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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)

GLS hyperactivity causes glutamate excess, infantile cataract and profound developmental delay

Rumping Lynne, Tessadori Federico, Pouwels Petra J.W., Vringer Esmee, Wijnen Jannie P., Bhogal Alex A., Savelberg Sanne M.C., Duran Karen J., Bakkers Mark J.G., Ramos Rúben J.J., Schellekens Peter A.W., Kroes Hester Y., Klomp Dennis W.J., Black Graeme C.M., Taylor Rachel L., Bakkers Jeroen P.W., Prinsen Hubertus C.M.T., van der Knaap Marjo S., Dansen Tobias B., Rehmann Holger, Zwartkruis Fried J.T., Houwen Roderick H.J., van Haaften Gijs, Verhoeven-Duif Nanda M., Jans Judith J.M., van Hasselt Peter M. 1 Jan 2019, In: Human Molecular Genetics. 28 , p. 96-104 9 p.

Effective CRISPR/Cas9-based nucleotide editing in zebrafish to model human genetic cardiovascular disorders

Tessadori Federico, Roessler Helen I., Savelberg Sanne M.C., Chocron Sonja, Kamel Sarah M., Duran Karen J., Van Haelst Mieke M., Van Haaften Gijs, Bakkers Jeroen 1 Oct 2018, In: DMM Disease Models and Mechanisms. 11

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.

Cantú syndrome, the changing phenotype:a report of the two oldest Dutch patients

Roessler Helen I, Volker-Touw Catharina M L, Terhal Paulien A, van Haaften Gijs, van Haelst Mieke M Jul 2018, In: Clinical dysmorphology. 27 , p. 78-83 6 p.

The ontogeny of Robin sequence

Logjes Robrecht J H, Breugem Corstiaan C, Van Haaften Gijs, Paes Emma C, Sperber Geoffrey H, van den Boogaard Marie-José H, Farlie Peter G Jun 2018, In: American Journal of Medical Genetics. Part A. 176 , p. 1349-1368 20 p.

Intestinal Failure and Aberrant Lipid Metabolism in Patients With DGAT1 Deficiency

van Rijn Jorik M., Ardy Rico Chandra, Kuloğlu Zarife, Härter Bettina, van Haaften-Visser Désirée Y., van der Doef Hubert P.J., van Hoesel Marliek, Kansu Aydan, van Vugt Anke H.M., Thian Marini, Kokke Freddy T.M., Krolo Ana, Başaran Meryem Keçeli, Kaya Neslihan Gurcan, Aksu Aysel Ünlüsoy, Dalgıç Buket, Ozcay Figen, Baris Zeren, Kain Renate, Stigter Edwin C.A., Lichtenbelt Klaske D., Massink Maarten P.G., Duran Karen J., Verheij Joke B.G.M., Lugtenberg Dorien, Nikkels Peter G.J., Brouwer Henricus G.F., Verkade Henkjan J., Scheenstra René, Spee Bart, Nieuwenhuis Edward E.S., Coffer Paul J., Janecke Andreas R., van Haaften Gijs, Houwen Roderick H.J., Müller Thomas, Middendorp Sabine, Boztug Kaan 28 Mar 2018, In: Gastroenterology. 155 , p. 130-143.e15

KIAA1109 Variants Are Associated with a Severe Disorder of Brain Development and Arthrogryposis

Gueneau Lucie, Fish Richard J, Shamseldin Hanan E, Voisin Norine, Tran Mau-Them Frédéric, Preiksaitiene Egle, Monroe Glen R, Lai Angeline, Putoux Audrey, Allias Fabienne, Ambusaidi Qamariya, Ambrozaityte Laima, Cimbalistienė Loreta, Delafontaine Julien, Guex Nicolas, Hashem Mais, Kurdi Wesam, Jamuar Saumya Shekhar, Ying Lim J, Bonnard Carine, Pippucci Tommaso, Pradervand Sylvain, Roechert Bernd, van Hasselt Peter M, Wiederkehr Michaël, Wright Caroline F, Xenarios Ioannis, van Haaften Gijs, Shaw-Smith Charles, Schindewolf Erica M, Neerman-Arbez Marguerite, Sanlaville Damien, Lesca Gaëtan, Guibaud Laurent, Reversade Bruno, Chelly Jamel, Kučinskas Vaidutis, Alkuraya Fowzan S, Reymond Alexandre, 4 Jan 2018, In: American Journal of Human Genetics. 102 , p. 116-132 17 p.

Cantu syndrome-Associated SUR2 (ABCC9) mutations in distinct structural domains result in KATP channel gain-offunction by differential mechanisms

McClenaghan Conor, Hanson Alex, Sala-Rabanal Monica, Roessler Helen I., Josifova Dragana, Grange Dorothy K., Van Haaften Gijs, Nichols Colin G. 1 Jan 2018, In: Journal of Biological Chemistry. 293 , p. 2041-2052 12 p.

Further delineation of the GDF6 related multiple synostoses syndrome

Terhal Paulien A., Verbeek Nienke E., Knoers Nine, Nievelstein Rutger J.A.J., van den Ouweland Ans, Sakkers Ralph J , Speleman Lucienne, van Haaften Gijs 2018, In: American Journal of Medical Genetics. Part A. 176 , p. 225-229 5 p.

Germline mutations affecting the histone H4 core cause a developmental syndrome by altering DNA damage response and cell cycle control

Tessadori Federico, Giltay Jacques C., Hurst Jane A., Massink Maarten P., Duran Karen, Vos Harmjan R., van Es Robert M., Scott Richard H., Van Gassen Koen L.I., Bakkers Jeroen, Van Haaften Gijs 1 Nov 2017, In: Nature Genetics. 49 , p. 1642-1646 5 p.

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