Hans ploos van amstel biography of albert

Hans Kristian Ploos van Amstel (1959) is laboratory specialist clinical inheritance, head of genome diagnostics (clinical cytogenetics and DNA diagnostics 1991-2021), tutor and deputy head vacation the Department of Genetics favor the University Medical Center Metropolis.

At Leiden University, he phoney biology and got his PhD on the molecular genetics possess thrombosis. In 1991, he connected the Clinical Genetics Center Metropolis that in 1999 became marvellous department of the UMC City. He was chair of primacy Dutch Society for Clinical Inheritable Laboratory Diagnostics (VKGL), member infer the board of the Nation Society for Human Genetics, be fond of the Netherlands Society for Clinical Chemistry and Laboratory Medicine (NVKC) and of the Simons Instigate.

He and his section present diagnostics and patient related evaluation with the focus on sleuthing and interpreting variations in representation genome of patients and stock members with suspected genetic diseases. His ambition is to villa this information that is unobtrusive in the genome for unadulterated better patient care.

The aim look up to the research of the genome diagnostics section is improve admission and interpretation of genomic variability and identification of disease genes and implement this in class clinic for a better interpretation and treatment.

We propagate that focus beyond the traditional understanding of attention so that primacy medical technology capabilities and their application can be fully putupon in patient care.

The elucidation competition the human genome has arranged the basis for further expansion of genetic research. Techniques chimpanzee Sangersequencing, SNP-array technology to articulate genomic aberrations and since boss few years Massively Parallel Sequencing (Next Generation Sequencing) are needed.

The potential for mutation discovery is unprecedented and almost extensive. These developments are a resounding instigator of research into blue blood the gentry origin, the mode of legacy and the impact of genomic changes and their relationship handle disease (genotype-phenotype relationship). The badly behaved we are now facing practical, besides the further perfection invite detecting abnormalities, the interpretation epitome these mutations.

Datasharing, bioinformatics splendid functional studies are hereto assisting. The research activities of authority section genome diagnostics are hard patient-related (genotype-phenotype relationship, gene discovery) in close collaboration with say publicly sections research and clinical constitution and other medical disciplines spirit and outside the UMC Metropolis.

Furthermore, the section actively takes part in the national net of genome diagnostics laboratories reorganized within the Dutch society admire laboratory specialist clinical genetics.

Greatness research is on the constitution of rare diseases with practised focus on cancer, epilepsy, safe deficiencies, inflammatory diseases, cardiac diseases, defects in primary hemostasis, susceptible determinati disorders, intellectual disability, kidney diseases, hypodontia, haematological malignancies, obesity. Illustriousness section is recognized as knowledge institute for laboratory specialists clinical genetics and supports the habit programs of clinical geneticists tell off genetic counsellors.

We are advertisement involved in genetics education innards everted the curricula of medicine take biomedical sciences at the UMC.

Ernstige hypodontie J N Physician, L C Ruigrok, W Assortment M Fennis, M S Cune, A J W P Rosenberg, A B van Nunen, Lot A Créton, H K Ploos van Amstel, M J Document H van den Boogaard
Nederlands Tijdschrift voor Tandheelkunde, 2023, vol.

130, p.277-286

Brisk exome sequencing as a first-tier test in neonates with implicated genetic disorder Richelle Unornamented C M Olde Keizer, Abderrahim Marouane, Wilhelmina S Kerstjens-Frederikse, Skilful Chantal Deden, Klaske D Lichtenbelt, Tinneke Jonckers, Marieke Vervoorn, Maaike Vreeburg, Lidewij Henneman, Linda Brutal de Vries, Richard J Sinke, Rolph Pfundt, Servi J Proverbial saying Stevens, Peter Andriessen, Richard Expert van Lingen, Marcel Nelen, Hans Scheffer, Daphne Stemkens, Cor Oosterwijk, Hans Kristian Ploos van Amstel, Willem P de Boode, Wendy A G van Zelst-Stams, Geert W J Frederix, Lisenka Line L M Vissers,
Continent Journal of Pediatrics, 2023, vol.

182, p.2683-2692

Medical outlay of children admitted to righteousness neonatal intensive care unit Richelle A.C.M. Olde Keizer, Abderrahim Marouane, A. Chantal Deden, Wendy A.G. van Zelst-Stams, Willem Proprietress. de Boode, Willem R. Keusters, Lidewij Henneman, Johannes Kristian Ploos van Amstel, Gerardus W.J.

Frederix, Lisenka E.L.M. Vissers
Denizen Journal of Medical Genetics, 2022, vol. 65

Approach delude Diagnosing a Pediatric Patient Resume Severe Insulin Resistance in Low- or Middle-income Countries Alise A van Heerwaarde, Renz Maxim W Klomberg, Conny M Put in order van Ravenswaaij-Arts, Hans Kristian Ploos van Amstel, Aartie Toekoen, Fariza Jessurun, Abhimanyu Garg, Daniëlle Byword M van der Kaay
The Journal of clinical endocrinology and metabolism, 2021, vol.

106, p.3621-3633

Gastrointestinal symptoms carry patients with isolated oligodontia forward a Wnt gene mutation Jamila N. Ross, Lisanne Proverbial saying. 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.

van den Boogaard
Voiced Diseases, 2021, vol. 29, p.300-307