Items where authors include "Tischkowitz, M."
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Wong, K., Pitcher, D., Braddon, F. et al. (294 more authors) (2024) Effects of rare kidney diseases on kidney failure: a longitudinal analysis of the UK National Registry of Rare Kidney Diseases (RaDaR) cohort. The Lancet, 403 (10433). pp. 1279-1289. ISSN 0140-6736
Allen, S. orcid.org/0000-0003-4928-2240, Loong, L., Garrett, A. orcid.org/0000-0001-8942-283X et al. (34 more authors) (2023) Recommendations for laboratory workflow that better support centralised amalgamation of genomic variant data: findings from CanVIG-UK national molecular laboratory survey. Journal of Medical Genetics. jmg-2023. ISSN 0022-2593
McRae, J.F., Clayton, S., Fitzgerald, T.W. et al. (299 more authors) (2017) Prevalence and architecture of de novo mutations in developmental disorders. Nature, 542 (7642). pp. 433-438. ISSN 0028-0836
Zeng, C., Guo, X., Long, J. et al. (234 more authors) (2016) Identification of independent association signals and putative functional variants for breast cancer risk through fine-scale mapping of the 12p11 locus. Breast Cancer Research, 18 (1). 64. ISSN 1465-542X
Hollestelle, A., van der Baan, F.H., Berchuck, A. et al. (355 more authors) (2016) No clinical utility of KRAS variant rs61764370 for ovarian or breast cancer. Gynecologic Oncology, 141 (2). pp. 386-401. ISSN 0090-8258
Dunning, A.M., Michailidou, K., Kuchenbaecker, K.B. et al. (245 more authors) (2016) Breast cancer risk variants at 6q25 display different phenotype associations and regulate ESR1, RMND1 and CCDC170. Nature Genetics. ISSN 1061-4036
Couch, F.J., Wang, X., McGuffog, L. et al. (267 more authors) (2013) Genome-wide association study in BRCA1 mutation carriers identifies novel loci associated with breast and ovarian cancer risk. PLoS Genetics, 9 (3). e1003212. ISSN 1553-7390
Gaudet, M.M., Kuchenbaecker, K.B., Vijai, J. et al. (129 more authors) (2013) Identification of a BRCA2-Specific Modifier Locus at 6p24 Related to Breast Cancer Risk. PLoS Genetics, 9 (3). e1003173. ISSN 1553-7390