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Elise Ruark
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Germline mutations in RAD51D confer susceptibility to ovarian cancer
C Loveday, C Turnbull, E Ramsay, D Hughes, E Ruark, JR Frankum, ...
Nature genetics 43 (9), 879-882, 2011
6022011
Mutations in the DNA methyltransferase gene DNMT3A cause an overgrowth syndrome with intellectual disability
K Tatton-Brown, S Seal, E Ruark, J Harmer, E Ramsay, ...
Nature genetics 46 (4), 385-388, 2014
3372014
Germline RAD51C mutations confer susceptibility to ovarian cancer
C Loveday, C Turnbull, E Ruark, RMM Xicola, E Ramsay, D Hughes, ...
Nature genetics 44 (5), 475-476, 2012
2922012
Mosaic PPM1D mutations are associated with predisposition to breast and ovarian cancer
E Ruark, K Snape, P Humburg, C Loveday, I Bajrami, R Brough, ...
Nature 493 (7432), 406-410, 2013
2702013
Implementing rapid, robust, cost-effective, patient-centred, routine genetic testing in ovarian cancer patients
A George, D Riddell, S Seal, S Talukdar, S Mahamdallie, E Ruark, ...
Scientific Reports 6, 2016
2092016
Resolving the Full Spectrum of Human Genome Variation using Linked-Reads
P Marks, S Garcia, AM Barrio, K Belhocine, J Bernate, R Bharadwaj, ...
bioRxiv, 230946, 2017
2022017
Mutations in Epigenetic Regulation Genes Are a Major Cause of Overgrowth with Intellectual Disability
K Tatton-Brown, C Loveday, S Yost, M Clarke, E Ramsay, A Zachariou, ...
The American Journal of Human Genetics 100 (5), 725-736, 2017
2002017
Germline mutations in the oncogene EZH2 cause Weaver syndrome and increased human height
K Tatton-Brown, S Hanks, E Ruark, A Zachariou, SDV Duarte, E Ramsay, ...
Oncotarget 2 (12), 1127-1133, 2011
1752011
Identification of nine new susceptibility loci for testicular cancer, including variants near DAZL and PRDM14
E Ruark, S Seal, H McDonald, F Zhang, A Elliot, KW Lau, E Perdeaux, ...
Nature genetics 45 (6), 686-689, 2013
1622013
Mutations in CEP57 cause mosaic variegated aneuploidy syndrome
K Snape, S Hanks, E Ruark, P Barros-Núñez, A Elliott, A Murray, AH Lane, ...
Nature genetics 43 (6), 527-529, 2011
1442011
Biallelic TRIP13 mutations predispose to Wilms tumor and chromosome missegregation
S Yost, B de Wolf, S Hanks, A Zachariou, C Marcozzi, M Clarke, ...
Nature Genetics, 2017
1272017
Germline mutations in the PAF1 complex gene CTR9 predispose to Wilms tumour
S Hanks, ER Perdeaux, S Seal, E Ruark, SS Mahamdallie, A Murray, ...
Nature communications 5, 2014
1062014
Identification of new Wilms tumour predisposition genes: an exome sequencing study
S Mahamdallie, S Yost, E Poyastro-Pearson, E Holt, A Zachariou, S Seal, ...
The Lancet Child & Adolescent Health, 2019
972019
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, A Renwick, E Ramsay, ...
Human molecular genetics 24 (17), 4775-4779, 2015
972015
Accurate clinical detection of exon copy number variants in a targeted NGS panel using DECoN
A Fowler, S Mahamdallie, E Ruark, S Seal, E Ramsay, M Clarke, I Uddin, ...
Wellcome Open Research 1, 2016
942016
Predisposition gene identification in common cancers by exome sequencing: insights from familial breast cancer
K Snape, E Ruark, P Tarpey, A Renwick, C Turnbull, S Seal, A Murray, ...
Breast cancer research and treatment 134 (1), 429-433, 2012
752012
A genome-wide association study identifies susceptibility loci for Wilms tumor
C Turnbull, ER Perdeaux, D Pernet, A Naranjo, A Renwick, S Seal, ...
Nature genetics 44 (6), 681-684, 2012
732012
Mutations in the transcriptional repressor REST predispose to Wilms tumor
SS Mahamdallie, S Hanks, KL Karlin, A Zachariou, ER Perdeaux, E Ruark, ...
Nature genetics 47 (12), 1471-1474, 2015
662015
CSN and CAVA: variant annotation tools for rapid, robust next-generation sequencing analysis in the clinical setting
M Münz, E Ruark, A Renwick, E Ramsay, M Clarke, S Mahamdallie, ...
Genome Med 7 (1), 76, 2015
632015
The ICR1000 UK exome series: a resource of gene variation in an outbred population
E Ruark, M Münz, A Renwick, M Clarke, E Ramsay, S Hanks, ...
F1000Research 4, 2015
262015
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Artikelen 1–20