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2022
Mark Clinical, splicing, and functional analysis to classify BRCA2 exon 3 variants : Application of a points-based ACMG/AMP approach
Thomassen, Mads ; Mesman, Romy L.S. ; Hansen, Thomas V.O. ; Menendez, Mireia ; Rossing, Maria ; Esteban-Sánchez, Ada ; Tudini, Emma ; Törngren, Therese ^LU ; Parsons, Michael T. and Pedersen, Inge S. , et al. (2022) In Human Mutation 43(12). p.1921-1944
- Contribution to journal › Article
2019
Mark Comprehensive Assessment of BARD1 Messenger Ribonucleic Acid Splicing With Implications for Variant Classification
Walker, Logan C. ; Lattimore, Vanessa Lilian ; Kvist, Anders ^LU ; Kleiblova, Petra ; Zemankova, Petra ; de Jong, Lucy ; Wiggins, George A.R. ; Hakkaart, Christopher ; Cree, Simone L. and Behar, Raquel , et al. (2019) In Frontiers in Genetics 10.
- Contribution to journal › Article
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 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

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