Evidence map›Paper›PMID 40040844›Full record

ArticleBrain communications2025

Biallelic variants in

Mohamed S Abdel-Hamid, Adeline Paimboeuf, Maha S Zaki, Fernanda Figueiredo, Sherif F Abdel-Ghafar, Sabrina Maher, Rún Friðriksdóttir, Patrick Sulem, Hákon Björn Högnason, Sigrún Hallgrímsdóttir and 7 more

Abstract read
In one paragraph

Article in Brain communications, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 6 papers.

0numbers the graph read from it
0cells of the map it votes in
6citing 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

6 citing papers in PubMed.

  1. Article
  2. Review
  3. Article
  4. Article
  5. Article
  6. 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.

Mohamed S Abdel-HamidMedical Molecular Genetics Department, National Research Centre, Human Genetics and Genome Research Institute, Cairo 12622, Egypt.
Adeline PaimboeufCentre Armand Frappier Santé Biotechnologie, Institut National de la Recherche Scientifique (INRS), Laval, QC, Canada  H7V 1B7.
Maha S ZakiClinical Genetics Department, National Research Centre, Human Genetics and Genome Research Institute, Cairo 12622, Egypt.
Fernanda FigueiredoMendelics Genomic Analysis, São Paulo, SP 02511-000, Brazil.
Sherif F Abdel-GhafarMedical Molecular Genetics Department, National Research Centre, Human Genetics and Genome Research Institute, Cairo 12622, Egypt.
Sabrina MaherDepartment of Neuroscience, Université de Montréal, Montréal, QC, Canada  H3T 1J4.
Rún FriðriksdóttirdeCODE Genetics/Amgen Inc., Reykjavik 101, Iceland.
Patrick SulemdeCODE Genetics/Amgen Inc., Reykjavik 101, Iceland.ORCID https://orcid.org/0000-0001-7123-6123
Hákon Björn HögnasonDepartment of Genetics and Molecular Medicine, Landspitali University Hospital, Reykjavik 101, Iceland.
Sigrún HallgrímsdóttirDepartment of Genetics and Molecular Medicine, Landspitali University Hospital, Reykjavik 101, Iceland.
Catarina Falleiros N RojasMaternal and Child Health Care Department, Faculdade de Medicina de Marília, Marília, SP 17509-054, Brazil.
Fernando KokMendelics Genomic Analysis, São Paulo, SP 02511-000, Brazil.
Mohnish SuriDepartment of Clinical Genetics, Nottingham City Hospital, Nottingham NG5 1PB, UK.
César Augusto P F AlvesDivision of Neuroradiology, Department of Radiology, Boston Children's Hospital-BCH Harvard Medical School, Boston, MA 02115, USA.
Henry HouldenDepartment of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, London WC1N 3BG, UK.ORCID https://orcid.org/0000-0002-2866-7777
Reza MaroofianDepartment of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, London WC1N 3BG, UK.ORCID https://orcid.org/0000-0001-6763-1542
Shunmoogum A PattenCentre Armand Frappier Santé Biotechnologie, Institut National de la Recherche Scientifique (INRS), Laval, QC, Canada  H7V 1B7.

Funding

Wellcome Trust
6 · The paper itself

Abstract

RNA polymerase III transcribes essential non-coding RNAs, a process regulated by transcription factors TFIIIB and TFIIIC. Although germline variants in TFIIIC subunit genes have been described in a few patients with neurodevelopmental disorders, the associated pathogenesis and clinical spectrum are not yet well defined. Herein, we describe the identification of biallelic variants in

Indexed as

GTF3C3neurodevelopmental disorderRNA polymerase IIITFIIICzebrafish knockout

Identifiers

PMID40040844
PMCPMC11878552

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.