Evidence map›Paper›PMID 33105646›Full record

ArticleGenes2020

Identification of a Novel

Olga Mironovich, Elena Dadali, Sergey Malmberg, Tatyana Markova, Oxana Ryzhkova, Aleksander Poliakov

Open access · goldAbstract readCase Reports
In one paragraph

Article in Genes, 2020. 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
0.7field-weighted citation impact, top 35% 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, 8 citations in OpenAlex.

  1. Complex Diagnostics of Non-Specific Intellectual Developmental Disorder.International journal of molecular sciences · 2022
    Article
  2. Expanding the genotype and phenotype spectrum of SYT1-associated neurodevelopmental disorder.Genetics in medicine : official journal of the American College of Medical Genetics · 2022
    Article
  3. Function of Drosophila Synaptotagmins in membrane trafficking at synapses.Cellular and molecular life sciences : CMLS · 2021
    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

6 authors at 2 institutions in 1 country.

Olga MironovichFederal State Budgetary Institution "Research Centre For Medical Genetics", Moscow 115478, Russia.ORCID 0000-0003-0351-1271
Elena DadaliFederal State Budgetary Institution "Research Centre For Medical Genetics", Moscow 115478, Russia.
Sergey MalmbergFederal State Budget Healthcare Institution "Central Children Clinical Hospital" at FMBA of Russia, Moscow 115409, Russia.
Tatyana MarkovaFederal State Budgetary Institution "Research Centre For Medical Genetics", Moscow 115478, Russia.
Oxana RyzhkovaFederal State Budgetary Institution "Research Centre For Medical Genetics", Moscow 115478, Russia.
Aleksander PoliakovFederal State Budgetary Institution "Research Centre For Medical Genetics", Moscow 115478, Russia.
Research Centre for Medical Genetics · RURussian Children's Clinical Hospital · RU

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

objectiveTo report the first

methodsGenetic testing was carried out, including clinical exome sequencing for the proband and Sanger sequencing for the proband and his parents. We described the clinical and electrophysiological features found in the patient.

resultsWe reported a proband with a new

conclusionsIn this study we reinforced the association between

Indexed as

ChildElectrophysiologyExomeExome SequencingGenetic Predisposition to DiseaseGenetic TestingHumansMaleMuscular Atrophy, SpinalMutation, MissensePedigreeSynaptotagmin IISynaptotagmin IISYT2 protein, humanelectrophysiological testingfirst de novo mutationhereditary motor neuropathySYT2 mutation

Identifiers

PMID33105646
PMCPMC7690400
OpenAlexW3093959999

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.