The genetic basis of non-syndromic intellectual disability: a review

L Kaufman, M Ayub, JB Vincent - Journal of neurodevelopmental disorders, 2010 - Springer
Intellectual disability (ID), also referred to as mental retardation (MR), is frequently the result
of genetic mutation. Where ID is present together with additional clinical symptoms or …

Genetic basis of intellectual disability

JW Ellison, JA Rosenfeld… - Annual review of medicine, 2013 - annualreviews.org
In the past decade, we have witnessed a flood of reports about mutations that cause or
contribute to intellectual disability (ID). This rapid progress has been driven in large part by …

Intellectual disability and autism spectrum disorders: causal genes and molecular mechanisms

AK Srivastava, CE Schwartz - Neuroscience & Biobehavioral Reviews, 2014 - Elsevier
Intellectual disability (ID) and autism spectrum disorder (ASD) are the most common
developmental disorders present in humans. Combined, they affect between 3 and 5% of …

[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 …

Genetics of intellectual disability

HH Ropers - Current opinion in genetics & development, 2008 - Elsevier
Early onset intellectual disability (ID) is one of the largest unsolved problems of health care.
Yet, it has received very little public attention in the past because many health care …

Genetics of mental retardation

P Chiurazzi, BA Oostra - Current opinion in pediatrics, 2000 - journals.lww.com
Aim of this review is to present the latest advances in the identification of the genetic
determinants of intellectual deficiency. Mental retardation (MR) is often associated with other …

Genetic and epigenetic networks in intellectual disabilities

H Van Bokhoven - Annual review of genetics, 2011 - annualreviews.org
Mutations in more than 450 different genes have been associated with intellectual disability
(ID) and related cognitive disorders (CDs), such as autism. It is to be expected that this …

Characterization of intellectual disability and autism comorbidity through gene panel sequencing

MC Aspromonte, M Bellini, A Gasparini… - Human …, 2019 - Wiley Online Library
Intellectual disability (ID) and autism spectrum disorder (ASD) are clinically and genetically
heterogeneous diseases. Recent whole exome sequencing studies indicated that genes …

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 …