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Elise Ruark · SciRah

Researcher profile · Semantic Scholar

Elise Ruark

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Elise Ruark — researcher profile on SciRah

h-index: 20
Works: 44
Citations: 3,230

Most-cited papers

Germline mutations in RAD51D confer susceptibility to ovarian cancer
C. Loveday, C. Turnbull, Emma Ramsay, D. Hughes +38 more
2011Nature Genetics535 citations Open access
Semantic Scholar
Mutations in the DNA methyltransferase gene, DNMT3A, cause an overgrowth syndrome with intellectual disability
K. Tatton-Brown, S. Seal, Elise Ruark, J. Harmer +19 more
2014Nature Genetics329 citations Open access
Semantic Scholar
Mosaic PPM1D mutations are associated with predisposition to breast and ovarian cancer
Elise Ruark, K. Snape, P. Humburg, C. Loveday +58 more
2012Nature234 citations Open access
Semantic Scholar
Resolving the full spectrum of human genome variation using Linked-Reads
P. Marks, Sarah Garcia, A. M. Barrio, K. Belhocine +40 more
2017bioRxiv225 citations Open access
Semantic Scholar
Implementing rapid, robust, cost-effective, patient-centred, routine genetic testing in ovarian cancer patients
A. George, Daniel Riddell, S. Seal, S. Talukdar +10 more
2016Scientific Reports216 citations Open access
Semantic Scholar
Mutations in Epigenetic Regulation Genes Are a Major Cause of Overgrowth with Intellectual Disability
K. Tatton-Brown, C. Loveday, Shawn Yost, M. Clarke +13 more
2017American Journal of Human Genetics190 citations Open access
Semantic Scholar
Germline mutations in the oncogene EZH2 cause Weaver syndrome and increased human height
K. Tatton-Brown, S. Hanks, Elise Ruark, Anna Zachariou +23 more
2011OncoTarget161 citations Open access
Semantic Scholar
Germline RAD51C mutations confer susceptibility to ovarian cancer
C. Loveday, C. Turnbull, Elise Ruark, R. Xicola +11 more
2012Nature Genetics145 citations
Semantic Scholar
Identification of nine new susceptibility loci for testicular cancer, including variants near DAZL and PRDM14
Elise Ruark, S. Seal, H. McDonald, Feng Zhang +16 more
2013Nature Genetics144 citations Open access
Semantic Scholar
Biallelic TRIP13 mutations predispose to Wilms tumor and chromosome missegregation
Shawn Yost, B. de Wolf, S. Hanks, Anna Zachariou +17 more
2017Nature Genetics134 citations Open access
Semantic Scholar
Mutations in CEP57 cause mosaic variegated aneuploidy syndrome
K. Snape, S. Hanks, Elise Ruark, P. Barros-Núñez +17 more
2011Nature Genetics122 citations Open access
Semantic Scholar
Identification of new Wilms tumour predisposition genes: an exome sequencing study
S. Mahamdallie, Shawn Yost, E. Poyastro-Pearson, Esty Holt +23 more
2019The Lancet Child & Adolescent Health113 citations Open access
Semantic Scholar
Accurate clinical detection of exon copy number variants in a targeted NGS panel using DECoN
Anna Fowler, S. Mahamdallie, Elise Ruark, S. Seal +7 more
2016Wellcome Open Research96 citations Open access
Semantic Scholar
Germline mutations in the PAF1 complex gene CTR9 predispose to Wilms tumour
S. Hanks, Elizabeth R. Perdeaux, S. Seal, Elise Ruark +13 more
2014Nature Communications93 citations Open access
Semantic Scholar
Mutations in the PP2A regulatory subunit B family genes PPP2R5B, PPP2R5C and PPP2R5D cause human overgrowth
C. Loveday, K. Tatton-Brown, M. Clarke, I. Westwood +11 more
2015Human Molecular Genetics92 citations Open access
Semantic Scholar
Mutations in the transcriptional repressor REST predispose to Wilms tumor
S. Mahamdallie, S. Hanks, Kristen L. Karlin, Anna Zachariou +21 more
2015Nature Genetics72 citations
Semantic Scholar
CSN and CAVA: variant annotation tools for rapid, robust next-generation sequencing analysis in the clinical setting
Márton Münz, Elise Ruark, A. Renwick, Emma Ramsay +7 more
2015Genome Medicine68 citations Open access
Semantic Scholar
A genome-wide association study identifies susceptibility loci for Wilms tumor
C. Turnbull, Elizabeth R. Perdeaux, D. Pernet, A. Naranjo +28 more
2012Nature Genetics68 citations Open access
Semantic Scholar
Predisposition gene identification in common cancers by exome sequencing: insights from familial breast cancer
K. Snape, Elise Ruark, P. Tarpey, A. Renwick +7 more
2012Breast Cancer Research and Treatment66 citations Open access
Semantic Scholar
The ICR1000 UK exome series: a resource of gene variation in an outbred population
Elise Ruark, Márton Münz, A. Renwick, M. Clarke +8 more
2015F1000Research31 citations Open access
Semantic Scholar
The ICR96 exon CNV validation series: a resource for orthogonal assessment of exon CNV calling in NGS data
S. Mahamdallie, Elise Ruark, Shawn Yost, Emma Ramsay +7 more
2017Wellcome Open Research19 citations Open access
Semantic Scholar
Insights into BRCA Cancer Predisposition from Integrated Germline and Somatic Analyses in 7632 Cancers
Shawn Yost, Elise Ruark, L. Alexandrov, N. Rahman
2019JNCI Cancer Spectrum17 citations Open access
Semantic Scholar
corr igenda Corrigendum : A genome-wide association study identifies susceptibility loci for Wilms tumor
C. Turnbull, Elizabeth R. Perdeaux, D. Pernet, A. Naranjo +28 more
201313 citations
Semantic Scholar
Erratum: Multisystem Lewy body disease and the other parkinsonian disorders
S. Mahamdallie, S. Hanks, Kristen L. Karlin, Anna Zachariou +21 more
2016Nature Genetics12 citations Open access
Semantic Scholar
OpEx - a validated, automated pipeline optimised for clinical exome sequence analysis
Elise Ruark, Márton Münz, M. Clarke, A. Renwick +5 more
2016Scientific Reports10 citations Open access
Semantic Scholar
The Quality Sequencing Minimum (QSM): providing comprehensive, consistent, transparent next generation sequencing data quality assurance
S. Mahamdallie, Elise Ruark, Shawn Yost, Márton Münz +5 more
2018Wellcome Open Research7 citations Open access
Semantic Scholar
CoverView: a sequence quality evaluation tool for next generation sequencing data
Márton Münz, S. Mahamdallie, Shawn Yost, A. Rimmer +5 more
2018Wellcome Open Research5 citations Open access
Semantic Scholar
Resolving the full spectrum of human genome variation using Linked-Reads
P. Marks, Sarah Garcia, A. M. Barrio, K. Belhocine +33 more
2019Genome Research4 citations Open access
Semantic Scholar
The ICR639 CPG NGS validation series: A resource to assess analytical sensitivity of cancer predisposition gene testing
S. Mahamdallie, Elise Ruark, Esty Holt, E. Poyastro-Pearson +4 more
2018Wellcome Open Research4 citations Open access
Semantic Scholar
The ICR142 NGS validation series: a resource for orthogonal assessment of NGS analysis
Elise Ruark, A. Renwick, M. Clarke, K. Snape +6 more
2016F1000Research4 citations Open access
Semantic Scholar
Correction: Germline mutations in the oncogene EZH2 cause Weaver syndrome and increased human height
K. Tatton-Brown, S. Hanks, Elise Ruark, Anna Zachariou +23 more
2018OncoTarget3 citations Open access
Semantic Scholar
Corrigendum: Mutations in the PP2A regulatory subunit B family genes PPP2R5B, PPP2R5C and PPP2R5D cause human overgrowth
C. Loveday, K. Tatton-Brown, M. Clarke, I. Westwood +11 more
2019Human Molecular Genetics1 citations Open access
Semantic Scholar
Corrigendum: Mutations in the DNA methyltransferase gene DNMT3A cause an overgrowth syndrome with intellectual disability
K. Tatton-Brown, S. Seal, Elise Ruark, J. Harmer +19 more
2014Nature Genetics1 citations Open access
Semantic Scholar
A genome-wide association study identifies susceptibility loci for Wilms tumor
C. Turnbull, Elizabeth R. Perdeaux, D. Pernet, A. Naranjo +28 more
2012Nature Genetics1 citations Open access
Semantic Scholar
Accurate clinical detection of exon copy number variants in a targeted NGS panel using DECoN [version 1; peer review: 2 approved
Anna Fowler, S. Mahamdallie, Elise Ruark, S. Seal +7 more
20220 citations
Semantic Scholar
ICR142 Benchmarker: evaluating, optimising and benchmarking variant calling using the ICR142 NGS validation series [version 1; peer review: 2 approved with reservations]
Elise Ruark, Esty Holt, A. Renwick, Márton Münz +5 more
20210 citations
Semantic Scholar
The Quality Sequencing Minimum (QSM): providing comprehensive, consistent, transparent next generation sequencing data quality assurance [version 1; peer review: 2 approved, 1 approved with reservations]
S. Mahamdallie, Elise Ruark, Shawn Yost, Márton Münz +5 more
20210 citations
Semantic Scholar
Previously titled: ICR142 Benchmarker: evaluating, optimising and benchmarking variant calling using the ICR142 NGS validation series
Elise Ruark, Esty Holt, A. Renwick, Márton Münz +5 more
20180 citations
Semantic Scholar
ICR142 Benchmarker: evaluating, optimising and benchmarking variant calling performance using the ICR142 NGS validation series
Elise Ruark, Esty Holt, A. Renwick, Márton Münz +5 more
2018Wellcome Open Research0 citations Open access
Semantic Scholar
Clinical Annotation Reference Templates: a resource for consistent variant annotation
Shawn Yost, Márton Münz, S. Mahamdallie, A. Renwick +2 more
2018Wellcome Open Research0 citations Open access
Semantic Scholar
Mutations in the transcriptional repressor REST predispose to Wilms tumor (vol 47, pg 1471, 2015)
S. Mahamdallie, S. Hanks, Kristen L. Karlin, Anna Zachariou +20 more
20160 citations
Semantic Scholar
The ICR 142 NGS validation series : a resource for orthogonal assessment of NGS analysis [ version 1 ; referees : awaiting peer review ]
Elise Ruark, A. Renwick, M. Clarke, K. Snape +6 more
20160 citations
Semantic Scholar
A genome-wide association study identifies susceptibility loci for Wilms tumor
C. Turnbull, Elizabeth R. Perdeaux, D. Pernet, A. Naranjo +28 more
2013Nature Genetics0 citations Open access
Semantic Scholar
Edinburgh Research Explorer Mutations in CEP57 cause mosaic variegated aneuploidy syndrome
K. Snape, S. Hanks, Elise Ruark, Patricio Barros-Nú ň ez +17 more
0 citations
Semantic Scholar

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