ArticleMolecular autism2018
Inherited and multiple de novo mutations in autism/developmental delay risk genes suggest a multifactorial model.
Article in Molecular autism, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 99 papers.
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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.
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Who cites it
99 citing papers in PubMed, 168 citations in OpenAlex.
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- Short Stature and Developmental Delay Associated With a Novel Frame-Shift Mutation in ZNF292: Case Report and Literature Review.Clinical case reports · 2025Article
- Enhancing Genetic Insight: Chromosomal Microarray Enhances Understanding of Genetics in Rubinstein-Taybi Syndrome.Molecular syndromology · 2025Article
- Protein-truncating variants and deletions of SHANK2 are associated with autism spectrum disorder and other neurodevelopmental concerns.Journal of neurodevelopmental disorders · 2025Article
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- Genetic advances in neurodevelopmental disorders.Medical review (2021) · 2025Review
- Evaluation of the synapse adhesion molecule Kirrel3 in neurological disease.Frontiers in neurology · 2025Review
- Genetic Variant Analyses Identify Novel Candidate Autism Risk Genes from a Highly Consanguineous Cohort of 104 Families from Oman.International journal of molecular sciences · 2024Article
- Genetic Heterogeneity in Four Probands RevealsBiomedicines · 2024Article
- Autism-Linked Mutations in αPharmaceuticals (Basel, Switzerland) · 2024Article
- Genome Sequencing Identifies 13 Novel Candidate Risk Genes for Autism Spectrum Disorder in a Qatari Cohort.International journal of molecular sciences · 2024Article
- Autism patient-derived SHANK2BMolecular psychiatry · 2024Article
- Association between rare, genetic variants linked to autism and ultrasonography fetal anomalies in children with autism spectrum disorder.Journal of neurodevelopmental disorders · 2024Article
39 more citing papers are in PubMed but not listed here.
Corrections and comments
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Authors and funding
45 authors at 9 institutions in 2 countries.
Funding
Abstract
Background: We previously performed targeted sequencing of autism risk genes in probands from the Autism Clinical and Genetic Resources in China (ACGC) (phase I). Here, we expand this analysis to a larger cohort of patients (ACGC phase II) to better understand the prevalence, inheritance, and genotype-phenotype correlations of likely gene-disrupting (LGD) mutations for autism candidate genes originally identified in cohorts of European descent. Methods: We sequenced 187 autism candidate genes in an additional 784 probands and 85 genes in 599 probands using single-molecule molecular inversion probes. We tested the inheritance of potentially pathogenic mutations, performed a meta-analysis of phase I and phase II data and combined our results with existing exome sequence data to investigate the phenotypes of carrier parents and patients with multiple hits in different autism risk genes. Results: We validated recurrent, LGD, de novo mutations (DNMs) in 13 genes. We identified a potential novel risk gene ( Conclusions: We identify new risk genes and transmission of deleterious mutations in genes primarily associated with DNMs. The fact that parental carriers show milder phenotypes and patients with multiple hits are more severe supports a multifactorial model of risk.
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Registered trials
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