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2019
Mark Large scale multifactorial likelihood quantitative analysis of BRCA1 and BRCA2 variants : An ENIGMA resource to support clinical variant classification
Parsons, Michael T ; Tudini, Emma ; Li, Hongyan ; Hahnen, Eric ; Wappenschmidt, Barbara ; Feliubadaló, Lidia ; Aalfs, Cora M ; Agata, Simona ; Aittomäki, Kristiina and Alducci, Elisa , et al. (2019) In Human Mutation p.1557-1578
- Contribution to journal › Article
2018
Mark The BRCA1 c. 5096G>A p.Arg1699Gln (R1699Q) intermediate risk variant : Breast and ovarian cancer risk estimation and recommendations for clinical management from the ENIGMA consortium
Moghadasi, Setareh ; Meeks, Huong D. ; Vreeswijk, Maaike P G ; Janssen, Linda A.M. ; Borg, Åke ^LU ; Ehrencrona, Hans ^LU ; Paulsson-Karlsson, Ylva ; Wappenschmidt, Barbara ; Engel, Christoph and Gehrig, Andrea , et al. (2018) In Journal of Medical Genetics 55(1). p.15-20
- Contribution to journal › Article
Mark Mutational spectrum in a worldwide study of 29,700 families with BRCA1 or BRCA2 mutations
Rebbeck, Timothy R. ; Friebel, Tara M. ; Friedman, Eitan ; Hamann, Ute ; Huo, Dezheng ; Kwong, Ava ; Olah, Edith ; Olopade, Olufunmilayo I. ; Solano, Angela R. and Teo, Soo Hwang , et al. (2018) In Human Mutation 39(5). p.593-620
- Contribution to journal › Article