ArticleJournal of applied genetics2014
Application of array comparative genomic hybridization in 256 patients with developmental delay or intellectual disability.
Article in Journal of applied genetics, 2014. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 24 papers, 1 of them a synthesis that pooled it.
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Who cites it
24 citing papers in PubMed, 1 synthesis or guideline pooled it.
- Diagnostic and clinical utility of exome sequencing and chromosomal microarray in children with GDD/iD: a meta-analysis.Annals of medicine · 2026Pooled it
- Array-CGH in children with mild intellectual disability: a population-based study.European journal of pediatrics · 2015Trial
- Diagnostic yield of the chromosomal microarray analysis in turkish patients with unexplained development delay/ıntellectual disability(ID), autism spectrum disorders and/or multiple congenital anomalies and new clinical findings.Molecular biology reports · 2024Article
- An allelic series of spontaneous Rorb mutant mice exhibit a gait phenotype, changes in retina morphology and behavior, and gene expression signatures associated with the unfolded protein response.G3 (Bethesda, Md.) · 2023Article
- Article
- Pathogenic Copy Number Variations Involved in the Genetic Etiology of Syndromic and Non-Syndromic Intellectual Disability-Data from a Romanian Cohort.Diagnostics (Basel, Switzerland) · 2022Article
- A de novo 10q11.23q22.1 deletion detected by whole genome mate-pair sequencing: a case report.BMC pediatrics · 2021Article
- Paediatric genomic testing: Navigating medicare rebatable genomic testing.Journal of paediatrics and child health · 2021Article
- Genetic Testing in Neurodevelopmental Disorders.Frontiers in pediatrics · 2021Review
- Chromosomal Microarray Analysis Has a Poor Diagnostic Yield in Children with Developmental Delay/Intellectual Disability When Concurrent Cerebellar Anomalies Are Present.Cerebellum (London, England) · 2020Article
- Testing single/combined clinical categories on 5110 Italian patients with developmental phenotypes to improve array-based detection rate.Molecular genetics & genomic medicine · 2020Article
- Copy Number Variations in a Cohort of 420 Individuals with Neurodevelopmental Disorders From the South of Brazil.Scientific reports · 2019Article
- Clinical and molecular cytogenetic characterization of a novel 10q interstitial deletion: a case report and review of the literature.Molecular cytogenetics · 2019Article
- Importance of patient selection criteria in determining diagnostic copy number variations in patients with multiple congenital anomaly/mental retardation.Molecular cytogenetics · 2019Article
- Haploinsufficiency of the Chromatin Remodeler BPTF Causes Syndromic Developmental and Speech Delay, Postnatal Microcephaly, and Dysmorphic Features.American journal of human genetics · 2017Article
- De Novo Disruption of the Proteasome Regulatory Subunit PSMD12 Causes a Syndromic Neurodevelopmental Disorder.American journal of human genetics · 2017Article
- Prenatal Diagnosis of a 2.5 Mb De Novo 17q24.1q24.2 Deletion EncompassingCase reports in genetics · 2017Article
- Application of high resolution SNP arrays in patients with congenital oral clefts in south China.Journal of genetics · 2016Article
- Importance of genetic testing in global health during the evaluation of familial microcephaly.Clinical case reports · 2016Article
- Partial 1q Duplications and Associated Phenotype.Molecular syndromology · 2016Article
Corrections and comments
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Authors and funding
20 authors.
Funding
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Abstract
We used whole-genome exon-targeted oligonucleotide array comparative genomic hybridization (array CGH) in a cohort of 256 patients with developmental delay (DD)/intellectual disability (ID) with or without dysmorphic features, additional neurodevelopmental abnormalities, and/or congenital malformations. In 69 patients, we identified 84 non-polymorphic copy-number variants, among which 41 are known to be clinically relevant, including two recently described deletions, 4q21.21q21.22 and 17q24.2. Chromosomal microarray analysis revealed also 15 potentially pathogenic changes, including three rare deletions, 5q35.3, 10q21.3, and 13q12.11. Additionally, we found 28 copy-number variants of unknown clinical significance. Our results further support the notion that copy-number variants significantly contribute to the genetic etiology of DD/ID and emphasize the efficacy of the detection of novel candidate genes for neurodevelopmental disorders by whole-genome array CGH.
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