Works by van Haaften, Gijs

Results: 35
    1

    A de novo deletion underlying spinal muscular atrophy: implications for carrier testing and genetic counseling Open Access.

    Published in:
    Human Molecular Genetics, 2025, v. 34, n. 10, p. 894, doi. 10.1093/hmg/ddaf035
    By:
    • Zwartkruis, Maria M;
    • Pagter, Mirjam S de;
    • Gommers, Demi;
    • Koopmans, Marije;
    • Ottenheim, Cecile P E;
    • Kortooms, Joris V;
    • Albring, Mirjan;
    • Elferink, Martin G;
    • Wadman, Renske I;
    • Asselman, Fay-Lynn;
    • Cuppen, Inge;
    • Pol, W Ludo van der;
    • Nelen, Marcel R;
    • Haaften, Gijs W van;
    • Groen, Ewout J N
    Publication type:
    Article
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    A Single Complex Agpat2 Allele in a Patient With Partial Lipodystrophy.

    Published in:
    Frontiers in Physiology, 2018, p. N.PAG, doi. 10.3389/fphys.2018.01363
    By:
    • Broekema, Marjoleine F.;
    • Massink, Maarten P. G.;
    • De Ligt, Joep;
    • Stigter, Edwin C. A.;
    • Monajemi, Houshang;
    • De Ridder, Jeroen;
    • Burgering, Boudewijn M. T.;
    • van Haaften, Gijs W.;
    • Kalkhoven, Eric
    Publication type:
    Article
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    In Vitro Systematic Drug Testing Reveals Carboplatin, Paclitaxel, and Alpelisib as a Potential Novel Combination Treatment for Adult Granulosa Cell Tumors.

    Published in:
    Cancers, 2021, v. 13, n. 3, p. 368, doi. 10.3390/cancers13030368
    By:
    • Roze, Joline;
    • Sendino Garví, Elena;
    • Stelloo, Ellen;
    • Stangl, Christina;
    • Sereno, Ferdinando;
    • Duran, Karen;
    • Groeneweg, Jolijn;
    • Paijens, Sterre;
    • Nijman, Hans;
    • van Meurs, Hannah;
    • van Lonkhuijzen, Luc;
    • Piek, Jurgen;
    • Lok, Christianne;
    • Jonges, Geertruida;
    • Witteveen, Petronella;
    • Verheijen, René;
    • van Haaften, Gijs;
    • Zweemer, Ronald;
    • Monroe, Glen
    Publication type:
    Article
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    Recurrent Respiratory Syncytial Virus Infection in a CD14-Deficient Patient.

    Published in:
    2022
    By:
    • Besteman, Sjanna B;
    • Phung, Emily;
    • Raeven, Henriette H M;
    • Amatngalim, Gimano D;
    • Rumpret, Matevž;
    • Crabtree, Juliet;
    • Schepp, Rutger M;
    • Rodenburg, Lisa W;
    • Siemonsma, Susanna G;
    • Verleur, Nile;
    • Slooten, Rianne van;
    • Duran, Karen;
    • Haaften, Gijs W van;
    • Beekman, Jeffrey M;
    • Chang, Lauren A;
    • Meyaard, Linde;
    • van der Bruggen, Tjomme;
    • Berbers, Guy A M;
    • Derksen, Nicole;
    • Nierkens, Stefan
    Publication type:
    journal article
    13

    Craniotubular Dysplasia Ikegawa Type: Further Delineation of the Phenotype.

    Published in:
    American Journal of Medical Genetics. Part A, 2025, v. 197, n. 2, p. 1, doi. 10.1002/ajmg.a.63870
    By:
    • van Ommeren, Babeth;
    • Hoekstra, Maud;
    • van Gassen, Koen;
    • van Jaarsveld, Richard;
    • van Haaften, Gijs;
    • Mathijssen, Irene;
    • Dammers, Ruben;
    • van Veelen, Marie‐Lise;
    • Baars, Rolanda;
    • Giltay, Jacques C.
    Publication type:
    Article
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    Further delineation of the KBG syndrome caused by ANKRD11 aberrations.

    Published in:
    European Journal of Human Genetics, 2015, v. 23, n. 9, p. 1270, doi. 10.1038/ejhg.2015.130
    By:
    • Ockeloen, Charlotte W;
    • Willemsen, Marjolein H;
    • de Munnik, Sonja;
    • van Bon, Bregje WM;
    • de Leeuw, Nicole;
    • Verrips, Aad;
    • Kant, Sarina G;
    • Jones, Elizabeth A;
    • Brunner, Han G;
    • van Loon, Rosa LE;
    • Smeets, Eric EJ;
    • van Haelst, Mieke M;
    • van Haaften, Gijs;
    • Nordgren, Ann;
    • Malmgren, Helena;
    • Grigelioniene, Giedre;
    • Vermeer, Sascha;
    • Louro, Pedro;
    • Ramos, Lina;
    • Maal, Thomas JJ
    Publication type:
    Article
    20

    Further delineation of the KBG syndrome phenotype caused by ANKRD11 aberrations.

    Published in:
    European Journal of Human Genetics, 2015, v. 23, n. 9, p. 1176, doi. 10.1038/ejhg.2014.253
    By:
    • Ockeloen, Charlotte W;
    • Willemsen, Marjolein H;
    • de Munnik, Sonja;
    • van Bon, Bregje WM;
    • de Leeuw, Nicole;
    • Verrips, Aad;
    • Kant, Sarina G;
    • Jones, Elizabeth A;
    • Brunner, Han G;
    • van Loon, Rosa LE;
    • Smeets, Eric EJ;
    • van Haelst, Mieke M;
    • van Haaften, Gijs;
    • Nordgren, Ann;
    • Malmgren, Helena;
    • Grigelioniene, Giedre;
    • Vermeer, Sascha;
    • Louro, Pedro;
    • Ramos, Lina;
    • Maal, Thomas JJ
    Publication type:
    Article
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    Heterozygous KIDINS220/ARMS nonsense variants cause spastic paraplegia, intellectual disability, nystagmus, and obesity.

    Published in:
    Human Molecular Genetics, 2016, v. 25, n. 11, p. 2158, doi. 10.1093/hmg/ddw082
    By:
    • Josifova, Dragana J.;
    • Monroe, Glen R.;
    • Tessadori, Federico;
    • Graaff, Esther de;
    • van der Zwaag2, Bert;
    • Mehta, Sarju G.;
    • Harakalova, Magdalena;
    • Duran, Karen J.;
    • Savelberg, Sanne M.C.;
    • Nijman, Isaäc J.;
    • Jungbluth, Heinz;
    • Hoogenraad, Casper C.;
    • Bakkers, Jeroen;
    • Knoers, Nine V.;
    • Firth, Helen V.;
    • Beales, Philip L.;
    • Haaften, Gijs van;
    • van Haelst, Mieke M.
    Publication type:
    Article
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    Phenotypic variability in patients with ADA2 deficiency due to identical homozygous R169Q mutations.

    Published in:
    Rheumatology, 2016, v. 55, n. 5, p. 902, doi. 10.1093/rheumatology/kev439
    By:
    • Van Montfrans, Joris M.;
    • Hartman, Esther A. R.;
    • Braun, Kees P. J.;
    • Hennekam, Eric A. M.;
    • Hak, Elisabeth A.;
    • Nederkoorn, Paul J.;
    • Westendorp, Willeke F.;
    • Bredius, Robbert G. M.;
    • Kollen, Wouter J. W.;
    • Schölvinck, Elisabeth H.;
    • Legger, G. Elizabeth;
    • Meyts, Isabelle;
    • Liston, Adrian;
    • Lichtenbelt, Klaske D.;
    • Giltay, Jacques C.;
    • Van Haaften, Gijs;
    • De Vries Simons, Gaby M.;
    • Leavis, Helen;
    • Sanders, Cornelis J. G.;
    • Bierings, Marc B.
    Publication type:
    Article
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    The ontogeny of Robin sequence.

    Published in:
    American Journal of Medical Genetics. Part A, 2018, v. 176, n. 6, p. 1349, doi. 10.1002/ajmg.a.38718
    By:
    • 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.
    Publication type:
    Article
    29

    Further delineation of the GDF6 related multiple synostoses syndrome.

    Published in:
    American Journal of Medical Genetics. Part A, 2018, v. 176, n. 1, p. 225, doi. 10.1002/ajmg.a.38503
    By:
    • 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
    Publication type:
    Article
    30

    Familial Ehlers-Danlos syndrome with lethal arterial events caused by a mutation in COL5A1.

    Published in:
    American Journal of Medical Genetics. Part A, 2015, v. 167A, n. 6, p. 1196, doi. 10.1002/ajmg.a.36997
    By:
    • Monroe, Glen R;
    • Harakalova, Magdalena;
    • van der Crabben, Saskia N;
    • Majoor‐Krakauer, Danielle;
    • Bertoli‐Avella, Aida M;
    • Moll, Frans L;
    • Oranen, Björn I;
    • Dooijes, Dennis;
    • Vink, Aryan;
    • Knoers, Nine V;
    • Maugeri, Alessandra;
    • Pals, Gerard;
    • Nijman, Isaac J;
    • van Haaften, Gijs;
    • Baas, Annette F
    Publication type:
    Article
    31

    Expanding the spectrum of phenotypes associated with germline PIGA mutations: A child with developmental delay, accelerated linear growth, facial dysmorphisms, elevated alkaline phosphatase, and progressive CNS abnormalities.

    Published in:
    American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 1, p. 29, doi. 10.1002/ajmg.a.36184
    By:
    • van der Crabben, Saskia N.;
    • Harakalova, Magdalena;
    • Brilstra, Eva H.;
    • van Berkestijn, Frédérique M.C.;
    • Hofstede, Floris C.;
    • van Vught, Adrianus J.;
    • Cuppen, Edwin;
    • Kloosterman, Wigard;
    • Ploos van Amstel, Hans Kristian;
    • van Haaften, Gijs;
    • van Haelst, Mieke M.
    Publication type:
    Article
    32

    Somatic mutations of the histone H3K27 demethylase gene UTX in human cancer.

    Published in:
    Nature Genetics, 2009, v. 41, n. 5, p. 521, doi. 10.1038/ng.349
    By:
    • van Haaften, Gijs;
    • Dalgliesh, Gillian L.;
    • Davies, Helen;
    • Chen, Lina;
    • Bignell, Graham;
    • Greenman, Chris;
    • Edkins, Sarah;
    • Hardy, Claire;
    • O'Meara, Sarah;
    • Teague, Jon;
    • Butler, Adam;
    • Hinton, Jonathan;
    • Latimer, Calli;
    • Andrews, Jenny;
    • Barthorpe, Syd;
    • Beare, Dave;
    • Buck, Gemma;
    • Campbell, Peter J.;
    • Cole, Jennifer;
    • Forbes, Simon
    Publication type:
    Article
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    Synaptic UNC13A protein variant causes increased neurotransmission and dyskinetic movement disorder.

    Published in:
    2017
    By:
    • Lipstein, Noa;
    • Verhoeven-Duif, Nanda M.;
    • Michelassi, Francesco E.;
    • Calloway, Nathaniel;
    • van Hasselt, Peter M.;
    • Pienkowska, Katarzyna;
    • van Haaften, Gijs;
    • van Haelst, Mieke M.;
    • van Empelen, Ron;
    • Cuppen, Inge;
    • van Teeseling, Heleen C.;
    • Evelein, Annemieke M. V.;
    • Vorstman, Jacob A.;
    • Thoms, Sven;
    • Jahn, Olaf;
    • Duran, Karen J.;
    • Monroe, Glen R.;
    • Ryan, Timothy A.;
    • Taschenberger, Holger;
    • Dittman, Jeremy S.
    Publication type:
    journal article