Searching map area
Elise Ruark
Works
Germline mutations in the oncogene EZH2 cause Weaver syndrome and increased human height.
? TBD
scientific article published on December 2011
The ICR639 CPG NGS validation series: A resource to assess analytical sensitivity of cancer predisposition gene testing
? TBD
article
Corrigendum: Mutations in the PP2A regulatory subunit B family genes PPP2R5B, PPP2R5C and PPP2R5D cause human overgrowth
? TBD
article
OpEx - a validated, automated pipeline optimised for clinical exome sequence analysis.
? TBD
scientific article published on 3 August 2016
Germline RAD51C mutations confer susceptibility to ovarian cancer
? TBD
A genome-wide association study identifies susceptibility loci for Wilms tumor
? TBD
scientific journal article
Mutations in Epigenetic Regulation Genes Are a Major Cause of Overgrowth with Intellectual Disability
? TBD
scientific article published on May 2017
Identification of new Wilms tumour predisposition genes: an exome sequencing study
? TBD
article
ICR142 Benchmarker: evaluating, optimising and benchmarking variant calling using the ICR142 NGS validation series
? TBD
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
? TBD
scientific article published on 18 April 2012
Mutations in the DNA methyltransferase gene DNMT3A cause an overgrowth syndrome with intellectual disability.
? TBD
scientific article published on 09 March 2014
Clinical Annotation Reference Templates: a resource for consistent variant annotation
? TBD