Evidence map›Paper›PMID 35935366›Full record

ArticleFrontiers in pediatrics2022

The extended clinical and genetic spectrum of

Seungbok Lee, Se Song Jang, Soojin Park, Jihoon G Yoon, Soo Yeon Kim, Byung Chan Lim, Jong Hee Chae

Open access · goldAbstract read
In one paragraph

Article in Frontiers in pediatrics, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 11 papers, 1 of them a synthesis that pooled it.

0numbers the graph read from it
0cells of the map it votes in
11citing papers in PubMed, 1 pooled it
3.2field-weighted citation impact, top 8% 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

11 citing papers in PubMed, 1 synthesis or guideline pooled it, 17 citations in OpenAlex.

  1. Pooled it
  2. Article
  3. Article
  4. Article
  5. Article
  6. Case report: Discovery of novelFrontiers in genetics · 2025
    Article
  7. Article
  8. Article
  9. Alopecia areata-like pattern of baldness: the most recent update and the expansion of novel phenotype and genotype in the CTNNB1 gene.Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology · 2023
    Article
  10. Frontiers in pediatrics · 2023
    Article
  11. CTNNB1 in neurodevelopmental disorders.Frontiers in psychiatry · 2023
    Review
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

7 authors at 2 institutions in 1 country.

Seungbok LeeDepartment of Genomic Medicine, Seoul National University Hospital, Seoul, South Korea.
Se Song JangDepartment of Pediatrics, Seoul National University College of Medicine, Seoul National University Children's Hospital, Seoul, South Korea.
Soojin ParkDepartment of Pediatrics, Seoul National University College of Medicine, Seoul National University Children's Hospital, Seoul, South Korea.
Jihoon G YoonDepartment of Genomic Medicine, Seoul National University Hospital, Seoul, South Korea.
Soo Yeon KimDepartment of Genomic Medicine, Seoul National University Hospital, Seoul, South Korea.
Byung Chan LimDepartment of Pediatrics, Seoul National University College of Medicine, Seoul National University Children's Hospital, Seoul, South Korea.
Jong Hee ChaeDepartment of Genomic Medicine, Seoul National University Hospital, Seoul, South Korea.
Seoul National University Children's Hospital · KRSeoul National University Hospital · KR

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Purpose: Loss-of-function mutations of Methods: We enrolled 13 Korean patients with Results: We identified 11 Conclusion: This is one of the largest single-center cohorts of

Indexed as

autism spectrum disorderCTNNB1exudative vitreoretinopathy 7neurodevelopmental disorder with spastic diplegia and visual defectsRett-like phenotypeβ-catenin

Identifiers

PMID35935366
PMCPMC9353113
OpenAlexW4286447849

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.