A. Renwick

发表

Prediction of Breast Cancer Risk Based on Profiling With Common Genetic Variants

Jane E. Carpenter, Jaana M. Hartikainen, Sandra L. Halverson, 2015, JNCI Journal of the National Cancer Institute.

PALB2, which encodes a BRCA2-interacting protein, is a breast cancer susceptibility gene

S. Seal, M. Stratton, N. Rahman, 2007, Nature Genetics.

Genome-wide association study of copy number variation in 16,000 cases of eight common diseases and 3,000 shared controls

Jake K. Byrnes, Tomas W. Fitzgerald, P. Donnelly, 2010, Nature.

A common coding variant in CASP8 is associated with breast cancer risk

Jaana M. Hartikainen, S. Seal, M. Stratton, 2007, Nature Genetics.

Comparative performances of machine learning methods for classifying Crohn Disease patients using genome-wide genotyping data

Judy H. Cho, John P. Ferguson, G. Wainrib, 2019, Scientific Reports.

ATM mutations that cause ataxia-telangiectasia are breast cancer susceptibility alleles

Nazneen Rahman, Michael R. Stratton, Douglas F. Easton, 2006, Nature Genetics.

Truncating mutations in the Fanconi anemia J gene BRIP1 are low-penetrance breast cancer susceptibility alleles

Nazneen Rahman, Michael R. Stratton, Douglas F. Easton, 2006, Nature Genetics.

Evaluation of RAD50 in familial breast cancer predisposition

Päivi Heikkilä, Jiri Bartek, Nazneen Rahman, 2006, International journal of cancer.

Exploring the link between MORF4L1 and risk of breast cancer

S. Seal, N. Rahman, F. Couch, 2011, Breast Cancer Research.

The Tatton-Brown-Rahman Syndrome: A clinical study of 55 individuals with de novo constitutive DNMT3A variants

N. Rahman, D. Baralle, C. Mercer, 2018, Wellcome open research.

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

S. Seal, N. Rahman, A. Renwick, 2016, F1000Research.

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

S. Seal, N. Rahman, A. Renwick, 2018, F1000Research.

The ICR 142 NGS validation series : a resource for orthogonal assessment of NGS analysis [ version 1 ; referees : awaiting peer review ]

S. Seal, N. Rahman, A. Renwick, 2016 .

Exploring the link between MORF4L1 and risk of breast cancer

S. Seal, N. Rahman, F. Couch, 2011 .

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

N. Rahman, A. Renwick, Elise Ruark, 2015, Human molecular genetics.

Mutations in the PP 2 A regulatory subunit B family genes PPP 2 R 5 B , PPP 2 R 5 C and PPP 2 R 5 D cause human overgrowth

N. Rahman, A. Renwick, Elise Ruark, 2015 .

Comparison of 6q25 Breast Cancer Hits from Asian and European Genome Wide Association Studies in the Breast Cancer Association Consortium (BCAC)

Patrick Neven, Hui Zhao, Nazneen Rahman, 2012, PloS one.

Correction: Comparison of 6q25 Breast Cancer Hits from Asian and European Genome Wide Association Studies in the Breast Cancer Association Consortium (BCAC)

Daniel J. Park, S. Cross, M. Beckmann, 2012, PLoS ONE.

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

Panagiotis, P. Donnelly, M. McCarthy, 2018 .

Mutation and association analysis of in breast cancer susceptibility

S. Seal, M. Stratton, N. Rahman, 2020 .

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

S. Seal, N. Rahman, A. Naranjo, 2012, Nature Genetics.

Confirmation of 5p12 As a Susceptibility Locus for Progesterone-Receptor–Positive, Lower Grade Breast Cancer

S. Cross, M. Beckmann, P. Fasching, 2011, Cancer Epidemiology, Biomarkers & Prevention.

TO JMG Biallelic BRCA 2 mutations are associated with multiple malignancies in childhood including familial Wilms tumour

S. Seal, M. Stratton, A. Renwick, 2005 .

Variants near DMRT1, TERT and ATF7IP are associated with testicular germ cell cancer

Deborah Hughes, Nazneen Rahman, Panagiotis Deloukas, 2010, Nature Genetics.

A genome-wide association study of testicular germ cell tumor

Deborah Hughes, Nazneen Rahman, Panagiotis Deloukas, 2009, Nature Genetics.

Whole-exome sequencing reveals the mutational spectrum of testicular germ cell tumours

S. Seal, R. Huddart, P. Broderick, 2015, Nature Communications.

Multi-stage genome-wide association study identifies new susceptibility locus for testicular germ cell tumour on chromosome 3q25.

S. Seal, M. Stratton, N. Rahman, 2015, Human molecular genetics.

Mutation and association analysis of GEN1 in breast cancer susceptibility

S. Seal, M. Stratton, N. Rahman, 2010, Breast Cancer Research and Treatment.

Comparative performances of machine learning methods for classifying Crohn Disease patients using genome-wide genotyping data

Judy H. Cho, John P. Ferguson, G. Wainrib, 2019, Scientific Reports.

Germline RAD51C mutations confer susceptibility to ovarian cancer

S. Seal, N. Rahman, A. Antoniou, 2012, Nature Genetics.

Germline mutations in RAD51D confer susceptibility to ovarian cancer

Deborah Hughes, Nazneen Rahman, Elise Ruark, 2011, Nature Genetics.

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.

Michael Jones, Nazneen Rahman, Michael Bremer, 2011, Human molecular genetics.

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

S. Seal, N. Rahman, A. Naranjo, 2012, Nature Genetics.

Genome-wide association study identifies five new breast cancer susceptibility loci

Deborah Hughes, Nazneen Rahman, William Tapper, 2010, Nature Genetics.

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

C. Shaw, S. Seal, N. Rahman, 2016, Nature Genetics.

Mutations in the transcriptional repressor REST predispose to Wilms tumor

C. Shaw, S. Seal, N. Rahman, 2015, Nature Genetics.

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

Shazia Mahamdallie, Elise Ruark, Anthony Renwick, 2018, Wellcome open research.

Risk of estrogen receptor-positive and -negative breast cancer and single-nucleotide polymorphism 2q35-rs13387042.

M. Beckmann, P. Fasching, N. Rahman, 2009, Journal of the National Cancer Institute.

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

Nazneen Rahman, Gerton Lunter, Shazia Mahamdallie, 2015, Genome Medicine.

Breast Cancer Risk and 6q22.33: Combined Results from Breast Cancer Association Consortium and Consortium of Investigators on Modifiers of BRCA1/2

S. Seal, N. Rahman, D. Noh, 2012, PloS one.

Breast Cancer Risk and 6 q 22 . 33 : Combined Results from Breast Cancer Association Consortium and Consortium of Investigators on Modifiers of BRCA 1 / 2

S. Seal, N. Rahman, D. Noh, 2012 .

Evaluation of Fanconi Anemia genes in familial breast cancer predisposition.

S. Seal, M. Stratton, N. Rahman, 2003, Cancer research.

Biallelic BRCA2 mutations are associated with multiple malignancies in childhood including familial Wilms tumour

S. Seal, M. Stratton, N. Rahman, 2005, Journal of Medical Genetics.

Evidence of a founder BRCA1 mutation in Scotland

M. King, O. Olopade, A. Renwick, 2000, British Journal of Cancer.

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

Peter Donnelly, Mark I. McCarthy, Nazneen Rahman, 2012, Nature.

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

Nazneen Rahman, Elise Ruark, Anthony Renwick, 2012, Breast Cancer Research and Treatment.

A Multicenter Study of Cancer Incidence in CHEK2 1100delC Mutation Carriers

S. Seal, M. Stratton, N. Rahman, 2006, Cancer Epidemiology Biomarkers & Prevention.

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

Nazneen Rahman, Shazia Mahamdallie, Elise Ruark, 2018, Wellcome open research.

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

N. Rahman, S. Ellard, A. Renwick, 2018, Wellcome Open Research.

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

S. Seal, N. Rahman, A. Renwick, 2017, Wellcome Open Research.

Gene-gene interactions in breast cancer susceptibility.

Deborah Hughes, Peter Donnelly, Jonathan Berg, 2012, Human molecular genetics.

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

Nazneen Rahman, Gerton Lunter, Elise Ruark, 2016, Scientific Reports.

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

S. Seal, N. Rahman, A. Naranjo, 2012, Nature Genetics.

Clinical Annotation Reference Templates: a resource for consistent variant annotation

Nazneen Rahman, Shazia Mahamdallie, Elise Ruark, 2018, Wellcome Open Research.

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

S. Seal, N. Rahman, G. Lunter, 2015, Genome Medicine.

Comparative performances of machine learning methods for classifying Crohn Disease patients using genome-wide genotyping data

Lisa, Husam, John P. Ferguson, 2023 .

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

S. Seal, N. Rahman, A. Renwick, 2015, F1000Research.

The Tatton-Brown-Rahman Syndrome: A clinical study of 55 individuals with de novo constitutive DNMT3A variants

N. Rahman, D. Baralle, C. Mercer, 2018, Wellcome open research.

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

S. Seal, N. Rahman, A. Renwick, 2016, F1000Research.

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

Shazia Mahamdallie, Elise Ruark, Shawn Yost, 2018, Wellcome open research.

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. Seal, N. Rahman, A. Renwick, 2021 .

Multi-stage genome-wide association study identifies new susceptibility locus for testicular germ cell tumour on chromosome 3q25.

S. Seal, M. Stratton, N. Rahman, 2015, Human molecular genetics.

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

N. Rahman, S. Ellard, A. Renwick, 2018, Wellcome open research.

ICR142 Benchmarker: evaluating, optimising and benchmarking variant calling using the ICR142 NGS validation series [version 1; peer review: 2 approved with reservations]

N. Rahman, S. Ellard, A. Renwick, 2021 .

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

A. Renwick, Esty Holt, S. Mahamdallie, 2018 .