Evidence map›Paper›PMID 36704348›Full record

ArticleFrontiers in genetics2022

A novel non-sense variant in the OFD1 gene caused Joubert syndrome.

Chen Li, Xingwang Wang, Fake Li, Hongke Ding, Ling Liu, Ying Xiong, Chaoxiang Yang, Yan Zhang, Jing Wu, Aihua Yin

Open access · goldAbstract read
In one paragraph

Article in Frontiers in genetics, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 3 papers.

0numbers the graph read from it
0cells of the map it votes in
3citing papers in PubMed
1.3field-weighted citation impact, top 18% 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

3 citing papers in PubMed, 4 citations in OpenAlex.

  1. A Novel Pathogenic Splicing Mutation ofPharmacogenomics and personalized medicine · 2025
    Article
  2. Article
  3. 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

10 authors at 2 institutions in 1 country.

Chen LiMedical Genetic Center, Guangdong Women and Children Hospital, Guangzhou, China.
Xingwang WangMedical Genetic Center, Guangdong Women and Children Hospital, Guangzhou, China.
Fake LiMedical Genetic Center, Guangdong Women and Children Hospital, Guangzhou, China.
Hongke DingMedical Genetic Center, Guangdong Women and Children Hospital, Guangzhou, China.
Ling LiuMedical Genetic Center, Guangdong Women and Children Hospital, Guangzhou, China.
Ying XiongMedical Genetic Center, Guangdong Women and Children Hospital, Guangzhou, China.
Chaoxiang YangMedical Imaging Department, Guangdong Women and Children Hospital, Guangzhou, China.
Yan ZhangMedical Genetic Center, Guangdong Women and Children Hospital, Guangzhou, China.
Jing WuMedical Genetic Center, Guangdong Women and Children Hospital, Guangzhou, China.
Aihua YinMedical Genetic Center, Guangdong Women and Children Hospital, Guangzhou, China.
Guangdong Province Women and Children Hospital · CNUnited Imaging Healthcare (China) · CN

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

PubMed holds no abstract for this paper.

Indexed as

Joubert syndromeMRInovel non-sense variantOFD1RNA-seqwhole exome sequencing (WES)

Identifiers

PMID36704348
PMCPMC9871390
OpenAlexW4315489645

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.