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2022
Mark Merged testing for colorectal cancer syndromes and re-evaluation of genetic variants improve diagnostic yield : Results from a nationwide prospective cohort
Svensson, Sara ^LU ; Zagoras, Theofanis ; Aravidis, Christos ; Askmalm, Marie Stenmark ^LU ; Björck, Erik ; Borg, Åke ^LU ; Kuchinskaya, Ekaterina ; Nilbert, Mef ^LU ; Nordling, Margareta and Rohlin, Anna , et al. (2022) In Genes Chromosomes and Cancer 61(10). p.585-591
- 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 Alternative splicing and ACMG-AMP-2015-based classification of PALB2 genetic variants : An ENIGMA report
Lopez-Perolio, Irene ; Leman, Raphaël ; Behar, Raquel ; Lattimore, Vanessa ; Pearson, John F. ; Castéra, Laurent ; Martins, Alexandra ; Vaur, Dominique ; Goardon, Nicolas and Davy, Grégoire , et al. (2019) In Journal of Medical Genetics 56(7). p.453-460
- Contribution to journal › Article
2017
Mark GAVIN : Gene-Aware Variant INterpretation for medical sequencing
van der Velde, K. Joeri ; de Boer, Eddy N. ; van Diemen, Cleo C. ; Sikkema-Raddatz, Birgit ; Abbott, Kristin M. ; Knopperts, Alain ; Franke, Lude ; Sijmons, Rolf H. ; de Koning, Tom J. ^LU and Wijmenga, Cisca , et al. (2017) In Genome Biology 18(1).
- Contribution to journal › Article

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