Add to ORKGAbstract The contribution of de novo variants in severe intellectual disability (ID) has been extensively studied whereas the genetics of mild ID has been less characterized. To elucidate the genetics of milder ID we studied 442 ID patients enriched for mild ID (>50%) from a population isolate of Finland. Using exome sequencing, we show that rare damaging variants in known ID genes are observed significantly more often in severe (27%) than in mild ID (13%) patients. We further observe a significant enrichment of functional variants in genes not yet associated with ID (OR: 2.1). We show that a common variant polygenic risk significantly contributes to ID. The heritability explained by polygenic risk score is the highest for educational atta...
International audienceTo identify genetic causes of intellectual disability (ID), we screened a coho...
BACKGROUND: High resolution genome-wide copy number analysis, routinely used in clinical diagnosis f...
Intellectual disability (ID) is a neurodevelopmental disorder that affects 1-3% of the population an...
The contribution of de novo variants in severe intellectual disability (ID) has been extensively stu...
The genetics of autosomal recessive intellectual disability (ARID) has mainly been studied in consan...
Background The genetic cause of intellectual disability in most patients is unclear because of the a...
BACKGROUND: The genetic cause of intellectual disability in most patients is unclear because of the ...
Mutations in more than 500 genes have been associated with intellectual disability (ID) and related ...
Severe intellectual disability (ID) occurs in 0.5% of newborns and is thought to be largely genetic ...
Abstract Background Intellectual disability (ID) is a phenotypically and genetically heterogeneous d...
Early onset intellectual disability (ID) is one of the largest unsolved problems of health care. Yet...
International audienceTo identify genetic causes of intellectual disability (ID), we screened a coho...
BACKGROUND: High resolution genome-wide copy number analysis, routinely used in clinical diagnosis f...
Intellectual disability (ID) is a neurodevelopmental disorder that affects 1-3% of the population an...
The contribution of de novo variants in severe intellectual disability (ID) has been extensively stu...
The genetics of autosomal recessive intellectual disability (ARID) has mainly been studied in consan...
Background The genetic cause of intellectual disability in most patients is unclear because of the a...
BACKGROUND: The genetic cause of intellectual disability in most patients is unclear because of the ...
Mutations in more than 500 genes have been associated with intellectual disability (ID) and related ...
Severe intellectual disability (ID) occurs in 0.5% of newborns and is thought to be largely genetic ...
Abstract Background Intellectual disability (ID) is a phenotypically and genetically heterogeneous d...
Early onset intellectual disability (ID) is one of the largest unsolved problems of health care. Yet...
International audienceTo identify genetic causes of intellectual disability (ID), we screened a coho...
BACKGROUND: High resolution genome-wide copy number analysis, routinely used in clinical diagnosis f...
Intellectual disability (ID) is a neurodevelopmental disorder that affects 1-3% of the population an...
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