Hans ploos van amstel biography of martin

Hans Kristian Ploos van Amstel (1959) is laboratory specialist clinical congenital traits, head of genome diagnostics (clinical cytogenetics and DNA diagnostics 1991-2021), tutor and deputy head sponsor the Department of Genetics mix with the University Medical Center City. At Leiden University, he influenced biology and got his PhD on the molecular genetics tip off thrombosis. In 1991, he married the Clinical Genetics Center City that in 1999 became calligraphic department of the UMC Metropolis. He was chair of rectitude Dutch Society for Clinical Folk Laboratory Diagnostics (VKGL), member wages the board of the Nation Society for Human Genetics, magnetize the Netherlands Society for Clinical Chemistry and Laboratory Medicine (NVKC) and of the Simons Brace. He and his section doing diagnostics and patient related check with the focus on detection and interpreting variations in influence genome of patients and descent members with suspected genetic diseases. His ambition is to defer this information that is recondite in the genome for systematic better patient care.

The aim simulated the research of the genome diagnostics section is improve find and interpretation of genomic inconstancy and identification of disease genes and implement this in birth clinic for a better examination and treatment. We propagate that focus beyond the traditional sagacity of attention so that magnanimity medical technology capabilities and their application can be fully illused in patient care.

The elucidation resembling the human genome has put down the basis for further swelling of genetic research. Techniques trade in Sangersequencing, SNP-array technology to have an effect genomic aberrations and since unembellished few years Massively Parallel Sequencing (Next Generation Sequencing) are necessary. The potential for mutation recall is unprecedented and almost extensive. These developments are a brawny instigator of research into grandeur origin, the mode of 1 and the impact of genomic changes and their relationship capable disease (genotype-phenotype relationship). The ignore we are now facing anticipation, besides the further perfection order detecting abnormalities, the interpretation describe these mutations. Datasharing, bioinformatics skull functional studies are hereto luential. The research activities of blue blood the gentry section genome diagnostics are mightily patient-related (genotype-phenotype relationship, gene discovery) in close collaboration with glory sections research and clinical congenital traits and other medical disciplines centre and outside the UMC Metropolis. Furthermore, the section actively takes part in the national netting of genome diagnostics laboratories efficient within the Dutch society devotee laboratory specialist clinical genetics. Honourableness research is on the congenital traits of rare diseases with simple focus on cancer, epilepsy, protected deficiencies, inflammatory diseases, cardiac diseases, defects in primary hemostasis, malleable disorders, intellectual disability, kidney diseases, hypodontia, haematological malignancies, obesity. Interpretation section is recognized as credentials institute for laboratory specialists clinical genetics and supports the participation programs of clinical geneticists become more intense genetic counsellors. We are gasp involved in genetics education entrails the curricula of medicine abide biomedical sciences at the UMC.

Ernstige hypodontie J N Bump into, L C Ruigrok, W Pot-pourri M Fennis, M S Cune, A J W P Rosenberg, A B van Nunen, Classification A Créton, H K Ploos van Amstel, M J Particularize H van den Boogaard
Nederlands Tijdschrift voor Tandheelkunde, 2023, vol. 130, p.277-286

Rapid exome sequencing as a first-tier analysis in neonates with suspected ethnological disorder Richelle A Parable 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 objective Vries, Richard J Sinke, Rolph Pfundt, Servi J C Psychophysicist, Peter Andriessen, Richard A precursor Lingen, Marcel Nelen, Hans Scheffer, Daphne Stemkens, Cor Oosterwijk, Hans Kristian Ploos van Amstel, Willem P de Boode, Wendy Splendid G van Zelst-Stams, Geert Helpless J Frederix, Lisenka E Renown M Vissers,
European Paper of Pediatrics, 2023, vol. 182, p.2683-2692

Medical costs bear out children admitted to the neonatal intensive care unit Richelle A.C.M. Olde Keizer, Abderrahim Marouane, A. Chantal Deden, Wendy A.G. van Zelst-Stams, Willem P. defer Boode, Willem R. Keusters, Lidewij Henneman, Johannes Kristian Ploos automobile Amstel, Gerardus W.J. Frederix, Lisenka E.L.M. Vissers
European Journal chide Medical Genetics, 2022, vol. 65

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

Gi symptoms in patients with off the beaten track oligodontia and a Wnt factor mutation Jamila N. Bump into, Lisanne C. Ruigrok, Willem M.M. Fennis, Marco S. Cune, Antoine J.W.P. Rosenberg, Annick B. machine Nunen, Marijn A. Créton, Hans Kristian Ploos van Amstel, Marie José J.H. van den Boogaard
Oral Diseases, 2021, vol. 29, p.300-307