ArticleAutism research : official journal of the International Society for Autism Research2017
Next Generation Sequencing Mitochondrial DNA Analysis in Autism Spectrum Disorder.
Article in Autism research : official journal of the International Society for Autism Research, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 17 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
17 citing papers in PubMed, 45 citations in OpenAlex.
- Association of placental mitochondrial DNA mutations on infant negative affectivity: modifying effects of maternal lifetime stress and infant sex.Biology of sex differences · 2025Article
- Crosstalk Between Mitochondrial DNA and Immune Response: Focus on Autism Spectrum Disorder.Molecular neurobiology · 2025Review
- Haplogroup Structure and Genetic Variation Analyses of Mitochondrial Genome SNPs in the Iranian Population.Archives of Iranian medicine · 2025Article
- The mitochondrial genome as a modifier of autism versus cancer phenotypes inHGG advances · 2023Article
- Evidence for parent-of-origin effects in autism spectrum disorder: a narrative review.Journal of applied genetics · 2023Review
- Maternal Inflammation During Pregnancy and Offspring Brain Development: The Role of Mitochondria.Biological psychiatry. Cognitive neuroscience and neuroimaging · 2022Review
- Dissecting the multifaceted contribution of the mitochondrial genome to autism spectrum disorder.Frontiers in genetics · 2022Article
- A benchmarking of human mitochondrial DNA haplogroup classifiers from whole-genome and whole-exome sequence data.Scientific reports · 2021Article
- Dysfunction in Mitochondrial Electron Transport Chain Complex I, Pyruvate Dehydrogenase Activity, and Mutations in ND1 and ND4 Gene in Autism Spectrum Disorder Subjects from Tamil Nadu Population, India.Molecular neurobiology · 2021Article
- Associations Between Maternal Lifetime Stress and Placental Mitochondrial DNA Mutations in an Urban Multiethnic Cohort.Biological psychiatry · 2021Article
- Autism spectrum disorder: A mitochondrial disorder.Iranian journal of child neurology · 2021Article
- Delineation of Mitochondrial DNA Variants From Exome Sequencing Data and Association of Haplogroups With Obesity in Kuwait.Frontiers in genetics · 2021Article
- The Mitochondrial Dysfunction Hypothesis in Autism Spectrum Disorders: Current Status and Future Perspectives.International journal of molecular sciences · 2020Review
- "Mitochondrial Toolbox" - A Review of Online Resources to Explore Mitochondrial Genomics.Frontiers in genetics · 2020Review
- Diagnostic and Severity-Tracking Biomarkers for Autism Spectrum Disorder.Journal of molecular neuroscience : MN · 2018Review
- Clinical and Molecular Characteristics of Mitochondrial Dysfunction in Autism Spectrum Disorder.Molecular diagnosis & therapy · 2018Review
- Bioinformatics Tools and Databases to Assess the Pathogenicity of Mitochondrial DNA Variants in the Field of Next Generation Sequencing.Frontiers in genetics · 2018Review
Corrections and comments
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Authors and funding
5 authors at 1 institution in 1 country.
Funding
Abstract
Autism is a complex genetic disorder where both de-novo and inherited genetics factors play a role. Next generation sequencing approaches have been extensively used to identify rare variants associated with autism. To date, all such studies were focused on nuclear genome; thereby leaving the role of mitochondrial DNA (mtDNA) variation in autism unexplored. Recently, analytical tools have been developed to evaluate mtDNA in whole-exome data. We have analyzed the mtDNA sequence derived from whole-exome sequencing in 10 multiplex families. In one of the families we have identified two variants of interest in MT-ND5 gene that were previously determined to impair mitochondrial function. In addition in a second family we have identified two VOIs; mtDNA variant in MT-ATP6 and nuclear DNA variant in NDUFS4, where both VOIs are within mitochondrial Respiratory Chain Complex. Our findings provide further support for the role of mitochondria in ASD and confirm that whole-exome sequencing allows for analysis of mtDNA, which sets a stage for further comprehensive genetic investigations of the role of mitochondria in autism. Autism Res 2017, 10: 1338-1343. © 2017 International Society for Autism Research, Wiley Periodicals, Inc.
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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.