Evidence map›Paper›PMID 35518571›Full record

ArticleNeurology. Genetics2022

Biallelic

Tanja Višnjar, Aleš Maver, Karin Writzl, Ornela Maloku, Gaber Bergant, Helena Jaklič, David Neubauer, Federico Fogolari, Nuška Pečarič Meglič, Borut Peterlin

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

Article in Neurology. Genetics, 2022. 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
1.1field-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

4 citing papers in PubMed, 4 citations in OpenAlex.

  1. Article
  2. Article
  3. Science advances · 2023
    Article
  4. Cerebellar development after preterm birth.Frontiers in cell and developmental biology · 2022
    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

10 authors at 1 institution in 1 country.

Tanja VišnjarClinical Institute of Genomic Medicine (T.V., A.M., K.W., G.B., H.J., B.P.), University Medical Centre Ljubljana, Slovenia; Medical Faculty (K.W., D.N.), University of Ljubljana, Slovenia; Division of Paediatrics (D.N.), Department of Child, Adolescent & Developmental Neurology, University Medical Centre Ljubljana, Slovenia; Clinical Institute of Radiology (N.P.M.), University Medical Centre Ljubljana, Slovenia; and Department of Mathematics (O.M., F.F.), Informatics and Physics, University of Udine, Italy.
Aleš MaverClinical Institute of Genomic Medicine (T.V., A.M., K.W., G.B., H.J., B.P.), University Medical Centre Ljubljana, Slovenia; Medical Faculty (K.W., D.N.), University of Ljubljana, Slovenia; Division of Paediatrics (D.N.), Department of Child, Adolescent & Developmental Neurology, University Medical Centre Ljubljana, Slovenia; Clinical Institute of Radiology (N.P.M.), University Medical Centre Ljubljana, Slovenia; and Department of Mathematics (O.M., F.F.), Informatics and Physics, University of Udine, Italy.
Karin WritzlClinical Institute of Genomic Medicine (T.V., A.M., K.W., G.B., H.J., B.P.), University Medical Centre Ljubljana, Slovenia; Medical Faculty (K.W., D.N.), University of Ljubljana, Slovenia; Division of Paediatrics (D.N.), Department of Child, Adolescent & Developmental Neurology, University Medical Centre Ljubljana, Slovenia; Clinical Institute of Radiology (N.P.M.), University Medical Centre Ljubljana, Slovenia; and Department of Mathematics (O.M., F.F.), Informatics and Physics, University of Udine, Italy.
Ornela MalokuClinical Institute of Genomic Medicine (T.V., A.M., K.W., G.B., H.J., B.P.), University Medical Centre Ljubljana, Slovenia; Medical Faculty (K.W., D.N.), University of Ljubljana, Slovenia; Division of Paediatrics (D.N.), Department of Child, Adolescent & Developmental Neurology, University Medical Centre Ljubljana, Slovenia; Clinical Institute of Radiology (N.P.M.), University Medical Centre Ljubljana, Slovenia; and Department of Mathematics (O.M., F.F.), Informatics and Physics, University of Udine, Italy.
Gaber BergantClinical Institute of Genomic Medicine (T.V., A.M., K.W., G.B., H.J., B.P.), University Medical Centre Ljubljana, Slovenia; Medical Faculty (K.W., D.N.), University of Ljubljana, Slovenia; Division of Paediatrics (D.N.), Department of Child, Adolescent & Developmental Neurology, University Medical Centre Ljubljana, Slovenia; Clinical Institute of Radiology (N.P.M.), University Medical Centre Ljubljana, Slovenia; and Department of Mathematics (O.M., F.F.), Informatics and Physics, University of Udine, Italy.
Helena JakličClinical Institute of Genomic Medicine (T.V., A.M., K.W., G.B., H.J., B.P.), University Medical Centre Ljubljana, Slovenia; Medical Faculty (K.W., D.N.), University of Ljubljana, Slovenia; Division of Paediatrics (D.N.), Department of Child, Adolescent & Developmental Neurology, University Medical Centre Ljubljana, Slovenia; Clinical Institute of Radiology (N.P.M.), University Medical Centre Ljubljana, Slovenia; and Department of Mathematics (O.M., F.F.), Informatics and Physics, University of Udine, Italy.
David NeubauerClinical Institute of Genomic Medicine (T.V., A.M., K.W., G.B., H.J., B.P.), University Medical Centre Ljubljana, Slovenia; Medical Faculty (K.W., D.N.), University of Ljubljana, Slovenia; Division of Paediatrics (D.N.), Department of Child, Adolescent & Developmental Neurology, University Medical Centre Ljubljana, Slovenia; Clinical Institute of Radiology (N.P.M.), University Medical Centre Ljubljana, Slovenia; and Department of Mathematics (O.M., F.F.), Informatics and Physics, University of Udine, Italy.
Federico FogolariClinical Institute of Genomic Medicine (T.V., A.M., K.W., G.B., H.J., B.P.), University Medical Centre Ljubljana, Slovenia; Medical Faculty (K.W., D.N.), University of Ljubljana, Slovenia; Division of Paediatrics (D.N.), Department of Child, Adolescent & Developmental Neurology, University Medical Centre Ljubljana, Slovenia; Clinical Institute of Radiology (N.P.M.), University Medical Centre Ljubljana, Slovenia; and Department of Mathematics (O.M., F.F.), Informatics and Physics, University of Udine, Italy.
Nuška Pečarič MegličClinical Institute of Genomic Medicine (T.V., A.M., K.W., G.B., H.J., B.P.), University Medical Centre Ljubljana, Slovenia; Medical Faculty (K.W., D.N.), University of Ljubljana, Slovenia; Division of Paediatrics (D.N.), Department of Child, Adolescent & Developmental Neurology, University Medical Centre Ljubljana, Slovenia; Clinical Institute of Radiology (N.P.M.), University Medical Centre Ljubljana, Slovenia; and Department of Mathematics (O.M., F.F.), Informatics and Physics, University of Udine, Italy.
Borut PeterlinClinical Institute of Genomic Medicine (T.V., A.M., K.W., G.B., H.J., B.P.), University Medical Centre Ljubljana, Slovenia; Medical Faculty (K.W., D.N.), University of Ljubljana, Slovenia; Division of Paediatrics (D.N.), Department of Child, Adolescent & Developmental Neurology, University Medical Centre Ljubljana, Slovenia; Clinical Institute of Radiology (N.P.M.), University Medical Centre Ljubljana, Slovenia; and Department of Mathematics (O.M., F.F.), Informatics and Physics, University of Udine, Italy.
Ljubljana University Medical Centre · SI

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Background and Objectives: To report on the novel association of biallelic variant in atonal basic helix-loop-helix transcription factor 1 ( Methods: A detailed clinical assessment and exome sequencing of peripheral blood sample were performed. Segregation analysis with Sanger sequencing and structural modeling of the variant was performed to support the pathogenicity of the variant. Results: A homozygous missense variant (NM_005172.1:c.481C>G) in the Discussion: Based on the sequencing results and evidence from structural modeling of the identified variant, as well as with previous reports of

Identifiers

PMID35518571
PMCPMC9067583
OpenAlexW4225377978

What OpenQuestion holds

Textmetadata
LicenceCC BY-NC-ND
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.