ReviewCritical reviews in clinical laboratory sciences2014
Genetic diagnosis of autism spectrum disorders: the opportunity and challenge in the genomics era.
Review in Critical reviews in clinical laboratory sciences, 2014. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 20 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
20 citing papers in PubMed, 1 synthesis or guideline pooled it.
- Unsolved challenges of clinical whole-exome sequencing: a systematic literature review of end-users' views.BMC medical genomics · 2016Pooled it
- Integrative multi-omics reveals microbial genomic variants driving altered host-microbe interactions in autism spectrum disorder.Cell reports. Medicine · 2026Article
- Molecular switch of the dendrite-to-spine transport of TDP-43/FMRP-bound neuronal mRNAs and its impairment in ASD.Cellular & molecular biology letters · 2025Article
- Decoding the genetic landscape of autism: A comprehensive review.World journal of clinical pediatrics · 2024Article
- Novel protein-truncating variants of a chromatin-modifying gene MSL2 in syndromic neurodevelopmental disorders.European journal of human genetics : EJHG · 2024Article
- Correlating Neuroimaging and CNVs Data: 7 Years of Cytogenomic Microarray Analysis on Patients Affected by Neurodevelopmental Disorders.Journal of pediatric genetics · 2021Article
- Comparative analysis of the autism‑related variants between different autistic children in a family pedigree.Molecular medicine reports · 2021Article
- Psychometric Properties of the POAGTS: A Tool for Understanding Parents' Perceptions Regarding Autism Spectrum Disorder Genetic Testing.International journal of environmental research and public health · 2021Article
- Autism Spectrum Disorders: Prenatal Genetic Testing and Abortion Decision-Making among Taiwanese Mothers of Affected Children.International journal of environmental research and public health · 2020Article
- Genetics and genetic counseling in psychiatry: Results from an opinion survey of professionals and users.Molecular genetics & genomic medicine · 2019Article
- mTOR signalling pathway - A root cause for idiopathic autism?BMB reports · 2019Review
- DNA Methylation and Susceptibility to Autism Spectrum Disorder.Annual review of medicine · 2019Review
- The Clinical and Genetic Features of Co-occurring Epilepsy and Autism Spectrum Disorder in Chinese Children.Frontiers in neurology · 2019Article
- Biomarkers in Autism Spectrum Disorder: Challenges, Advances, and the Need for Biomarkers of Relevance to Public Health.Focus (American Psychiatric Publishing) · 2018Review
- Serologic Markers of Autism Spectrum Disorder.Journal of molecular neuroscience : MN · 2017Review
- Investigating the Receptive-Expressive Vocabulary Profile in Children with Idiopathic ASD and Comorbid ASD and Fragile X Syndrome.Journal of autism and developmental disorders · 2017Article
- Attitudes Toward Autism Spectrum Disorders Among Students of Allied Health Professions.Journal of genetic counseling · 2016Article
- Integrating precision cancer medicine into healthcare-policy, practice, and research challenges.Genome medicine · 2016Article
- Whole Genome Sequencing as a Genetic Test for Autism Spectrum Disorder: From Bench to Bedside and then Back Again.Journal of the Canadian Academy of Child and Adolescent Psychiatry = Journal de l'Academie canadienne de psychiatrie de l'enfant et de l'adolescent · 2016Article
- Genetics of Autism Spectrum Disorder: Current Status and Possible Clinical Applications.Experimental neurobiology · 2015Review
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
6 authors.
Funding
Abstract
A genetic etiology for autism spectrum disorders (ASDs) was first suggested from twin studies reported in the 1970s. The identification of gene mutations in syndromic ASDs provided evidence to support a genetic cause of ASDs. More recently, genome-wide copy number variant and sequence analyses have uncovered a list of rare and highly penetrant copy number variants (CNVs) or single nucleotide variants (SNVs) associated with ASDs, which has strengthened the claim of a genetic etiology for ASDs. Findings from research studies in the genetics of ASD now support an important role for molecular diagnostics in the clinical genetics evaluation of ASDs. Various molecular diagnostic assays including single gene tests, targeted multiple gene panels and copy number analysis should all be considered in the clinical genetics evaluation of ASDs. Whole exome sequencing could also be considered in selected clinical cases. However, the challenge that remains is to determine the causal role of genetic variants identified through molecular testing. Variable expressivity, pleiotropic effects and incomplete penetrance associated with CNVs and SNVs also present significant challenges for genetic counseling and prenatal diagnosis.
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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.