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Associate Professor P.M. van Hasselt

Associate Professor P.M. van Hasselt

Associate Professor - medical

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Research Output (177)

Missense and truncating variants in CHD5 in a dominant neurodevelopmental disorder with intellectual disability, behavioral disturbances, and epilepsy

Parenti Ilaria, Lehalle Daphné, Nava Caroline, Torti Erin, Leitão Elsa, Person Richard, Mizuguchi Takeshi, Matsumoto Naomichi, Kato Mitsuhiro, Nakamura Kazuyuki, de Man Stella A., Cope Heidi, Shashi Vandana, Friedman Jennifer, Joset Pascal, Steindl Katharina, Rauch Anita, Muffels Irena, van Hasselt Peter M., Petit Florence, Smol Thomas, Le Guyader Gwenaël, Bilan Frédéric, Sorlin Arthur, Vitobello Antonio, Philippe Christophe, van de Laar Ingrid M.B.H., van Slegtenhorst Marjon A., Campeau Philippe M., Au Ping Yee Billie, Nakashima Mitsuko, Saitsu Hirotomo, Yamamoto Tatsuya, Nomura Yumiko, Louie Raymond J., Lyons Michael J., Dobson Amy, Plomp Astrid S., Motazacker M. Mahdi, Kaiser Frank J., Timberlake Andrew T., Fuchs Sabine A., Depienne Christel, Mignot Cyril, Acosta Maria T., Adam Margaret, Adams David R., Agrawal Pankaj B., Alejandro Mercedes E., Alvey Justin, 4 May 2021, In: Human Genetics. 140 , p. 1109-1120 12 p.

Automatic quantification of lymphocyte vacuolization in peripheral blood smears of patients with Batten's disease (CLN3 disease)

Nonkes Lourens J P, Kuper Willemijn F E, Berrens-Hogenbirk Karin, Musson Ruben E A, van Hasselt Peter M, Huisman Albert 1 Mar 2021, In: JIMD Reports. 58 , p. 100-103 4 p.

Quantifying the Effects of Hip Surgery on the Sphericity of the Femoral Head in Patients with Mucopolysaccharidosis Type I

van der Veer Eline L., Gielis Willem Paul, Weinans Harry, Beek Erik J., van Hasselt Peter M., Sakkers Ralph J.B. 12 Jan 2021, In: The Journal of bone and joint surgery. American volume. 103 , p. 489-496 8 p.

Deep intronic TIMMDC1 variant delays diagnosis of rapidly progressive complex I deficiency

Hellebrekers Debby, Nievelstein Rutger A J, van Hasselt Peter M, van Jaarsveld Richard H, Cuppen Inge, Oegema Renske Jan 2021, In: European Journal of Medical Genetics. 64 5 p.

The potential and limitations of intrahepatic cholangiocyte organoids to study inborn errors of metabolism

Lehmann Vivian, Schene Imre F., Ardisasmita Arif I., Liv Nalan, Veenendaal Tineke, Klumperman Judith, van der Doef Hubert P.J., Verkade Henkjan J., Verstegen Monique M.A., van der Laan Luc J.W., Jans Judith J.M., Verhoeven-Duif Nanda M., van Hasselt Peter M., Nieuwenhuis Edward E.S., Spee Bart, Fuchs Sabine A. 2021, In: Journal of Inherited Metabolic Disease. 45 , p. 353-365 13 p.

NAA80 bi-allelic missense variants result in high-frequency hearing loss, muscle weakness and developmental delay

Muffels Irena J J, Wiame Elsa, Fuchs Sabine A, Massink Maarten P G, Rehmann Holger, Musch Jiska L I, Van Haaften Gijs, Vertommen Didier, van Schaftingen Emile, van Hasselt Peter M 2021, In: Brain communications. 3 , p. 1-14

B-cell depletion abrogates immune mediated cytopenia and rejection of cord blood transplantation in Hurler syndrome

Nataraj R., Hiwarkar P., Bonney D., Campbell H., Jones S., Deambrosis D., Evans P., Poulton K., van Hasselt P. M., Bierings Mb, Boelens J. J., Lindemans C. A., Wynn R. 2021, In: Bone Marrow Transplantation. 57 , p. 38-42 5 p.

High protein prescription in methylmalonic and propionic acidemia patients and its negative association with long-term outcome

Molema F, Haijes H A, Janssen M C, Bosch A M, van Spronsen F J, Mulder M F, Verhoeven-Duif N M, Jans J J M, van der Ploeg A T, Wagenmakers M A, Rubio-Gozalbo M E, Brouwers M C G J, de Vries M C, Fuchs S, Langendonk J G, Rizopoulos D, van Hasselt P M, Williams M 25 Dec 2020, In: Clinical Nutrition. 40 , p. 3622-3630 9 p.

Prime editing for functional repair in patient-derived disease models

Schene Imre F, Joore Indi P, Oka Rurika, Mokry Michal, van Vugt Anke H M, van Boxtel Ruben, van der Doef Hubert P J, van der Laan Luc J W, Verstegen Monique M A, van Hasselt Peter M, Nieuwenhuis Edward E S, Fuchs Sabine A 1 Dec 2020, In: Nature Communications. 11

Quantifying lymphocyte vacuolization serves as a measure of CLN3 disease severity

Kuper Willemijn F E, Oostendorp Marlies, van den Broek Brigitte T A, van Veghel Karin, Nonkes Lourens J P, Nieuwenhuis Edward E S, Fuchs Sabine A, Veenendaal Tineke, Klumperman Judith, Huisman Albert, Nierkens Stefan, van Hasselt Peter M Jul 2020, In: JIMD Reports. 54 , p. 87-97 11 p.

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