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GAVIN: Gene-Aware Variant INterpretation for medical sequencing.
van der Velde KJ, de Boer EN, van Diemen CC, Sikkema-Raddatz B, Abbott KM, Knopperts A, Franke L, Sijmons RH, de Koning TJ, Wijmenga C, Sinke RJ, Swertz MA. van der Velde KJ, et al. Among authors: knopperts a. Genome Biol. 2017 Jan 16;18(1):6. doi: 10.1186/s13059-016-1141-7. Genome Biol. 2017. PMID: 28093075 Free PMC article.
Contribution of bi-allelic germline MUTYH mutations to early-onset and familial colorectal cancer and to low number of adenomatous polyps: case-series and literature review.
Knopperts AP, Nielsen M, Niessen RC, Tops CM, Jorritsma B, Varkevisser J, Wijnen J, Siezen CL, Heine-Bröring RC, van Kranen HJ, Vos YJ, Westers H, Kampman E, Sijmons RH, Hes FJ. Knopperts AP, et al. Fam Cancer. 2013 Mar;12(1):43-50. doi: 10.1007/s10689-012-9570-2. Fam Cancer. 2013. PMID: 23007840 Review.