[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 …
(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 …
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 …
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 …
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 …
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 …
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 …
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 …
heterogeneous causes. Large-scale sequencing has led to the identification of many gene …
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] 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 …
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