ArticleMolecular autism2019
Neuropsychiatric phenotypes and a distinct constellation of ASD features in 3q29 deletion syndrome: results from the 3q29 registry.
Article in Molecular autism, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 27 papers, 1 of them a synthesis that pooled it.
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Who cites it
27 citing papers in PubMed, 1 synthesis or guideline pooled it, 56 citations in OpenAlex.
- Autism spectrum disorder and schizophrenia: An updated conceptual review.Autism research : official journal of the International Society for Autism Research · 2022Pooled it
- Cerebellar mitochondrial dysfunction coincides with structural and behavioral abnormalities in 3q29Del mice.bioRxiv : the preprint server for biology · 2026Article
- Higher frequencies of CNV deletions in bipolar disorder among Chinese Population.Molecular psychiatry · 2026Article
- Comparison of autism domains across thirty rare variant genotypes.EBioMedicine · 2025Article
- Behavioral Phenotypes and Comorbidity in 3q29 Deletion Syndrome: Results from the 3q29 Registry.Journal of autism and developmental disorders · 2025Article
- Delineation of the Genetic Architecture and Clinical Polymorphism of 3q29 Duplication Syndrome: A Review of the Literature and a Report of Two Novel Patients With Single-Gene BDH1 Duplications.Molecular genetics & genomic medicine · 2025Review
- Structural deviations of the posterior fossa and the cerebellum and their cognitive links in a neurodevelopmental deletion syndrome.Molecular psychiatry · 2024Article
- Beyond IQ: executive function deficits and their relation to functional, clinical, and neuroimaging outcomes in 3q29 deletion syndrome.Psychological medicine · 2024Article
- Visual-Motor Integration Deficits in 3q29 Deletion Syndrome.Journal of autism and developmental disorders · 2024Article
- Study of the genetic association between selected 3q29 region genes and schizophrenia and autism spectrum disorder in the Japanese population.Nagoya journal of medical science · 2024Article
- Adaptive behaviour deficits in individuals with 3q29 deletion syndrome.Journal of intellectual disability research : JIDR · 2024Article
- Musculoskeletal phenotypes in 3q29 deletion syndrome.American journal of medical genetics. Part A · 2023Article
- High level of complexity and global diversity of the 3q29 locus revealed by optical mapping and long-read sequencing.Genome medicine · 2023Article
- Adaptive behavior deficits in individuals with 3q29 deletion syndrome.medRxiv : the preprint server for health sciences · 2023Article
- Musculoskeletal phenotypes in 3q29 deletion syndrome.medRxiv : the preprint server for health sciences · 2023Article
- Autism spectrum disorder symptom expression in individuals with 3q29 deletion syndrome.Molecular autism · 2022Article
- Molecular brain (micro report) oxytocin ameliorates impaired social behavior in a mouse model of 3q29 deletion syndrome.Molecular brain · 2022Article
- Metabolic effects of the schizophrenia-associated 3q29 deletion.Translational psychiatry · 2022Article
- Metabolic effects of the schizophrenia-associated 3q29 deletion.Translational psychiatry · 2022Article
- Craniofacial features of 3q29 deletion syndrome: Application of next-generation phenotyping technology.American journal of medical genetics. Part A · 2021Article
Corrections and comments
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Authors and funding
8 authors at 1 institution in 1 country.
Funding
Abstract
Background: The 1.6 Mb 3q29 deletion is associated with neurodevelopmental and psychiatric phenotypes, including increased risk for autism spectrum disorder (ASD) and a 20 to 40-fold increased risk for schizophrenia. However, the phenotypic spectrum of the deletion, particularly with respect to ASD, remains poorly described. Methods: We ascertained individuals with 3q29 deletion syndrome (3q29Del, "cases," Results: 3q29Del cases report a higher prevalence of autism diagnoses versus the general population (29.0% vs. 1.47%, Conclusions: Our sample of 3q29Del is significantly enriched for ASD diagnosis, especially among females, and features of autism may be present even when an ASD diagnosis is not reported. Further, the constellation of ASD features in this population is distinct from idiopathic ASD, with substantially less impaired social motivation. Our study implies that ASD evaluation should be the standard of care for individuals with 3q29Del. From a research perspective, the distinct ASD subtype present in 3q29Del is an ideal entry point for expanding understanding of ASD.
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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.