De Novo Mutations in CHD4, an ATP-Dependent Chromatin Remodeler Gene, Cause an Intellectual Disability Syndrome with Distinctive Dysmorphisms
Weiss, Karin, Terhal, Paulien A., Cohen, Lior, Bruccoleri, Michael, Irving, Melita, Martinez, Ariel F., Rosenfeld, Jill A., Machol, Keren, Yang, Yaping, Liu, Pengfei, Walkiewicz, Magdalena, Beuten, Joke, Gomez-Ospina, Natalia, Haude, Katrina, Fong, Chin-To, Enns, Gregory M., Bernstein, Jonathan A., Fan, Judith, Gotway, Garrett, Ghorbani, Mohammad, van Gassen, Koen, Monroe, Glen R., van Haaften, Gijs, Basel-Vanagaite, Lina, Yang, Xiang-Jiao, Campeau, Philippe M., Muenke, Maximilian
Published in American journal of human genetics (06.10.2016)
Published in American journal of human genetics (06.10.2016)
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Journal Article
Loss of Syntaxin 3 Causes Variant Microvillus Inclusion Disease
Wiegerinck, Caroline L, Janecke, Andreas R, Schneeberger, Kerstin, Vogel, Georg F, van Haaften–Visser, Désirée Y, Escher, Johanna C, Adam, Rüdiger, Thöni, Cornelia E, Pfaller, Kristian, Jordan, Alexander J, Weis, Cleo–Aron, Nijman, Isaac J, Monroe, Glen R, van Hasselt, Peter M, Cutz, Ernest, Klumperman, Judith, Clevers, Hans, Nieuwenhuis, Edward E.S, Houwen, Roderick H.J, van Haaften, Gijs, Hess, Michael W, Huber, Lukas A, Stapelbroek, Janneke M, Müller, Thomas, Middendorp, Sabine
Published in Gastroenterology (New York, N.Y. 1943) (01.07.2014)
Published in Gastroenterology (New York, N.Y. 1943) (01.07.2014)
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Journal Article
Partner independent fusion gene detection by multiplexed CRISPR-Cas9 enrichment and long read nanopore sequencing
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.
Published in Nature communications (05.06.2020)
Published in Nature communications (05.06.2020)
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Journal Article
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
Published in American journal of human genetics (04.01.2018)
Published in American journal of human genetics (04.01.2018)
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Journal Article
Synaptic UNC13A protein variant causes increased neurotransmission and dyskinetic movement disorder
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, Rhee, Jeong-Seop, Visser, Gepke, Jans, Judith J, Brose, Nils
Published in The Journal of clinical investigation (01.03.2017)
Published in The Journal of clinical investigation (01.03.2017)
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Journal Article
Effectiveness of whole-exome sequencing and costs of the traditional diagnostic trajectory in children with intellectual disability
Monroe, Glen R., Frederix, Gerardus W., Savelberg, Sanne M. C., de Vries, Tamar I., Duran, Karen J., van der Smagt, Jasper J., Terhal, Paulien A., van Hasselt, Peter M., Kroes, Hester Y., Verhoeven-Duif, Nanda M., Nijman, Isaäc J., Carbo, Ellen C., van Gassen, Koen L., Knoers, Nine V., Hövels, Anke M., van Haelst, Mieke M., Visser, Gepke, van Haaften, Gijs
Published in Genetics in medicine (01.09.2016)
Published in Genetics in medicine (01.09.2016)
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Journal Article
Whole-exome sequencing in intellectual disability; cost before and after a diagnosis
Vrijenhoek, Terry, Middelburg, Eline M, Monroe, Glen R, van Gassen, Koen L I, Geenen, Joost W, Hövels, Anke M, Knoers, Nine V, van Amstel, Hans Kristian Ploos, Frederix, Gerardus W J
Published in European journal of human genetics : EJHG (01.11.2018)
Published in European journal of human genetics : EJHG (01.11.2018)
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Journal Article
FOXL2 and TERT promoter mutation detection in circulating tumor DNA of adult granulosa cell tumors as biomarker for disease monitoring
Groeneweg, Jolijn W., Roze, Joline F., Peters, Edith D.J., Sereno, Ferdinando, Brink, Anna G.J., Paijens, Sterre T., Nijman, Hans W., van Meurs, Hannah S., van Lonkhuijzen, Luc R.C.W., Piek, Jurgen M.J., Lok, Christianne A.R., Monroe, Glen R., van Haaften, Gijs W., Zweemer, Ronald P.
Published in Gynecologic oncology (01.08.2021)
Published in Gynecologic oncology (01.08.2021)
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Journal Article
Prioritization and burden analysis of rare variants in 208 candidate genes suggest they do not play a major role in CAKUT
Nicolaou, Nayia, Pulit, Sara L., Nijman, Isaac J., Monroe, Glen R., Feitz, Wout F.J., Schreuder, Michiel F., van Eerde, Albertien M., de Jong, Tom P.V.M., Giltay, Jacques C., van der Zwaag, Bert, Havenith, Marlies R., Zwakenberg, Susan, van der Zanden, Loes F.M., Poelmans, Geert, Cornelissen, Elisabeth A.M., Lilien, Marc R., Franke, Barbara, Roeleveld, Nel, van Rooij, Iris A.L.M., Cuppen, Edwin, Bongers, Ernie M.H.F., Giles, Rachel H., Knoers, Nine V.A.M., Renkema, Kirsten Y.
Published in Kidney international (01.02.2016)
Published in Kidney international (01.02.2016)
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Journal Article
Monocarboxylate Transporter 1 Deficiency and Ketone Utilization
van Hasselt, Peter M, Ferdinandusse, Sacha, Monroe, Glen R, Ruiter, Jos P.N, Turkenburg, Marjolein, Geerlings, Maartje J, Duran, Karen, Harakalova, Magdalena, van der Zwaag, Bert, Monavari, Ardeshir A, Okur, Ilyas, Sharrard, Mark J, Cleary, Maureen, O’Connell, Nuala, Walker, Valerie, Rubio-Gozalbo, M. Estela, de Vries, Maaike C, Visser, Gepke, Houwen, Roderick H.J, van der Smagt, Jasper J, Verhoeven-Duif, Nanda M, Wanders, Ronald J.A, van Haaften, Gijs
Published in The New England journal of medicine (13.11.2014)
Published in The New England journal of medicine (13.11.2014)
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Journal Article
Joubert syndrome: genotyping a Northern European patient cohort
Kroes, Hester Y, Monroe, Glen R, van der Zwaag, Bert, Duran, Karen J, de Kovel, Carolien G, van Roosmalen, Mark J, Harakalova, Magdalena, Nijman, Ies J, Kloosterman, Wigard P, Giles, Rachel H, Knoers, Nine V A M, van Haaften, Gijs
Published in European journal of human genetics : EJHG (01.02.2016)
Published in European journal of human genetics : EJHG (01.02.2016)
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Journal Article
Heterozygous KIDINS220/ARMS nonsense variants cause spastic paraplegia, intellectual disability, nystagmus, and obesity
Josifova, Dragana J, Monroe, Glen R, Tessadori, Federico, de Graaff, Esther, van der Zwaag, 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, van Haaften, Gijs, van Haelst, Mieke M
Published in Human molecular genetics (01.06.2016)
Published in Human molecular genetics (01.06.2016)
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Journal Article
Whole Genome Analysis of Ovarian Granulosa Cell Tumors Reveals Tumor Heterogeneity and a High-Grade TP53-Specific Subgroup
Roze, Joline, Monroe, Glen, Kutzera, Joachim, Groeneweg, Jolijn, Stelloo, Ellen, Paijens, Sterre, Nijman, Hans, Meurs, Hannah van, Lonkhuijzen, Luc van, Piek, Jurgen, Lok, Christianne, Jonges, Geertruida, Witteveen, Petronella, Verheijen, René, Haaften, Gijs van, Zweemer, Ronald
Published in Cancers (21.05.2020)
Published in Cancers (21.05.2020)
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Journal Article
Mosaic CREBBP mutation causes overlapping clinical features of Rubinstein-Taybi and Filippi syndromes
de Vries, Tamar I, Monroe, Glen R, van Belzen, Martine J, van der Lans, Christian A, Savelberg, Sanne Mc, Newman, William G, van Haaften, Gijs, Nievelstein, Rutger A, van Haelst, Mieke M
Published in European journal of human genetics : EJHG (01.08.2016)
Published in European journal of human genetics : EJHG (01.08.2016)
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Journal Article
Dwarfism with joint laxity in Friesian horses is associated with a splice site mutation in B4GALT7
Leegwater, Peter A, Vos-Loohuis, Manon, Ducro, Bart J, Boegheim, Iris J, van Steenbeek, Frank G, Nijman, Isaac J, Monroe, Glen R, Bastiaansen, John W M, Dibbits, Bert W, van de Goor, Leanne H, Hellinga, Ids, Back, Willem, Schurink, Anouk
Published in BMC genomics (28.10.2016)
Published in BMC genomics (28.10.2016)
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Journal Article
MKS1 regulates ciliary INPP5E levels in Joubert syndrome
Slaats, Gisela G, Isabella, Christine R, Kroes, Hester Y, Dempsey, Jennifer C, Gremmels, Hendrik, Monroe, Glen R, Phelps, Ian G, Duran, Karen J, Adkins, Jonathan, Kumar, Sairam A, Knutzen, Dana M, Knoers, Nine V, Mendelsohn, Nancy J, Neubauer, David, Mastroyianni, Sotiria D, Vogt, Julie, Worgan, Lisa, Karp, Natalya, Bowdin, Sarah, Glass, Ian A, Parisi, Melissa A, Otto, Edgar A, Johnson, Colin A, Hildebrandt, Friedhelm, van Haaften, Gijs, Giles, Rachel H, Doherty, Dan
Published in Journal of medical genetics (01.01.2016)
Published in Journal of medical genetics (01.01.2016)
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Journal Article
Investigation of Genetic Modifiers of Copper Toxicosis in Labrador Retrievers
Wu, Xiaoyan, den Boer, Elise R., Vos-Loohuis, Manon, Steenbeek, Frank G. van, Monroe, Glen R., Nijman, Isaäc J., Leegwater, Peter. A. J., Fieten, Hille
Published in Life (Basel, Switzerland) (31.10.2020)
Published in Life (Basel, Switzerland) (31.10.2020)
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Journal Article
Familial Ehlers-Danlos syndrome with lethal arterial events caused by a mutation in COL5A1
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
Published in American journal of medical genetics. Part A (01.06.2015)
Published in American journal of medical genetics. Part A (01.06.2015)
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Journal Article
[ 18 F]FDG and [ 18 F]FES positron emission tomography for disease monitoring and assessment of anti-hormonal treatment eligibility in granulosa cell tumors of the ovary
Roze, Joline F, van Meurs, Hannah S, Monroe, Glen R, Veldhuis, Wouter B, van Lonkhuijzen, Luc R C W, Bennink, Roel J, Groeneweg, Jolijn W, Witteveen, Petronella O, Jonges, Geertruida N, Zweemer, Ronald P, Braat, Arthur J A T
Published in Oncotarget (30.03.2021)
Published in Oncotarget (30.03.2021)
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