceptibility to ovarian cancer

A genome-wide association study identifies susceptibility loci for Wilms tumor

scientific journal article

Mutations in Epigenetic Regulation Genes Are a Major Cause of Overgrowth with Intellectual Disability

scientific article published on May 2017

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

article by Elise Ruark et al published 31 August 2018 in Wellcome Open Research

Predisposition gene identification in common cancers by exome sequencing: insights from familial breast cancer

scientific article published on 18 April 2012

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