A Biallelic Variant in

Norah Alsaleh, Amal Alhashem, Brahim Tabarki, Sarar Mohamed, Essa Alharby, Fowzan S Alkuraya, Naif A M Almontashiri

Open access · goldAbstract read

In one paragraph

Article in Neurology. Genetics, 2022. 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

0.7field-weighted citation impact, top 25% 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, 5 citations in OpenAlex.

A novel homozygous splicing variant in FRA10AC1: further delineation of the phenotype.Journal of human genetics · 2026
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Torticollis as an early manifestation of basilar invagination in a paediatric patient.BMJ case reports · 2024
Article
Unravelling the link between neurodevelopmental disorders and short tandem CGG-repeat expansions.Emerging topics in life sciences · 2023
Review
Reconstruction of a Comprehensive Interactome and Experimental Data Analysis of FRA10AC1 May Provide Insights into Its Biological Role in Health and Disease.Genes · 2023
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 1 institution in 2 countries.

Norah AlsalehDivision of Medical Genetics and Metabolic Medicine (N.A., S.M.), Department of Pediatrics, Prince Sultan Military Medical City; Department of Anatomy and Cell Biology (A.A.), College of Medicine, Alfaisal University; Division of Neurology (A.A., B.T.), Department of Pediatrics, Prince Sultan Military Medical City; Department of Pediatrics (S.M.), College of Medicine, Alfaisal University, Riyadh; Center for Genetics and Inherited Diseases (E.A., N.A.M.A.), Taibah University, Almadinah Almunwarah; Department of Translational Genomics (F.S.A.), Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center, Riyadh; Faculty of Applied Medical Sciences (N.A.M.A.), Taibah University, Almadinah Almunwarah; and Noor Diagnostics and Discovery (N.A.M.A.), Innovation Cluster, King Abdullah University of Science and Technology (KAUST), Thuwal, Saudi Arabia.

Amal AlhashemDivision of Medical Genetics and Metabolic Medicine (N.A., S.M.), Department of Pediatrics, Prince Sultan Military Medical City; Department of Anatomy and Cell Biology (A.A.), College of Medicine, Alfaisal University; Division of Neurology (A.A., B.T.), Department of Pediatrics, Prince Sultan Military Medical City; Department of Pediatrics (S.M.), College of Medicine, Alfaisal University, Riyadh; Center for Genetics and Inherited Diseases (E.A., N.A.M.A.), Taibah University, Almadinah Almunwarah; Department of Translational Genomics (F.S.A.), Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center, Riyadh; Faculty of Applied Medical Sciences (N.A.M.A.), Taibah University, Almadinah Almunwarah; and Noor Diagnostics and Discovery (N.A.M.A.), Innovation Cluster, King Abdullah University of Science and Technology (KAUST), Thuwal, Saudi Arabia.ORCID https://orcid.org/0000-0002-9668-7809

Brahim TabarkiDivision of Medical Genetics and Metabolic Medicine (N.A., S.M.), Department of Pediatrics, Prince Sultan Military Medical City; Department of Anatomy and Cell Biology (A.A.), College of Medicine, Alfaisal University; Division of Neurology (A.A., B.T.), Department of Pediatrics, Prince Sultan Military Medical City; Department of Pediatrics (S.M.), College of Medicine, Alfaisal University, Riyadh; Center for Genetics and Inherited Diseases (E.A., N.A.M.A.), Taibah University, Almadinah Almunwarah; Department of Translational Genomics (F.S.A.), Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center, Riyadh; Faculty of Applied Medical Sciences (N.A.M.A.), Taibah University, Almadinah Almunwarah; and Noor Diagnostics and Discovery (N.A.M.A.), Innovation Cluster, King Abdullah University of Science and Technology (KAUST), Thuwal, Saudi Arabia.

Sarar MohamedDivision of Medical Genetics and Metabolic Medicine (N.A., S.M.), Department of Pediatrics, Prince Sultan Military Medical City; Department of Anatomy and Cell Biology (A.A.), College of Medicine, Alfaisal University; Division of Neurology (A.A., B.T.), Department of Pediatrics, Prince Sultan Military Medical City; Department of Pediatrics (S.M.), College of Medicine, Alfaisal University, Riyadh; Center for Genetics and Inherited Diseases (E.A., N.A.M.A.), Taibah University, Almadinah Almunwarah; Department of Translational Genomics (F.S.A.), Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center, Riyadh; Faculty of Applied Medical Sciences (N.A.M.A.), Taibah University, Almadinah Almunwarah; and Noor Diagnostics and Discovery (N.A.M.A.), Innovation Cluster, King Abdullah University of Science and Technology (KAUST), Thuwal, Saudi Arabia.

Essa AlharbyDivision of Medical Genetics and Metabolic Medicine (N.A., S.M.), Department of Pediatrics, Prince Sultan Military Medical City; Department of Anatomy and Cell Biology (A.A.), College of Medicine, Alfaisal University; Division of Neurology (A.A., B.T.), Department of Pediatrics, Prince Sultan Military Medical City; Department of Pediatrics (S.M.), College of Medicine, Alfaisal University, Riyadh; Center for Genetics and Inherited Diseases (E.A., N.A.M.A.), Taibah University, Almadinah Almunwarah; Department of Translational Genomics (F.S.A.), Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center, Riyadh; Faculty of Applied Medical Sciences (N.A.M.A.), Taibah University, Almadinah Almunwarah; and Noor Diagnostics and Discovery (N.A.M.A.), Innovation Cluster, King Abdullah University of Science and Technology (KAUST), Thuwal, Saudi Arabia.

Fowzan S AlkurayaDivision of Medical Genetics and Metabolic Medicine (N.A., S.M.), Department of Pediatrics, Prince Sultan Military Medical City; Department of Anatomy and Cell Biology (A.A.), College of Medicine, Alfaisal University; Division of Neurology (A.A., B.T.), Department of Pediatrics, Prince Sultan Military Medical City; Department of Pediatrics (S.M.), College of Medicine, Alfaisal University, Riyadh; Center for Genetics and Inherited Diseases (E.A., N.A.M.A.), Taibah University, Almadinah Almunwarah; Department of Translational Genomics (F.S.A.), Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center, Riyadh; Faculty of Applied Medical Sciences (N.A.M.A.), Taibah University, Almadinah Almunwarah; and Noor Diagnostics and Discovery (N.A.M.A.), Innovation Cluster, King Abdullah University of Science and Technology (KAUST), Thuwal, Saudi Arabia.ORCID https://orcid.org/0000-0003-4158-341X

Naif A M AlmontashiriDivision of Medical Genetics and Metabolic Medicine (N.A., S.M.), Department of Pediatrics, Prince Sultan Military Medical City; Department of Anatomy and Cell Biology (A.A.), College of Medicine, Alfaisal University; Division of Neurology (A.A., B.T.), Department of Pediatrics, Prince Sultan Military Medical City; Department of Pediatrics (S.M.), College of Medicine, Alfaisal University, Riyadh; Center for Genetics and Inherited Diseases (E.A., N.A.M.A.), Taibah University, Almadinah Almunwarah; Department of Translational Genomics (F.S.A.), Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center, Riyadh; Faculty of Applied Medical Sciences (N.A.M.A.), Taibah University, Almadinah Almunwarah; and Noor Diagnostics and Discovery (N.A.M.A.), Innovation Cluster, King Abdullah University of Science and Technology (KAUST), Thuwal, Saudi Arabia.ORCID https://orcid.org/0000-0003-3607-395X

Riyadh Armed Forces Hospital · SA

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Objectives: Our objective was to identify the genetic cause in a family with a remarkable history of neurodevelopmental disease and growth retardation. Methods: A neurologic evaluation was performed, and DNA samples were obtained from the affected siblings and parents to perform whole-exome sequencing (WES). Results: Both siblings presented with dysmorphic features, failure to thrive, global developmental delay, generalized hypotonia, feeding problems, and congenital heart disease. WES revealed a homozygous nonsense variant in the Discussion: A recent study has reported the first association of biallelic variants in the spliceosomal C complex gene,

Identifiers

PMID35821753

DOI10.1212/NXG.0000000000200010

PMCPMC9269531

OpenAlexW4284962411

What OpenQuestion holds

Textmetadata

LicenceCC BY-NC-ND

Read underepoch 390

Registered trials

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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.