Approximately 1% of the global population is affected by intellectual disability (ID), and the
majority receive no molecular diagnosis. Previous studies have indicated high levels of …

Intellectual disability (ID) is a clinically and genetically heterogeneous disorder, affecting 1–
3% of the general population. Although research into the genetic causes of ID has recently …

Autosomal recessive (AR) gene defects are the leading genetic cause of intellectual
disability (ID) in countries with frequent parental consanguinity, which account for about …

In outbred Western populations, most individuals with intellectual disability (ID) are sporadic
cases, dominant de novo mutations (DNM) are frequent, and autosomal recessive ID (ARID) …

The genetics of autosomal recessive intellectual disability (ARID) has mainly been studied in
consanguineous families, however, founder populations may also be of interest to study …

Intellectual disability (ID) is a measurable phenotypic consequence of genetic and
environmental factors. In this study, we prospectively assessed the diagnostic yield of …

Abstract Global Developmental Delay/Intellectual disability (ID) is the term used to describe
various disorders caused by abnormal brain development and characterized by impairments …

Non-specific intellectual disability of autosomal recessive inheritance (NS-ARID) represents
an important fraction of severe cognitive dysfunction disorders. To date, only 10 genes have …

Identification of Mendelian genes for neurodevelopmental disorders using exome
sequencing to study autosomal recessive (AR) consanguineous pedigrees has been highly …

To identify genetic causes of intellectual disability (ID), we screened a cohort of 986
individuals with moderate to severe ID for variants in 565 known or candidate ID‐associated …