Evidence map›Paper›PMID 37107607›Full record

ArticleGenes2023

A Complex Intrachromosomal Rearrangement Disrupting

Alya A Al-Kurbi, Elbay Aliyev, Sana AlSa'afin, Waleed Aamer, Sasirekha Palaniswamy, Aljazi Al-Maraghi, Houda Kilani, Ammira Al-Shabeeb Akil, Mitchell A Stotland, Khalid A Fakhro

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

Article in Genes, 2023. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 1 paper.

0numbers the graph read from it
0cells of the map it votes in
1citing 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

1 citing paper in PubMed, 4 citations in OpenAlex.

  1. 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

10 authors at 2 institutions in 1 country.

Alya A Al-KurbiCollege of Health and Life Sciences, Hamad Bin Khalifa University, Doha 34110, Qatar.ORCID 0000-0002-3483-2660
Elbay AliyevDepartment of Human Genetics, Sidra Medicine, Doha 26999, Qatar.ORCID 0000-0002-6469-1854
Sana AlSa'afinCollege of Health and Life Sciences, Hamad Bin Khalifa University, Doha 34110, Qatar.
Waleed AamerDepartment of Human Genetics, Sidra Medicine, Doha 26999, Qatar.ORCID 0000-0002-1324-3509
Sasirekha PalaniswamyDepartment of Human Genetics, Sidra Medicine, Doha 26999, Qatar.ORCID 0000-0003-3317-9775
Aljazi Al-MaraghiDepartment of Human Genetics, Sidra Medicine, Doha 26999, Qatar.
Houda KilaniDivision of Plastic and Craniofacial Surgery, Sidra Medicine, Doha 26999, Qatar.
Ammira Al-Shabeeb AkilDepartment of Human Genetics, Sidra Medicine, Doha 26999, Qatar.
Mitchell A StotlandDivision of Plastic and Craniofacial Surgery, Sidra Medicine, Doha 26999, Qatar.
Khalid A FakhroCollege of Health and Life Sciences, Hamad Bin Khalifa University, Doha 34110, Qatar.ORCID 0000-0002-3150-1276
Hamad bin Khalifa University · QAWeill Cornell Medical College in Qatar · QA

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Clefts of the lip and/or palate (CL/P) are considered the most common form of congenital anomalies occurring either in isolation or in association with other clinical features. Van der woude syndrome (VWS) is associated with about 2% of all CL/P cases and is further characterized by having lower lip pits. Popliteal pterygium syndrome (PPS) is a more severe form of VWS, normally characterized by orofacial clefts, lower lip pits, skin webbing, skeletal anomalies and syndactyly of toes and fingers. Both syndromes are inherited in an autosomal dominant manner, usually caused by heterozygous mutations in the Interferon Regulatory Factor 6 (

Indexed as

Cleft LipCleft PalatePterygiumAbnormalities, MultipleCystsEye AbnormalitiesFingersHumansInterferon Regulatory FactorsKnee JointLipLower Extremity Deformities, CongenitalSyndactylyUrogenital AbnormalitiesInterferon Regulatory FactorsIRF6 protein, human1q32cleft lipCleft palateintrachromosomal rearrangementsIRF6 genepopliteal pterygium syndromesyndactylywhole-genome sequencing

Identifiers

PMID37107607
PMCPMC10137688
OpenAlexW4362474301

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.