Evidence map›Paper›PMID 34373908›Full record

ArticleBrain : a journal of neurology2021

Expanding the mutational landscape and clinical phenotype of the YIF1B related brain disorder.

Eva Medico Salsench, Reza Maroofian, Ruizhi Deng, Kristina Lanko, Anita Nikoncuk, Belén Pérez, Obdulia Sánchez-Lijarcio, Salvador Ibáñez-Mico, Antonina Wojcik, Marcelo Vargas and 26 more

Abstract readComment
PubMed Full text at PMC Publisher
In one paragraph

Article in Brain : a journal of neurology, 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. A NovelInternational journal of molecular sciences · 2026
    Article
  2. Article
  3. Review
  4. Article
4 · The record

Corrections and comments

5 · Who and what money

Authors and funding

36 authors.

Eva Medico SalsenchDepartment of Clinical Genetics, Erasmus MC University Medical Center, Rotterdam, The Netherlands.ORCID 0000-0002-0263-0458
Reza MaroofianDepartment of Neuromuscular Disorders, UCL Queen Square Institute of Neurology, London WC1N 3BG, UK.
Ruizhi DengDepartment of Clinical Genetics, Erasmus MC University Medical Center, Rotterdam, The Netherlands.
Kristina LankoDepartment of Clinical Genetics, Erasmus MC University Medical Center, Rotterdam, The Netherlands.ORCID 0000-0002-0749-0079
Anita NikoncukDepartment of Clinical Genetics, Erasmus MC University Medical Center, Rotterdam, The Netherlands.
Belén PérezCentro de Diagnóstico de Enfermedades Moleculares. Centro de Biología Molecular, Universidad Autonoma de Madrid, CIBER Enfermedades Raras, IdiPAZ, Madrid, Spain.
Obdulia Sánchez-LijarcioCentro de Diagnóstico de Enfermedades Moleculares. Centro de Biología Molecular, Universidad Autonoma de Madrid, CIBER Enfermedades Raras, IdiPAZ, Madrid, Spain.
Salvador Ibáñez-MicoPediatric Neurology Unit, Arrixaca Universitary Hospital, Murcia, Spain.
Antonina WojcikGillette Children's Specialty Healthcare, St. Paul, MN 55101, USA.
Marcelo VargasGillette Children's Specialty Healthcare, St. Paul, MN 55101, USA.
Nouriya Abbas Al-SannaaJohn Hopkins Aramco Health Care, Pediatric Services, Dhahran, Saudi Arabia.
Marian Y GirgisPediatric Department, Children's Hospital, Cairo University, Cairo, Egypt.
Tainá Regina Damaceno SilveiraCENTOGENE, GmbH, 18055 Rostock, Germany.
Peter BauerCENTOGENE, GmbH, 18055 Rostock, Germany.
Audrey SchroederDivision of Medical Genetics, University of Rochester Medical Center, Rochester, NY 14642, USA.
Chin-To FongDepartments of Pediatrics and of Medicine, University of Rochester Medical Center, Rochester, NY 14642, USA.
Amber BegtrupGeneDx, Gaithersburg, MD 20877, USA.
Meisam BabaeiDepartment of Pediatrics, North Khorasan University of Medical Sciences, Bojnurd, Iran.
Mehran Beiraghi ToosiDepartment of Pediatrics, Faculty of Medicine, Mashhad University of Medical Sciences, Mashhad, Iran.
Farah AshrafzadehDepartment of Pediatrics, Faculty of Medicine, Mashhad University of Medical Sciences, Mashhad, Iran.
Shima ImannezhadDepartment of Pediatrics, Faculty of Medicine, Mashhad University of Medical Sciences, Mashhad, Iran.
Mohammad DoostiDepartment of Medical Genetics, Next Generation Genetic Polyclinic, Mashhad, Iran.
Najmeh AhangariDepartment of Medical Genetics, Next Generation Genetic Polyclinic, Mashhad, Iran.
Paria Najarzadeh TorbatiDepartment of Medical Genetics, Next Generation Genetic Polyclinic, Mashhad, Iran.
Ehsan Ghayoor KarimianiDepartment of Medical Genetics, Next Generation Genetic Polyclinic, Mashhad, Iran.
David MurphyDepartment of Clinical and Movement Neurosciences, UCL Queen Square Institute of Neurology, University College London, UK.
Elisa CaliDepartment of Neuromuscular Disorders, UCL Queen Square Institute of Neurology, London WC1N 3BG, UK.
Ibrahim H KayaCollege of Medicine, AlFaisal University, Riyadh, Kingdom of Saudi Arabia.
Mohammad AlMuhaizeaCollege of Medicine, AlFaisal University, Riyadh, Kingdom of Saudi Arabia.ORCID 0000-0002-1050-3117
Dilek ColakDepartment of Biostatistics, Epidemiology and Scientific Computing, KFSHRC, Riyadh, Kingdom of Saudi Arabia.
Kelly J Cardona-LondoñoKing Abdullah University of Science and Technology (KAUST), Computational Bioscience Research Center (CBRC), Division of Biological and Environmental Sciences and Engineering (BESE), Thuwal 23955-6900, Saudi Arabia.
Stefan T AroldKing Abdullah University of Science and Technology (KAUST), Computational Bioscience Research Center (CBRC), Division of Biological and Environmental Sciences and Engineering (BESE), Thuwal 23955-6900, Saudi Arabia.
Henry HouldenDepartment of Neuromuscular Disorders, UCL Queen Square Institute of Neurology, London WC1N 3BG, UK.ORCID 0000-0002-2866-7777
Aida Bertoli-AvellaCENTOGENE, GmbH, 18055 Rostock, Germany.
Namik KayaDepartment of Translational Genomics, King Faisal Specialist Hospital and Research Centre, Riyadh 11211, Kingdom of Saudi Arabia.ORCID 0000-0001-8912-7507
Tahsin Stefan BarakatDepartment of Clinical Genetics, Erasmus MC University Medical Center, Rotterdam, The Netherlands.ORCID 0000-0003-1231-1562

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

PubMed holds no abstract for this paper.

Indexed as

Brain DiseasesHumansMutationPhenotype

Identifiers

PMID34373908
PMCPMC8634087

What OpenQuestion holds

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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.