Evidence map›Paper›PMID 33193692›Full record

ArticleFrontiers in genetics2020

Novel Compound Heterozygous Variants in

Minna Luo, Ruida He, Zaisheng Lin, Yue Shen, Guangyu Zhang, Zongfu Cao, Chao Lu, Dan Meng, Jing Zhang, Xu Ma and 1 more

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

Article in Frontiers in genetics, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 4 papers.

0numbers the graph read from it
0cells of the map it votes in
4citing papers in PubMed
0.7field-weighted citation impact, top 25% 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

4 citing papers in PubMed, 6 citations in OpenAlex.

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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

11 authors at 5 institutions in 1 country.

Minna LuoNational Research Institute for Family Planning, Beijing, China.
Ruida HeKey Laboratory of Cell Differentiation and Apoptosis of Chinese Ministry of Education, Department of Pathophysiology, Shanghai Jiao Tong University School of Medicine, Shanghai, China.
Zaisheng LinKey Laboratory of Cell Differentiation and Apoptosis of Chinese Ministry of Education, Department of Pathophysiology, Shanghai Jiao Tong University School of Medicine, Shanghai, China.
Yue ShenNational Research Institute for Family Planning, Beijing, China.
Guangyu ZhangDepartment of Children Rehabilitation, The Third Affiliated Hospital of Zhengzhou University, Zhengzhou, China.
Zongfu CaoNational Research Institute for Family Planning, Beijing, China.
Chao LuNational Research Institute for Family Planning, Beijing, China.
Dan MengTianjin Key Laboratory of Food and Biotechnology, School of Biotechnology and Food Science, Tianjin University of Commerce, Tianjin, China.
Jing ZhangKey Laboratory of Cell Differentiation and Apoptosis of Chinese Ministry of Education, Department of Pathophysiology, Shanghai Jiao Tong University School of Medicine, Shanghai, China.
Xu MaNational Research Institute for Family Planning, Beijing, China.
Muqing CaoKey Laboratory of Cell Differentiation and Apoptosis of Chinese Ministry of Education, Department of Pathophysiology, Shanghai Jiao Tong University School of Medicine, Shanghai, China.
Shanghai Jiao Tong University · CNChinese National Human Genome Center · CNTianjin Municipal Research Institute for Family Planning · CNThird Affiliated Hospital of Zhengzhou University · CNTianjin University of Commerce · CN

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Joubert syndrome (JBTS) and Meckel-Gruber syndrome (MKS) are rare recessive disorders caused by defects of cilia, and they share overlapping clinical features and allelic loci. Mutations of

Indexed as

B9 proteinsciliaciliopathyJoubert syndromeMKS1

Identifiers

PMID33193692
PMCPMC7592398
OpenAlexW3093247492

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.