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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: sinke rj. Genome Biol. 2017 Jan 16;18(1):6. doi: 10.1186/s13059-016-1141-7. Genome Biol. 2017. PMID: 28093075 Free PMC article.
Is MYO9B the missing link between schizophrenia and celiac disease?
Jungerius BJ, Bakker SC, Monsuur AJ, Sinke RJ, Kahn RS, Wijmenga C. Jungerius BJ, et al. Among authors: sinke rj. Am J Med Genet B Neuropsychiatr Genet. 2008 Apr 5;147(3):351-5. doi: 10.1002/ajmg.b.30605. Am J Med Genet B Neuropsychiatr Genet. 2008. PMID: 17948900
Practical guidelines for interpreting copy number gains detected by high-resolution array in routine diagnostics.
Hanemaaijer NM, Sikkema-Raddatz B, van der Vries G, Dijkhuizen T, Hordijk R, van Essen AJ, Veenstra-Knol HE, Kerstjens-Frederikse WS, Herkert JC, Gerkes EH, Leegte LK, Kok K, Sinke RJ, van Ravenswaaij-Arts CM. Hanemaaijer NM, et al. Among authors: sinke rj. Eur J Hum Genet. 2012 Feb;20(2):161-5. doi: 10.1038/ejhg.2011.174. Epub 2011 Sep 21. Eur J Hum Genet. 2012. PMID: 21934709 Free PMC article.
Mutations in potassium channel kcnd3 cause spinocerebellar ataxia type 19.
Duarri A, Jezierska J, Fokkens M, Meijer M, Schelhaas HJ, den Dunnen WF, van Dijk F, Verschuuren-Bemelmans C, Hageman G, van de Vlies P, Küsters B, van de Warrenburg BP, Kremer B, Wijmenga C, Sinke RJ, Swertz MA, Kampinga HH, Boddeke E, Verbeek DS. Duarri A, et al. Among authors: sinke rj. Ann Neurol. 2012 Dec;72(6):870-80. doi: 10.1002/ana.23700. Ann Neurol. 2012. PMID: 23280838
Successful noninvasive trisomy 18 detection using single molecule sequencing.
van den Oever JM, Balkassmi S, Johansson LF, Adama van Scheltema PN, Suijkerbuijk RF, Hoffer MJ, Sinke RJ, Bakker E, Sikkema-Raddatz B, Boon EM. van den Oever JM, et al. Among authors: sinke rj. Clin Chem. 2013 Apr;59(4):705-9. doi: 10.1373/clinchem.2012.196212. Epub 2013 Jan 11. Clin Chem. 2013. PMID: 23315481 Free article.
Dystonia in children and adolescents: a systematic review and a new diagnostic algorithm.
van Egmond ME, Kuiper A, Eggink H, Sinke RJ, Brouwer OF, Verschuuren-Bemelmans CC, Sival DA, Tijssen MA, de Koning TJ. van Egmond ME, et al. Among authors: sinke rj. J Neurol Neurosurg Psychiatry. 2015 Jul;86(7):774-81. doi: 10.1136/jnnp-2014-309106. Epub 2014 Nov 13. J Neurol Neurosurg Psychiatry. 2015. PMID: 25395479 Review.
143 results