Evidence map›Paper›PMID 33930262›Full record

ArticleJournal of mother and child2021

The

Mateusz Dawidziuk, Anna Kutkowska-Kaźmierczak, Paweł Gawliński, Wojciech Wiszniewski, Monika Gos, Piotr Stawiński, Małgorzata Rydzanicz, Joanna Kosińska, Paweł Własienko, Olga Malinowska Kordowska and 7 more

Abstract readCase Reports
PubMed Full text at PMC Publisher
In one paragraph

Article in Journal of mother and child, 2021. 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
–field-weighted citation impact
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.

  1. Review
  2. Article
  3. Cold Spring Harbor molecular case studies · 2022
    Article
  4. 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

17 authors.

Mateusz DawidziukDepartment of Medical Genetics, Institute of Mother and Child, 17a Kasprzaka Street, 01-211 Warsaw, Poland.ORCID https://orcid.org/0000-0001-5102-8722
Anna Kutkowska-KaźmierczakDepartment of Medical Genetics, Institute of Mother and Child, 17a Kasprzaka Street, 01-211 Warsaw, Poland.ORCID https://orcid.org/0000-0001-5295-7363
Paweł GawlińskiDepartment of Medical Genetics, Institute of Mother and Child, 17a Kasprzaka Street, 01-211 Warsaw, Poland.ORCID https://orcid.org/0000-0002-3672-5834
Wojciech WiszniewskiDepartment of Medical Genetics, Institute of Mother and Child, 17a Kasprzaka Street, 01-211 Warsaw, Poland.ORCID https://orcid.org/0000-0002-1792-5152
Monika GosDepartment of Medical Genetics, Institute of Mother and Child, 17a Kasprzaka Street, 01-211 Warsaw, Poland.ORCID https://orcid.org/0000-0002-5475-0582
Piotr StawińskiDepartment of Medical Genetics, Medical University of Warsaw, 3c Pawińskiego Street, 02-106 Warsaw, Poland.ORCID https://orcid.org/0000-0001-7113-4434
Małgorzata RydzaniczDepartment of Medical Genetics, Medical University of Warsaw, 3c Pawińskiego Street, 02-106 Warsaw, Poland.ORCID https://orcid.org/0000-0002-6969-0535
Joanna KosińskaDepartment of Medical Genetics, Medical University of Warsaw, 3c Pawińskiego Street, 02-106 Warsaw, Poland.ORCID https://orcid.org/0000-0003-3767-6584
Paweł WłasienkoDepartment of Medical Genetics, Institute of Mother and Child, 17a Kasprzaka Street, 01-211 Warsaw, Poland.ORCID https://orcid.org/0000-0003-1037-4404
Olga Malinowska KordowskaDepartment of Medical Genetics, Institute of Mother and Child, 17a Kasprzaka Street, 01-211 Warsaw, Poland.ORCID https://orcid.org/0000-0001-5745-2591
Magdalena Bartnik-GłaskaDepartment of Medical Genetics, Institute of Mother and Child, 17a Kasprzaka Street, 01-211 Warsaw, Poland.ORCID https://orcid.org/0000-0002-9533-3494
Joanna BernaciakDepartment of Medical Genetics, Institute of Mother and Child, 17a Kasprzaka Street, 01-211 Warsaw, Poland.ORCID https://orcid.org/0000-0001-9892-580X
Krzysztof SzczałubaDepartment of Medical Genetics, Medical University of Warsaw, 3c Pawińskiego Street, 02-106 Warsaw, Poland.ORCID https://orcid.org/0000-0001-8803-646X
Monika Bekiesińska-FigatowskaDepartment of Diagnostic Imaging, Institute of Mother and Child, 17a Kasprzaka Street, 01-211 Warsaw, Poland.ORCID https://orcid.org/0000-0003-1787-3425
Rafał PłoskiDepartment of Medical Genetics, Medical University of Warsaw, 3c Pawińskiego Street, 02-106 Warsaw, Poland.ORCID https://orcid.org/0000-0001-6286-5526
Jerzy BalDepartment of Medical Genetics, Institute of Mother and Child, 17a Kasprzaka Street, 01-211 Warsaw, Poland.ORCID https://orcid.org/0000-0001-7638-5128
Sylwia Olimpia Rzońca-NiewczasDepartment of Medical Genetics, Institute of Mother and Child, 17a Kasprzaka Street, 01-211 Warsaw, Poland.ORCID https://orcid.org/0000-0002-7372-2472

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

The Mediator complex subunit 13-like is a part of the large Mediator complex. Recently, a large number of patients were diagnosed with mutations in this gene, which makes it one of the most frequent causes of syndromic intellectual disability. In this work, we report a patient with a novel

Indexed as

HaploinsufficiencyLoss of Function MutationAbnormalities, MultipleChildGenetic VariationHumansIntellectual DisabilityMaleMediator ComplexMutationPhenotypeMediator Complexhaploinsufficiencyintellectual disabilityloss-of-function mutationMED13L

Identifiers

PMID33930262
PMCPMC8258838

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.