Evidence map›Paper›PMID 37910852›Full record

ArticleThe Journal of international medical research2023

A case of Joubert syndrome caused by novel compound heterozygous variants in the

Anastasiya Aleksandrovna Kozina, Guria Kurbanovna Kanaeva, Natalia Vladimirovna Baryshnikova, Anna Yurievna Ilinskaya, Anna Alexandrovna Kim, Anastasia Vladimirovna Erofeeva, Nadezhda Andreevna Pogodina, Jamilya Payzutdinova Gadzhiyeva, Ekaterina Ivanovna Surkova, Valery Vladimirovich Ilinsky

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In one paragraph

Article in The Journal of international medical research, 2023. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 1 paper.

0numbers the graph read from it
0cells of the map it votes in
1citing papers in PubMed
0.6field-weighted citation impact, top 22% 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

1 citing paper in PubMed, 2 citations in OpenAlex.

  1. 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 3 institutions in 1 country.

Anastasiya Aleksandrovna KozinaDepartment of Medical Genomics Group, Institute of Biomedical Chemistry, Moscow, Russia.
Guria Kurbanovna KanaevaMedical Center Unity, Makhachkala, Russia.
Natalia Vladimirovna BaryshnikovaDepartment of General and Medical Genetics, Pirogov Russian National Research Medical University, Moscow, Russia.
Anna Yurievna IlinskayaResearch Department, Eligens SIA, Marupes, Latvia.
Anna Alexandrovna KimDepartment of Science, Genotek Ltd., Moscow, Russia.
Anastasia Vladimirovna ErofeevaDepartment of Science, Genotek Ltd., Moscow, Russia.
Nadezhda Andreevna PogodinaDepartment of Science, Genotek Ltd., Moscow, Russia.
Jamilya Payzutdinova GadzhiyevaMedical Center Unity, Makhachkala, Russia.
Ekaterina Ivanovna SurkovaDepartment of Science, Genotek Ltd., Moscow, Russia.ORCID 0000-0002-9414-4202
Valery Vladimirovich IlinskyResearch Department, Eligens SIA, Marupes, Latvia.
Dagestan Scientific Center of the Russian Academy of Sciences · RUInstitute of Biomedical Chemistry · RUPirogov Russian National Research Medical University · RU

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Joubert syndrome (JS) is a recessive disorder that is characterized by midbrain-hindbrain malformation and shows the "molar tooth sign" on magnetic resonance imaging. Mutations in 40 genes, including Abelson helper integration site 1 (

Indexed as

Abnormalities, MultipleEye AbnormalitiesKidney Diseases, CysticCerebellumChildGTP-Binding ProteinsHumansMembrane ProteinsMutationPhosphoinositide 5-PhosphatasesPhosphoric Monoester HydrolasesRetinaARL2 protein, humanGTP-Binding ProteinsMembrane ProteinsPhosphoinositide 5-PhosphatasesPhosphoric Monoester HydrolasesTMEM67 protein, humanciliopathydevelopmental delayJoubert syndromemolar tooth signmolecular diagnosistransmembrane protein 67 gene

Identifiers

PMID37910852
PMCPMC10621312
OpenAlexW4388123203

What OpenQuestion holds

Textmetadata
LicenceCC BY-NC
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.