[HTML][HTML] Prioritized high-confidence risk genes for intellectual disability reveal molecular convergence during brain development

Z Liu, N Zhang, Y Zhang, Y Du, T Zhang, Z Li… - Frontiers in …, 2018 - frontiersin.org
Dissecting the genetic susceptibility to intellectual disability (ID) based on de novo mutations
(DNMs) will aid our understanding of the neurobiological and genetic basis of ID. In this …

[PDF][PDF] Intellectual disability, the long way from genes to biological mechanisms

M Marti, MIP Millan, JI Young… - J Transl Genet …, 2020 - pdfs.semanticscholar.org
Approximately 2% of the world population is affected by intellectual disability (ID). Huge
efforts in sequencing and analysis of individual human genomes have identified several …

[HTML][HTML] Phenotypic and genotypic characterization of families with complex intellectual disability identified pathogenic genetic variations in known and novel disease …

H Darvish, LJ Azcona, A Tafakhori, R Mesias… - Scientific reports, 2020 - nature.com
Intellectual disability (ID), which presents itself during childhood, belongs to a group of
neurodevelopmental disorders (NDDs) that are clinically widely heterogeneous and highly …

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 …

[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 …

IDGenetics: a comprehensive database for genes and mutations of intellectual disability related disorders

C Chen, D Chen, H Xue, X Liu, T Zhang, S Tang… - Neuroscience …, 2018 - Elsevier
Intellectual disability (ID) is one of the most prevalent chronic developmental brain disorders
or phenotype of syndromic ID, affecting nearly 1-2% of the general population worldwide …

[HTML][HTML] Systematic phenomics analysis deconvolutes genes mutated in intellectual disability into biologically coherent modules

K Kochinke, C Zweier, B Nijhof, M Fenckova… - The American Journal of …, 2016 - cell.com
Intellectual disability (ID) disorders are genetically and phenotypically extremely
heterogeneous. Can this complexity be depicted in a comprehensive way as a means of …

[HTML][HTML] Genome-wide investigation of an ID cohort reveals de novo 3′ UTR variants affecting gene expression

P Devanna, M Van de Vorst, R Pfundt, C Gilissen… - Human Genetics, 2018 - Springer
Intellectual disability (ID) is a severe neurodevelopmental disorder with genetically
heterogeneous causes. Large-scale sequencing has led to the identification of many gene …

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] 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 …