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Plos Genetics, ISSN 1553-7404, 10/2017, Volume 13, Issue 10, p. e1006864
Kleefstra syndrome, caused by haploinsufficiency of euchromatin histone methyltransferase 1 (EHMT1), is characterized by intellectual disability (ID), autism... 
SUBTELOMERIC DELETION SYNDROME | MEMORY FORMATION | KLEEFSTRA SYNDROME | CONSTITUTIVE ANDROSTANE RECEPTOR | MOLECULAR CONVERGENCE | GENE-EXPRESSION | COMPASS FAMILY | DEVELOPMENTAL DELAY | ADULT DROSOPHILA-MELANOGASTER | NUCLEAR RECEPTOR | METHYLATION | MEMORY | GENETICS & HEREDITY | COURTSHIP | DROSOPHILA | DELETION | Cytoskeletal Proteins - genetics | Humans | Male | Craniofacial Abnormalities - physiopathology | Drosophila melanogaster - genetics | Intellectual Disability - genetics | Chromosomes, Human, Pair 9 - genetics | Heart Defects, Congenital - genetics | Neuronal Plasticity - genetics | Adult | Female | Child | Craniofacial Abnormalities - genetics | Chromosome Deletion | Autism Spectrum Disorder - genetics | Promoter Regions, Genetic | Histone-Lysine N-Methyltransferase - genetics | Gene Expression Regulation | Binding Sites - genetics | DNA-Binding Proteins - genetics | Nerve Tissue Proteins - genetics | Haploinsufficiency | Intellectual Disability - physiopathology | Animals | Histones - genetics | Adolescent | Heart Defects, Congenital - physiopathology | Drosophila Proteins - genetics | Mutation | Autism Spectrum Disorder - physiopathology | Physiological aspects | Histones | Methyltransferases | Mental retardation | Pervasive developmental disorders | Neurosciences | Transcription | Laboratories | Funding | Intellectual disabilities | Memory | Genes | Genomics | Disorders | Nervous system | Convergence | Euchromatin | Histone methyltransferase | Genetics | Life sciences | Bioinformatics | Protein families | Supervision | Medical research | Head | Developmental biology | Drosophila | Autism | Brain research | Plasticity (synaptic) | Cognition & reasoning | Insects | Short term memory | Binding sites
Journal Article
Human Mutation, ISSN 1059-7794, 2015, Volume 36, Issue 1, pp. 69 - 78
Journal Article
Journal of Medical Genetics, ISSN 0022-2593, 02/2018, Volume 55, Issue 2, pp. 104 - 113
Journal Article
by Blok, Lot Snijders and Rousseau, Justine and Twist, Joanna and Ehresmann, Sophie and Takaku, Motoki and Venselaar, Hanka and Rodan, Lance H and Nowak, Catherine B and Douglas, Jessica and Swoboda, Kathryn J and Steeves, Marcie A and Sahai, Inderneel and Stumpel, Connie T R M and Stegmann, Alexander P A and Wheeler, Patricia and Willing, Marcia and Fiala, Elise and Kochhar, Aaina and Gibson, William T and Cohen, Ana S A and Agbahovbe, Ruky and Innes, A Micheil and Au, P Y Billie and Rankin, Julia and Anderson, Ilse J and Skinner, Steven A and Louie, Raymond J and Warren, Hannah E and Afenjar, Alexandra and Keren, Boris and Nava, Caroline and Buratti, Julien and Isapof, Arnaud and Rodriguez, Diana and Lewandowski, Raymond and Propst, Jennifer and van Essen, Ton and Choi, Murim and Lee, Sangmoon and Chae, Jong H and Price, Susan and Schnur, Rhonda E and Douglas, Ganka and Wentzensen, Ingrid M and Zweier, Christiane and Reis, André and Bialer, Martin G and Moore, Christine and Koopmans, Marije and Brilstra, Eva H and Monroe, Glen R and van Gassen, Koen L I and van Binsbergen, Ellen and Newbury-Ecob, Ruth and Bownass, Lucy and Bader, Ingrid and Mayr, Johannes A and Wortmann, Saskia B and Jakielski, Kathy J and Strand, Edythe A and Kloth, Katja and Bierhals, Tatjana and Roberts, John D and Petrovich, Robert M and Machida, Shinichi and Kurumizaka, Hitoshi and Lelieveld, Stefan and Pfundt, Rolph and Jansen, Sandra and Deriziotis, Pelagia and Faivre, Laurence and Thevenon, Julien and Assoum, Mirna and Shriberg, Lawrence and Kleefstra, Tjitske and Brunner, Han G and Wade, Paul A and Fisher, Simon E and Campeau, Philippe M and DDD study and The DDD study
Nature communications, ISSN 2041-1723, 02/2019, Volume 10, Issue 1, pp. 883 - 4
The original version of this Article contained an error in the spelling of the author Laurence Faivre, which was incorrectly given as Laurence Faive. This has... 
DNA helicase | Neurodevelopmental disorders | Mutation
Journal Article
by Snijders Blok, Lot and Rousseau, Justine and Twist, Joanna and Ehresmann, Sophie and Takaku, Motoki and Venselaar, Hanka and Rodan, Lance H and Nowak, Catherine B and Douglas, Jessica and Swoboda, Kathryn J and Steeves, Marcie A and Sahai, Inderneel and Stumpel, Connie T R M and Stegmann, Alexander P A and Wheeler, Patricia and Willing, Marcia and Fiala, Elise and Kochhar, Aaina and Gibson, William T and Cohen, Ana S A and Agbahovbe, Ruky and Innes, A Micheil and Au, P Y Billie and Rankin, Julia and Anderson, Ilse J and Skinner, Steven A and Louie, Raymond J and Warren, Hannah E and Afenjar, Alexandra and Keren, Boris and Nava, Caroline and Buratti, Julien and Isapof, Arnaud and Rodriguez, Diana and Lewandowski, Raymond and Propst, Jennifer and van Essen, Ton and Choi, Murim and Lee, Sangmoon and Chae, Jong H and Price, Susan and Schnur, Rhonda E and Douglas, Ganka and Wentzensen, Ingrid M and Zweier, Christiane and Reis, André and Bialer, Martin G and Moore, Christine and Koopmans, Marije and Brilstra, Eva H and Monroe, Glen R and van Gassen, Koen L I and van Binsbergen, Ellen and Newbury-Ecob, Ruth and Bownass, Lucy and Bader, Ingrid and Mayr, Johannes A and Wortmann, Saskia B and Jakielski, Kathy J and Strand, Edythe A and Kloth, Katja and Bierhals, Tatjana and Roberts, John D and Petrovich, Robert M and Machida, Shinichi and Kurumizaka, Hitoshi and Lelieveld, Stefan and Pfundt, Rolph and Jansen, Sandra and Deriziotis, Pelagia and Faivre, Laurence and Thevenon, Julien and Assoum, Mirna and Shriberg, Lawrence and Kleefstra, Tjitske and Brunner, Han G and Wade, Paul A and Fisher, Simon E and Campeau, Philippe M and DDD study and The DDD study
Nature communications, ISSN 2041-1723, 05/2019, Volume 10, Issue 1, pp. 2079 - 4
The HTML and PDF versions of this Article were updated after publication to remove images of one individual from Figure 1. 
DNA helicase | Neurodevelopmental disorders | Mutation
Journal Article
The American Journal of Human Genetics, ISSN 0002-9297, 09/2016, Volume 99, Issue 3, pp. 711 - 719
Journal Article
PLoS One, ISSN 1932-6203, 2015, Volume 10, Issue 4, p. e0122648
Journal Article