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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
2016
Mark Breast cancer risk variants at 6q25 display different phenotype associations and regulate ESR1, RMND1 and CCDC170.
Dunning, Alison M ; Michailidou, Kyriaki ; Kuchenbaecker, Karoline B ; Thompson, Deborah ; French, Juliet D ; Beesley, Jonathan ; Healey, Catherine S ; Kar, Siddhartha ; Pooley, Karen A and Lopez-Knowles, Elena , et al. (2016) In Nature Genetics
- Contribution to journal › Article
Mark Functional mechanisms underlying pleiotropic risk alleles at the 19p13.1 breast-ovarian cancer susceptibility locus
Lawrenson, Kate ; Kar, Siddhartha ; McCue, Karen ; Kuchenbaeker, Karoline ; Michailidou, Kyriaki ; Tyrer, Jonathan ; Beesley, Jonathan ; Ramus, Susan J. ; Li, Qiyuan and Delgado, Melissa K. , et al. (2016) In Nature Communications 7.
- Contribution to journal › Article

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