Evidence map›Paper›PMID 33590427›Full record

ArticleJournal of autism and developmental disorders2021

Comprehensive Genetic Analysis of Non-syndromic Autism Spectrum Disorder in Clinical Settings.

Kei Ohashi, Satomi Fukuhara, Taishi Miyachi, Tomoko Asai, Masayuki Imaeda, Masahide Goto, Yoshie Kurokawa, Tatsuya Anzai, Yoshinori Tsurusaki, Noriko Miyake and 3 more

Abstract read
PubMed Publisher
In one paragraph

Article in Journal of autism and developmental disorders, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 5 papers.

0numbers the graph read from it
0cells of the map it votes in
5citing papers in PubMed
1.1field-weighted citation impact, top 27% 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

5 citing papers in PubMed, 10 citations in OpenAlex.

  1. Article
  2. Article
  3. Article
  4. Case report: FOXP1 syndrome caused by aFrontiers in genetics · 2022
    Article
  5. Article
4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

13 authors at 3 institutions in 1 country.

Kei OhashiDepartment of Pediatrics and Neonatology, Graduate School of Medical Sciences, Nagoya City University, Nagoya, Japan.
Satomi FukuharaDepartment of Pediatrics and Neonatology, Graduate School of Medical Sciences, Nagoya City University, Nagoya, Japan.
Taishi MiyachiDepartment of Pediatrics and Neonatology, Graduate School of Medical Sciences, Nagoya City University, Nagoya, Japan.
Tomoko AsaiDepartment of Pediatrics and Neonatology, Graduate School of Medical Sciences, Nagoya City University, Nagoya, Japan.
Masayuki ImaedaDepartment of Pediatrics and Neonatology, Graduate School of Medical Sciences, Nagoya City University, Nagoya, Japan.
Masahide GotoDepartment of Pediatrics, Jichi Medical University, Tochigi, Japan.
Yoshie KurokawaDepartment of Pediatrics, Jichi Medical University, Tochigi, Japan.
Tatsuya AnzaiDepartment of Pediatrics, Jichi Medical University, Tochigi, Japan.
Yoshinori TsurusakiDepartment of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Japan.
Noriko MiyakeDepartment of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Japan.
Naomichi MatsumotoDepartment of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Japan.
Takanori YamagataDepartment of Pediatrics, Jichi Medical University, Tochigi, Japan.
Shinji SaitohDepartment of Pediatrics and Neonatology, Graduate School of Medical Sciences, Nagoya City University, Nagoya, Japan. ss11@med.nagoya-cu.ac.jp.ORCID http://orcid.org/0000-0001-6911-3351
Nagoya City University · JPJichi Medical University · JPYokohama City University · JP

Funding

Japan Agency for Medical Research and Development JP19dm0107090Japan Agency for Medical Research and Development JP19ek0109280
6 · The paper itself

Abstract

Although genetic factors are involved in the etiology of autism spectrum disorder (ASD), the significance of genetic analysis in clinical settings is unclear. Forty-nine subjects diagnosed with non-syndromic ASD were analyzed by microarray comparative genomic hybridization (CGH) analysis, whole-exome sequencing (WES) analysis, and panel sequencing analysis for 52 common causative genes of ASD to detect inherited rare variants. Genetic analysis by microarray CGH and WES analyses showed conclusive results in about 10% of patients, however, many inherited variants detected by panel sequencing analysis were difficult to interpret and apply in clinical practice in the majority of patients. Further improvement of interpretation of many variants detected would be necessary for combined genetic tests to be used in clinical settings.

Indexed as

Autism Spectrum DisorderComparative Genomic HybridizationDNA Copy Number VariationsGenetic Predisposition to DiseaseGenetic TestingGenomicsHumansAutism spectrum disorderGenetic analysisMicroarray comparative genomic hybridizationWhole-exome sequencing

Identifiers

PMID33590427
OpenAlexW3130603952

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.