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Genetics in Medicine, ISSN 1098-3600, 2019, Volume 21, Issue 8, pp. 1719 - 1725
Purpose: The interpretation of genetic variants after genome-wide analysis is complex in heterogeneous disorders such as intellectual disability (ID). We... 
facial image processing | phenotyping | facial phenotyping | DE-NOVO | DIVERSE | GENETICS & HEREDITY
Journal Article
Nederlands Tijdschrift voor Geneeskunde, ISSN 0028-2162, 10/2008, Volume 152, Issue 43, pp. 2313 - 2316
Journal Article
Journal Article
Genetics in Medicine, ISSN 1098-3600, 2019, Volume 21, Issue 9, pp. 2059 - 2069
Purpose: To investigate the effect of different DEAF1 variants on the phenotype of patients with autosomal dominant and recessive inheritance patterns and on... 
phenotype | DEAF1 | neurodevelopmental disorder | intellectual disability | genotype | SAND DOMAIN | PROTEIN | AUTISM | IDENTIFICATION | DNA | GENETICS & HEREDITY | WHITE-MATTER DISEASE | EXPRESSION | Life Sciences
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
American Journal of Human Genetics, ISSN 0002-9297, 2018, Volume 102, pp. 1195 - 1203
Next-generation sequencing is a powerful tool for the discovery of genes related to neurodevelopmental disorders (NDDs). Here, we report the identification of... 
Journal Article
American Journal of Medical Genetics. Part A, ISSN 1552-4825, 2019, Volume 179, Issue 9, pp. 1872 - 1877
Journal Article
Human Mutation, ISSN 1059-7794, 2017, Volume 38, Issue 10, pp. 1365 - 1371
Journal Article
by Cheng, Hanyin and Dharmadhikari, Avinash V and Varland, Sylvia and Ma, Ning and Domingo, Deepti and Kleyner, Robert and Rope, Alan F and Yoon, Margaret and Stray-Pedersen, Asbjørg and Posey, Jennifer E and Crews, Sarah R and Eldomery, Mohammad K and Akdemir, Zeynep Coban and Lewis, Andrea M and Sutton, Vernon R and Rosenfeld, Jill A and Conboy, Erin and Agre, Katherine and Xia, Fan and Walkiewicz, Magdalena and Longoni, Mauro and High, Frances A and van Slegtenhorst, Marjon A and Mancini, Grazia M.S and Finnila, Candice R and van Haeringen, Arie and den Hollander, Nicolette and Ruivenkamp, Claudia and Naidu, Sakkubai and Mahida, Sonal and Palmer, Elizabeth E and Murray, Lucinda and Lim, Derek and Jayakar, Parul and Parker, Michael J and Giusto, Stefania and Stracuzzi, Emanuela and Romano, Corrado and Beighley, Jennifer S and Bernier, Raphael A and Küry, Sébastien and Nizon, Mathilde and Corbett, Mark A and Shaw, Marie and Gardner, Alison and Barnett, Christopher and Armstrong, Ruth and Kassahn, Karin S and Van Dijck, Anke and Vandeweyer, Geert and Kleefstra, Tjitske and Schieving, Jolanda and Jongmans, Marjolijn J and de Vries, Bert B.A and Pfundt, Rolph and Kerr, Bronwyn and Rojas, Samantha K and Boycott, Kym M and Person, Richard and Willaert, Rebecca and Eichler, Evan E and Kooy, R. Frank and Yang, Yaping and Wu, Joseph C and Lupski, James R and Arnesen, Thomas and Cooper, Gregory M and Chung, Wendy K and Gecz, Jozef and Stessman, Holly A.F and Meng, Linyan and Lyon, Gholson J
The American Journal of Human Genetics, ISSN 0002-9297, 05/2018, Volume 102, Issue 5, pp. 985 - 994
Journal Article