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prof. dr. J.K. (Hans Kristian) Ploos van Amstel

Full Professor

  • Section genome diagnostics

Research Output (246)

Genetic Obesity and Bariatric Surgery Outcome in 1014 Patients with Morbid Obesity

Cooiman M. I., Kleinendorst L., Aarts E. O., Janssen I. M.C., van Amstel H. K.Ploos, Blakemore A. I., Hazebroek E. J., Meijers-Heijboer H. J., van der Zwaag B., Berends F. J., van Haelst M. M. feb 2020, In: Obesity Surgery. 30 , p. 470-477 8 p.

Detection of disease causing repeats by multi-locus CRISPR-Cas enrichment and nanopore sequencing

Elferink M. G., Renkens I. J., Dooijes D., van Roosmalen M. J., Raimondeau E., Bowen R., Heron A. J., Graham J. E., van Amstel H. Ploos, Kloosterman W. P., van Gassen K. L. okt 2019, In: European Journal of Human Genetics. 27 , p. 1658-1658

Gene Mosaicism Screening Using Single-Molecule Molecular Inversion Probes in Routine Diagnostics for Systemic Autoinflammatory Diseases

Kant Benjamin, Carbo Ellen C., Kokmeijer Iris, Oosterman Jelske J.M., Frenkel Joost, Swertz Morris A., Ploos van Amstel Johannes K., Aróstegui Juan I., Koudijs Marco J., van Gijn Mariëlle E. 20 aug 2019, In: Journal of Molecular Diagnostics. 21 , p. 943-950 8 p.

Detection of disease causing repeats by multi-locus CRISPR-Cas enrichment and nanopore sequencing

Elferink Martin, Renkens Ivo , Dooijes Dennis, van Roosmalen Mark, Ploos van Amstel Hans Kristian, Kloosterman Wigard, van Gassen Koen 16 jun 2019,

Concurrent manifestation of oligodontia and thrombocytopenia caused by a contiguous gene deletion in 12p13.2:A three-generation clinical report

Ross Jamila, Fennis Willem, de Leeuw Nicole, Cune Marco, Willemze Annemieke, Rosenberg Antoine, Ploos van Amstel Hans Kristian, Créton Marijn, van den Boogaard Marie José 1 jun 2019, In: Molecular Genetics and Genomic Medicine. 7 6 p.

Mortality Risk Associated With Truncating Founder Mutations in Titin

Jansen Mark, Baas Annette F., van Spaendonck-Zwarts Karin Y., Ummels Amber S., van den Wijngaard Arthur, Jongbloed Jan D. H., van Slegtenhorst Marjon A., Deprez Ronald H. Lekanne, Wessels Marja W., Michels Michelle, Houweling Arjan C., Hoorntje Edgar T., Helderman-van den Enden Paula J. T. M., Barge-Schaapveld Daniela Q. C. M., van Tintelen J. Peter, van den Berg Maarten P., Wilde Arthur A. M., van Amstel Hans K. Ploos, Hennekam Eric A. M., Asselbergs Folkert W., Sijbrands Eric J. G., Dooijes Dennis mei 2019, In: Circ Genom Precis Med. 12 , p. e002436

Genetic obesity:Next-generation sequencing results of 1230 patients with obesity

Kleinendorst Lotte, Massink Maarten P.G., Cooiman Mellody I., Savas Mesut, Van Der Baan-Slootweg Olga H., Roelants Roosje J., Janssen Ignace C.M., Meijers-Heijboer Hanne J., Knoers Nine V.A.M., Ploos Van Amstel Hans Kristian, Van Rossum Elisabeth F.C., Van Den Akker Erica L.T., Van Haaften Gijs, Van Der Zwaag Bert, Van Haelst Mieke M. 1 sep 2018, In: Journal of Medical Genetics. 55 , p. 578-586 9 p.

Haploinsufficiency of CUX1 Causes Nonsyndromic Global Developmental Delay With Possible Catch-up Development

Mitter Diana, Lemke Johannes R., Platzer Konrad, Jamra Rami, Ploos van Amstel Hans K., van der Smagt Jasper J., Stegmann Alexander P.A., Stumpel Constance T.R.M., Stevens Servi J.C., Oberndorff Katrin, Marcelis Carlo L., Cogné Benjamin, Vincent Marie, Simonic Ingrid, Hague Jennifer, Park Soo Mi 1 aug 2018, In: Annals of Neurology. 84 , p. 200-207 8 p.

Whole-exome sequencing in intellectual disability; cost before and after a diagnosis

Vrijenhoek Terry, Middelburg Eline M, Monroe Glen R, van Gassen Koen L I, Geenen Joost W, Hövels Anke M, Knoers Nine V, van Amstel Hans Kristian Ploos, Frederix Gerardus W J 29 jun 2018, In: European Journal of Human Genetics. 26 , p. 1566-1571

Bovenop de toekomst

Ploos van Amstel JK mrt 2018, In: Laboratoriumgeneeskunde. 1 , p. 27-28 2 p.