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Nature neuroscience, ISSN 1097-6256, 09/2016, Volume 19, Issue 9, pp. 1194 - 1196
To identify candidate genes for intellectual disability, we performed a meta-analysis on 2,637 de novo mutations, identified from the exomes of 2,104... 
Journal Article
Nature Genetics, ISSN 1061-4036, 2014, Volume 46, Issue 10, pp. 1063 - 1071
Journal Article
American Journal of Human Genetics, ISSN 0002-9297, 02/2016, Volume 98, Issue 2, pp. 373 - 381
Mutations in more than a hundred genes have been reported to cause X-linked recessive intellectual disability (ID) mainly in males. In contrast, the number of... 
Journal Article
Journal Article
PLoS Genetics, ISSN 1553-7390, 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... 
METHYLATION | MEMORY | MOLECULAR CONVERGENCE | GENETICS & HEREDITY | GENE-EXPRESSION | COMPASS FAMILY | DEVELOPMENTAL DELAY | COURTSHIP | DROSOPHILA | NUCLEAR RECEPTOR | 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
by Snijders Blok, Lot and Madsen, Erik and Juusola, Jane and Gilissen, Christian and Baralle, Diana and Reijnders, Margot R.F and Venselaar, Hanka and Helsmoortel, Céline and Cho, Megan T and Hoischen, Alexander and Vissers, Lisenka E.L.M and Koemans, Tom S and Wissink-Lindhout, Willemijn and Eichler, Evan E and Romano, Corrado and Van Esch, Hilde and Stumpel, Connie and Vreeburg, Maaike and Smeets, Eric and Oberndorff, Karin and van Bon, Bregje W.M and Shaw, Marie and Gecz, Jozef and Haan, Eric and Bienek, Melanie and Jensen, Corinna and Loeys, Bart L and Van Dijck, Anke and Innes, A. Micheil and Racher, Hilary and Vermeer, Sascha and Di Donato, Nataliya and Rump, Andreas and Tatton-Brown, Katrina and Parker, Michael J and Henderson, Alex and Lynch, Sally A and Fryer, Alan and Ross, Alison and Vasudevan, Pradeep and Kini, Usha and Newbury-Ecob, Ruth and Chandler, Kate and Male, Alison and Dijkstra, Sybe and Schieving, Jolanda and Giltay, Jacques and van Gassen, Koen L.I and Schuurs-Hoeijmakers, Janneke and Tan, Perciliz L and Pediaditakis, Igor and Haas, Stefan A and Retterer, Kyle and Reed, Patrick and Monaghan, Kristin G and Haverfield, Eden and Natowicz, Marvin and Myers, Angela and Kruer, Michael C and Stein, Quinn and Strauss, Kevin A and Brigatti, Karlla W and Keating, Katherine and Burton, Barbara K and Kim, Katherine H and Charrow, Joel and Norman, Jennifer and Foster-Barber, Audrey and Kline, Antonie D and Kimball, Amy and Zackai, Elaine and Harr, Margaret and Fox, Joyce and McLaughlin, Julie and Lindstrom, Kristin and Haude, Katrina M and van Roozendaal, Kees and Brunner, Han and Chung, Wendy K and Kooy, R. Frank and Pfundt, Rolph and Kalscheuer, Vera and Mehta, Sarju G and Katsanis, Nicholas and Kleefstra, Tjitske and DDD Study
The American Journal of Human Genetics, ISSN 0002-9297, 08/2015, Volume 97, Issue 2, pp. 343 - 352
Journal Article
Human Molecular Genetics, ISSN 0964-6906, 2016, Volume 25, Issue 5, pp. 892 - 902
Journal Article
The American Journal of Human Genetics, ISSN 0002-9297, 09/2017, Volume 101, Issue 3, pp. 466 - 477
Journal Article
The American Journal of Human Genetics, ISSN 0002-9297, 02/2016, Volume 98, Issue 2, pp. 373 - 381
Journal Article
Journal of Medical Genetics, ISSN 0022-2593, 02/2018, Volume 55, Issue 2, pp. 104 - 113
Journal Article
The American Journal of Human Genetics, ISSN 0002-9297, 11/2017, Volume 101, Issue 5, pp. 824 - 832
The Rab GTPase family comprises ∼70 GTP-binding proteins, functioning in vesicle formation, transport and fusion. They are activated by a conformational change... 
PROTEIN | GTPASES | SPECIFICITY | RECYCLING ENDOSOME | STRUCTURAL BASIS | MEMBRANE | IMAGE-ANALYSIS | GENETICS & HEREDITY | T-CELL LYMPHOMA | CILIOGENESIS | RHOA | Corpus Callosum - metabolism | White Matter - metabolism | Humans | Epilepsy - diagnostic imaging | Child, Preschool | Male | rab GTP-Binding Proteins - genetics | Guanosine Triphosphate - metabolism | Intellectual Disability - genetics | Optic Nerve Diseases - congenital | Optic Nerve Diseases - pathology | Epilepsy - genetics | Female | Guanosine Triphosphate - chemistry | Guanosine Diphosphate - chemistry | Guanosine Diphosphate - metabolism | Binding Sites | Child | rab GTP-Binding Proteins - deficiency | Amino Acid Sequence | Cerebellar Vermis - metabolism | Gene Expression | Muscle Hypotonia - genetics | Muscle Hypotonia - diagnostic imaging | Intellectual Disability - diagnostic imaging | Intellectual Disability - pathology | Models, Molecular | Optic Nerve Diseases - genetics | White Matter - pathology | Cerebellar Vermis - diagnostic imaging | Corpus Callosum - diagnostic imaging | Magnetic Resonance Imaging | Muscle Hypotonia - pathology | Phenotype | White Matter - diagnostic imaging | Optic Nerve Diseases - diagnostic imaging | Corpus Callosum - pathology | Adolescent | Protein Binding | rab GTP-Binding Proteins - chemistry | Mutation | Cerebellar Vermis - pathology | Epilepsy - pathology | Report
Journal Article