Ploos van Amstel

Areas of expertise

Hans Kristian Ploos van Amstel (1959) is laboratory specialist clinical genetics, head of genome diagnostics (clinical cytogenetics and DNA diagnostics), tutor and deputy head of the Department of Genetics at the University Medical Center Utrecht. At Leiden University, he studied biology and got his PhD on the molecular genetics of thrombosis. In 1991, he joined the Clinical Genetics Center Utrecht that in 1999 became a department of the UMC Utrecht. He is chair of the Dutch Society for Clinical Genetic Laboratory Diagnostics (VKGL), member of the board of the Dutch Society for Human Genetics, of the Netherlands Society for Clinical Chemistry and Laboratory Medicine (NVKC) and of the Simons Foundation. He and his section perform diagnostics and patient related research with the focus on detecting and interpreting variations in the genome of patients and family members with suspected genetic diseases. His ambition is to use this information that is hidden in the genome for a better patient care.


Research program / group

The aim of the research of the genome diagnostics section is improve detection and interpretation of genomic variations and identification of disease genes and implement this in the clinic for a better diagnosis and treatment. We propagate this focus beyond the traditional regions of attention so that the medical technology capabilities and their application can be fully exploited in patient care.

The elucidation of the human genome has laid the basis for further development of genetic research. Techniques as Sangersequencing, SNP-array technology to detect genomic aberrations and since a few years Massively Parallel Sequencing (Next Generation Sequencing) are indispensable. The potential for mutation detection is unprecedented and almost limitless. These developments are a powerful instigator of research into the origin, the mode of inheritance and the impact of genomic changes and their relationship to disease (genotype-phenotype relationship). The challenge we are now facing is, besides the further perfection of detecting abnormalities, the interpretation of these mutations. Datasharing, bioinformatics and functional studies are hereto instrumental. The research activities of the section genome diagnostics are strongly patient-related (genotype-phenotype relationship, gene discovery) in close collaboration with the sections research and clinical genetics and other medical disciplines inside and outside the UMC Utrecht. Furthermore, the section actively takes part in the national network of genome diagnostics laboratories organized within the Dutch society of laboratory specialist clinical genetics. The research is on the genetics of rare diseases with a focus on cancer, epilepsy, immune deficiencies, inflammatory diseases, cardiac diseases, defects in primary hemostasis, developmental disorders, intellectual disability, kidney diseases, hypodontia, haematological malignancies, obesity. The section is recognized as training institute for laboratory specialists clinical genetics and supports the training programs of clinical geneticists and genetic counsellors. We are heavily involved in genetics education within the curricula of medicine and biomedical sciences at the UMC.


Group members

  • Ellen van Binsbergen - clinical laboratory geneticist
  • Arjan Buijs PhD - clinical laboratory geneticist
  • Dennis Dooijes PhD - clinical laboratory geneticist
  • Martin Elferink PhD - bioinformatician clinical genetics
  • Koen van Gassen PhD -  clinical laboratory geneticist
  • Marielle van Gijn PhD - clinical laboratory geneticist
  • Marjan van Kempen PhD - clinical laboratory geneticist
  • Marco Koudijs PhD - clinical laboratory geneticist i.t.
  • Heleen Schuring-Blom PhD - clinical laboratory geneticist
  • Simone Snijder - clinical laboratory geneticist, prenatal
  • Lars van der Veken PhD - clinical laboratory geneticist
  • Richard Zewald - laboratory manager clinical molecular genetics
  • Patrick van Zon - coordinator NGS facility
  • Bert van der Zwaag PhD - clinical laboratory geneticist
  • Mirjam de Pagter - researcher WGS
  • Ies Nijman - bioinformatician clinical genetics and head medical bioinformatics

Key publications

  • De Vree PJ, de Wit E, Yilmaz M, van de Heijning M, Klous P, Verstegen MJ, Wan Y, Teunissen H, Krijger PH, Geeven G, Eijk PP, Sie D, Ylstra B, Hulsman LO, van Dooren MF, van Zutven LJ, van den Ouweland A, Verbeek S, van Dijk KW, Cornelissen M, Das AT, Berkhout B, Sikkema-Raddatz B, van den Berg E, van der Vlies P, Weening D, den Dunnen JT, Matusiak M, Lamkanfi M, Ligtenberg MJ, Ter Brugge P, Jonkers J, Foekens JA, Martens JW, van der Luijt R, Ploos van Amstel HK, van Min M, Splinter E, de Laat W.Targeted sequencing by proximity ligation for comprehensive variant detection and local haplotyping. Nat Biotechnol 2014 32:1019-1025
  • van den Boogaard M-JH, Creton MA, Bronkhorst AY, van der Hout AH, Cune C, Ploos van Amstel JK Mutations in WNT10A present in 50% of isolated hypodontia cases. 2012 J Med Genet  49: :303-306
  • Harakalova M*, van den Boogaard MJ*, Sinke RJ, van Lieshout S, van Tuil M, Duran K, Renkens I, Terhal PA, de Kovel C, Nijman IJ, van Haelst M, Knoers VVAM , van Haaften G, Kloosterman W, Hennekam RCM, Cuppen E, Ploos van Amstel JK. X-exome sequencing identifies a HDAC8 variant in a large pedigree with X-linked intellectual disability, truncal obesity, gynecomastia, hypogonadism and unusual face J Med Genet 2012 49: 539-543
  • Letteboer TGW, Zewald RA, Kamping EJ, Mager JJ, Snijder RJ, Lindhout D, Hennekam FAM, Westermann CJJ, Ploos van Amstel JK. Hereditary Hemorrhagic Telangiectasia: ENG and ALK-1 mutations in Dutch patients Hum Gen 2005 116:8-16
  • Van den Boogaard MJH, Dorand M, Beemer FA, Ploos van Amstel JK. MSX1 mutation is associated with orofacial clefting and tooth agenesis in humans. 2000 Nature Genetics 24:342-343


Link to full list of publications


More contact information

Visiting address
Wilhelmina Kinderziekenhuis
Lundlaan 6
3584 EA Utrecht
The Netherlands

00 31 (0)88 75 53837


Detailed CV