Evidence map›Paper›PMID 36901693›Full record

ArticleInternational journal of molecular sciences2023

A Comprehensive Genetic Analysis of Slovenian Families with Multiple Cases of Orofacial Clefts Reveals Novel Variants in the Genes

Lara Slavec, Ksenija Geršak, Andreja Eberlinc, Tinka Hovnik, Luca Lovrečić, Irena Mlinarič-Raščan, Nataša Karas Kuželički

Open access · goldFull text read
PubMed Full text at PMC Publisher
In one paragraph

Article in International journal of molecular sciences, 2023. 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
1.3field-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

4 citing papers in PubMed, 4 citations in OpenAlex.

  1. Review
  2. Review
  3. Review
  4. Article
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

7 authors at 2 institutions in 1 country.

Lara SlavecResearch Unit, Division of Gynaecology and Obstetrics, University Medical Centre Ljubljana, 1000 Ljubljana, Slovenia.ORCID 0000-0001-5904-8939
Ksenija GeršakResearch Unit, Division of Gynaecology and Obstetrics, University Medical Centre Ljubljana, 1000 Ljubljana, Slovenia.ORCID 0000-0001-9088-2382
Andreja EberlincDepartment of Maxillofacial and Oral Surgery, University Medical Centre Ljubljana, 1000 Ljubljana, Slovenia.
Tinka HovnikClinical Institute for Special Laboratory Diagnostics, University Children's Hospital, University Medical Centre Ljubljana, 1000 Ljubljana, Slovenia.ORCID 0000-0002-5330-3983
Luca LovrečićDepartment of Gynaecology and Obstetrics, Faculty of Medicine, University of Ljubljana, 1000 Ljubljana, Slovenia.
Irena Mlinarič-RaščanDepartment of Clinical Biochemistry, Faculty of Pharmacy, University of Ljubljana, 1000 Ljubljana, Slovenia.
Nataša Karas KuželičkiDepartment of Clinical Biochemistry, Faculty of Pharmacy, University of Ljubljana, 1000 Ljubljana, Slovenia.
University of Ljubljana · SILjubljana University Medical Centre · SI

Funding

Slovenian Research Agency P3-0124, J3-8207, MR51882the Ministry of Education, Science, and Sport (MIZŠ) and the European Regional Development Fund OP20.05187 RI-SI-EATRIS
6 · The paper itself

Abstract

Although the aetiology of non-syndromic orofacial clefts (nsOFCs) is usually multifactorial, syndromic OFCs (syOFCs) are often caused by single mutations in known genes. Some syndromes, e.g., Van der Woude syndrome (VWS1; VWS2) and X-linked cleft palate with or without ankyloglossia (CPX), show only minor clinical signs in addition to OFC and are sometimes difficult to differentiate from nsOFCs. We recruited 34 Slovenian multi-case families with apparent nsOFCs (isolated OFCs or OFCs with minor additional facial signs). First, we examined

Indexed as

Cleft LipCleft PalateBrainComparative Genomic HybridizationDNA-Binding ProteinsHumansInterferon Regulatory FactorsMutationPedigreeT-Box Domain ProteinsTranscription FactorsDNA-Binding ProteinsGRHL3 protein, humanInterferon Regulatory FactorsIRF6 protein, humanT-Box Domain ProteinsTBX22 protein, humanTranscription Factorsfamily studygeneticsGRHL3IRF6non-syndromic orofacial cleftTBX22Van der Woude syndromewhole exome sequencingX-linked cleft palate with or without ankyloglossia

Identifiers

PMID36901693
PMCPMC10002089
OpenAlexW4321459799

What OpenQuestion holds

Textfull text, public
LicenceCC BY
measurements read22
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.