Nazneen Rahman

发表

[Table, GeneReview Scope].

Katrina Tatton-Brown, Nazneen Rahman, 2014 .

An interlaboratory study of complex variant detection

Marc L. Salit, Eric W. Klee, Nazneen Rahman, 2017, bioRxiv.

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

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

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.

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.

Clinical Annotation Reference Templates (CARTs)

Nazneen Rahman, 2018 .

Resolving the Full Spectrum of Human Genome Variation using Linked-Reads

Deanna M. Church, Nazneen Rahman, Andrew Wei Xu, 2017, bioRxiv.

Clinical Annotation Reference Templates: a resource for consistent variant annotation

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

Carboplatin in BRCA1/2-mutated and triple-negative breast cancer BRCAness subgroups: the TNT Trial

Paul Ellis, Nazneen Rahman, Alexander Gutin, 2018, Nature Medicine.

Evidence for a familial Wilms' tumour gene (FWT1) on chromosome 17q12–q21

Nazneen Rahman, Michael R. Stratton, Jerry Pelletier, 1996, Nature Genetics.

CHEK2*1100delC and susceptibility to breast cancer: a collaborative analysis involving 10,860 breast cancer cases and 9,065 controls from 10 studies.

Nazneen Rahman, Michael Bremer, Julian Peto, 2004, American journal of human genetics.

Genome-Wide Meta-Analyses of Breast, Ovarian, and Prostate Cancer Association Studies Identify Multiple New Susceptibility Loci Shared by at Least Two Cancer Types.

Peter Kraft, Todd L Edwards, Nazneen Rahman, 2016, Cancer discovery.

Identification of Novel Genetic Markers of Breast Cancer Survival

Peter Kraft, Nazneen Rahman, Janet A. Dunn, 2015, Journal of the National Cancer Institute.

Genetic predisposition to neuroblastoma mediated by a LMO1 super-enhancer polymorphism

Andrew C. Wood, Nazneen Rahman, Sharon J. Diskin, 2015, Nature.

Human Chromosome 7: DNA Sequence and Biology

Junjun Zhang, Nazneen Rahman, Alexander K. Hudek, 2003, Science.

Identification of ten variants associated with risk of estrogen-receptor-negative breast cancer

Michael Jones, Peter Kraft, Arnaud Droit, 2017, Nature Genetics.

Realizing the promise of cancer predisposition genes

Nazneen Rahman, N. Rahman, 2014, Nature.

Characterising the loss-of-function impact of 5’ untranslated region variants in 15,708 individuals

Tariq Ahmad, Patrick F. Sullivan, Andres Metspalu, 2020, Nature Communications.

Mutation of the RAD51C gene in a Fanconi anemia–like disorder

Franca Fraternali, Nazneen Rahman, Christopher G Mathew, 2010, Nature Genetics.

A Genome-wide Association Study of Early-Onset Breast Cancer Identifies PFKM as a Novel Breast Cancer Gene and Supports a Common Genetic Spectrum for Breast Cancer at Any Age

Jianxin Shi, Daniel F. Schmidt, Nazneen Rahman, 2014, Cancer Epidemiology, Biomarkers & Prevention.

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

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

Genomic variant sharing: a position statement

Nazneen Rahman, Caroline F Wright, James S Ware, 2019, Wellcome open research.

Low-penetrance susceptibility to breast cancer due to CHEK2*1100delC in noncarriers of BRCA1 or BRCA2 mutations

Nazneen Rahman, Carel Meijers, Julian Peto, 2002, Nature Genetics.

Epigenetic inactivation of the Sotos overgrowth syndrome gene histone methyltransferase NSD1 in human neuroblastoma and glioma

Miguel Alaminos, Nazneen Rahman, Manel Esteller, 2009, Proceedings of the National Academy of Sciences.

The emerging landscape of breast cancer susceptibility

Nazneen Rahman, Michael R Stratton, M. Stratton, 2007, Nature Genetics.

Characterizing genetic variants for clinical action

Kensaku Kawamoto, Nazneen Rahman, Elaine Lyon, 2014, American journal of medical genetics. Part C, Seminars in medical genetics.

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.

Integrative genomics identifies LMO1 as a neuroblastoma oncogene

Nazneen Rahman, Sharon J. Diskin, John M. Maris, 2011, Nature.

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

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

Gene-panel sequencing and the prediction of breast-cancer risk.

Nazneen Rahman, Peter Devilee, Alfons Meindl, 2015, The New England journal of medicine.

Common variations in BARD1 influence susceptibility to high-risk neuroblastoma

Nazneen Rahman, Sharon J. Diskin, John M. Maris, 2009, Nature Genetics.

Breast-cancer risk in families with mutations in PALB2.

Nazneen Rahman, Katri Pylkäs, Arto Mannermaa, 2014, The New England journal of medicine.

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.

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

Katrina Tatton-Brown, Nazneen Rahman, Elise Ruark, 2014, Nature Genetics.

Genome-wide association analysis of more than 120,000 individuals identifies 15 new susceptibility loci for breast cancer

Patrick Neven, Peter Kraft, Nazneen Rahman, 2015 .

Cross-Cancer Genome-Wide Analysis of Lung, Ovary, Breast, Prostate, and Colorectal Cancer Reveals Novel Pleiotropic Associations.

Steven Gallinger, Peter Kraft, Nazneen Rahman, 2016, Cancer research.

Genetic predisposition to breast cancer: past, present, and future.

Nazneen Rahman, Clare Turnbull, N. Rahman, 2008, Annual review of genomics and human genetics.

Variants in CHEK2 other than 1100delC do not make a major contribution to breast cancer susceptibility.

Nazneen Rahman, Carel Meijers, Sheila Seal, 2003, American journal of human genetics.

Genome-wide association studies identify four ER negative–specific breast cancer risk loci

Patrick Neven, Michael Jones, Wei Lu, 2013, Nature Genetics.

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

Katrina Tatton-Brown, Nazneen Rahman, Elise Ruark, 2011, Oncotarget.

A genome-wide association study of testicular germ cell tumor

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

Evaluation of Cancer-Based Criteria for Use in Mainstream BRCA1 and BRCA2 Genetic Testing in Patients With Breast Cancer

Nazneen Rahman, Shazia Mahamdallie, Shawn Yost, 2019, JAMA network open.

Mammographic breast density and breast cancer: evidence of a shared genetic basis.

Nazneen Rahman, Kyriaki Michailidou, Kamila Czene, 2012, Cancer research.

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

Nazneen Rahman, Anna Fowler, Gerton Lunter, 2016, Wellcome open research.

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

Nazneen Rahman, Julian Peto, Rosalind Eeles, 2013, 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.

Meta-analysis identifies four new loci associated with testicular germ cell tumor

Nazneen Rahman, Fredrick R. Schumacher, Stephen J. Chanock, 2013, Nature Genetics.

Chromosome 6p22 locus associated with clinically aggressive neuroblastoma.

Nazneen Rahman, Joseph T. Glessner, Hakon Hakonarson, 2008, The New England journal of medicine.

Corrigendum: Realizing the promise of cancer predisposition genes

Nazneen Rahman, 2014, 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.

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

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

Generation of trisomies in cancer cells by multipolar mitosis and incomplete cytokinesis

Nazneen Rahman, Johan Persson, Sandra Hanks, 2010, Proceedings of the National Academy of Sciences.

Localisation of the gene for distal Hereditary Motor Neuronopathy-VII to chromosome 2

Nazneen Rahman, Nazneen Rahman, Henry Houlden, 2000 .

Genome-wide association analysis identifies three new breast cancer susceptibility loci

Michael Jones, Nazneen Rahman, Daniel J. Park, 2012, Nature Genetics.

Stratification of Wilms tumor by genetic and epigenetic analysis

Nazneen Rahman, Neil J. Sebire, Kathy Pritchard-Jones, 2012, Oncotarget.

Germline mutations in RAD51D confer susceptibility to ovarian cancer

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

Characterising the loss-of-function impact of 5’ untranslated region variants in 15,708 individuals

Tariq Ahmad, Patrick F. Sullivan, Andres Metspalu, 2019, bioRxiv.

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

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