ReviewFrontiers in pediatrics2021
Genetic Testing in Neurodevelopmental Disorders.
Review in Frontiers in pediatrics, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 103 papers, 1 of them a synthesis that pooled it.
What it found
Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.
The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
103 citing papers in PubMed, 1 synthesis or guideline pooled it, 209 citations in OpenAlex.
- Diagnostic and clinical utility of exome sequencing and chromosomal microarray in children with GDD/iD: a meta-analysis.Annals of medicine · 2026Pooled it
- New Candidates for Autism/Intellectual Disability Identified by Whole-Exome Sequencing.International journal of molecular sciences · 2021Trial
- Phenotypic Complexity and Diagnostic Utility of Exome Sequencing in ASD: Real-World Insights from Colombia.International journal of molecular sciences · 2026Article
- Utility of Face2Gene's DeepGestalt and D-Score applications in paediatric neurodevelopmental disorders in South Africa.European journal of human genetics : EJHG · 2026Article
- Identifying genetic causes and establishing a diagnostic approach for WES-negative pediatric population with neurodevelopmental disorder.European journal of human genetics : EJHG · 2026Article
- Article
- The NeuroWES project: lessons learned from comprehensive phenotyping and genetic analysis of neurodevelopmental disorders over a decade.Human genetics · 2026Article
- Enigma of autism regression mechanistic pathways, clinical phenotypes, and early intervention implications.World journal of clinical pediatrics · 2026Review
- Neurodegenerative Diseases in Children: A Comprehensive Review.International journal of molecular sciences · 2026Review
- Clinical application of whole exome and genome sequencing in pediatric neurodevelopmental disorders.Clinical and experimental pediatrics · 2026Article
- The First Case of Kleefstra Syndrome in a Rwandan Patient with Global Developmental Delay.Genes · 2026Article
- "It was up to me to be curious": perceptions and experiences of students with intellectual disability on genetics and health education.European journal of human genetics : EJHG · 2026Article
- Shared and distinct phenotypic profiles among neurodevelopmental disorder genes.medRxiv : the preprint server for health sciences · 2026Article
- Challenges associated with disclosing results from whole genome sequencing to diagnose paediatric rare diseases: analysis of parent-clinician interactions.Journal of medical genetics · 2026Article
- Reasons for refusal of genetic testing in the evaluation of autism spectrum disorder and intellectual developmental disorder with longitudinal follow-up on test completion.Genetics in medicine open · 2026Article
- Pathological Insights into Neurodegenerative and Neurodevelopmental Disorders: Perspectives for the Development of Novel Treatment Approaches.CNS & neurological disorders drug targets · 2026Review
- Structural Variant and Repeat Expansion Findings Identified by Optical Genome Mapping in Complex Autism Spectrum Disorder With Concomitant Neurodevelopmental Disorders.Human mutation · 2026Article
- Analyzing the genetic profile of autistic children and adolescents with minimal verbal abilities.Frontiers in genetics · 2026Article
- Evolution of fragile X syndrome and neurodevelopmental disorders research: a Scopus-based bibliometric analysis.Journal of Yeungnam medical science · 2026Article
- PAK1 (p21-Activated Kinase 1) and Its Role in Neurodevelopmental Disorders-New Case Report and a Comprehensive Review.International journal of molecular sciences · 2025Review
43 more citing papers are in PubMed but not listed here.
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
2 authors at 1 institution in 1 country.
Funding
Abstract
Neurodevelopmental disorders are the most prevalent chronic medical conditions encountered in pediatric primary care. In addition to identifying appropriate descriptive diagnoses and guiding families to evidence-based treatments and supports, comprehensive care for individuals with neurodevelopmental disorders includes a search for an underlying etiologic diagnosis, primarily through a genetic evaluation. Identification of an underlying genetic etiology can inform prognosis, clarify recurrence risk, shape clinical management, and direct patients and families to condition-specific resources and supports. Here we review the utility of genetic testing in patients with neurodevelopmental disorders and describe the three major testing modalities and their yields - chromosomal microarray, exome sequencing (with/without copy number variant calling), and
Indexed as
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What OpenQuestion holds
Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.