Evidence map›Paper›PMID 38495551›Full record

ArticleFrontiers in molecular neuroscience2024

Human mutations in

Stephanie Efthymiou, Wenyan Han, Muhammad Ilyas, Jun Li, Yichao Yu, Marcello Scala, Nancy T Malintan, Muhammad Ilyas, Nikoleta Vavouraki, Kshitij Mankad and 18 more

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

Article in Frontiers in molecular neuroscience, 2024. 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
1.3field-weighted citation impact, top 24% 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, 4 citations in OpenAlex.

  1. Review
  2. Plasma proteomic analysis of intermuscular fat links muscle integrity with processing speed in older adults.Alzheimer's & dementia : the journal of the Alzheimer's Association · 2025
    Article
  3. 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

28 authors at 13 institutions in 5 countries.

Stephanie EfthymiouDepartment of Neuromuscular Disorders, University College London (UCL) Queen Square Institute of Neurology, London, United Kingdom.
Wenyan HanSynapse and Neural Circuit Research Section, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD, United States.
Muhammad IlyasDepartment of Biological Sciences, International Islamic University Islamabad, Islamabad, Pakistan.
Jun LiSynapse and Neural Circuit Research Section, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD, United States.
Yichao YuCentre for Advanced Biomedical Imaging, Division of Medicine, University College London, London, United Kingdom.
Marcello ScalaDepartment of Neuromuscular Disorders, University College London (UCL) Queen Square Institute of Neurology, London, United Kingdom.
Nancy T MalintanDepartment of Neuromuscular Disorders, University College London (UCL) Queen Square Institute of Neurology, London, United Kingdom.
Muhammad IlyasCentre for Omic Sciences, Islamia College Peshawar, Peshawar, Pakistan.
Nikoleta VavourakiSchool of Pharmacy, University of Reading, Reading, United Kingdom.
Kshitij MankadDepartment of Radiology, Great Ormond Street Hospital, London, United Kingdom.
Reza MaroofianDepartment of Neuromuscular Disorders, University College London (UCL) Queen Square Institute of Neurology, London, United Kingdom.
Clarissa RoccaDepartment of Neuromuscular Disorders, University College London (UCL) Queen Square Institute of Neurology, London, United Kingdom.
Vincenzo SalpietroDepartment of Neuromuscular Disorders, University College London (UCL) Queen Square Institute of Neurology, London, United Kingdom.
Shenela LakhaniCenter for Neurogenetics, Feil Family Brain and Mind Research Institute, Weill Cornell Medicine, New York, NY, United States.
Eric J MallackCenter for Neurogenetics, Feil Family Brain and Mind Research Institute, Weill Cornell Medicine, New York, NY, United States.
Timothy Blake PalculictGeneDx, Gaithersburg, MD, United States.
Hong LiDepartment of Human Genetics, Emory University School of Medicine, Atlanta, GA, United States.
Guojun ZhangDepartment of Human Genetics, Emory University School of Medicine, Atlanta, GA, United States.
Faisal ZafarDepartment of Pediatrics, Multan Hospital, Multan, Pakistan.
Nuzhat RanaDepartment of Pediatrics, Multan Hospital, Multan, Pakistan.
Noriko TakashimaLaboratory for Behavioral and Developmental Disorders, RIKEN Brain Science Institute (BSI), Saitama, Japan.
Hayato MatsunagaDepartment of Medical Pharmacology, Nagasaki University Institute of Biomedical Sciences, Nagasaki, Japan.
Claudia ManzoniSchool of Pharmacy, University College London, London, United Kingdom.
Pasquale StrianoDepartment of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health, Università Degli Studi di Genova, Genoa, Italy.
Mark F LythgoeCentre for Advanced Biomedical Imaging, Division of Medicine, University College London, London, United Kingdom.
Jun ArugaLaboratory for Behavioral and Developmental Disorders, RIKEN Brain Science Institute (BSI), Saitama, Japan.
Wei LuSynapse and Neural Circuit Research Section, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD, United States.
Henry HouldenDepartment of Neuromuscular Disorders, University College London (UCL) Queen Square Institute of Neurology, London, United Kingdom.
University College London · GBNational Hospital for Neurology and Neurosurgery · GBNational Institutes of Health · USMIND Research Institute · USNagasaki University · JPUniversity of Genoa · ITChildren's Healthcare of Atlanta · USEmory University · USGreat Ormond Street Hospital · GBInternational Islamic University, Islamabad · PKIslamia College University · PKRIKEN Center for Brain Science · JPUniversity of Reading · GB

Funding

The regulation of synaptic transmission and neural circuit functionZIANS003136 · NINDS · NATIONAL INSTITUTE OF NEUROLOGICAL DISORDERS AND STROKE · PI LU, WEI · 2012 to 2025
$27.0M
Medical Research Council G0601943Medical Research Council MR/S005021/1Medical Research Council MR/S01165X/1Wellcome Trust
6 · The paper itself

Abstract

This study reports on biallelic homozygous and monoallelic

Indexed as

epilepsyGABAergic synapse developmentglobal developmental delayinhibitory synaptic transmissionNGS - next generation sequencingSLITRK3

Identifiers

PMID38495551
PMCPMC10940442
OpenAlexW4392365077

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.