Search Results - Koen L.I. van Gassen

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  1. 1
    Points to consider for laboratories reporting results from diagnostic genomic sequencing

    Points to consider for laboratories reporting results from diagnostic genomic sequencing by Danya F. Vears, Karine Sénécal, Angus Clarke, Leigh Jackson, Anne‐Marie Laberge, Luca Lovrečić, Amélie Piton, Koen L.I. van Gassen, Helger G. Yntema, Bartha Maria Knoppers, Pascal Borry

    Published 2017
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  2. 2
    Whole-exome sequencing in intellectual disability; cost before and after a diagnosis

    Whole-exome sequencing in intellectual disability; cost before and after a diagnosis by Terry Vrijenhoek, Eline M. Middelburg, Glen R. Monroe, Koen L.I. van Gassen, Joost W. Geenen, Anke M. Hövels, Nine Knoers, Hans Kristian Ploos van Amstel, G. W. J. Frederix

    Published 2018
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  3. 3
    High‐throughput phenotyping of avoidance learning in mice discriminates different genotypes and identifies a novel gene

    High‐throughput phenotyping of avoidance learning in mice discriminates different genotypes and identifies a novel gene by Grégoire Maroteaux, Maarten Loos, Sophie van der Sluis, Bastijn Koopmans, Emmeke Aarts, Koen L.I. van Gassen, Aron M. Geurts, David A. Largaespada, B.M. Spruijt, Oliver Stiedl, August B. Smit, Matthijs Verhage

    Published 2012
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  4. 4
    Mutations in N-acetylglucosamine (O-GlcNAc) transferase in patients with X-linked intellectual disability

    Mutations in N-acetylglucosamine (O-GlcNAc) transferase in patients with X-linked intellectual disability by Anke P. Willems, Mehmet Gundogdu, Marlies Kempers, Jacques C. Giltay, Rolph Pfundt, Martin Elferink, Bettina Loza, Joris Fuijkschot, Andrew T. Ferenbach, Koen L.I. van Gassen, Daan M. F. van Aalten, Dirk J. Lefeber

    Published 2017
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  5. 5
    De novo substitutions of TRPM3 cause intellectual disability and epilepsy

    De novo substitutions of TRPM3 cause intellectual disability and epilepsy by David A. Dyment, Paulien A. Terhal, Cecilie F. Rustad, Kristian Tveten, Christopher Griffith, Parul Jayakar, Marwan Shinawi, Sara Ellingwood, Rosemarie Smith, Koen L.I. van Gassen, Kirsty McWalter, A. Micheil Innes, Matthew A. Lines

    Published 2019
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  6. 6
    Genotype–phenotype correlations in spastic paraplegia type 7: a study in a large Dutch cohort

    Genotype–phenotype correlations in spastic paraplegia type 7: a study in a large Dutch cohort by Koen L.I. van Gassen, Charlotte D.C.C. van der Heijden, Susanne T. de Bot, Wilfred F.A. den Dunnen, Leonard H. van den Berg, Corien C. Verschuuren‐Bemelmans, H.P.H. Kremer, Jan H. Veldink, Erik‐Jan Kamsteeg, Hans Scheffer, Bart P. van de Warrenburg

    Published 2012
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  7. 7
    Mutations in HIVEP2 are associated with developmental delay, intellectual disability, and dysmorphic features

    Mutations in HIVEP2 are associated with developmental delay, intellectual disability, and dysmorphic features by Hallie Steinfeld, Megan T. Cho, Kyle Retterer, Rick Person, G. Bradley Schaefer, Noelle R. Danylchuk, Saleem Malik, Stephanie Burns Wechsler, Patricia G. Wheeler, Koen L.I. van Gassen, Paulien A. Terhal, Virginie J. M. Verhoeven, Marjon A. van Slegtenhorst, Kristin G. Monaghan, Lindsay B. Henderson, Wendy K. Chung

    Published 2016
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  8. 8
    De Novo Mutations in CHAMP1 Cause Intellectual Disability with Severe Speech Impairment

    De Novo Mutations in CHAMP1 Cause Intellectual Disability with Severe Speech Impairment by Maja Hempel, Kirsten Cremer, Charlotte W. Ockeloen, Klaske D. Lichtenbelt, Johanna C. Herkert, Jonas Denecke, Tobias B. Haack, Alexander M. Zink, Jessica Becker, Eva Wohlleber, Jessika Johannsen, Bader Alhaddad, Rolph Pfundt, Sigrid Fuchs, Dagmar Wieczorek, Tim M. Strom, Koen L.I. van Gassen, Tjitske Kleefstra, Christian Kubisch, Hartmut Engels, Davor Lessel

    Published 2015
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  9. 9
    Imaging flow cytometry-based cellular screening elucidates pathophysiology in individuals with Variants of Uncertain Significance

    Imaging flow cytometry-based cellular screening elucidates pathophysiology in individuals with Variants of Uncertain Significance by Irena Muffels, Hans R. Waterham, Giuseppina D’Alessandro, Guido Zagnoli-Vieira, Michael Sacher, Dirk J. Lefeber, Celine Van der Vinne, Chaim M. Roifman, Koen L.I. van Gassen, Holger Rehmann, Désirée Y. van Haaften–Visser, Edward E. S. Nieuwenhuis, Stephen P. Jackson, Sabine A. Fuchs, Femke van Wijk, Peter van Hasselt

    Published 2025
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  10. 10
    Revertant Somatic Mosaicism by Mitotic Recombination in Dyskeratosis Congenita

    Revertant Somatic Mosaicism by Mitotic Recombination in Dyskeratosis Congenita by Marjolijn C.J. Jongmans, Eugène T.P. Verwiel, Yvonne F. Heijdra, Tom Vulliamy, Eveline J. Kamping, Jayne Y. Hehir‐Kwa, Ernie M.H.F. Bongers, Rolph Pfundt, Liesbeth van Emst, Frank N. van Leeuwen, Koen L.I. van Gassen, Ad Geurts van Kessel, Inderjeet Dokal, Nicoline Hoogerbrugge, Marjolijn J. L. Ligtenberg, Roland P. Kuiper

    Published 2012
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  11. 11
    Aminoacyl-tRNA synthetase deficiencies in search of common themes

    Aminoacyl-tRNA synthetase deficiencies in search of common themes by Sabine A. Fuchs, Imre F. Schene, Gautam Kok, J. Jansen, Peter G. J. Nikkels, Koen L.I. van Gassen, Suzanne W. J. Terheggen-Lagro, Saskia N. van der Crabben, Sanne E. Hoeks, Laetitia E.M. Niers, Nicole I. Wolf, Maaike C. de Vries, David A. Koolen, Roderick H.J. Houwen, Margot F. Mulder, Peter M. van Hasselt

    Published 2018
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  12. 12
    Mutations in SPATA5 Are Associated with Microcephaly, Intellectual Disability, Seizures, and Hearing Loss

    Mutations in SPATA5 Are Associated with Microcephaly, Intellectual Disability, Seizures, and Hearing Loss by Akemi Tanaka, Megan T. Cho, Francisca Millan, Jane Juusola, Kyle Retterer, Charuta Joshi, Dmitriy Niyazov, Adolfo D. Garnica, Edward S. Gratz, Matthew A. Deardorff, Alisha Wilkins, Xilma R. Ortiz‐González, Katherine D. Mathews, Karin Panzer, Eva H. Brilstra, Koen L.I. van Gassen, Catharina M.L. Volker‐Touw, Ellen van Binsbergen, Nara Sobreira, Ada Hamosh, Dianalee McKnight, Kristin G. Monaghan, Wendy K. Chung

    Published 2015
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  13. 13
    Effectiveness of whole-exome sequencing and costs of the traditional diagnostic trajectory in children with intellectual disability

    Effectiveness of whole-exome sequencing and costs of the traditional diagnostic trajectory in children with intellectual disability by Glen R. Monroe, G. W. J. Frederix, Sanne M. C. Savelberg, Tamar I. de Vries, Karen Duran, Jasper J. van der Smagt, Paulien A. Terhal, Peter M. van Hasselt, Hester Y. Kroes, Nanda M. Verhoeven‐Duif, Isaäc J. Nijman, Ellen C. Carbo, Koen L.I. van Gassen, Nine Knoers, Anke M. Hövels, Mieke M. van Haelst, Gepke Visser, Gijs van Haaften

    Published 2016
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  14. 14
    Osteoporosis and skeletal dysplasia caused by pathogenic variants in SGMS2

    Osteoporosis and skeletal dysplasia caused by pathogenic variants in SGMS2 by Minna Pekkinen, Paulien A. Terhal, Lorenzo D. Botto, Petra Henning, Riikka E. Mäkitie, Paul Roschger, Amrita Jain, Matthijs Kol, Matti A. Kjellberg, Eleftherios P. Paschalis, Koen L.I. van Gassen, Mary Murray, Pinar Bayrak‐Toydemir, Maria K. Magnusson, Judith Jans, Mehran Kausar, John C. Carey, Pentti Somerharju, Ulf H. Lerner, Vesa M. Olkkonen, Klaus Klaushofer, Joost C. M. Holthuis, Outi Mäkitie

    Published 2019
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  15. 15
    De Novo Mutations in YWHAG Cause Early-Onset Epilepsy

    De Novo Mutations in YWHAG Cause Early-Onset Epilepsy by Ilaria Guella, Marna B. McKenzie, Daniel M. Evans, Sarah E. Buerki, Eric Toyota, Margot I. Van Allen, Mohnish Suri, Frances Elmslie, Marleen Simon, Koen L.I. van Gassen, Delphine Héron, Boris Keren, Caroline Nava, Mary Connolly, Michelle Demos, Matthew J. Farrer, Shelin Adam, Cyrus Boelman, Corneliu Bolbocean, Tara Candido, Patrice Eydoux, Gabriella Horváth, Linda Huh, Tanya N. Nelson, Graham Sinclair, Clara van Karnebeek, Suzanne Vercauteren

    Published 2017
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  16. 16
    SLC10A7 mutations cause a skeletal dysplasia with amelogenesis imperfecta mediated by GAG biosynthesis defects

    SLC10A7 mutations cause a skeletal dysplasia with amelogenesis imperfecta mediated by GAG biosynthesis defects by Johanne Dubail, Céline Huber, Sandrine Chantepie, Stephan Sonntag, Beyhan Tüysüz, Ercan Mıhçı, Christopher T. Gordon, Elisabeth Steichen‐Gersdorf, Jeanne Amiel, Banu Nur, Irene Stolte‐Dijkstra, Albertien M. van Eerde, Koen L.I. van Gassen, Corstiaan C. Breugem, Alexander P.A. Stegmann, Caroline Lekszas, Reza Maroofian, Ehsan Ghayoor Karimiani, Arnaud Bruneel, Nathalie Seta, Arnold Münnich, Dulce Papy‐Garcia, Muriel De La Dure‐Molla, Valérie Cormier‐Daire

    Published 2018
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  17. 17
    De Novo Mutations in CHD4 , an ATP-Dependent Chromatin Remodeler Gene, Cause an Intellectual Disability Syndrome with Distinctive Dysmorphisms

    De Novo Mutations in CHD4 , an ATP-Dependent Chromatin Remodeler Gene, Cause an Intellectual Disability Syndrome with Distinctive Dysmorphisms by Karin Weiss, Paulien A. Terhal, Lior Cohen, Michael Bruccoleri, Melita Irving, Ariel F. Martinez, Jill A. Rosenfeld, Keren Machol, Yaping Yang, Pengfei Liu, Magdalena Walkiewicz, Joke Beuten, Natalia Gomez‐Ospina, Katrina Haude, Chin-To Fong, Gregory M. Enns, Jonathan A. Bernstein, Judith Fan, Garrett Gotway, Mohammad Ghorbani, Koen L.I. van Gassen, Glen R. Monroe, Gijs van Haaften, Lina Basel‐Vanagaite, Xiang‐Jiao Yang, Philippe M. Campeau, Maximilian Muenke

    Published 2016
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  18. 18
    B56δ-related protein phosphatase 2A dysfunction identified in patients with intellectual disability

    B56δ-related protein phosphatase 2A dysfunction identified in patients with intellectual disability by Gunnar Houge, Dorien Haesen, Lisenka E.L.M. Vissers, Sarju Mehta, Michael Parker, Michael Wright, Julie Vogt, Shane McKee, John Tolmie, Nuno Cordeiro, Tjitske Kleefstra, Marjolein H. Willemsen, Margot R.F. Reijnders, Siren Berland, E. HAYMAN, Eli Lahat, Eva H. Brilstra, Koen L.I. van Gassen, Evelien Zonneveld‐Huijssoon, Charlotte I. de Bie, Alexander Hoischen, Evan E. Eichler, Rita Holdhus, Vidar M. Steen, Stein Ove Do̷skeland, Matthew E. Hurles, David Fitzpatrick, Veerle Janssens

    Published 2015
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  19. 19
    De Novo Mutations of RERE Cause a Genetic Syndrome with Features that Overlap Those Associated with Proximal 1p36 Deletions

    De Novo Mutations of RERE Cause a Genetic Syndrome with Features that Overlap Those Associated with Proximal 1p36 Deletions by Brieana Fregeau, Bum‐Joon Kim, Andrés Hernández, Valerie K. Jordan, Megan T. Cho, Rhonda E. Schnur, Kristin G. Monaghan, Jane Juusola, Jill A. Rosenfeld, Elizabeth Bhoj, Elaine H. Zackai, Stephanie Sacharow, Kristin Barañano, Daniëlle G.M. Bosch, Bert B.A. de Vries, Kristin Lindstrom, Audrey Schroeder, Philip James, Peggy Kulch, Seema R. Lalani, Mieke M. van Haelst, Koen L.I. van Gassen, Ellen van Binsbergen, A. James Barkovich, Daryl A. Scott, Elliott H. Sherr

    Published 2016
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  20. 20
    MCM3AP in recessive Charcot-Marie-Tooth neuropathy and mild intellectual disability

    MCM3AP in recessive Charcot-Marie-Tooth neuropathy and mild intellectual disability by Emil Ylikallio, Rosa Woldegebriel, Manuela Tumiati, Pirjo Isohanni, Monique M. Ryan, Zornitza Stark, Maie Walsh, Sarah L. Sawyer, Katrina M. Bell, Alicia Oshlack, Paul J. Lockhart, Mariia Shcherbii, Alejandro Estrada‐Cuzcano, Derek Atkinson, Taila Hartley, Martine Tétreault, Inge Cuppen, W. Ludo van der Pol, Ayşe Candayan, Esra Battaloğlu, Yeşim Parman, Koen L.I. van Gassen, Marie-José H. van den Boogaard, Kym M. Boycott, Liisa Kauppi, Albena Jordanova, Tuula Lönnqvist, Henna Tyynismaa

    Published 2017
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