Evidence map›Paper›PMID 32227164›Full record

ArticleBrain : a journal of neurology2020

RSRC1 loss-of-function variants cause mild to moderate autosomal recessive intellectual disability.

Marcello Scala, Majid Mojarrad, Saima Riazuddin, Karlla W Brigatti, Zineb Ammous, Julie S Cohen, Heba Hosny, Muhammad A Usmani, Mohsin Shahzad, Sheikh Riazuddin and 18 more

Open access · hybridAbstract readLetter
PubMed Full text at PMC Publisher
In one paragraph

Article in Brain : a journal of neurology, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 7 papers, 1 of them a synthesis that pooled it.

0numbers the graph read from it
0cells of the map it votes in
7citing papers in PubMed, 1 pooled it
1.4field-weighted citation impact, top 18% 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

7 citing papers in PubMed, 1 synthesis or guideline pooled it, 12 citations in OpenAlex.

  1. Pooled it
  2. Article
  3. Article
  4. Review
  5. AMolecular medicine reports · 2022
    Article
  6. Article
  7. 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 14 institutions in 6 countries.

Marcello ScalaUCL Queen Square Institute of Neurology, University College London, London, UK.
Majid MojarradDepartment of Medical Genetics, Faculty of Medicine, Mashhad University of Medical Sciences, Mashhad, Iran.
Saima RiazuddinDepartment of Otorhinolaryngology Head and Neck Surgery, School of Medicine, University of Maryland, Baltimore, MD 21201, USA.
Karlla W BrigattiClinic for Special Children, Strasburg, PA, USA.
Zineb AmmousCommunity Health Clinic, Topeka, IN, USA.
Julie S CohenDepartments of Neurology and Pediatrics, Kennedy Krieger Institute, Johns Hopkins Medical Institutions, Baltimore, MD, USA.
Heba HosnyNational Institute of Neuromotor System, Cairo, Egypt.
Muhammad A UsmaniDepartment of Otorhinolaryngology Head and Neck Surgery, School of Medicine, University of Maryland, Baltimore, MD 21201, USA.
Mohsin ShahzadCenter for Genetic Diseases, Shaheed Zulfiqar Ali Bhutto Medical University, Pakistan Institute of Medical Sciences, Islamabad, Pakistan.
Sheikh RiazuddinCenter for Genetic Diseases, Shaheed Zulfiqar Ali Bhutto Medical University, Pakistan Institute of Medical Sciences, Islamabad, Pakistan.
Valentina StanleyDepartment of Neuroscience, Rady Children's Institute for Genomic Medicine, Howard Hughes Medical Institute, University of California, San Diego, CA, USA.
Atiye EslahiDepartment of Medical Genetics, Faculty of Medicine, Mashhad University of Medical Sciences, Mashhad, Iran.
Richard E PersonGeneDx, Gaithersburg, Maryland, USA.
Hasnaa M ElbendaryClinical Genetics Department, Human Genetics and Genome Research Division, National Research Centre, Cairo 12311, Egypt.
Anne M ComiDepartments of Neurology and Pediatrics, Kennedy Krieger Institute, Johns Hopkins Medical Institutions, Baltimore, MD, USA.
Laura PoskittClinic for Special Children, Strasburg, PA, USA.
Vincenzo SalpietroUCL Queen Square Institute of Neurology, University College London, London, UK.
Queen Square GenomicsUCL Queen Square Institute of Neurology, University College London, London, UK.
Jill A RosenfeldDepartment of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.
Katie B WilliamsDepartment of Pediatrics, University of Wisconsin Hospitals and Clinics, Madison, WI, USA.
Dana MarafiDepartment of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.
Fan XiaDepartment of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.
Marta Biderman WaberskiGenetics and Molecular Biology Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland, USA.
Maha S ZakiClinical Genetics Department, Human Genetics and Genome Research Division, National Research Centre, Cairo 12311, Egypt.
Joseph GleesonDepartment of Neuroscience, Rady Children's Institute for Genomic Medicine, Howard Hughes Medical Institute, University of California, San Diego, CA, USA.
Erik PuffenbergerClinic for Special Children, Strasburg, PA, USA.
Henry HouldenUCL Queen Square Institute of Neurology, University College London, London, UK.
Reza MaroofianUCL Queen Square Institute of Neurology, University College London, London, UK.
Baylor College of Medicine · USClinic for Special Children · USNational Hospital for Neurology and Neurosurgery · GBChildren’s Institute · USIstituto Giannina Gaslini · ITKennedy Krieger Institute · USMashhad University of Medical Sciences · IRNational Research Centre · EGUniversity of Maryland, Baltimore · USNational Institutes of Health · USPakistan Institute of Medical Sciences · PKThe National Institute of Neuromotor System · EGUniversity of the Punjab · PKUW Health University Hospital · US

Funding

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/1NINDS NIH HHS R01 NS107428
6 · The paper itself

Abstract

PubMed holds no abstract for this paper.

Indexed as

AdolescentChildChild, PreschoolFemaleGenes, RecessiveHumansIntellectual DisabilityLoss of Function MutationMaleNuclear ProteinsNuclear ProteinsRSRC1 protein, human

Identifiers

PMID32227164
PMCPMC7174030
OpenAlexW3013623448

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.