ArticleJournal of autism and developmental disorders2016
Autism Spectrum Disorder, Developmental and Psychiatric Features in 16p11.2 Duplication.
Article in Journal of autism and developmental disorders, 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 38 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
38 citing papers in PubMed, 1 synthesis or guideline pooled it.
- Autism spectrum disorder and schizophrenia: An updated conceptual review.Autism research : official journal of the International Society for Autism Research · 2022Pooled it
- Motor Impairment in Children with 16p11.2-Deletion and -Duplication Syndromes.Journal of autism and developmental disorders · 2026Article
- Review
- Clinical Insights into the Neurodevelopmental Impact of 16p CNVs in an Italian Clinical Cohort.Genes · 2026Article
- Cell-type specific global reprogramming of the transcriptome and epigenome in induced neurons with the 16p11.2 neuropsychiatric CNVs.European journal of human genetics : EJHG · 2025Article
- Disentangling mechanisms behind the pleiotropic effects of proximal 16p11.2 BP4-5 CNVs.American journal of human genetics · 2024Article
- Language Profiles of School-Age Children With 16p11.2 Copy Number Variants in a Clinically Ascertained Cohort.Journal of speech, language, and hearing research : JSLHR · 2024Article
- The pleiotropic spectrum of proximal 16p11.2 CNVs.American journal of human genetics · 2024Review
- Evaluation of 100 Dutch cases with 16p11.2 deletion and duplication syndromes; from clinical manifestations towards personalized treatment options.European journal of human genetics : EJHG · 2024Article
- Motor difficulties in 16p11.2 copy number variation.Autism research : official journal of the International Society for Autism Research · 2024Article
- Adaptive behaviour deficits in individuals with 3q29 deletion syndrome.Journal of intellectual disability research : JIDR · 2024Article
- Understanding copy number variations through their genes: a molecular view on 16p11.2 deletion and duplication syndromes.Frontiers in pharmacology · 2024Review
- Suicidal Risk Behaviors in Adolescents With Rare Neurodevelopmental Disorders: The Role of Sex, Autistic Traits, and Mental Health Difficulties.Journal of pediatric psychology · 2023Article
- 16p11.2 Microduplication Syndrome with Increased Fluid in the Cisterna: Coincidence or Phenotype Extension?Genes · 2023Review
- Adaptive behavior deficits in individuals with 3q29 deletion syndrome.medRxiv : the preprint server for health sciences · 2023Article
- Characterizing Sleep Problems in 16p11.2 Deletion and Duplication.Journal of autism and developmental disorders · 2023Article
- Sensory processing in 16p11.2 deletion and 16p11.2 duplication.Autism research : official journal of the International Society for Autism Research · 2022Article
- Reversal of synaptic and behavioral deficits in a 16p11.2 duplication mouse model via restoration of the GABA synapse regulator Npas4.Molecular psychiatry · 2021Article
- 16p11.2 deletion syndrome.Current opinion in genetics & development · 2021Review
- Human stem cell-based models for studying autism spectrum disorder-related neuronal dysfunction.Molecular autism · 2020Review
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
19 authors.
Funding
Abstract
The 16p11.2 duplication (BP4-BP5) is associated with Autism Spectrum Disorder (ASD), although significant heterogeneity exists. Quantitative ASD, behavioral and neuropsychological measures and DSM-IV diagnoses in child and adult carriers were compared with familial non-carrier controls, and to published results from deletion carriers. The 16p11.2 duplication phenotype ranges widely from asymptomatic presentation to significant disability. The most common diagnoses were intellectual disability, motor delays and Attention Deficit Hyperactivity Disorder in children, and anxiety in adults. ASD occurred in nearly 20 % of child cases, but a majority of carriers did not show the unique social features of ASD. The 16p11.2 duplication phenotype is characterized by wider variability than the reciprocal deletion, likely reflecting contributions from additional risk factors.
Indexed as
Identifiers
27207092What 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.