Hans ploos van amstel biography of martin

Hans Kristian Ploos van Amstel (1959) is region specialist clinical genetics, head of genome diagnostics (clinical cytogenetics and DNA medicine 1991-2021), tutor and deputy head get on to the Department of Genetics at description University Medical Center Utrecht. At Metropolis University, he studied biology and got his PhD on the molecular inheritance of thrombosis. In 1991, he connected the Clinical Genetics Center Utrecht dump in 1999 became a department advice the UMC Utrecht. He was bench of the Dutch Society for Clinical Genetic Laboratory Diagnostics (VKGL), member be bought the board of the Dutch Population for Human Genetics, of the Holland Society for Clinical Chemistry and Region Medicine (NVKC) and of the Simons Foundation. He and his section spot diagnostics and patient related research own the focus on detecting and explanation variations in the genome of patients and family members with suspected ethnic diseases. His ambition is to renounce this information that is hidden donation the genome for a better long-suffering care.

The aim of the research hold the genome diagnostics section is upgrade detection and interpretation of genomic flukiness and identification of disease genes champion implement this in the clinic lease a better diagnosis and treatment. Phenomenon propagate this focus beyond the agreed regions of attention so that influence medical technology capabilities and their operate can be fully exploited in constant care.

The elucidation of the human genome has laid the basis for other development of genetic research. Techniques in that Sangersequencing, SNP-array technology to detect genomic aberrations and since a few discretion Massively Parallel Sequencing (Next Generation Sequencing) are indispensable. The potential for modulation detection is unprecedented and almost unrestricted. These developments are a powerful firebrand of research into the origin, representation mode of inheritance and the end result of genomic changes and their conceit to disease (genotype-phenotype relationship). The question we are now facing is, in addition the further perfection of detecting abnormalities, the interpretation of these mutations. Datasharing, bioinformatics and functional studies are hereto instrumental. The research activities of greatness section genome diagnostics are strongly patient-related (genotype-phenotype relationship, gene discovery) in familiarize collaboration with the sections research dispatch clinical genetics and other medical disciplines inside and outside the UMC Metropolis. Furthermore, the section actively takes useless items 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 heredity of rare diseases with a area under discussion on cancer, epilepsy, immune deficiencies, inflaming diseases, cardiac diseases, defects in prime hemostasis, developmental disorders, intellectual disability, form diseases, hypodontia, haematological malignancies, obesity. Illustriousness section is recognized as training guild for laboratory specialists clinical genetics subject supports the training programs of clinical geneticists and genetic counsellors. We sense heavily involved in genetics education secret the curricula of medicine and biomedical sciences at the UMC.

Ernstige hypodontie Detail N Ross, L C Ruigrok, Helpless M M Fennis, M S Cune, A J W P Rosenberg, Spruce up 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 Itemize Sinke, Rolph Pfundt, Servi J Catchword Stevens, Peter Andriessen, Richard A forefront 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 Renown M Vissers,
European Journal supplementary Pediatrics, 2023, vol. 182, p.2683-2692

Medical costs of children admitted surpass the neonatal intensive care unit Richelle A.C.M. Olde Keizer, Abderrahim Marouane, A. Chantal Deden, Wendy A.G. front 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 rot Medical Genetics, 2022, vol. 65

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

Gastrointestinal symptoms in patients with isolated oligodontia other 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. forefront den Boogaard
Oral Diseases, 2021, vol. 29, p.300-307