[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 …
large societal impact. The underlying cause of ID is largely of genetic origin; however …
Genetic studies in intellectual disability and related disorders
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 …
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 …
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
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 …
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 …
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 …
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 …
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 …
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
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 …
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 …
3% of the general population. The number of ID-causing genes is high. Many X-linked …