[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] Intellectual disability genomics: current state, pitfalls and future challenges

N Maia, MJ Nabais Sá, M Melo-Pires, APM de Brouwer… - BMC genomics, 2021 - Springer
Intellectual disability (ID) can be caused by non-genetic and genetic factors, the latter being
responsible for more than 1700 ID-related disorders. The broad ID phenotypic and genetic …

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 …

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 …

Diagnostic yield of intellectual disability gene panels

H Pekeles, A Accogli, N Boudrahem-Addour… - Pediatric …, 2019 - Elsevier
Background Recent technological advances have improved the understanding and
identification of the genetic basis of intellectual disability (ID) and global developmental …

Next generation sequencing in nonsyndromic intellectual disability: from a negative molecular karyotype to a possible causative mutation detection

E Athanasakis, D Licastro, F Faletra… - American Journal of …, 2014 - Wiley Online Library
The identification of causes underlying intellectual disability (ID) is one of the most
demanding challenges for clinical Geneticists and Researchers. Despite molecular …

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 …

[HTML][HTML] Comprehensive whole genome sequence analyses yields novel genetic and structural insights for Intellectual Disability

FR Zahir, JC Mwenifumbo, HJE Chun, EL Lim… - BMC genomics, 2017 - Springer
Abstract Background Intellectual Disability (ID) is among the most common global disorders,
yet etiology is unknown in~ 30% of patients despite clinical assessment. Whole genome …

Advances in identification of genes involved in autosomal recessive intellectual disability: a brief review

YR Mir, RAH Kuchay - Journal of medical genetics, 2019 - jmg.bmj.com
Intellectual disability (ID) is a clinically and genetically heterogeneous disorder, affecting 1%–
3% of the general population. The number of ID-causing genes is high. Many X-linked …