ArticleGenes2020
Next Generation Sequencing of 134 Children with Autism Spectrum Disorder and Regression.
Article in Genes, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 18 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
18 citing papers in PubMed, 1 synthesis or guideline pooled it, 27 citations in OpenAlex.
- The Diagnostic Yield of Investigating Developmental Regression in Children: A Systematic Review and Meta-Analysis.Journal of autism and developmental disorders · 2026Pooled it
- Defining and Measuring Developmental Regression During Childhood: A Scoping Review.Autism research : official journal of the International Society for Autism Research · 2026Article
- The Recycling Endosomal (NaActa physiologica (Oxford, England) · 2026Article
- Ultrarare Variants in DNA Damage Repair and Mitochondrial Genes in Pediatric Acute-Onset Neuropsychiatric Syndrome and Acute Behavioral Regression in Neurodevelopmental Disorders.Developmental neuroscience · 2026Article
- Monogenic defects in Russian children with autism spectrum disorders.World journal of clinical pediatrics · 2025Article
- Towards an agreed approach to investigate children with developmental regression.BMJ paediatrics open · 2025Article
- Missense variants in SLC9A6 cause partial epilepsy without neurodevelopmental delay.Orphanet journal of rare diseases · 2025Article
- Comparative Analysis of Phenotypic and Genotypic Differences Between Individuals Affected by Regressive and Non-Regressive Autism: A Cross-Sectional Study.Autism research : official journal of the International Society for Autism Research · 2025Article
- Biallelic variants in Plexin B2 (Journal of medical genetics · 2024Article
- Exploration of Risk Factors for Language Regression According to Parent Reports in Turkish Children with Autism Spectrum Disorder.Psychiatry and clinical psychopharmacology · 2024Article
- The Role ofInternational journal of molecular sciences · 2023Article
- Article
- Loss of Acquired Skills: Regression in Young Children With Autism Spectrum Disorders.Journal of the Korean Academy of Child and Adolescent Psychiatry · 2023Article
- Rare variants and the oligogenic architecture of autism.Trends in genetics : TIG · 2022Review
- Identification of ultra-rare genetic variants in pediatric acute onset neuropsychiatric syndrome (PANS) by exome and whole genome sequencing.Scientific reports · 2022Article
- Autism Spectrum Disorder: Focus on Glutamatergic Neurotransmission.International journal of molecular sciences · 2022Review
- Investigation the Relationship of Autism Spectrum Disorder andNoro psikiyatri arsivi · 2021Article
- Review
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
10 authors at 4 institutions in 3 countries.
Funding
Abstract
Approximately 30% of individuals with autism spectrum disorder (ASD) experience developmental regression, the etiology of which remains largely unknown. We performed a complete literature search and identified 47 genes that had been implicated in such cases. We sequenced these genes in a preselected cohort of 134 individuals with regressive autism. In total, 16 variants in 12 genes with evidence supportive of pathogenicity were identified. They were classified as variants of uncertain significance based on ACMG standards and guidelines. Among these were recurring variants in
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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.