Evidence map›Paper›PMID 31788251›Full record

ArticleClinical case reports2019

A case of autism spectrum disorder with cleft lip and palate carrying a mutation in exon 8 of

Saki Saeki, Takashi Enokizono, Kazuo Imagawa, Hiroko Fukushima, Daigo Kajikawa, Aiko Sakai, Mai Tanaka, Tatsuyuki Ohto, Hisato Suzuki, Tomoko Uehara and 3 more

Open access · goldAbstract readCase Reports
PubMed Full text at PMC Publisher
In one paragraph

Article in Clinical case reports, 2019. 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
0.9field-weighted citation impact, top 21% 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. Further Delineation of the AUTS2 HX Repeat Domain-Related Phenotype.American journal of medical genetics. Part A · 2025
    Article
  2. Review
  3. Review
  4. Comparing a Novel Malformation Syndrome Caused by Pathogenic Variants inFrontiers in cell and developmental biology · 2021
    Review
  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 2 institutions in 1 country.

Saki SaekiDepartment of Pediatrics, Faculty of Medicine University of Tsukuba Tsukuba Japan.ORCID https://orcid.org/0000-0002-5209-7815
Takashi EnokizonoDepartment of Pediatrics, Faculty of Medicine University of Tsukuba Tsukuba Japan.
Kazuo ImagawaDepartment of Pediatrics, Faculty of Medicine University of Tsukuba Tsukuba Japan.
Hiroko FukushimaDepartment of Pediatrics, Faculty of Medicine University of Tsukuba Tsukuba Japan.ORCID https://orcid.org/0000-0002-1290-3501
Daigo KajikawaDepartment of Pediatrics, Faculty of Medicine University of Tsukuba Tsukuba Japan.
Aiko SakaiDepartment of Pediatrics, Faculty of Medicine University of Tsukuba Tsukuba Japan.
Mai TanakaDepartment of Pediatrics, Faculty of Medicine University of Tsukuba Tsukuba Japan.
Tatsuyuki OhtoDepartment of Pediatrics, Faculty of Medicine University of Tsukuba Tsukuba Japan.
Hisato SuzukiCenter for Medical Genetics Keio University School of Medicine Tokyo Japan.ORCID https://orcid.org/0000-0002-8122-7180
Tomoko UeharaCenter for Medical Genetics Keio University School of Medicine Tokyo Japan.ORCID https://orcid.org/0000-0002-1497-7686
Toshiki TakenouchiCenter for Medical Genetics Keio University School of Medicine Tokyo Japan.ORCID https://orcid.org/0000-0002-7311-4135
Kosaki KenjiroCenter for Medical Genetics Keio University School of Medicine Tokyo Japan.
Hidetoshi TakadaDepartment of Pediatrics, Faculty of Medicine University of Tsukuba Tsukuba Japan.
University of Tsukuba · JPKeio University · JP

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

We report a patient with autism and cleft lip and palate carrying a de novo heterozygous

Indexed as

autism spectrum disorderAUTS2cleft lip and palateexon 8

Identifiers

PMID31788251
PMCPMC6878208
OpenAlexW2976173013

What OpenQuestion holds

Textmetadata
LicenceCC BY
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.