Rolf H. Sijmons, MD, PhD

MD: Medicine, University of Groningen, 1986
Specialist qualification in clinical genetics, 1993, Groningen
PhD: Studies on hereditary cancer, University of Groningen, 1999
Inaugural lecture: "Genomic Medicine: een toekomstige zorg?" Full text (in Dutch), cover, 3 December 2013

News

• 2015: 5GPM - Five genes per minute - Rapid whole genome sequencing for critically ill newborns more
• 2014: NTR Radio interview on Genomic Medicine (listen, in Dutch, first item, time slot 3.00-08.50 mins)
• 2013: Better understanding of DNA findings in Familial Bowel Cancer

Email: R.H.Sijmons umcg.nl

See Google Scholar or PubMed for his publications

Keywords

Clinical applications of next-generation technology, Familial and hereditary cancer, Lynch syndrome, MMR genes, applied informatics in medical genetics

Short cv

Rolf Sijmons is a consultant clinical geneticist and professor of medical translational genetics at the Department of Genetics, UMCG. He heads the department’s Development & Innovation section, which aims to translate new knowledge and technology into clinical practice. This section also includes the oncogenetics research team. See also Systems Genetics.

His main clinical and research interests are familial and hereditary cancer, the clinical application of next-generation technology, and applied informatics in medical genetics. He is the organizer of the nationally accredited UMCG expert centre on familial colorectal cancer and a member of the EU accredited European Reference Network (ERN) on hereditary cancer (GENTURIS).

He is one of the curators of the international InSiGHT database on mismatch repair (MMR) gene mutations (http://www.insight-group.org) and a member of the InSiGHT MMR UV interpretation committee. He is also the editor of the Familial Cancer Database, a communicating editor for Human Mutation, and one of the three editors-in-chief of Hereditary Cancer in Clinical Practice.

Some recent papers

• 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. GAVIN: Gene-Aware Variant INterpretation for medical sequencing. Genome Biol. 2017;18(1):6.
• Sollie A, Sijmons RH, Helsper C, Numans ME. Reusability of coded data in the primary care electronic medical record: A dynamic cohort study concerning cancer diagnoses. Int J Med Inform. 2017;99:45-52.
• Sollie A, Roskam J, Sijmons RH, Numans ME, Helsper CW. Do GPs know their patients with cancer? Assessing the quality of cancer registration in Dutch primary care: a cross-sectional validation study. BMJ Open. 2016;6(9): e012669 6.
• Sijmons RH, Hofstra RM. Clinical aspects of hereditary DNA Mismatch repair gene mutations. DNA Repair (Amst). 2016;38:155-62
• Johansson LF, van Dijk F, de Boer EN, van Dijk-Bos KK, Jongbloed JD, van der Hout AH, Westers H, Sinke RJ, Swertz MA, Sijmons RH, Sikkema-Raddatz B. CoNVaDING: Single Exon Variation Detection in Targeted NGS Data. Hum Mutat. 2016;37(5):457-64. doi: 10.1002/humu.22969.
• Thompson BA, ... Sijmons R, ... on behalf of InSiGHT. Application of a 5-tiered scheme for standardized classification of 2,360 unique mismatch repair gene variants in the InSiGHT locus-specific database. Nat Genet. 2013; doi: 10.1038/ng.2854. abstract
• Sikkema-Raddatz B, Johansson LF, ..., Sijmons RH, Jongbloed JD, Sinke RJ. Targeted next-generation sequencing can replace Sanger sequencing in clinical diagnostics. Hum Mutat. 2013;34(7):1035-42.
• Plazzer JP, Sijmons RH, et al. The InSiGHT database: utilizing 100 years of insights into Lynch syndrome. Fam Cancer. 2013;12(2):175-80.
• Herkert JC, Niessen RC, Olderode-Berends MJW, ..., Rolf H. Sijmons. Paediatric intestinal cancer and polyposis due to bi-allelic PMS2 mutations: Case series, review and follow-up guidelines, European J Cancer, 2011; 47(7):965-82
• Sijmons RH, van Langen IM, Sijmons JG. A clinical perspective on ethical issues in genetic testing . A ccountability in Research 2011; 18:148-162. doi: 10.1080/08989621.2011.575033.