ArticleBrain sciences2018
Clinical and Functional Characterization of the Recurrent TUBA1A p.(Arg2His) Mutation.
Open access · goldAbstract read
In one paragraph
Article in Brain sciences, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 12 papers, 1 of them a synthesis that pooled it.
0numbers the graph read from it
0cells of the map it votes in
12citing papers in PubMed, 1 pooled it
0.9field-weighted citation impact, top 26% 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
12 citing papers in PubMed, 1 synthesis or guideline pooled it, 20 citations in OpenAlex.
- Neuropathology of genetically defined malformations of cortical development-A systematic literature review.Neuropathology and applied neurobiology · 2021Pooled it
- Co-use of cannabis and tobacco in the same occasion: Acute effects. A systematic review.Psychopharmacology · 2026Review
- Identification of Serum Proteome in Children with Autism Spectrum Disorder.Balkan journal of medical genetics : BJMG · 2025Article
- TTLL12 is required for primary ciliary axoneme formation in polarized epithelial cells.EMBO reports · 2024Article
- Mechanism of ribosome-associated mRNA degradation during tubulin autoregulation.Molecular cell · 2023Article
- Non-negative low-rank representation based on dictionary learning for single-cell RNA-sequencing data analysis.BMC genomics · 2022Article
- Understanding molecular mechanisms and predicting phenotypic effects of pathogenic tubulin mutations.PLoS computational biology · 2022Article
- Phenotypes and genotypes in non-consanguineous and consanguineous primary microcephaly: High incidence of epilepsy.Molecular genetics & genomic medicine · 2021Article
- Loss-of-Function Plays a Major Role in Early Neurogenesis of Tubulin α-1 A (TUBA1A) Mutation-Related Brain Malformations.Molecular neurobiology · 2021Article
- [TUBB1 mutation in children with congenital hypothyroidism and thyroid dysgenesis in Shandong, China].Zhongguo dang dai er ke za zhi = Chinese journal of contemporary pediatrics · 2019Article
- Review
- Editorial forBrain sciences · 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
18 authors at 11 institutions in 4 countries.
Jennifer F GardnerInstitute of Medical Genetics, University Hospital of Wales, Cardiff CF14 4XW, UK. jennifer.gardner@wales.nhs.uk.
Thomas D CushionDivision of Cancer and Genetics, School of Medicine, Cardiff University, Cardiff CF14 4XN, UK. cushiont@cardiff.ac.uk.ORCID 0000-0002-0040-0069
Georgios NiotakisPaediatrics Department, Venizelion Hospital, Knossos Ave, P.O. Box 44, Heraklion, 714 09 Crete, Greece. niotakisg@yahoo.gr.
Heather E OlsonEpilepsy Genetics Program, Department of Neurology, Division of Epilepsy and Clinical Neurophysiology, Boston Children's Hospital, Boston, MA 02115, USA. heather.olson@childrens.harvard.edu.
P Ellen GrantFetal-Neonatal Neuroimaging and Developmental Science Center, Boston Children's Hospital, Harvard Medical School, Boston, MA 02115, USA. ellen.grant@childrens.harvard.edu.
Richard H ScottClinical Genetics Unit, Great Ormond Street Hospital for Children NHS Trust, Great Ormond Street, London WC1N 3JH, UK. richard.scott@genomicsengland.co.uk.
Neil StoodleyDepartment of Neuroradiology, North Bristol NHS Trust, Frenchay Hospital, Bristol BS16 1LE, UK. neilstoodley@doctors.org.uk.
Julie S CohenDivision of Neurogenetics, Hugo W. Moser Research Institute, Kennedy Krieger Institute, Baltimore, MD 21205, USA. cohenju@kennedykrieger.org.
Sakkubai NaiduDivision of Neurogenetics, Hugo W. Moser Research Institute, Kennedy Krieger Institute, Baltimore, MD 21205, USA. naidu@kennedykrieger.org.
Tania Attie-BitachUnité d'Embryofœtopathologie, Service d'Histologie Embryologie Cytogénétique, Hôpital Necker-Enfants Malades, Assistance Publique Hôpitaux de Paris (APHP), 75004 Paris, France. tania.attie@inserm.fr.
Maryse BonnièresUnité d'Embryofœtopathologie, Service d'Histologie Embryologie Cytogénétique, Hôpital Necker-Enfants Malades, Assistance Publique Hôpitaux de Paris (APHP), 75004 Paris, France. maryse.bonniere-darcy@aphp.fr.
Lucile BoutaudUnité d'Embryofœtopathologie, Service d'Histologie Embryologie Cytogénétique, Hôpital Necker-Enfants Malades, Assistance Publique Hôpitaux de Paris (APHP), 75004 Paris, France. lucile.boutaud@gmail.com.
Férechté Encha-RazaviUnité d'Embryofœtopathologie, Service d'Histologie Embryologie Cytogénétique, Hôpital Necker-Enfants Malades, Assistance Publique Hôpitaux de Paris (APHP), 75004 Paris, France. ferechte.razavi@aphp.fr.
Sheila M Palmer-SmithInstitute of Medical Genetics, University Hospital of Wales, Cardiff CF14 4XW, UK. sheila.palmer-smith@wales.nhs.uk.
Hood MugalaasiInstitute of Medical Genetics, University Hospital of Wales, Cardiff CF14 4XW, UK. hood.mugalaasi@wales.nhs.uk.
Jonathan G L MullinsInstitute of Life Science, Swansea University Medical School, Swansea SA2 8PP, UK. j.g.l.mullins@swansea.ac.uk.
Daniela T PilzDivision of Cancer and Genetics, School of Medicine, Cardiff University, Cardiff CF14 4XN, UK. pilzdt@cardiff.ac.uk.
Andrew E FryInstitute of Medical Genetics, University Hospital of Wales, Cardiff CF14 4XW, UK. fryae@cardiff.ac.uk.ORCID 0000-0001-9778-6924
University Hospital of Wales · GBBoston Children's Hospital · USDélégation Paris 5 · FRHôpital Necker-Enfants Malades · FRKennedy Krieger Institute · USCardiff University · GBGreat Ormond Street Hospital · GBNorth Bristol NHS Trust · GBQueen Elizabeth University Hospital · GBSwansea University · GBThe General Hospital of Heraklion "Venizeleio-Pananio" · GR
Funding
Mouse Neurodevelopmental Behavior CoreU54HD090255 · NICHD · BOSTON CHILDREN'S HOSPITAL · PI CHEN, CHINFEI · 2016 to 2020
$5.2MDiagnosis and Genotype-Phenotype Correlations in Early Life Epilepsy and CDKL5 DisorderK23NS107646 · NINDS · BOSTON CHILDREN'S HOSPITAL · PI OLSON, HEATHER ELISA · 2018 to 2023
$1.2MNICHD NIH HHS U54 HD090255NINDS NIH HHS K23 NS107646
Abstract
The
Indexed as
cerebellar hypoplasiap.(Arg2His), R2HpolymicrogyriaTUBA1Atubulintubulinopathy
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.