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A versatile microsatellite instability reporter system in human cells.
Published in:
Nucleic Acids Research, 2013, v. 41, n. 16, p. e158, doi. 10.1093/nar/gkt615
By:
- Koole, Wouter;
- Schäfer, Henning S.;
- Agami, Reuven;
- van Haaften, Gijs;
- Tijsterman, Marcel
Publication type:
Article
Identification of candidate genes for developmental colour agnosia in a single unique family.
Published in:
PLoS ONE, 2023, v. 18, n. 9, p. 1, doi. 10.1371/journal.pone.0290013
By:
- Nijboer, Tanja C. W.;
- Hessel, Ellen V. S.;
- van Haaften, Gijs W.;
- van Zandvoort, Martine J.;
- van der Spek, Peter J.;
- Troelstra, Christine;
- de Kovel, Carolien G. F.;
- Koeleman, Bobby P. C.;
- van der Zwaag, Bert;
- Brilstra, Eva H.;
- Burbach, J. Peter H.
Publication type:
Article
Concurrent de novo ZFHX4 variant and 16q24.1 deletion in a patient with orofacial clefting; a potential role of ZFHX4 and USP10.
Published in:
American Journal of Medical Genetics. Part A, 2023, v. 191, n. 4, p. 1083, doi. 10.1002/ajmg.a.63101
By:
- Créton, Marijn;
- Wagener, Frank;
- Massink, Maarten;
- Fennis, Willem;
- Bloemen, Marjon;
- Schols, Jan;
- Aarts, Miranda;
- van der Molen, Aebele Mink;
- van Haaften, Gijs;
- van den Boogaard, Marie José
Publication type:
Article
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
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
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
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
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
Germline mutations in RYR1 are associated with foetal akinesia deformation sequence/lethal multiple pterygium syndrome.
Published in:
Acta Neuropathologica Communications, 2014, v. 2, n. 1, p. 1, doi. 10.1186/s40478-014-0148-0
By:
- McKie, Arthur;
- Alsaedi, Atif;
- Vogt, Julie;
- Stuurman, Kyra;
- Weiss, Marjan;
- Shakeel, Hassan;
- Tee, Louise;
- Morgan, Neil;
- Nikkels, Peter;
- van Haaften, Gijs;
- Park, Soo-Mi;
- van der Smagt, Jasper;
- Bugiani, Marianna;
- Maher, Eamonn
Publication type:
Article
Genomic instability and cancer: scanning the Caenorhabditis elegans genome for tumor suppressors.
Published in:
Oncogene, 2004, v. 23, n. 51, p. 8366, doi. 10.1038/sj.onc.1208011
By:
- van Haaften, Gijs;
- Plasterk, Ronald HA;
- Tijsterman, Marcel
Publication type:
Article
Familial Occurrence of Adult Granulosa Cell Tumors: Analysis of Whole-Genome Germline Variants.
Published in:
Cancers, 2021, v. 13, n. 10, p. 2430, doi. 10.3390/cancers13102430
By:
- Roze, Joline F.;
- Kutzera, Joachim;
- Koole, Wouter;
- Ausems, Margreet G. E. M.;
- Engelstad, Kristi;
- Piek, Jurgen M. J.;
- de Kroon, Cor D.;
- Verheijen, René H. M.;
- van Haaften, Gijs;
- Zweemer, Ronald P.;
- Monroe, Glen R.;
- Desouki, Mohamed Mokhtar;
- Fadare, Oluwole
Publication type:
Article
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
Whole Genome Analysis of Ovarian Granulosa Cell Tumors Reveals Tumor Heterogeneity and a High-Grade TP53-Specific Subgroup.
Published in:
Cancers, 2020, v. 12, n. 5, p. 1308, doi. 10.3390/cancers12051308
By:
- Roze, Joline;
- Monroe, Glen;
- Kutzera, Joachim;
- Groeneweg, Jolijn;
- Stelloo, Ellen;
- 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
Publication type:
Article
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
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
Further confirmation of the MED13L haploinsufficiency syndrome.
Published in:
European Journal of Human Genetics, 2015, v. 23, n. 1, p. 135, doi. 10.1038/ejhg.2014.69
By:
- van Haelst, Mieke M;
- Monroe, Glen R;
- Duran, Karen;
- van Binsbergen, Ellen;
- Breur, Johannes M;
- Giltay, Jacques C;
- van Haaften, Gijs
Publication type:
Article
RAP-1 and the RAL-1/exocyst pathway coordinate hypodermal cell organization in Caenorhabditis elegans.
Published in:
EMBO Journal, 2007, v. 26, n. 24, p. 5083, doi. 10.1038/sj.emboj.7601922
By:
- Frische, Ester W.;
- Pellis-van Berkel, Wendy;
- van Haaften, Gijs;
- Cuppen, Edwin;
- Plasterk, Ronald H. A.;
- Tijsterman, Marcel;
- Bos, Johannes L.;
- Zwartkruis, Fried J. T.
Publication type:
Article
PA-6 inhibits inward rectifier currents carried by V93I and D172N gain-of-function K<sub>IR</sub>2.1 channels, but increases channel protein expression.
Published in:
Journal of Biomedical Science, 2017, v. 24, p. 1, doi. 10.1186/s12929-017-0352-x
By:
- Yuan Ji;
- Veldhuis, Marlieke G.;
- Zandvoort, Jantien;
- Romunde, Fee L.;
- Houtman, Marien J. C.;
- Duran, Karen;
- van Haaften, Gijs;
- Zangerl-Plessl, Eva-Maria;
- Hiroki Takanari;
- Stary-Weinzinger, Anna;
- van der Heyden, Marcel A. G.
Publication type:
Article
Rapid Prenatal Testing Using Semiconductor Sequencing?
Published in:
Clinical Chemistry, 2013, v. 59, n. 5, p. 735, doi. 10.1373/clinchem.2013.203299
By:
- van Haaften, Gijs
Publication type:
Article
Glibenclamide reverses cardiovascular abnormalities of Cantu syndrome driven by KATP channel overactivity.
Published in:
2020
By:
- McClenaghan, Conor;
- Yan Huang;
- Zihan Yan;
- Harter, Theresa M.;
- Halabi, Carmen M.;
- Chalk, Rod;
- Kovacs, Attila;
- van Haaften, Gijs;
- Remedi, Maria S.;
- Nichols, Colin G.;
- Huang, Yan;
- Yan, Zihan;
- Harter, Theresa
Publication type:
journal article
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
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
E2F mediates enhanced alternative polyadenylation in proliferation.
Published in:
Genome Biology, 2012, v. 13, n. 7, p. 1, doi. 10.1186/gb-2012-13-7-r59
By:
- Elkon, Ran;
- Drost, Jarno;
- Van Haaften, Gijs;
- Jenal, Mathias;
- Schrier, Mariette;
- Oude Vrielink, Joachim A.F.;
- Agami, Reuven
Publication type:
Article
E2F mediates enhanced alternative polyadenylation in proliferation.
Published in:
Genome Biology, 2012, v. 13, n. 7, p. 1, doi. 10.1186/gb-2012-13-7-r59
By:
- Elkon, Ran;
- Drost, Jarno;
- Haaften, Gijs van;
- Jenal, Mathias;
- Schrier, Mariette;
- Oude Vrielink, Joachim A.F.;
- Agami, Reuven
Publication type:
Article
New insights in phenotype and treatment of lung disease immuno-deficiency and chromosome breakage syndrome (LICS).
Published in:
2021
By:
- Willemse, Brigitte W. M.;
- van der Crabben, Saskia N.;
- Kerstjens-Frederikse, Wilhelmina S.;
- Timens, Wim;
- van Montfrans, Joris M.;
- Lindemans, Caroline A.;
- Boelens, Jaap Jan;
- Hennus, Marije P.;
- van Haaften, Gijs
Publication type:
Letter
NAA80 bi-allelic missense variants result in high-frequency hearing loss, muscle weakness and developmental delay.
Published in:
Brain Communications, 2021, v. 3, n. 4, p. 1, doi. 10.1093/braincomms/fcab256
By:
- 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.
Publication type:
Article
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
ATP-sensitive potassium channels in zebrafish cardiac and vascular smooth muscle.
Published in:
Journal of Physiology, 2022, v. 600, n. 2, p. 299, doi. 10.1113/JP282157
By:
- Singareddy, Soma S.;
- Roessler, Helen I.;
- McClenaghan, Conor;
- Ikle, Jennifer M.;
- Tryon, Robert C.;
- van Haaften, Gijs;
- Nichols, Colin G.
Publication type:
Article
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
CRISPR‐Cas9 enrichment, a new strategy in microbial metagenomics to investigate complex genomic regions: The case of an environmental integron.
Published in:
Molecular Ecology Resources, 2023, v. 23, n. 6, p. 1288, doi. 10.1111/1755-0998.13798
By:
- Sandoval‐Quintana, Eva;
- Stangl, Christina;
- Huang, Lionel;
- Renkens, Ivo;
- Duran, Robert;
- van Haaften, Gijs;
- Monroe, Glen;
- Lauga, Béatrice;
- Cagnon, Christine
Publication type:
Article
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
Partner independent fusion gene detection by multiplexed CRISPR-Cas9 enrichment and long read nanopore sequencing.
Published in:
Nature Communications, 2020, v. 11, n. 1, p. 1, doi. 10.1038/s41467-020-16641-7
By:
- Stangl, Christina;
- de Blank, Sam;
- Renkens, Ivo;
- Westera, Liset;
- Verbeek, Tamara;
- Valle-Inclan, Jose Espejo;
- González, Rocio Chamorro;
- Henssen, Anton G.;
- van Roosmalen, Markus J.;
- Stam, Ronald W.;
- Voest, Emile E.;
- Kloosterman, Wigard P.;
- van Haaften, Gijs;
- Monroe, Glen R.
Publication type:
Article

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