Evidence map›Paper›PMID 37237142›Full record

ArticleJournal of human genetics2023

Correction: A novel de novo variant in CASK causes a severe neurodevelopmental disorder that masks the phenotype of a novel de novo variant in EEF2.

María Elena Rodríguez-García, Francisco Javier Cotrina-Vinagre, Alexandra N Olson, María Teresa Sánchez-Calvin, Ana Martínez de Aragón, Rogelio Simón de Las Heras, Jonathan D Dinman, Bert B A de Vries, Maria João Nabais Sá, Pilar Quijada-Fraile and 1 more

Open access · bronzeAbstract readPublished Erratum
PubMed Publisher
In one paragraph

Article in Journal of human genetics, 2023. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.

0numbers the graph read from it
0cells of the map it votes in
0citing papers in PubMed
–field-weighted citation impact, top 76% 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

0 citing papers in PubMed, 0 citations in OpenAlex.

No citing paper in PubMed yet.

4 · The record

Corrections and comments

5 · Who and what money

Authors and funding

11 authors at 6 institutions in 4 countries.

María Elena Rodríguez-García *Grupo de Enfermedades Raras, Mitocondriales y Neuromusculares (ERMN). Instituto de Investigación Hospital 12 de Octubre (i + 12), E-28041, Madrid, Spain.
Francisco Javier Cotrina-Vinagre *Grupo de Enfermedades Raras, Mitocondriales y Neuromusculares (ERMN). Instituto de Investigación Hospital 12 de Octubre (i + 12), E-28041, Madrid, Spain.
Alexandra N OlsonDepartment of Chemistry and Biochemistry, University of Maryland, College Park, MD, 20742, USA.
María Teresa Sánchez-CalvinServicio de Genética, Hospital 12 de Octubre, E-28041, Madrid, Spain.
Ana Martínez de AragónServicio de Radiología, Hospital 12 de Octubre, E-28041, Madrid, Spain.
Rogelio Simón de Las HerasUnidad de Neuropediatría, Hospital 12 de Octubre, Madrid, E-28041, Spain.
Jonathan D DinmanDepartment of Cell Biology and Molecular Genetics, University of Maryland, College Park, MD, 20742, USA.
Bert B A de VriesDepartment of Human Genetics, Radboud University Medical Center and Donders Institute for Brain, Cognition and Behavior, 6525 GA, Nijmegen, The Netherlands.ORCID http://orcid.org/0000-0002-0000-2917
Maria João Nabais SáCentre for Predictive and Preventive Genetics (CGPP) and UnIGENe, Institute for Molecular and Cell Biology (IBMC), i3S-Instituto de Investigação e Inovação em Saúde, Universidade do Porto, Porto, Portugal.
Pilar Quijada-FraileUnidad Pediátrica de Enfermedades Raras, Enfermedades Mitocondriales y Metabólicas Hereditarias, Hospital 12 de Octubre, E-28041, Madrid, Spain.
Francisco Martínez-AzorínGrupo de Enfermedades Raras, Mitocondriales y Neuromusculares (ERMN). Instituto de Investigación Hospital 12 de Octubre (i + 12), E-28041, Madrid, Spain. fmartinez@h12o.es.ORCID http://orcid.org/0000-0001-6250-7745
Research Institute Hospital 12 de Octubre · ESUniversity of Maryland, College Park · USHospital Universitario 12 De Octubre · ESi3S - Instituto de Investigação e Inovação em Saúde, Universidade do Porto · PTInstituto de Investigación de Enfermedades Raras · ESRadboud University Nijmegen · NL

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

PubMed holds no abstract for this paper.

Identifiers

PMID37237142
OpenAlexW4378377018

What OpenQuestion holds

Textmetadata
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.