Evidence map›Paper›PMID 34557665›Full record

ArticleBrain communications2021

Homozygous missense

Reza Maroofian, Andrea Gubas, Rauan Kaiyrzhanov, Marcello Scala, Khalid Hundallah, Mariasavina Severino, Mohamed S Abdel-Hamid, Jill A Rosenfeld, Darius Ebrahimi-Fakhari, Zahir Ali and 5 more

Open access · goldAbstract read
In one paragraph

Article in Brain communications, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 10 papers.

0numbers the graph read from it
0cells of the map it votes in
10citing papers in PubMed
1.0field-weighted citation impact, top 25% 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

10 citing papers in PubMed, 18 citations in OpenAlex.

  1. Review
  2. Article
  3. Article
  4. Article
  5. Article
  6. Review
  7. Article
  8. Autophagy genes in biology and disease.Nature reviews. Genetics · 2023
    Review
  9. Article
  10. WIPI proteins: Biological functions and related syndromes.Frontiers in molecular neuroscience · 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

15 authors at 10 institutions in 7 countries.

Reza MaroofianDepartment of Neuromuscular Diseases, University College London, Queen Square, Institute of Neurology, London, UK.
Andrea GubasGoethe University Medical School, University Hospital, 60590 Frankfurt am Main, Germany.
Rauan KaiyrzhanovDepartment of Neuromuscular Diseases, University College London, Queen Square, Institute of Neurology, London, UK.ORCID https://orcid.org/0000-0003-1640-4010
Marcello ScalaDepartment of Neuromuscular Diseases, University College London, Queen Square, Institute of Neurology, London, UK.
Khalid HundallahDivision of Neurology, Department of Pediatrics, Prince Sultan Military Medical City, Riyadh, Saudi Arabia.
Mariasavina SeverinoNeuroradiology Unit, IRCCS Istituto Giannina Gaslini, Genoa, Italy.ORCID https://orcid.org/0000-0003-4730-5322
Mohamed S Abdel-HamidMedical Molecular Genetics Department, Human Genetics and Genome Research Division, National Research Centre, Cairo, Egypt.
Jill A RosenfeldDepartment of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.ORCID https://orcid.org/0000-0001-5664-7987
Darius Ebrahimi-FakhariDepartment of Neurology, The F.M. Kirby Neurobiology Center, Boston Children's Hospital, Harvard Medical School, Boston, MA 02115, USA.ORCID https://orcid.org/0000-0002-0026-4714
Zahir AliLaboratory for Genome Engineering, Division of Biological Sciences, 4700 King Abdullah University of Science and Technology, Thuwal 23955-6900, Saudi Arabia.
Fazal RahimDepartment of Physiology, Bacha Khan Medical College, Mardan, Pakistan.
Henry HouldenDepartment of Neuromuscular Diseases, University College London, Queen Square, Institute of Neurology, London, UK.ORCID https://orcid.org/0000-0002-2866-7777
Sharon A ToozeThe Francis Crick Institute, Molecular Cell Biology of Autophagy, NW1 1AT London, UK.
Norah S AlsalehDivision of Medical Genetics and Metabolic Medicine, Department of Pediatrics, Prince Sultan Military Medical City, 11159 Riyadh, Saudi Arabia.
Maha S ZakiHuman Genetics and Genome Research Division, Clinical Genetics Department, National Research Centre, 12311 Cairo, Egypt.
National Hospital for Neurology and Neurosurgery · GBIstituto Giannina Gaslini · ITNational Research Centre · EGRiyadh Armed Forces Hospital · SABacha Khan University · PKBaylor College of Medicine · USBoston Children's Hospital · USGoethe University Frankfurt · DEKing Abdullah University of Science and Technology · SAThe Francis Crick Institute · GB

Funding

Genetic Analysis and Manipulation Core (GAEC)P50HD105351 · NICHD · BOSTON CHILDREN'S HOSPITAL · PI SCOTT Loren POMEROY, MUSTAFA SAHIN · 2021 to 2026
$9.4M
Genetics and Functional Studies of Autosomal Recessive Neurological DisordersR01NS107428 · NINDS · UNIVERSITY OF MARYLAND BALTIMORE · PI Saima Riazuddin · 2018 to 2026
$4.7M
Medical Research Council G0601943Medical Research Council MR/S005021/1Medical Research Council MR/S01165X/1NICHD NIH HHS P50 HD105351NINDS NIH HHS R01 NS107428Wellcome Trust FC001187
6 · The paper itself

Abstract

PubMed holds no abstract for this paper.

Indexed as

autophagycongenital disorders of autophagyneurodevelopmental disorderWIPI2WIPI2b

Identifiers

PMID34557665
PMCPMC8453401
OpenAlexW3198680120

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.