List of works - Elise Ruark

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

scientific journal article

Accurate clinical detection of exon copy number variants in a targeted NGS panel using DECoN.

scientific article published on 25 November 2016

Biallelic TRIP13 mutations predispose to Wilms tumor and chromosome missegregation

scientific article published on 29 May 2017

CSN and CAVA: variant annotation tools for rapid, robust next-generation sequencing analysis in the clinical setting

scientific article published on 28 July 2015

Clinical Annotation Reference Templates: a resource for consistent variant annotation

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

article by Katrina Tatton-Brown et al published 30 November 2018 in Oncotarget

Corrigendum: Mutations in the PP2A regulatory subunit B family genes PPP2R5B, PPP2R5C and PPP2R5D cause human overgrowth

article

Corrigendum: Mutations in the transcriptional repressor REST predispose to Wilms tumor.

scientific article

CoverView: a sequence quality evaluation tool for next generation sequencing data.

scientific article

Erratum: Corrigendum: Mutations in the DNA methyltransferase gene DNMT3A cause an overgrowth syndrome with intellectual disability

article

Germline RAD51C mutations confer susceptibility to ovarian cancer

Germline mutations in RAD51D confer susceptibility to ovarian cancer

scientific article (publication date: 7 August 2011)

Germline mutations in the PAF1 complex gene CTR9 predispose to Wilms tumour.

scientific article

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

scientific article published on December 2011

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

Identification of new Wilms tumour predisposition genes: an exome sequencing study

article

Identification of nine new susceptibility loci for testicular cancer, including variants near DAZL and PRDM14

scientific article published on 12 May 2013

Implementing rapid, robust, cost-effective, patient-centred, routine genetic testing in ovarian cancer patients

scientific article published on 13 July 2016

Insights into BRCA Cancer Predisposition from Integrated Germline and Somatic Analyses in 7632 Cancers

scientific article published on 19 April 2019

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

scientific article

Mutations in CEP57 cause mosaic variegated aneuploidy syndrome.

scientific article

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

scientific article published on May 2017

Mutations in the DNA methyltransferase gene DNMT3A cause an overgrowth syndrome with intellectual disability.

scientific article published on 09 March 2014

Mutations in the PP2A regulatory subunit B family genes PPP2R5B, PPP2R5C and PPP2R5D cause human overgrowth.

scientific article published on 13 May 2015

Mutations in the transcriptional repressor REST predispose to Wilms tumor

scientific article published on 9 November 2015

OpEx - a validated, automated pipeline optimised for clinical exome sequence analysis.

scientific article published on 3 August 2016

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

scientific article published on 18 April 2012

Resolving the full spectrum of human genome variation using Linked-Reads

The ICR1000 UK exome series: a resource of gene variation in an outbred population

scientific article published on 22 September 2015

The ICR142 NGS validation series: a resource for orthogonal assessment of NGS analysis

scientific article

The ICR639 CPG NGS validation series: A resource to assess analytical sensitivity of cancer predisposition gene testing

article

The ICR96 exon CNV validation series: a resource for orthogonal assessment of exon CNV calling in NGS data

scientific article

The Quality Sequencing Minimum (QSM): providing comprehensive, consistent, transparent next generation sequencing data quality assurance

scientific article published on 4 April 2018

List of works by Elise Ruark

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

Accurate clinical detection of exon copy number variants in a targeted NGS panel using DECoN.

Biallelic TRIP13 mutations predispose to Wilms tumor and chromosome missegregation

CSN and CAVA: variant annotation tools for rapid, robust next-generation sequencing analysis in the clinical setting

Clinical Annotation Reference Templates: a resource for consistent variant annotation

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

Corrigendum: Mutations in the PP2A regulatory subunit B family genes PPP2R5B, PPP2R5C and PPP2R5D cause human overgrowth

Corrigendum: Mutations in the transcriptional repressor REST predispose to Wilms tumor.

CoverView: a sequence quality evaluation tool for next generation sequencing data.

Erratum: Corrigendum: Mutations in the DNA methyltransferase gene DNMT3A cause an overgrowth syndrome with intellectual disability

Germline RAD51C mutations confer susceptibility to ovarian cancer

Germline mutations in RAD51D confer susceptibility to ovarian cancer

Germline mutations in the PAF1 complex gene CTR9 predispose to Wilms tumour.

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

ICR142 Benchmarker: evaluating, optimising and benchmarking variant calling using the ICR142 NGS validation series

Identification of new Wilms tumour predisposition genes: an exome sequencing study

Identification of nine new susceptibility loci for testicular cancer, including variants near DAZL and PRDM14

Implementing rapid, robust, cost-effective, patient-centred, routine genetic testing in ovarian cancer patients

Insights into BRCA Cancer Predisposition from Integrated Germline and Somatic Analyses in 7632 Cancers

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

Mutations in CEP57 cause mosaic variegated aneuploidy syndrome.

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

Mutations in the DNA methyltransferase gene DNMT3A cause an overgrowth syndrome with intellectual disability.

Mutations in the PP2A regulatory subunit B family genes PPP2R5B, PPP2R5C and PPP2R5D cause human overgrowth.

Mutations in the transcriptional repressor REST predispose to Wilms tumor

OpEx - a validated, automated pipeline optimised for clinical exome sequence analysis.

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

Resolving the full spectrum of human genome variation using Linked-Reads

The ICR1000 UK exome series: a resource of gene variation in an outbred population

The ICR142 NGS validation series: a resource for orthogonal assessment of NGS analysis

The ICR639 CPG NGS validation series: A resource to assess analytical sensitivity of cancer predisposition gene testing

The ICR96 exon CNV validation series: a resource for orthogonal assessment of exon CNV calling in NGS data

The Quality Sequencing Minimum (QSM): providing comprehensive, consistent, transparent next generation sequencing data quality assurance