ArticleBiological psychiatry2015
The cognitive and behavioral phenotype of the 16p11.2 deletion in a clinically ascertained population.
Article in Biological psychiatry, 2015. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 134 papers, 1 of them a synthesis that pooled it.
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Who cites it
134 citing papers in PubMed, 1 synthesis or guideline pooled it, 288 citations in OpenAlex.
- DNA methylation and general psychopathology in childhood: an epigenome-wide meta-analysis from the PACE consortium.Molecular psychiatry · 2023Pooled it
- Broader autism phenotype, the default mode network, and brain entropy: A network-level hypothesis.Research in neurodiversity · 2026Article
- Shared genetic and molecular architecture between insulin resistance and cognitive performance.medRxiv : the preprint server for health sciences · 2026Article
- Shared genetic architecture of schizophrenia and Alzheimer's disease and related dementias implicates 16p11.2 and lifespan brain vulnerability.Molecular psychiatry · 2026Article
- Review
- Clinical Insights into the Neurodevelopmental Impact of 16p CNVs in an Italian Clinical Cohort.Genes · 2026Article
- The influence of genetic factors on education health and care plan obtainment for pupils with intellectual developmental disabilities.Scientific reports · 2026Article
- A chromosome region linked to neurodevelopmental disorders influences locomotor behavior through sex-specific neural circuits.Nature communications · 2026Article
- Cell villages and Dirichlet modeling map human cell fitness genetics.bioRxiv : the preprint server for biology · 2025Article
- Evaluation of familial phenotype deviation to measure the impact of de novo mutations in autism.Genome medicine · 2025Article
- Developmental milestones and cognitive trajectories in school-aged children with 16p11.2 deletion.Journal of neurodevelopmental disorders · 2025Article
- Differential links in 16p11.2 deletion carriers reveal aberrant connections between large-scale networks.Cerebral cortex (New York, N.Y. : 1991) · 2025Article
- Neurocognitive profiles of 22q11.2 and 16p11.2 deletions and duplications.Molecular psychiatry · 2025Article
- Behavioral Phenotypes and Comorbidity in 3q29 Deletion Syndrome: Results from the 3q29 Registry.Journal of autism and developmental disorders · 2025Article
- Auditory evoked neuromagnetic response latency is associated with language ability in preschoolers with an elevated likelihood of intellectual or developmental disability.Frontiers in integrative neuroscience · 2025Article
- Neurological Insights into 16p11.2- And 22q11.2-Related Disorders: A Mini-Review.Current genomics · 2025Review
- Molecular Genetic and Clinical Characteristics of Fetuses With Chromosome 16 Short-Arm Microdeletions/Microduplications.Journal of clinical laboratory analysis · 2024Article
- The pleiotropic spectrum of proximal 16p11.2 CNVs.American journal of human genetics · 2024Review
- 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
- 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
74 more citing papers are in PubMed but not listed here.
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Authors and funding
26 authors at 9 institutions in 1 country.
Funding
Abstract
backgroundDeletion of the recurrent ~600 kb BP4-BP5 chromosomal region 16p11.2 has been associated with a wide range of neurodevelopmental outcomes.
methodsTo clarify the phenotype of 16p11.2 deletion, we examined the psychiatric and developmental presentation of predominantly clinically referred individuals, with a particular emphasis on broader autism phenotype characteristics in individuals with recurrent ~600 kb chromosome 16p11.2 deletions. Using an extensive standardized assessment battery across three clinical sites, 85 individuals with the 16p11.2 deletion and 153 familial control subjects were evaluated for symptom presentation and clinical diagnosis.
resultsIndividuals with the 16p11.2 deletion presented with a high frequency of psychiatric and developmental disorders (>90%). The most commonly diagnosed conditions were developmental coordination disorder, phonologic processing disorder, expressive and receptive language disorders (71% of individuals >3 years old with a speech and language-related disorder), and autism spectrum disorder. Individuals with the 16p11.2 deletion not meeting diagnostic criteria for autism spectrum disorder had a significantly higher prevalence of autism-related characteristics compared with the familial noncarrier control group. Individuals with the 16p11.2 deletion had a range of intellectual ability, but IQ scores were 26 points lower than noncarrier family members on average.
conclusionsClinically referred individuals with the 16p11.2 deletion have high rates of psychiatric and developmental disorders and provide a genetically well-defined group to study the emergence of developmental difficulties, particularly associated with the broader autism phenotype.
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