Expanding the genetic heterogeneity of intellectual disability

S Anazi, S Maddirevula, V Salpietro, YT Asi, S Alsahli… - Human genetics, 2017 - Springer
Intellectual disability (ID) is a common morbid condition with a wide range of etiologies. The
list of monogenic forms of ID has increased rapidly in recent years thanks to the …

De Novo Mutations in Moderate or Severe Intellectual Disability

FF Hamdan, M Srour, JM Capo-Chichi, H Daoud… - PLoS …, 2014 - journals.plos.org
Genetics is believed to have an important role in intellectual disability (ID). Recent studies
have emphasized the involvement of de novo mutations (DNMs) in ID but the extent to which …

Efficient strategy for the molecular diagnosis of intellectual disability using targeted high-throughput sequencing

C Redin, B Gérard, J Lauer, Y Herenger… - Journal of medical …, 2014 - jmg.bmj.com
Background Intellectual disability (ID) is characterised by an extreme genetic heterogeneity.
Several hundred genes have been associated to monogenic forms of ID, considerably …

Homozygosity mapping in 64 Syrian consanguineous families with non-specific intellectual disability reveals 11 novel loci and high heterogeneity

R Abou Jamra, S Wohlfart, M Zweier, S Uebe… - European Journal of …, 2011 - nature.com
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 …

High diagnostic yield of syndromic intellectual disability by targeted next-generation sequencing

F Martínez, A Caro-Llopis, M Roselló, S Oltra… - Journal of medical …, 2017 - jmg.bmj.com
Background Intellectual disability is a very complex condition where more than 600 genes
have been reported. Due to this extraordinary heterogeneity, a large proportion of patients …

Exome sequencing reveals predominantly de novo variants in disorders with intellectual disability (ID) in the founder population of Finland

I Järvelä, T Määttä, A Acharya, J Leppälä… - Human Genetics, 2021 - Springer
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 …

Meta-analysis of 2,104 trios provides support for 10 new genes for intellectual disability

SH Lelieveld, MRF Reijnders, R Pfundt… - Nature …, 2016 - nature.com
To identify candidate genes for intellectual disability, we performed a meta-analysis on
2,637 de novo mutations, identified from the exomes of 2,104 patient–parent trios. Statistical …

The diagnostic yield, candidate genes, and pitfalls for a genetic study of intellectual disability in 118 middle eastern families

G Al-Kasbi, F Al-Murshedi, A Al-Kindi, N Al-Hashimi… - Scientific Reports, 2022 - nature.com
Abstract Global Developmental Delay/Intellectual disability (ID) is the term used to describe
various disorders caused by abnormal brain development and characterized by impairments …

Targeted next‐generation sequencing analysis of 1,000 individuals with intellectual disability

D Grozeva, K Carss, O Spasic‐Boskovic… - Human …, 2015 - Wiley Online Library
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 …

[HTML][HTML] Advances in understanding–genetic basis of intellectual disability

P Chiurazzi, F Pirozzi - F1000Research, 2016 - ncbi.nlm.nih.gov
Intellectual disability is the most common developmental disorder characterized by a
congenital limitation in intellectual functioning and adaptive behavior. It often co-occurs with …