ArticleNature communications2019
Predictive impact of rare genomic copy number variations in siblings of individuals with autism spectrum disorders.
Article in Nature communications, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 25 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
25 citing papers in PubMed, 1 synthesis or guideline pooled it, 40 citations in OpenAlex.
- Pooled it
- Subclinical neuropsychiatric trait variation in parents of children with autism spectrum disorder: a cohort study.Molecular autism · 2026Article
- Mitigating Sex-Related Biases to Elucidate the Autism Phenotype.Biological psychiatry · 2026Review
- Clinical utility of genome sequencing in autism: illustrative examples from a genomic research study.Journal of medical genetics · 2025Article
- Chromosome X-wide common variant association study in autism spectrum disorder.American journal of human genetics · 2025Article
- Family history of psychiatric conditions and development of siblings of children with autism.Autism research : official journal of the International Society for Autism Research · 2024Article
- Chromosome X-Wide Common Variant Association Study (XWAS) in Autism Spectrum Disorder.medRxiv : the preprint server for health sciences · 2024Article
- The Phenotypic variability of 16p11.2 distal BP2-BP3 deletion in a transgenerational family and in neurodevelopmentally ascertained samples.Journal of medical genetics · 2023Article
- Gene copy number variation and pediatric mental health/neurodevelopment in a general population.Human molecular genetics · 2023Article
- Oscillatory biomarkers of autism: evidence from the innate visual fear evoking paradigm.Cognitive neurodynamics · 2023Article
- Disruption of DDX53 coding sequence has limited impact on iPSC-derived human NGN2 neurons.BMC medical genomics · 2023Article
- Article
- Beyond Genes: Germline Disruption in the Etiology of Autism Spectrum Disorders.Journal of autism and developmental disorders · 2022Article
- Novel clinical, molecular and bioinformatics insights into the genetic background of autism.Human genomics · 2022Article
- Urinary Untargeted Metabolic Profile Differentiates Children with Autism from Their Unaffected Siblings.Metabolites · 2022Article
- Mutations in trpγ, the homologue of TRPC6 autism candidate gene, causes autism-like behavioral deficits in Drosophila.Molecular psychiatry · 2022Article
- Towards accurate and reliable resolution of structural variants for clinical diagnosis.Genome biology · 2022Review
- A recurrent SHANK3 frameshift variant in Autism Spectrum Disorder.NPJ genomic medicine · 2021Article
- Association between spectral electroencephalography power and autism risk and diagnosis in early development.Autism research : official journal of the International Society for Autism Research · 2021Article
- Clinical and Translational Implications of an Emerging Developmental Substructure for Autism.Annual review of clinical psychology · 2021Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
22 authors at 10 institutions in 3 countries.
Funding
Abstract
Identification of genetic biomarkers associated with autism spectrum disorders (ASDs) could improve recurrence prediction for families with a child with ASD. Here, we describe clinical microarray findings for 253 longitudinally phenotyped ASD families from the Baby Siblings Research Consortium (BSRC), encompassing 288 infant siblings. By age 3, 103 siblings (35.8%) were diagnosed with ASD and 54 (18.8%) were developing atypically. Thirteen siblings have copy number variants (CNVs) involving ASD-relevant genes: 6 with ASD, 5 atypically developing, and 2 typically developing. Within these families, an ASD-related CNV in a sibling has a positive predictive value (PPV) for ASD or atypical development of 0.83; the Simons Simplex Collection of ASD families shows similar PPVs. Polygenic risk analyses suggest that common genetic variants may also contribute to ASD. CNV findings would have been pre-symptomatically predictive of ASD or atypical development in 11 (7%) of the 157 BSRC siblings who were eventually diagnosed clinically.
Indexed as
Identifiers
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.