The detection of high-qualified indels in exomes and their effect on cognition
N Younis - 2022 - papyrus.bib.umontreal.ca
Genetic insertions/deletions (indels) have been linked to many neurodevelopmental
disorders (NDDs) such as autism spectrum disorder (ASD) and intellectual disability (ID) …
disorders (NDDs) such as autism spectrum disorder (ASD) and intellectual disability (ID) …
Targeted sequencing identifies risk variants in 202 candidate genes for neurodevelopmental disorders
N Pang, K Li, S Tan, M Chen, F He, C Chen, L Yang… - Gene, 2024 - Elsevier
With the continuous deepening of genetic research on neurodevelopmental disorders
(NDDs), more patients have been identified the causal or candidate genes. However, it is …
(NDDs), more patients have been identified the causal or candidate genes. However, it is …
Performance of case-control rare copy number variation annotation in classification of autism
Background A substantial proportion of Autism Spectrum Disorder (ASD) risk resides in de
novo germline and rare inherited genetic variation. In particular, rare copy number variation …
novo germline and rare inherited genetic variation. In particular, rare copy number variation …
AutoCaSc: Prioritizing candidate genes for neurodevelopmental disorders
Routine exome sequencing (ES) in individuals with neurodevelopmental disorders (NDD)
remains inconclusive in> 50% of the cases. Research analysis of unsolved cases can …
remains inconclusive in> 50% of the cases. Research analysis of unsolved cases can …
Differences in the importance of microcephaly, dysmorphism, and epilepsy in the detection of pathogenic CNVs in ID and ASD patients
Z Capkova, P Capkova, J Srovnal, K Staffova… - PeerJ, 2019 - peerj.com
Background Autism spectrum disorders (ASD) and intellectual disabilities (ID) are
heterogeneous and complex developmental diseases with significant genetic backgrounds …
heterogeneous and complex developmental diseases with significant genetic backgrounds …
[PDF][PDF] AutoCaSc: Prioritizing candidate genes for neurodevelopmental disorders
Routine exome sequencing (ES) in individuals with neurodevelopmental disorders (NDD)
remains inconclusive in> 50%. Research analysis of unsolved cases can identify novel …
remains inconclusive in> 50%. Research analysis of unsolved cases can identify novel …
Identification of rare recurrent copy number variants in high-risk autism families and their prevalence in a large ASD population
N Matsunami, D Hadley, CH Hensel, GB Christensen… - PloS one, 2013 - journals.plos.org
Structural variation is thought to play a major etiological role in the development of autism
spectrum disorders (ASDs), and numerous studies documenting the relevance of copy …
spectrum disorders (ASDs), and numerous studies documenting the relevance of copy …
A discovery resource of rare copy number variations in individuals with autism spectrum disorder
The identification of rare inherited and de novo copy number variations (CNVs) in human
subjects has proven a productive approach to highlight risk genes for autism spectrum …
subjects has proven a productive approach to highlight risk genes for autism spectrum …
A Solve-RD ClinVar-based reanalysis of 1522 index cases from ERN-ITHACA reveals common pitfalls and misinterpretations in exome sequencing
AS Denommé-Pichon, L Matalonga, E de Boer… - Genetics in …, 2023 - Elsevier
Abstract Purpose Within the Solve-RD project (https://solve-rd. eu/), the European Reference
Network for Intellectual disability, TeleHealth, Autism and Congenital Anomalies aimed to …
Network for Intellectual disability, TeleHealth, Autism and Congenital Anomalies aimed to …
Using large clinical data sets to infer pathogenicity for rare copy number variants in autism cohorts
Copy number variants (CNVs) have a major role in the etiology of autism spectrum disorders
(ASD), and several of these have reached statistical significance in case–control analyses …
(ASD), and several of these have reached statistical significance in case–control analyses …