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dr. G.W. (Gijs) van Haaften

dr. G.W. (Gijs) van Haaften

Associate Professor

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Research Output (102)

A de novo variant in the human HIST1H4J gene causes a syndrome analogous to the HIST1H4C-associated neurodevelopmental disorder

Tessadori Federico, Rehman Atteeq U, Giltay Jacques C, Xia Fan, Streff Haley, Duran Karen, Bakkers Jeroen, Lalani Seema R, van Haaften Gijs May 2020, In: European Journal of Human Genetics. 28 , p. 674-678 5 p.

Pyridox(am)ine 5'-phosphate oxidase (PNPO) deficiency in zebrafish results in fatal seizures and metabolic aberrations

Ciapaite Jolita, Albersen Monique, Savelberg Sanne M C, Bosma Marjolein, Tessadori Federico, Gerrits Johan, Lansu Nico, Zwakenberg Susan, Bakkers Jeroen P W, Zwartkruis Fried J T, van Haaften Gijs, Jans Judith J, Verhoeven-Duif Nanda M 1 Mar 2020, In: Biochimica et Biophysica Acta. Molecular Basis of Disease. 1866 11 p.

Metabolic fingerprinting reveals extensive consequences of GLS hyperactivity

Rumping Lynne, Pras-Raves Mia L, Gerrits Johan, Tang Yuen Fung, Willemsen Marcel A, Houwen Roderick H J, van Haaften Gijs, van Hasselt Peter M, Verhoeven-Duif Nanda M, Jans Judith J M 1 Mar 2020, In: Biochimica et biophysica acta-General subjects. 1864 , p. 1-7

Cantú syndrome:Findings from 74 patients in the International Cantú Syndrome Registry

Grange Dorothy K., Roessler Helen I., McClenaghan Conor, Duran Karen, Shields Kathleen, Remedi Maria S., Knoers Nine V.A.M., Lee Jin Moo, Kirk Edwin P., Scurr Ingrid, Smithson Sarah F., Singh Gautam K., van Haelst Mieke M., Nichols Colin G., van Haaften Gijs 1 Dec 2019, In: American Journal of Medical Genetics, Part C: Seminars in Medical Genetics. 181 , p. 658-681 24 p.

EML1-associated brain overgrowth syndrome with ribbon-like heterotopia

Oegema Renske, McGillivray George, Leventer Richard, Le Moing Anne-Gaëlle, Bahi-Buisson Nadia, Barnicoat Angela, Mandelstam Simone, Francis David, Francis Fiona, Mancini Grazia M S, Savelberg Sanne, van Haaften Gijs, Mankad Kshitij, Lequin Maarten H 11 Nov 2019, In: American Journal of Medical Genetics. Part C, Seminars in Medical Genetics. 181 , p. 627-637 11 p.

ABCC9-related Intellectual disability Myopathy Syndrome is a KATP channelopathy with loss-of-function mutations in ABCC9

Smeland Marie F, McClenaghan Conor, Roessler Helen I, Savelberg Sanne, Hansen Geir Åsmund Myge, Hjellnes Helene, Arntzen Kjell Arne, Müller Kai Ivar, Dybesland Andreas Rosenberger, Harter Theresa, Sala-Rabanal Monica, Emfinger Chris H, Huang Yan, Singareddy Soma S, Gunn Jamie, Wozniak David F, Kovacs Attila, Massink Maarten, Tessadori Federico, Kamel Sarah M, Bakkers Jeroen, Remedi Maria S, Van Ghelue Marijke, Nichols Colin G, van Haaften Gijs 1 Oct 2019, In: Nature Communications. 10

Glibenclamide and HMR1098 normalize Cantú syndrome-associated gain-of-function currents

Houtman Marien J C, Chen Xingyu, Qile Muge, Duran Karen, van Haaften Gijs, Stary-Weinzinger Anna, van der Heyden Marcel A G 1 Aug 2019, In: Journal of Cellular and Molecular Medicine. 23 , p. 4962-4969 8 p.

Identification of human D lactate dehydrogenase deficiency

Monroe Glen R, van Eerde Albertien M, Tessadori Federico, Duran Karen J, Savelberg Sanne M C, van Alfen Johanna C, Terhal Paulien A, van der Crabben Saskia N, Lichtenbelt Klaske D, Fuchs Sabine A, Gerrits Johan, van Roosmalen Markus J, van Gassen Koen L, van Aalderen Mirjam, Koot Bart G, Oostendorp Marlies, Duran Marinus, Visser Gepke, de Koning Tom J, Calì Francesco, Bosco Paolo, Geleijns Karin, de Sain-van der Velden Monique G M, Knoers Nine V, Bakkers Jeroen, Verhoeven-Duif Nanda M, van Haaften Gijs, Jans Judith J 1 Apr 2019, In: Nature Communications. 10

Impaired EIF2S3 function associated with a novel phenotype of X-linked hypopituitarism with glucose dysregulation

Gregory Louise C., Ferreira Carolina B., Young-Baird Sara K., Williams Hywel J., Harakalova Magdalena, van Haaften Gijs, Rahman Sofia A., Gaston-Massuet Carles, Kelberman Daniel, GOSgene , Qasim Waseem, Camper Sally A., Dever Thomas E., Shah Pratik, Robinson Iain C.A.F., Dattani Mehul T. 1 Apr 2019, In: EBioMedicine. 42 , p. 470-480 11 p.

Natural helix 9 mutants of PPARγ differently affect its transcriptional activity

Broekema Marjoleine F., Massink Maarten P.G., Donato Cinzia, de Ligt Joep, Schaarschmidt Joerg, Borgman Anouska, Schooneman Marieke G., Melchers Diana, Gerding Martin N., Houtman René, Bonvin Alexandre M.J.J., Majithia Amit R., Monajemi Houshang, van Haaften Gijs W., Soeters Maarten R., Kalkhoven Eric 1 Feb 2019, In: Molecular Metabolism. 20 , p. 115-127 13 p.

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