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

V Des Portes - Handbook of clinical neurology, 2020 - Elsevier
Intellectual disability (ID) or intellectual developmental disability (IDD) is one of the
commonest neurodevelopmental disabilities worldwide and is known to affect 2% of the …

[HTML][HTML] The genetics of intellectual disability

S Jansen, LELM Vissers, BBA de Vries - Brain Sciences, 2023 - mdpi.com
Intellectual disability (ID) has a prevalence of~ 2–3% in the general population, having a
large societal impact. The underlying cause of ID is largely of genetic origin; however …

Genetic studies in intellectual disability and related disorders

LELM Vissers, C Gilissen, JA Veltman - Nature Reviews Genetics, 2016 - nature.com
Genetic factors play a major part in intellectual disability (ID), but genetic studies have been
complicated for a long time by the extreme clinical and genetic heterogeneity. Recently …

[HTML][HTML] 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 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 …

Clinical genomics expands the morbid genome of intellectual disability and offers a high diagnostic yield

S Anazi, S Maddirevula, E Faqeih, H Alsedairy… - Molecular …, 2017 - nature.com
Intellectual disability (ID) is a measurable phenotypic consequence of genetic and
environmental factors. In this study, we prospectively assessed the diagnostic yield of …

The use of next-generation sequencing for research and diagnostics for intellectual disability

R Harripaul, A Noor, M Ayub… - Cold Spring …, 2017 - perspectivesinmedicine.cshlp.org
Genetic or genomic mutation is a major cause of intellectual disability (ID). However, despite
the generally anticipated strong genotype/phenotype correlation for ID, there are huge …

Next-generation sequencing in intellectual disability

GL Carvill, HC Mefford - Journal of pediatric genetics, 2015 - thieme-connect.com
Next-generation sequencing technologies have revolutionized gene discovery in patients
with intellectual disability (ID) and led to an unprecedented expansion in the number of …

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 …