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Practical Barriers and Facilitators Experienced by Patients, Pharmacists and Physicians to the Implementation of Pharmacogenomic Screening in Dutch Outpatient Hospital Care-An Explorative Pilot Study.
Lanting P, Drenth E, Boven L, van Hoek A, Hijlkema A, Poot E, van der Vries G, Schoevers R, Horwitz E, Gans R, Kosterink J, Plantinga M, van Langen I, Ranchor A, Wijmenga C, Franke L, Wilffert B, Sijmons R. Lanting P, et al. Among authors: sijmons r. J Pers Med. 2020 Dec 21;10(4):293. doi: 10.3390/jpm10040293. J Pers Med. 2020. PMID: 33371313 Free PMC article.
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. Genome Biol. 2017 Jan 16;18(1):6. doi: 10.1186/s13059-016-1141-7. Genome Biol. 2017. PMID: 28093075 Free PMC article.
Diagnostic yield of targeted next generation sequencing in 2002 Dutch cardiomyopathy patients.
Alimohamed MZ, Johansson LF, Posafalvi A, Boven LG, van Dijk KK, Walters L, Vos YJ, Westers H, Hoedemaekers YM, Sinke RJ, Sijmons RH, Sikkema-Raddatz B, Jongbloed JDH, van der Zwaag PA. Alimohamed MZ, et al. Int J Cardiol. 2021 Jun 1;332:99-104. doi: 10.1016/j.ijcard.2021.02.069. Epub 2021 Mar 1. Int J Cardiol. 2021. PMID: 33662488 Free article.
A prospective study on rapid exome sequencing as a diagnostic test for multiple congenital anomalies on fetal ultrasound.
Corsten-Janssen N, Bouman K, Diphoorn JCD, Scheper AJ, Kinds R, El Mecky J, Breet H, Verheij JBGM, Suijkerbuijk R, Duin LK, Manten GTR, van Langen IM, Sijmons RH, Sikkema-Raddatz B, Westers H, van Diemen CC. Corsten-Janssen N, et al. Among authors: sijmons rh. Prenat Diagn. 2020 Sep;40(10):1300-1309. doi: 10.1002/pd.5781. Epub 2020 Jul 20. Prenat Diagn. 2020. PMID: 32627857 Free PMC article.
Targeted next-generation sequencing can replace Sanger sequencing in clinical diagnostics.
Sikkema-Raddatz B, Johansson LF, de Boer EN, Almomani R, Boven LG, van den Berg MP, van Spaendonck-Zwarts KY, van Tintelen JP, Sijmons RH, Jongbloed JD, Sinke RJ. Sikkema-Raddatz B, et al. Among authors: sijmons rh. Hum Mutat. 2013 Jul;34(7):1035-42. doi: 10.1002/humu.22332. Epub 2013 Apr 29. Hum Mutat. 2013. PMID: 23568810
Evaluation of CADD Scores in Curated Mismatch Repair Gene Variants Yields a Model for Clinical Validation and Prioritization.
van der Velde KJ, Kuiper J, Thompson BA, Plazzer JP, van Valkenhoef G, de Haan M, Jongbloed JD, Wijmenga C, de Koning TJ, Abbott KM, Sinke R, Spurdle AB, Macrae F, Genuardi M, Sijmons RH, Swertz MA; InSiGHT Group. van der Velde KJ, et al. Among authors: sijmons rh. Hum Mutat. 2015 Jul;36(7):712-9. doi: 10.1002/humu.22798. Epub 2015 May 20. Hum Mutat. 2015. PMID: 25871441 Free PMC article.
196 results