Evidence map›Paper›PMID 33557041›Full record

ArticleInternational journal of molecular sciences2021

Laura Castilla-Vallmanya, Semra Gürsoy, Özlem Giray-Bozkaya, Aina Prat-Planas, Gemma Bullich, Leslie Matalonga, Mónica Centeno-Pla, Raquel Rabionet, Daniel Grinberg, Susanna Balcells and 1 more

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

Article in International journal of molecular sciences, 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
0.3field-weighted citation impact, top 45% 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

4 citing papers in PubMed, 4 citations in OpenAlex.

  1. Article
  2. Molecular Research in Medical Genetics.International journal of molecular sciences · 2022
    Article
  3. Review
  4. 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

11 authors at 4 institutions in 2 countries.

Laura Castilla-VallmanyaIBUB, IRSJD, and CIBERER (ISCIII), Department of Genetics, Microbiology and Statistics, Faculty of Biology, University of Barcelona, 08028 Barcelona, Spain.ORCID 0000-0002-2260-9664
Semra GürsoyDepartment of Pediatric Genetics, Dr. Behcet Uz Children's Hospital, Izmir 35210, Turkey.
Özlem Giray-BozkayaDepartment of Pediatric Genetics, Faculty of Medicine, Dokuz Eylul University, Izmir 35340, Turkey.
Aina Prat-PlanasIBUB, IRSJD, and CIBERER (ISCIII), Department of Genetics, Microbiology and Statistics, Faculty of Biology, University of Barcelona, 08028 Barcelona, Spain.ORCID 0000-0003-3040-6549
Gemma BullichCNAG-CRG, Centre for Genomic Regulation (CRG), Barcelona Institute of Science and Technology (BIST), 08028 Barcelona, Spain.
Leslie MatalongaCNAG-CRG, Centre for Genomic Regulation (CRG), Barcelona Institute of Science and Technology (BIST), 08028 Barcelona, Spain.
Mónica Centeno-PlaIBUB, IRSJD, and CIBERER (ISCIII), Department of Genetics, Microbiology and Statistics, Faculty of Biology, University of Barcelona, 08028 Barcelona, Spain.ORCID 0000-0002-8881-0264
Raquel RabionetIBUB, IRSJD, and CIBERER (ISCIII), Department of Genetics, Microbiology and Statistics, Faculty of Biology, University of Barcelona, 08028 Barcelona, Spain.ORCID 0000-0001-5006-8140
Daniel GrinbergIBUB, IRSJD, and CIBERER (ISCIII), Department of Genetics, Microbiology and Statistics, Faculty of Biology, University of Barcelona, 08028 Barcelona, Spain.ORCID 0000-0001-9859-2590
Susanna BalcellsIBUB, IRSJD, and CIBERER (ISCIII), Department of Genetics, Microbiology and Statistics, Faculty of Biology, University of Barcelona, 08028 Barcelona, Spain.
Roser UrreiztiIBUB, IRSJD, and CIBERER (ISCIII), Department of Genetics, Microbiology and Statistics, Faculty of Biology, University of Barcelona, 08028 Barcelona, Spain.
Centre for Biomedical Network Research on Rare Diseases · ESCentre for Genomic Regulation · ESDokuz Eylül University · TRDr. Behçet Uz Çocuk Hastalıkları Hastanesi · TR

Funding

Associació Síndrome Opitz C -Centro de Investigación Biomedica en Red de Enfermedades Raras (CIBERER) ACCI2018-15Departament de Salut, Generalitat de Catalunya PERIS SLT002/16/00174Ministerio de Ciencia e Innovación SAF2016-75946R
6 · The paper itself

Abstract

We present a Turkish family with two cousins (OC15 and OC15b) affected with syndromic developmental delay, microcephaly, and trigonocephaly but with some phenotypic traits distinct between them. OC15 showed asymmetrical skeletal defects and syndactyly, while OC15b presented with a more severe microcephaly and semilobal holoprosencephaly. All four progenitors were related and OC15 parents were consanguineous. Whole Exome Sequencing (WES) analysis was performed on patient OC15 as a singleton and on the OC15b trio. Selected variants were validated by Sanger sequencing. We did not identify any shared variant that could be associated with the disease. Instead, each patient presented a de novo heterozygous variant in a different gene. OC15 carried a nonsense mutation (p.Arg95*) in

Indexed as

ConsanguinityMutationAcyltransferasesChildChild, PreschoolDNA Mutational AnalysisFaciesFemaleGenetic Association StudiesGenetic Predisposition to DiseaseGenotypeHumansMaleMembrane ProteinsNuclear ProteinsPedigreeAcyltransferasesMembrane ProteinsNuclear ProteinsPORCN protein, humanTranscription FactorsZIC2 protein, humanclinical geneticsconsanguinityfocal dermal hypoplasiaholoprosencephalyneurodevelopmental diseasewhole exome sequencing

Identifiers

PMID33557041
PMCPMC7913830
OpenAlexW3126824082

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.