Hans ploos van amstel biography of martin

Hans Kristian Ploos van Amstel (1959) is work specialist clinical genetics, head of genome diagnostics (clinical cytogenetics and DNA nosology 1991-2021), tutor and deputy head look upon the Department of Genetics at interpretation University Medical Center Utrecht. At Metropolis University, he studied biology and got his PhD on the molecular congenital traits of thrombosis. In 1991, he connected the Clinical Genetics Center Utrecht dump in 1999 became a department observe the UMC Utrecht. He was rocking-chair of the Dutch Society for Clinical Genetic Laboratory Diagnostics (VKGL), member round the board of the Dutch Sovereign state for Human Genetics, of the Holland Society for Clinical Chemistry and Region Medicine (NVKC) and of the Simons Foundation. He and his section discharge duty diagnostics and patient related research concluded the focus on detecting and explanation variations in the genome of patients and family members with suspected inheritable diseases. His ambition is to flexible this information that is hidden lecture in the genome for a better passive care.

The aim of the research dying the genome diagnostics section is amend detection and interpretation of genomic flukiness and identification of disease genes instruction implement this in the clinic insinuate a better diagnosis and treatment. Amazement propagate this focus beyond the fixed regions of attention so that integrity medical technology capabilities and their ask can be fully exploited in determined care.

The elucidation of the human genome has laid the basis for in mint condition development of genetic research. Techniques hoot Sangersequencing, SNP-array technology to detect genomic aberrations and since a few life Massively Parallel Sequencing (Next Generation Sequencing) are indispensable. The potential for refinement detection is unprecedented and almost boundless. These developments are a powerful initiator of research into the origin, high-mindedness mode of inheritance and the swelling of genomic changes and their delight to disease (genotype-phenotype relationship). The difficult we are now facing is, also the further perfection of detecting abnormalities, the interpretation of these mutations. Datasharing, bioinformatics and functional studies are hereto instrumental. The research activities of character section genome diagnostics are strongly patient-related (genotype-phenotype relationship, gene discovery) in seat collaboration with the sections research charge clinical genetics and other medical disciplines inside and outside the UMC Metropolis. Furthermore, the section actively takes neighbourhood in the national network of genome diagnostics laboratories organized within the Land society of laboratory specialist clinical genetic make-up. The research is on the constitution of rare diseases with a punctually on cancer, epilepsy, immune deficiencies, rousing diseases, cardiac diseases, defects in first hemostasis, developmental disorders, intellectual disability, type diseases, hypodontia, haematological malignancies, obesity. Probity section is recognized as training school for laboratory specialists clinical genetics take precedence supports the training programs of clinical geneticists and genetic counsellors. We form heavily involved in genetics education propitious the curricula of medicine and biomedical sciences at the UMC.

Ernstige hypodontie List N Ross, L C Ruigrok, Defenceless M M Fennis, M S Cune, A J W P Rosenberg, Topping B van Nunen, M A Créton, H K Ploos van Amstel, Collection J J H van den Boogaard
Nederlands Tijdschrift voor Tandheelkunde, 2023, vol. 130, p.277-286

Rapid exome sequencing as a first-tier test in neonates with suspected genetic disorder Richelle A C M Olde Keizer, Abderrahim Marouane, Wilhelmina S Kerstjens-Frederikse, A Chantal Deden, Klaske D Lichtenbelt, Tinneke Jonckers, Marieke Vervoorn, Maaike Vreeburg, Lidewij Henneman, Linda S de Vries, Richard Document Sinke, Rolph Pfundt, Servi J Apophthegm Stevens, Peter Andriessen, Richard A advance guard Lingen, Marcel Nelen, Hans Scheffer, Nymph Stemkens, Cor Oosterwijk, Hans Kristian Ploos van Amstel, Willem P de Boode, Wendy A G van Zelst-Stams, Geert W J Frederix, Lisenka E Fame M Vissers,
European Journal commandeer Pediatrics, 2023, vol. 182, p.2683-2692

Medical costs of children admitted forget about the neonatal intensive care unit Richelle A.C.M. Olde Keizer, Abderrahim Marouane, A. Chantal Deden, Wendy A.G. advance guard Zelst-Stams, Willem P. de Boode, Willem R. Keusters, Lidewij Henneman, Johannes Kristian Ploos van Amstel, Gerardus W.J. Frederix, Lisenka E.L.M. Vissers
European Journal be more or less Medical Genetics, 2022, vol. 65

Approach to Diagnosing a Pediatric Acquiescent With Severe Insulin Resistance in Low- or Middle-income Countries Alise Tidy van Heerwaarde, Renz C W Klomberg, Conny M A van Ravenswaaij-Arts, Hans Kristian Ploos van Amstel, Aartie Toekoen, Fariza Jessurun, Abhimanyu Garg, Daniëlle Byword M van der Kaay
The Review of clinical endocrinology and metabolism, 2021, vol. 106, p.3621-3633

Gastrointestinal symptoms in patients with isolated oligodontia bear a Wnt gene mutation Jamila N. Ross, Lisanne C. Ruigrok, Willem M.M. Fennis, Marco S. Cune, Antoine J.W.P. Rosenberg, Annick B. van Nunen, Marijn A. Créton, Hans Kristian Ploos van Amstel, Marie José J.H. vehivle den Boogaard
Oral Diseases, 2021, vol. 29, p.300-307