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ArticlesPeer ReviewedFull Text
Expression Profiling after Prolonged Experimental Febrile Seizures in Mice Suggests Structural Remodeling in the Hippocampus
Author / Creator:Jongbloets, Bart C. ; van Gassen, Koen L. I. ; Kan, Anne A. ; Olde Engberink, Anneke H. O. ; de Wit, Marina ; Wolterink-Donselaar, Inge G. ; Groot Koerkamp, Marian J. A. ; van Nieuwenhuizen, Onno ; Holstege, Frank C. P. ; de Graan, Pierre N. E.
Publisher:United States: Public Library of Science
Journal title:PloS one, 2015-12, Vol.10 (12), p.e0145247-e0145247
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ArticlesPeer ReviewedFull Text
Whole-exome sequencing in intellectual disability; cost before and after a diagnosis
Author / Creator:Vrijenhoek, Terry ; Middelburg, Eline M ; Monroe, Glen R ; Koen L I van Gassen ; Geenen, Joost W ; Hövels, Anke M ; Knoers, Nine V ; Hans Kristian Ploos van Amstel ; Frederix, Gerardus W J
Publisher:Leiden: Nature Publishing Group
Journal title:European journal of human genetics : EJHG, 2018-11, Vol.26 (11), p.1566-1571
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ArticlesPeer ReviewedFull Text
Germline mutations affecting the histone H4 core cause a developmental syndrome by altering DNA damage response and cell cycle control
Author / Creator: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
Publisher:New York: Nature Publishing Group US
Journal title:Nature genetics, 2017-11, Vol.49 (11), p.1642-1646
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Bi-allelic mutations in TRAPPC2L result in a neurodevelopmental disorder and have an impact on RAB11 in fibroblasts
Author / Creator:Milev, Miroslav P ; Graziano, Claudio ; Karall, Daniela ; Kuper, Willemijn F E ; Al-Deri, Noraldin ; Cordelli, Duccio Maria ; Haack, Tobias B ; Danhauser, Katharina ; Iuso, Arcangela ; Palombo, Flavia ; Pippucci, Tommaso ; Prokisch, Holger ; Saint-Dic, Djenann ; Seri, Marco ; Stanga, Daniela ; Cenacchi, Giovanna ; van Gassen, Koen L I ; Zschocke, Johannes ; Fauth, Christine ; Mayr, Johannes A ; Sacher, Michael ; van Hasselt, Peter M
Publisher:England: BMJ Publishing Group LTD
Journal title:Journal of medical genetics, 2018-11, Vol.55 (11), p.753-764
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ArticlesPeer ReviewedFull Text
De novo variants in CUL3 are associated with global developmental delays with or without infantile spasms
Author / Creator:Nakashima Mitsuko ; Kato Mitsuhiro ; Matsukura Masaru ; Kira Ryutaro ; Lock-Hock, Ngu ; Lichtenbelt Klaske D ; van Gassen Koen L I ; Mitsuhashi Satomi ; Saitsu Hirotomo ; Matsumoto Naomichi
Publisher:London: Nature Publishing Group
Journal title:Journal of human genetics, 2020-09, Vol.65 (9), p.727-734
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ArticlesPeer ReviewedFull Text
Biallelic variants in POLR3GL cause endosteal hyperostosis and oligodontia
Author / Creator:Terhal, Paulien A ; Vlaar, Judith M ; Middelkamp Sjors ; Nievelstein Rutger A J ; Nikkels Peter G J ; Ross, Jamila ; Créton Marijn ; Bos, Jeroen W ; Voskuil-Kerkhof Elsbeth S M ; Cuppen, Edwin ; Nine, Knoers ; van Gassen Koen L I
Publisher:Leiden: Nature Publishing Group
Journal title:European journal of human genetics : EJHG, 2020-01, Vol.28 (1), p.31-39
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ArticlesPeer ReviewedFull Text
Correction: Aminoacyl-tRNA synthetase deficiencies in search of common themes
Author / Creator:Fuchs, Sabine A. ; Schene, Imre F. ; Kok, Gautam ; Jansen, Jurriaan M. ; Nikkels, Peter G.J. ; van Gassen, Koen L.I. ; Terheggen-Lagro, Suzanne W.J. ; van der Crabben, Saskia N. ; Hoeks, Sanne E. ; Niers, Laetitia E.M. ; Wolf, Nicole I. ; de Vries, Maaike C. ; Koolen, David A. ; Houwen, Roderick H.J. ; Mulder, Margot F. ; van Hasselt, Peter M.
Publisher:New York: Elsevier Inc
Journal title:Genetics in medicine, 2021-10, Vol.23 (10), p.2024-2024
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ArticlesPeer ReviewedFull Text
Cross-Omics: Integrating Genomics with Metabolomics in Clinical Diagnostics
Author / Creator:Kerkhofs, Marten H. P. M. ; Haijes, Hanneke A. ; Willemsen, A. Marcel ; van Gassen, Koen L. I. ; van der Ham, Maria ; Gerrits, Johan ; de Sain-van der Velden, Monique G. M. ; Prinsen, Hubertus C. M. T. ; van Deutekom, Hanneke W. M. ; van Hasselt, Peter M. ; Verhoeven-Duif, Nanda M. ; Jans, Judith J. M.
Publisher:Switzerland: MDPI AG
Journal title:Metabolites, 2020-05, Vol.10 (5), p.206
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ArticlesPeer ReviewedFull Text
Parenteral hydroxocobalamin dose intensification in five patients with different types of early onset intracellular cobalamin defects: Clinical and biochemical responses
Author / Creator:Scalais, Emmanuel ; Osterheld, Elise ; Geron, Christine ; Pierron, Charlotte ; Chafai, Ronit ; Schlesser, Vincent ; Borde, Patricia ; Regal, Luc ; Laeremans, Hilde ; Gassen, Koen L. I. ; Heuvel, L. Bert ; De Meirleir, Linda
Publisher:Hoboken, USA: John Wiley & Sons, Inc
Journal title:JIMD reports, 2019-09, Vol.49 (1), p.70-79
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ArticlesPeer ReviewedFull Text
The c.1A > C start codon mutation in CLN3 is associated with a protracted disease course
Author / Creator:Kuper, Willemijn F. E. ; Alfen, Claudia ; Eck, Linda ; Man, Stella A. ; Willemsen, Marjolein H. ; Gassen, Koen L. I. ; Losekoot, Monique ; Hasselt, Peter M.
Publisher:Hoboken, USA: John Wiley & Sons, Inc
Journal title:JIMD reports, 2020-03, Vol.52 (1), p.23-27
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ArticlesPeer ReviewedFull Text
Aminoacyl-tRNA synthetase deficiencies in search of common themes
Author / Creator:Fuchs, Sabine A. ; Schene, Imre F. ; Kok, Gautam ; Jansen, Jurriaan M. ; Nikkels, Peter G. J. ; van Gassen, Koen L. I. ; Terheggen-Lagro, Suzanne W. J. ; van der Crabben, Saskia N. ; Hoeks, Sanne E. ; Niers, Laetitia E. M. ; Wolf, Nicole I. ; de Vries, Maaike C. ; Koolen, David A. ; Houwen, Roderick H. J. ; Mulder, Margot F. ; van Hasselt, Peter M.
Publisher:New York: Nature Publishing Group US
Journal title:Genetics in medicine, 2019-02, Vol.21 (2), p.319-330
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ArticlesPeer ReviewedFull Text
Variants in members of the cadherin–catenin complex, CDH1 and CTNND1, cause blepharocheilodontic syndrome
Author / Creator:Kievit, Anneke ; Tessadori, Federico ; Douben, Hannie ; Jordens, Ingrid ; Maurice, Madelon ; Hoogeboom, Jeannette ; Hennekam, Raoul ; Nampoothiri, Sheela ; Kayserili, Hülya ; Castori, Marco ; Whiteford, Margo ; Motter, Connie ; Melver, Catherine ; Cunningham, Michael ; Hing, Anne ; Kokitsu-Nakata, Nancy M ; Vendramini-Pittoli, Siulan ; Richieri-Costa, Antonio ; Baas, Annette F ; Breugem, Corstiaan C ; Duran, Karen ; Massink, Maarten ; Derksen, Patrick W B ; Wilfred F J van IJcken ; Leontine van Unen ; Santos-Simarro, Fernando ; Lapunzina, Pablo ; Vera L Gil-da Silva Lopes ; Lustosa-Mendes, Elaine ; Krall, Max ; Slavotinek, Anne ; Martinez-Glez, Victor ; Bakkers, Jeroen ; Koen L I van Gassen ; de Klein, Annelies ; Marie-José H van den Boogaard ; Gijs van Haaften
Publisher:Leiden: Nature Publishing Group
Journal title:European journal of human genetics : EJHG, 2018-02, Vol.26 (2), p.210-219
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ArticlesPeer ReviewedFull Text
Mutations in HIVEP2 are associated with developmental delay, intellectual disability, and dysmorphic features
Author / Creator:Steinfeld, Hallie ; Cho, Megan T. ; Retterer, Kyle ; Person, Rick ; Schaefer, G. Bradley ; Danylchuk, Noelle ; Malik, Saleem ; Wechsler, Stephanie Burns ; Wheeler, Patricia G. ; van Gassen, Koen L.I. ; Terhal, P.A. ; Verhoeven, Virginie J.M. ; van Slegtenhorst, Marjon A. ; Monaghan, Kristin G. ; Henderson, Lindsay B. ; Chung, Wendy K.
Publisher:Berlin/Heidelberg: Springer Berlin Heidelberg
Journal title:Neurogenetics, 2016-07, Vol.17 (3), p.159-164
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ArticlesPeer ReviewedFull Text
B56δ-related protein phosphatase 2A dysfunction identified in patients with intellectual disability
Author / Creator:Houge, Gunnar ; Haesen, Dorien ; Vissers, Lisenka E.L.M. ; Mehta, Sarju ; Parker, Michael J. ; Wright, Michael ; Vogt, Julie ; McKee, Shane ; Tolmie, John L. ; Cordeiro, Nuno ; Kleefstra, Tjitske ; Willemsen, Marjolein H. ; Reijnders, Margot R.F. ; Berland, Siren ; Hayman, Eli ; Lahat, Eli ; Brilstra, Eva H. ; van Gassen, Koen L.I. ; Zonneveld-Huijssoon, Evelien ; de Bie, Charlotte I. ; Hoischen, Alexander ; Eichler, Evan E. ; Holdhus, Rita ; Steen, Vidar M. ; Døskeland, Stein Ove ; Hurles, Matthew E. ; FitzPatrick, David R. ; Janssens, Veerle
Publisher:United States: American Society for Clinical Investigation
Journal title:The Journal of clinical investigation, 2015-08, Vol.125 (8), p.3051-3062
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ArticlesPeer ReviewedFull Text
Aminoacyl-tRNA synthetase deficiencies in search of commonthemes
Author / Creator:Fuchs, Sabine A ; Schene Imre F ; Kok Gautam ; Jansen, Jurriaan M ; Nikkels Peter G J ; van Gassen Koen L I ; Terheggen-Lagro Suzanne W J ; van der Crabben Saskia N ; Hoeks, Sanne E ; Niers Laetitia E M ; Wolf, Nicole I ; de Vries Maaike C ; Koolen David A ; Houwen Roderick H J ; Mulder, Margot F ; van Hasselt Peter M
Publisher:Bethesda: Elsevier Limited
Journal title:Genetics in medicine, 2019-02, Vol.21 (2), p.319-330
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ArticlesPeer ReviewedFull Text
B56[delta]-related protein phosphatase 2A dysfunction identified in patients with intellectual disability
Author / Creator:Houge, Gunnar ; Haesen, Dorien ; Vissers, Lisenka E L M ; Mehta, Sarju ; Parker, Michael J ; Wright, Michael ; Vogt, Julie ; McKee, Shane ; Tolmie, John L ; Cordeiro, Nuno ; Kleefstra, Tjitske ; Willemsen, Marjolein H ; Reijnders, Margot R F ; Berland, Siren ; Hayman, Eli ; Lahat, Eli ; Brilstra, Eva H ; van Gassen, Koen L I ; Zonneveld-Huijssoon, Evelien ; de Bie, Charlotte I ; Hoischen, Alexander ; Eichler, Evan E ; Holdhus, Rita ; Steen, Vidar M ; Døskeland, Stein Ove ; Hurles, Matthew E ; FitzPatrick, David R ; Janssens, Veerle
Publisher:Ann Arbor: American Society for Clinical Investigation
Journal title:The Journal of clinical investigation, 2015-08, Vol.125 (8), p.3051
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Expression Profiling after Prolonged Experimental Febrile Seizures in Mice Suggests Structural Remodeling in the Hippocampus

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Whole-exome sequencing in intellectual disability; cost before and after a diagnosis

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

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Bi-allelic mutations in TRAPPC2L result in a neurodevelopmental disorder and have an impact on RAB11 in fibroblasts

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De novo variants in CUL3 are associated with global developmental delays with or without infantile spasms

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Biallelic variants in POLR3GL cause endosteal hyperostosis and oligodontia

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Correction: Aminoacyl-tRNA synthetase deficiencies in search of common themes

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Cross-Omics: Integrating Genomics with Metabolomics in Clinical Diagnostics

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Parenteral hydroxocobalamin dose intensification in five patients with different types of early onset intracellular cobalamin defects: Clinical and biochemical responses

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The c.1A > C start codon mutation in CLN3 is associated with a protracted disease course

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Aminoacyl-tRNA synthetase deficiencies in search of common themes

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Variants in members of the cadherin–catenin complex, CDH1 and CTNND1, cause blepharocheilodontic syndrome

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Mutations in HIVEP2 are associated with developmental delay, intellectual disability, and dysmorphic features

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B56δ-related protein phosphatase 2A dysfunction identified in patients with intellectual disability

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Aminoacyl-tRNA synthetase deficiencies in search of commonthemes

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B56[delta]-related protein phosphatase 2A dysfunction identified in patients with intellectual disability

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