Evidence map›Paper›PMID 36038624›Full record

ReviewJournal of human genetics2023

Genetics of autism spectrum disorders and future direction.

Yuka Yasuda, Junya Matsumoto, Kenichiro Miura, Naomi Hasegawa, Ryota Hashimoto

Erratum issuedAbstract readReview
PubMed Publisher
In one paragraph

Review in Journal of human genetics, 2023. The graph could read no effect estimate from its abstract, so it casts no vote on the map. An erratum has been issued. Cited by 25 papers, 2 of them syntheses that pooled it.

0numbers the graph read from it
0cells of the map it votes in
25citing papers in PubMed, 2 pooled it
6.1field-weighted citation impact, top 3% of its field
1 · What the graph read from 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.

2 · The registry

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.

3 · Its place in the literature

Who cites it

25 citing papers in PubMed, 2 syntheses or guidelines pooled it, 46 citations in OpenAlex.

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4 · The record

Corrections and comments

5 · Who and what money

Authors and funding

5 authors at 2 institutions in 1 country.

Yuka YasudaLife Grow Blliliant Mental Clinic, Medical Corporation Foster, Osaka, Japan. yukayasuda.yy@gmail.com.
Junya MatsumotoDepartment of Pathology of Mental Diseases, National Institute of Mental Health, National Center of Neurology and Psychiatry, Kodaira, Japan.ORCID http://orcid.org/0000-0003-4228-3208
Kenichiro MiuraDepartment of Pathology of Mental Diseases, National Institute of Mental Health, National Center of Neurology and Psychiatry, Kodaira, Japan.
Naomi HasegawaDepartment of Pathology of Mental Diseases, National Institute of Mental Health, National Center of Neurology and Psychiatry, Kodaira, Japan.
Ryota HashimotoDepartment of Pathology of Mental Diseases, National Institute of Mental Health, National Center of Neurology and Psychiatry, Kodaira, Japan.ORCID http://orcid.org/0000-0002-5941-4238
National Center of Neurology and Psychiatry · JPObayashi (Japan) · JP

Funding

Japan Agency for Medical Research and Development (AMED) 21uk1024002Japan Agency for Medical Research and Development (AMED) JP18dm0307002Japan Agency for Medical Research and Development (AMED) JP21dm0207069Japan Agency for Medical Research and Development (AMED) JP21uk1024002Japan Agency for Medical Research and Development (AMED) JP21wm0425012MEXT | Japan Society for the Promotion of Science (JSPS) JP20K06920MEXT | Japan Society for the Promotion of Science (JSPS) JP21uk1024002
6 · The paper itself

Abstract

Autism spectrum disorders (ASDs) have been increasing in prevalence. ASD is a complex human genetic disorder with high heredity and involves interactions between genes and the environment. A significant inheritance pattern in ASD involves a rare genetic mutation; common copy number variants refer to duplication or deletion of stretches of chromosomal loci or protein-disrupting single-nucleotide variants. Haploinsufficiency is one of the more common single-gene causes of ASD, explaining at least 0.5% of cases. Epigenetic mechanisms, such as DNA methylation, act at an interface of genetic and environmental risk and protective factors. Advances in genome-wide sequencing have broadened the view of the human methylome and have revealed the organization of the human genome into large-scale methylation domains with a footprint over neurologically important genes involved in embryonic development. Psychiatric disorders, including ASD, are expected to be diagnosed based on their genetically regulated pathophysiology and to be linked to their treatment.

Indexed as

Autism Spectrum DisorderDNA Copy Number VariationsDNA MethylationEpigenesis, GeneticFemaleGenetic Predisposition to DiseaseGenome, HumanHumansMutationPregnancy

Identifiers

PMID36038624
OpenAlexW4293731046

What OpenQuestion holds

Textmetadata
Read underepoch 390

Registered trials

None linked

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.