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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 Targeted RNA-seq successfully identifies normal and pathogenic splicing events in breast/ovarian cancer susceptibility and Lynch syndrome genes
Brandão, Rita D. ; Mensaert, Klaas ; López-Perolio, Irene ; Tserpelis, Demis ; Xenakis, Markos ; Lattimore, Vanessa ; Walker, Logan C. ; Kvist, Anders ^LU ; Vega, Ana and Gutiérrez-Enríquez, Sara , et al. (2019) In International Journal of Cancer 145(2). p.401-414
- Contribution to journal › Article
2018
Mark Computational Tools for Splicing Defect Prediction in Breast/Ovarian Cancer Genes : How Efficient Are They at Predicting RNA Alterations?
Moles-Fernández, Alejandro ; Duran-Lozano, Laura ^LU ; Montalban, Gemma ; Bonache, Sandra ; López-Perolio, Irene ; Menéndez, Mireia ; Santamariña, Marta ; Behar, Raquel ; Blanco, Ana and Carrasco, Estela , et al. (2018) In Frontiers in Genetics 9. p.1-12
- 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
2010
Mark Verification that common variation at 2q37.1, 6p25.3, 11q24.1, 15q23, and 19q13.32 influences chronic lymphocytic leukaemia risk
Crowther-Swanepoel, Dalemari ; Mansouri, Mahmoud ; Enjuanes, Anna ; Vega, Ana ; Smedby, Karin E. ; Ruiz-Ponte, Clara ; Jurlander, Jesper ; Juliusson, Gunnar ^LU ; Montserrat, Emilio and Catovsky, Daniel , et al. (2010) In British Journal of Haematology 150(4). p.473-479
- Contribution to journal › Article

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