Systematic Phenomics Analysis Deconvolutes Genes Mutated in Intellectual Disability into Biologically Coherent Modules
نویسندگان
چکیده
منابع مشابه
Human Intellectual Disability Genes Form Conserved Functional Modules in Drosophila
Intellectual Disability (ID) disorders, defined by an IQ below 70, are genetically and phenotypically highly heterogeneous. Identification of common molecular pathways underlying these disorders is crucial for understanding the molecular basis of cognition and for the development of therapeutic intervention strategies. To systematically establish their functional connectivity, we used transgeni...
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Consanguinity is an important determinant of birth defects including intellectual disability (ID). Consanguineous populations have a relative high prevalence of autosomal recessive forms of intellectual disability (ARID), which constitute a highly heterogeneous group of disorders both in their clinical presentation and in their genetic aetiology. The availability of large cohorts of consanguine...
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X-linked Intellectual Disability (XLID) is a group of genetically heterogeneous disorders caused by mutations in genes on the X chromosome. Deleterious mutations in ~10% of X chromosome genes are implicated in causing XLID disorders in ~50% of known and suspected XLID families. The remaining XLID genes are expected to be rare and even private to individual families. To systematically identify t...
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ژورنال
عنوان ژورنال: The American Journal of Human Genetics
سال: 2016
ISSN: 0002-9297
DOI: 10.1016/j.ajhg.2015.11.024