Items where authors include "Tischkowitz, M"

Article

Loong, L, Huntley, C, McRonald, F et al. (48 more authors) (2022) Germline mismatch repair (MMR) gene analyses from English NHS regional molecular genomics laboratories 1996–2020: development of a national resource of patient-level genomics laboratory records. Journal of Medical Genetics (JMG). ISSN 0022-2593

Feng, H, Gusev, A, Pasaniuc, B et al. (249 more authors) (2020) Transcriptome‐wide association study of breast cancer risk by estrogen‐receptor status. Genetic Epidemiology, 44 (5). pp. 442-468. ISSN 0741-0395

Zhang, H, Ahearn, TU, Lecarpentier, J et al. (269 more authors) (2020) Genome-wide association study identifies 32 novel breast cancer susceptibility loci from overall and subtype-specific analyses. Nature Genetics, 52 (6). pp. 572-581. ISSN 1061-4036

Fachal, L, Aschard, H, Beesley, J et al. (338 more authors) (2020) Fine-mapping of 150 breast cancer risk regions identifies 191 likely target genes. Nature Genetics, 52 (1). pp. 56-73. ISSN 1061-4036

Wei, W, Tuna, S, Keogh, MJ et al. (426 more authors) (2019) Germline selection shapes human mitochondrial DNA diversity. Science, 364 (6442). 749-+. ISSN 0036-8075

Jiang, X, Finucane, HK orcid.org/0000-0003-3864-9828, Schumacher, FR orcid.org/0000-0002-3073-7463 et al. (330 more authors) (2019) Shared heritability and functional enrichment across six solid cancers. Nature Communications, 10. 431. ISSN 2041-1723

Whitworth, J, Smith, PS, Martin, J-E et al. (330 more authors) (2018) Comprehensive cancer-predisposition gene testing in an adult multiple primary tumor series shows a broad range of deleterious variants and atypical tumor phenotypes. The American Journal of Human Genetics, 103 (1). pp. 3-18. ISSN 0002-9297

McRae, JF, Clayton, S, Fitzgerald, TW et al. (299 more authors) (2017) Prevalence and architecture of de novo mutations in developmental disorders. Nature, 542. pp. 433-438. ISSN 0028-0836

Plaskocinska, I, Shipman, H, Drummond, J et al. (26 more authors) (2016) New paradigms for BRCA1/BRCA2 testing in women with ovarian cancer: results of the Genetic Testing in Epithelial Ovarian Cancer (GTEOC) study. Journal of Medical Genetics, 53 (10). pp. 655-661. ISSN 0022-2593

McRae, JF, Clayton, S, Fitzgerald, TW et al. (298 more authors) (2016) Prevalence, phenotype and architecture of developmental disorders caused by de novo mutation: The Deciphering Developmental Disorders Study. bioRxiv. (Submitted)

Ratbi, I, Falkenberg, KD, Sommen, M et al. (28 more authors) (2015) Heimler Syndrome is Caused by Hypomorphic Mutations in the Peroxisome-Biogenesis Genes PEX1 and PEX6. American Journal of Human Genetics, 97 (4). pp. 535-545. ISSN 0002-9297