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A. Renwick · SciRah

Researcher profile · Semantic Scholar

A. Renwick

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A. Renwick — researcher profile on SciRah

h-index: 31
Works: 58
Citations: 7,717

Most-cited papers

PALB2, which encodes a BRCA2-interacting protein, is a breast cancer susceptibility gene
N. Rahman, S. Seal, Deborah J. Thompson, P. Kelly +13 more
2006Nature Genetics1,052 citations Open access
Semantic Scholar
ATM mutations that cause ataxia-telangiectasia are breast cancer susceptibility alleles
A. Renwick, D. Thompson, S. Seal, P. Kelly +12 more
2006Nature Genetics766 citations
Semantic Scholar
Truncating mutations in the Fanconi anemia J gene BRIP1 are low-penetrance breast cancer susceptibility alleles
S. Seal, D. Thompson, A. Renwick, Anna Elliott +13 more
2006Nature Genetics759 citations
Semantic Scholar
Genome-wide association study identifies five new breast cancer susceptibility loci
C. Turnbull, Shahana Ahmed, J. Morrison, D. Pernet +22 more
2010Nature Genetics725 citations Open access
Semantic Scholar
A common coding variant in CASP8 is associated with breast cancer risk
A. Cox, A. Dunning, M. García-Closas, S. Balasubramanian +75 more
2007Nature Genetics596 citations Open access
Semantic Scholar
Prediction of Breast Cancer Risk Based on Profiling With Common Genetic Variants
N. Mavaddat, P. Pharoah, K. Michailidou, J. Tyrer +208 more
2015JNCI Journal of the National Cancer Institute581 citations Open access
Semantic Scholar
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
Variants near DMRT1, TERT and ATF7IP are associated with testicular germ cell cancer
C. Turnbull, E. Rapley, S. Seal, D. Pernet +11 more
2010Nature Genetics347 citations Open access
Semantic Scholar
A genome-wide association study of testicular germ cell tumor
E. Rapley, C. Turnbull, A. A. Al Olama, E. Dermitzakis +13 more
2009Nature Genetics332 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
Whole-exome sequencing reveals the mutational spectrum of testicular germ cell tumours
K. Litchfield, B. Summersgill, Shawn Yost, R. Sultana +11 more
2015Nature Communications176 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
Biallelic BRCA2 mutations are associated with multiple malignancies in childhood including familial Wilms tumour
S. Reid, A. Renwick, S. Seal, Linda Baskcomb +6 more
2005Journal of Medical Genetics122 citations Open access
Semantic Scholar
Risk of estrogen receptor-positive and -negative breast cancer and single-nucleotide polymorphism 2q35-rs13387042.
R. Milne, J. Benítez, H. Nevanlinna, T. Heikkinen +89 more
2009Journal of the National Cancer Institute118 citations Open access
Semantic Scholar
The Tatton-Brown-Rahman Syndrome: A clinical study of 55 individuals with de novo constitutive DNMT3A variants
K. Tatton-Brown, Anna Zachariou, C. Loveday, A. Renwick +45 more
2018Wellcome Open Research99 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
Comparative performances of machine learning methods for classifying Crohn Disease patients using genome-wide genotyping data
A. Romagnoni, S. Jégou, K. van Steen, G. Wainrib +341 more
2019Scientific Reports88 citations Open access
Semantic Scholar
Associations of common variants at 1p11.2 and 14q24.1 (RAD51L1) with breast cancer risk and heterogeneity by tumor subtype: findings from the Breast Cancer Association Consortium.
J. Figueroa, M. García-Closas, M. Humphreys, R. Platte +141 more
2011Human Molecular Genetics88 citations Open access
Semantic Scholar
Evaluation of Fanconi Anemia genes in familial breast cancer predisposition.
S. Seal, R. Barfoot, H. Jayatilake, Paula L. Smith +8 more
2003Cancer Research74 citations
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
Evaluation of RAD50 in familial breast cancer predisposition
J. Tommiska, S. Seal, A. Renwick, R. Barfoot +15 more
2006International Journal of Cancer68 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
A Multicenter Study of Cancer Incidence in CHEK2 1100delC Mutation Carriers
D. Thompson, S. Seal, M. Schutte, L. McGuffog +16 more
2006Cancer Epidemiology, Biomarkers and Prevention64 citations Open access
Semantic Scholar
Comparison of 6q25 Breast Cancer Hits from Asian and European Genome Wide Association Studies in the Breast Cancer Association Consortium (BCAC)
R. Hein, M. Maranian, J. Hopper, M. Kapuscinski +165 more
2012PLoS ONE58 citations Open access
Semantic Scholar
Gene-gene interactions in breast cancer susceptibility.
C. Turnbull, S. Seal, A. Renwick, M. Warren-Perry +34 more
2012Human Molecular Genetics51 citations Open access
Semantic Scholar
Evidence of a founder BRCA1 mutation in Scotland
A. Liede, B. Cohen, D. M. Black, R. Davidson +13 more
2000British Journal of Cancer35 citations Open access
Semantic Scholar
Confirmation of 5p12 as a susceptibility locus for progesterone-receptor-positive, lower grade breast cancer
R. Milne, E. Goode, M. García-Closas, F. Couch +139 more
2011Cancer Epidemiology, Biomarkers and Prevention33 citations Open access
Semantic Scholar
Multi-stage genome-wide association study identifies new susceptibility locus for testicular germ cell tumour on chromosome 3q25.
K. Litchfield, R. Sultana, A. Renwick, D. Dudakia +17 more
2015Human Molecular Genetics32 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
Exploring the link between MORF4L1 and risk of breast cancer
Griselda Martrat, C. Maxwell, Emiko Tominaga, Montserrat Porta-de-la-Riva +130 more
2011Breast Cancer Research26 citations Open access
Semantic Scholar
Mutation and association analysis of GEN1 in breast cancer susceptibility
C. Turnbull, Sarah Hines, A. Renwick, D. Hughes +8 more
2010Breast Cancer Research and Treatment21 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
Breast Cancer Risk and 6q22.33: Combined Results from Breast Cancer Association Consortium and Consortium of Investigators on Modifiers of BRCA1/2
T. Kirchhoff, M. Gaudet, A. Antoniou, L. McGuffog +126 more
2012PLoS ONE14 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
Corrigendum: A common coding variant in CASP8 is associated with breast cancer risk
A. Cox, A. Dunning, M. García-Closas, S. Balasubramanian +75 more
2007Nature Genetics7 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: Comparison of 6q25 Breast Cancer Hits from Asian and European Genome Wide Association Studies in the Breast Cancer Association Consortium (BCAC)
R. Hein, M. Maranian, J. Hopper, M. Kapuscinski +165 more
2012PLoS ONE4 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
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
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
Mutation and association analysis of in breast cancer susceptibility
C. Turnbull, Sarah Hines, A. Renwick, D. Hughes +9 more
20200 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

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