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

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

Full Professor

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Research Output (253)

SMAD4 gene mutation increases the risk of aortic dilation in patients with hereditary haemorrhagic telangiectasia

Vorselaars V.M., Diederik A., Prabhudesai V., Velthuis S., Vos J. A., Snijder R. J., Westermann C.J.J., Mulder B.J., Ploos van Amstel J. K., Mager Johannes J., Faughnan M. E., Post M. C. 15 Oct 2017, In: International Journal of Cardiology. 245 , p. 114-118 5 p.

The association between WNT10A variants and dental development in patients with isolated oligodontia

Dhamo Brunilda, Fennis Willem, Creton MA, Vucic Strahinja, Cune Marco, Ploos van Amstel Hans Kristian, Wolvius Eppo B, van den Boogaard MJH, Ongkosuwito Edwin M Jan 2017, In: European Journal of Human Genetics. 25 , p. 59–65 7 p.

Sensitive Monogenic Noninvasive Prenatal Diagnosis by Targeted Haplotyping

Vermeulen Carlo, Geeven Geert, de Wit Elzo, Verstegen Marjon J A M, Jansen Rumo P.M., van Kranenburg Melissa, de Bruijn Ewart, Pulit Sara L., Kruisselbrink Evelien, Shahsavari Zahra, Omrani Davood, Zeinali Fatemeh, Najmabadi Hossein, Katsila Theodora, Vrettou Christina, Patrinos George P., Traeger-Synodinos Joanne, Splinter Erik, Beekman Jeffrey M., Kheradmand Kia Sima, Te Meerman Gerard J, Ploos van Amstel Hans Kristian, de Laat Wouter 2017, In: American Journal of Human Genetics. 101 , p. 326-339 14 p.

Macrosomia, obesity, and macrocephaly as first clinical presentation of PHP1b caused by STX16 deletion

de Lange Iris M, Verrijn Stuart Annemarie A, van der Luijt Rob B, Ploos van Amstel Hans Kristian, van Haelst Mieke M Sep 2016, In: American Journal of Medical Genetics. Part A. 170 , p. 2431–2435

MSX1 and hypodontia, orofacial clefting and the Witkop syndrome

van den Boogaard MJH, Ploos van Amstel JK 2016, p. 703-706

NGS-based diagnostic DNA analysis in syndromal and nonsyndromal obesity

van der Zwaag A, van Rossum E.F.C., van den Akker E.L.T., van Zon P.H.A., Janssen I.M.C., Ploos van Amstel JK, van Haelst MM 22 Oct 2015,

Targeted NGS based hereditary autoinflammatory disorder screening in routine diagnostics, two year experience in the Netherlands

Elferink M. G., van Zon P., Frenkel J., Harts W., Simon A., van Royen-Kerkhof A., Swart J., van Amstel H. K Ploos, van Gijn M. 28 Sep 2015, p. p51

Pyruvate kinase deficiency and severe congenital hemolytic anemia in a double heterozygous patient with paternal transmission of an early germ-line de novo mutation

Del Mar Mañú-Pereira María, Gonzalez-Roca Eva, van Solinge Wouter W, Llaudet-Planas Esther, Sevilla Julián, Montllor Laura, Mensa-Vilaro Anna, Ploos van Amstel Hans Kristian, van Wijk Richard, Vives-Corrons JoanLluis 28 Aug 2015, In: American Journal of Hematology. 90 , p. E217-E219

NGS-based diagnostic DNA analysis in syndromal and nonsyndromal obesity

van der Zwaag A, van Rossum E.F.C., van den Akker E.L.T. , van Zon P.H.A., Janssen I.M.C., Ploos van Amstel J.K., van Haelst M.M. 29 Apr 2015,

Towards sensitive diagnostic exome sequencing without the need for confirmations by Sanger sequencing

Elferink Martin, van Gassen Koen, van Tuil M., van Zon Patrick , Nijman Isaac J., van der Zwaag Bert, Ploos van Amstel Hans-Kristian 15 Jan 2015,

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