ArticleAmerican journal of medical genetics. Part A2019
Delineating the expanding phenotype associated with SCAPER gene mutation.
Open access · hybridAbstract readCase ReportsLetter
In one paragraph
Article in American journal of medical genetics. Part A, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 14 papers.
0numbers the graph read from it
0cells of the map it votes in
14citing papers in PubMed
0.5field-weighted citation impact, top 27% of its field
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.
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.
Who cites it
14 citing papers in PubMed, 18 citations in OpenAlex.
- Tubulin autoregulation tunes microtubule dynamics to support multicellular architecture and viability.Nature communications · 2026Article
- Tubulin autoregulation mediator TTC5 regulates neuronal morphology and migration.bioRxiv : the preprint server for biology · 2026Article
- Identification of a Protein-truncating Variant inCurrent medicinal chemistry · 2026Article
- Tubulin autoregulation factors SCAPER and TTC5 recruit γ-tubulin to non-centrosomal MTOCs for neuronal microtubule nucleation and axon regeneration.bioRxiv : the preprint server for biology · 2025Article
- Multi-omics integration identifies molecular markers and biological pathways for carcass and meat quality traits in Nellore cattle.Scientific reports · 2025Article
- Soluble αβ-tubulins reversibly sequester TTC5 to regulate tubulin mRNA decay.Nature communications · 2024Article
- Article
- Enhanced Learning and Memory in Patients withGenes · 2024Article
- A loss of function variant in AGPAT3 underlies intellectual disability and retinitis pigmentosa (IDRP) syndrome.European journal of human genetics : EJHG · 2023Article
- Control of mRNA fate by its encoded nascent polypeptide.Molecular cell · 2023Review
- Mechanism of ribosome-associated mRNA degradation during tubulin autoregulation.Molecular cell · 2023Article
- Cellular and Molecular Mechanisms of Pathogenesis Underlying Inherited Retinal Dystrophies.Biomolecules · 2023Review
- Absence of SCAPER causes male infertility in humans andJournal of medical genetics · 2021Article
- Delineating the expanding phenotype associated with SCAPER gene mutation.American journal of medical genetics. Part A · 2019Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
22 authors at 9 institutions in 2 countries.
James FashamMedical Research, RILD Wellcome Wolfson Centre, University of Exeter Medical School, Royal Devon and Exeter NHS Foundation Trust, Exeter, United Kingdom.ORCID 0000-0002-7614-9202
Gavin ArnoUCL Institute of Ophthalmology, University College London, London, United Kingdom.ORCID 0000-0002-6165-7888
Siying LinMedical Research, RILD Wellcome Wolfson Centre, University of Exeter Medical School, Royal Devon and Exeter NHS Foundation Trust, Exeter, United Kingdom.ORCID 0000-0003-1122-8396
Mingchu XuDepartment of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas.
Keren J CarssDepartment of Haematology, NHS Blood and Transplant Centre, University of Cambridge, Cambridge, United Kingdom.
Sarah HullUCL Institute of Ophthalmology, University College London, London, United Kingdom.
Amelia LaneUCL Institute of Ophthalmology, University College London, London, United Kingdom.
Anthony G RobsonUCL Institute of Ophthalmology, University College London, London, United Kingdom.
Olivia WengerNew Leaf Center, Clinic for Special Children, Mount Eaton, Ohio.
Jay E SelfClinical and Experimental Sciences, Faculty of Medicine, University of Southampton, Southampton, United Kingdom.
Gaurav V HarlalkaMedical Research, RILD Wellcome Wolfson Centre, University of Exeter Medical School, Royal Devon and Exeter NHS Foundation Trust, Exeter, United Kingdom.
Claire G SalterMedical Research, RILD Wellcome Wolfson Centre, University of Exeter Medical School, Royal Devon and Exeter NHS Foundation Trust, Exeter, United Kingdom.
Lynn SchemaDivision of Genetics and Metabolism, University of Minnesota Medical Center - Fairview, Minneapolis, Minnesota.
Timothy J MossDivision of Genetics and Metabolism, Department of Pediatrics, University of Minnesota, Minneapolis, Minnesota.
Michael E CheethamUCL Institute of Ophthalmology, University College London, London, United Kingdom.
Anthony T MooreUCL Institute of Ophthalmology, University College London, London, United Kingdom.
F Lucy RaymondNIHR BioResource - Rare Diseases, Cambridge University Hospitals NHS Foundation Trust, Cambridge, United Kingdom.
Rui ChenDepartment of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas.
Emma L BapleMedical Research, RILD Wellcome Wolfson Centre, University of Exeter Medical School, Royal Devon and Exeter NHS Foundation Trust, Exeter, United Kingdom.ORCID 0000-0002-6637-3411
Andrew R WebsterUCL Institute of Ophthalmology, University College London, London, United Kingdom.ORCID 0000-0001-6915-9560
Andrew H CrosbyMedical Research, RILD Wellcome Wolfson Centre, University of Exeter Medical School, Royal Devon and Exeter NHS Foundation Trust, Exeter, United Kingdom.
NIHR Bioresource Rare Diseases ConsortiumNIHR BioResource - Rare Diseases, Cambridge University Hospitals NHS Foundation Trust, Cambridge, United Kingdom.
Energy Institute · GBUniversity of Exeter · GBBaylor College of Medicine · USClinic for Special Children · USNHS Blood and Transplant · GBUniversity of Cambridge · GBUniversity of Minnesota · USUniversity of Minnesota Medical Center · USUniversity of Southampton · GB
Funding
VISION RESEARCH CENTERP30EY002520 · NEI · BAYLOR COLLEGE OF MEDICINE · PI Samuel M Wu · 1985 to 2026
$14.8MGENETICS OF EARLY ONSET RETINAL DISEASESR01EY018571 · NEI · UNIVERSITY OF CALIFORNIA-IRVINE · PI RUI CHEN · 2008 to 2026
$7.2MMolecular Basis of Human Visual System DisordersR01EY022356 · NEI · UNIVERSITY OF CALIFORNIA-IRVINE · PI RUI CHEN · 2012 to 2026
$6.1MHigh Throughput Genomic Sequencer at BCM Core FacilityS10OD023469 · OD · BAYLOR COLLEGE OF MEDICINE · PI CHEN, RUI · 2017 to 2017
$600kFight for Sight UK 1511/1512Fight for Sight UK 2027Foundation Fighting BlindnessMedical Research Council G1001931Medical Research Council G1002279Moorfields Eye CharityNEI NIH HHS P30 EY002520NEI NIH HHS R01 EY018571NEI NIH HHS R01 EY022356NIH HHS S10 OD023469Retina UK
Abstract
PubMed holds no abstract for this paper.
Indexed as
Genetic Association StudiesGenetic Predisposition to DiseaseMutationPhenotypeAdolescentAdultCarrier ProteinsChildConsanguinityDNA Mutational AnalysisFemaleHumansMaleMiddle AgedPedigreeYoung AdultCarrier ProteinsSCAPER protein, humanBrachydactylyCCNA2-CDK2Intellectual disabilityRetinitis pigmentosaSCAPER
Identifiers
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.