Rahman, Nazneen

The mutational constraint spectrum quantified from variation in 141,456 humans

Karczewski, K. J., Francioli, L. C., Tiao, G., Cummings, B. B., Alföldi, J., Wang, Q., Collins, R. L., Laricchia, K. M., Ganna, A., Birnbaum, D. P., et al. (2020) · Nature

Genomics and Rare DiseasesGenetic Associations and Epidemiology

Cited by 9,434

A census of human cancer genes

Futreal, P. A., Coin, L., Marshall, M., Down, T., Hubbard, T., Wooster, R., Rahman, N., & Stratton, M. R. (2004) · Nature Reviews Cancer

Cancer Genomics and DiagnosticsCancer-related Molecular Pathways

Cited by 3,184

Genome-wide association study identifies novel breast cancer susceptibility loci

Easton, D. F., Pooley, K. A., Dunning, A. M., Pharoah, P. D. P., Thompson, D., Ballinger, D. G., Struewing, J. P., Morrison, J., Field, H., Luben, R., et al. (2007) · Nature

Genetic Associations and EpidemiologyBRCA gene mutations in cancer

Cited by 2,319

A genomic mutational constraint map using variation in 76,156 human genomes

Chen, S., Francioli, L. C., Goodrich, J. K., Collins, R. L., Kanai, M., Wang, Q., Alföldi, J., Watts, N. A., Vittal, C., Gauthier, L. D., et al. (2024) · Nature

Genomics and Rare DiseasesGenetic Associations and Epidemiology

Cited by 1,727

Modeling Linkage Disequilibrium Increases Accuracy of Polygenic Risk Scores

Vilhjálmsson, B. J., Yang, J., Finucane, H. K., Gusev, A., Lindström, S., Ripke, S., Genovese, G., Loh, P.-R., Bhatia, G., Do, R., et al. (2015) · The American Journal of Human Genetics

Genetic Associations and EpidemiologyGenetic Mapping and Diversity in Plants and Animals

Cited by 1,303

A structural variation reference for medical and population genetics

Collins, R. L., Brand, H., Karczewski, K. J., Zhao, X., Alföldi, J., Francioli, L. C., Khera, A. V., Lowther, C., Gauthier, L. D., Wang, H., et al. (2020) · Nature

Genomic variations and chromosomal abnormalitiesGenomics and Rare Diseases

Cited by 1,037

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

The Breast Cancer Susceptibility Collaboration (UK), Seal, S., Thompson, D., Renwick, A., Elliott, A., Kelly, P., Barfoot, R., Chagtai, T., Jayatilake, H., Ahmed, M., et al. (2006) · Nature Genetics

BRCA gene mutations in cancerDNA Repair Mechanisms

Cited by 746

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

The Breast Cancer Susceptibility Collaboration (UK), Turnbull, C., Ahmed, S., Morrison, J., Pernet, D., Renwick, A., Maranian, M., Seal, S., Ghoussaini, M., Hines, S., et al. (2010) · Nature Genetics

Genetic Associations and EpidemiologyBRCA gene mutations in cancer

Cited by 687

Biallelic mutations in PALB2 cause Fanconi anemia subtype FA-N and predispose to childhood cancer

Reid, S., Schindler, D., Hanenberg, H., Barker, K., Hanks, S., Kalb, R., Neveling, K., Kelly, P., Seal, S., Freund, M., et al. (2007) · Nature Genetics

DNA Repair MechanismsBRCA gene mutations in cancer

Cited by 642

The emerging landscape of breast cancer susceptibility

Stratton, M. R., & Rahman, N. (2008) · Nature Genetics

BRCA gene mutations in cancerGenetic Associations and Epidemiology

Cited by 487

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

Vaz, F., Hanenberg, H., Schuster, B., Barker, K., Wiek, C., Erven, V., Neveling, K., Endt, D., Kesterton, I., Autore, F., et al. (2010) · Nature Genetics

DNA Repair MechanismsBlood disorders and treatments

Cited by 408

A novel HER2-positive breast cancer phenotype arising from germline TP53 mutations: Table 1

Wilson, J. R. F., Bateman, A. C., Hanson, H., An, Q., Evans, G., Rahman, N., Jones, J. L., & Eccles, D. M. (2010) · Journal of Medical Genetics

BRCA gene mutations in cancerBreast Lesions and Carcinomas

Cited by 122

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

Loveday, C., Tatton-Brown, K., Clarke, M., Westwood, I., Renwick, A., Ramsay, E., Nemeth, A., Campbell, J., Joss, S., Gardner, M., et al. (2015) · Human Molecular Genetics

Genomics and Rare DiseasesGenetics and Neurodevelopmental Disorders

Cited by 87

Body mass index and breast cancer survival: a Mendelian randomization analysis

Guo, Q., Burgess, S., Turman, C., Bolla, M. K., Wang, Q., Lush, M., Abraham, J., Aittomäki, K., Andrulis, I. L., Apicella, C., et al. (2017) · International Journal of Epidemiology

Cancer Risks and FactorsGenetic Associations and Epidemiology

Cited by 64

Ehlers-Danlos Syndrome with Severe Early-Onset Periodontal Disease (EDS-VIII) Is a Distinct, Heterogeneous Disorder with One Predisposition Gene at Chromosome 12p13

Rahman, N., Dunstan, M., Teare, M. D., Hanks, S., Douglas, J., Coleman, K., Bottomly, W. E., Campbell, M. E., Berglund, B., Nordenskjöld, M., et al. (2003) · The American Journal of Human Genetics

Connective tissue disorders researchOral microbiology and periodontitis research

Cited by 55