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

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

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Research Output (253)

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 May 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 6 p.

Bovenop de toekomst

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

A survey of undetected, clinically relevant chromosome abnormalities when replacing postnatal karyotyping by Whole Genome Sequencing

Hochstenbach Ron, van Binsbergen Ellen, Schuring-Blom Heleen, Buijs Arjan, Ploos van Amstel Hans Kristian 1 Jan 2018, In: European Journal of Medical Genetics. 62

Familial macrothrombocytopenia due to a double mutation in cis in the alpha-actinin 1 gene (ACTN1), previously considered to be chronic immune thrombocytopenic purpura

Kanhai Danny, Mulder René, Ploos van Amstel Hans Kristian, Schutgens Roger, Lukens Michael, Tamminga Rienk Y.J. 1 Jan 2018, In: Pediatric Blood and Cancer. 65

Nieuwe bloedtest van ernstige erfelijke ziekten:Prenatale diagnostiek

Ploos van Amstel JK, Otten Arnold Dec 2017, 2 p.

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