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Journal of the International Neuropsychological Society, ISSN 1355-6177, 2016, Volume 22, p. 28
Objective: Intellectual disability (ID) with or without autism spectrum disorders (ASD), is one of the main reasons for referral to a clinical geneticist. ID... 
Journal Article
Journal Article
The American Journal of Human Genetics, ISSN 0002-9297, 09/2017, Volume 101, Issue 3, pp. 478 - 484
Journal Article
Journal Article
Journal Article
Expert Review of Molecular Diagnostics, ISSN 1473-7159, 11/2015, Volume 15, Issue 8, pp. 1023 - 1032
Many laboratories now use genomic microarrays as their first-tier diagnostic test for copy number variation (CNV) detection. In addition, whole exome... 
clinical sequencing | structural variation | copy number variation | next-generation sequencing | DE-NOVO | ARRAY | MENTAL-RETARDATION | VARIANTS | VARIATION MAP | PATHOLOGY | REGULATORY ELEMENTS | DELETION | DISEASE | DUPLICATION | Exome | Genome, Human | Humans | DNA Copy Number Variations
Journal Article
Genetics in Medicine, ISSN 1098-3600, 2017, Volume 19, Issue 6, pp. 667 - 675
PURPOSE: Copy-number variation is a common source of genomic variation and an important genetic cause of disease. Microarray-based analysis of copy-number... 
read depth | exome sequencing | structural variation | Copy-number variants | diagnostic yield | QT SYNDROME | copy-number variants | SEVERE INTELLECTUAL DISABILITY | DEVELOPMENTAL DELAY | MODEL | POLYMORPHISM | CONGENITAL-ANOMALIES | GENOME | INSERTIONS | GENETICS & HEREDITY | MAP | Original
Journal Article
The American Journal of Human Genetics, ISSN 0002-9297, 09/2017, Volume 101, Issue 3, pp. 466 - 477
Journal Article
Human Molecular Genetics, ISSN 0964-6906, 2016, Volume 25, pp. 546 - 557
De novo disruptions of the neural transcription factor FOXP1 are a recently discovered, rare cause of sporadic intellectual disability (ID). We report three... 
Journal Article
Journal of Medical Genetics, ISSN 0022-2593, 08/2009, Volume 46, Issue 8, pp. 511 - 523
Journal Article