ArticleJournal of medical genetics2021
Defining the phenotypical spectrum associated with variants in
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Article in Journal of medical genetics, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 23 papers, 1 of them a synthesis that pooled it.
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23citing papers in PubMed, 1 pooled it
1.6field-weighted citation impact, top 19% of its field
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Who cites it
23 citing papers in PubMed, 1 synthesis or guideline pooled it, 32 citations in OpenAlex.
- Comprehensive multi-omics integration identifies differentially active enhancers during human brain development with clinical relevance.Genome medicine · 2021Pooled it
- A mouse model of autosomal dominant spastic ataxia and myopathy caused by a mutation in Tuba4a.Human molecular genetics · 2026Article
- Genotypic and phenotypic heterogeneity in tubulinopathies: insights from a Turkish multicenter cohort.Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology · 2026Article
- Precise, predictable genome integrations by deep-learning-assisted design of microhomology-based templates.Nature biotechnology · 2026Article
- TUBB2A related epilepsy: novel variants and genotype-phenotype correlation.Scientific reports · 2026Article
- Architects of the Developing Brain: Cytoskeleton-Organizing Molecules in Neurodevelopmental Disorders.Cells · 2026Review
- A mouse model of autosomal dominant spastic ataxia and myopathy caused by a mutation inbioRxiv : the preprint server for biology · 2026Article
- A spatial and temporal atlas of tubulin isotype expression during neural crest EMT.bioRxiv : the preprint server for biology · 2026Article
- Expanding genetic and clinical spectra of β-tubulinopathies: A Korean study.Journal of human genetics · 2026Article
- TUBB2A expression and its prognostic significance in hepatocellular carcinoma revealed by cholesterol-metabolism-related gene profiling.Frontiers in molecular biosciences · 2026Article
- Expanding the Clinical and Molecular Spectrum ofmedRxiv : the preprint server for health sciences · 2025Article
- Clinical and genetics spectrum of 392 Chinese patients with genetic epilepsy with febrile seizures plus.Journal of neurology · 2025Article
- A mutational hotspot inFrontiers in cellular neuroscience · 2025Article
- Functional genomics screens reveal a role for TBC1D24 and SV2B in antibody-dependent enhancement of dengue virus infection.Journal of virology · 2024Article
- Loss of symmetric cell division of apical neural progenitors drives DENND5A-related developmental and epileptic encephalopathy.Nature communications · 2024Article
- Functional genomics screens reveal a role for TBC1D24 and SV2B in antibody-dependent enhancement of dengue virus infection.bioRxiv : the preprint server for biology · 2024Article
- Loss of symmetric cell division of apical neural progenitors drivesmedRxiv : the preprint server for health sciences · 2024Article
- A cryptic microdeletion del(12)(p11.21p11.23) within an unbalanced translocation t(7;12)(q21.13;q23.1) implicates new candidate loci for intellectual disability and Kallmann syndrome.Scientific reports · 2023Article
- Insights on the Role of α- and β-Tubulin Isotypes in Early Brain Development.Molecular neurobiology · 2023Review
- A microdeletion del(12)(p11.21p11.23) with a cryptic unbalanced translocation t(7;12)(q21.13;q23.1) implicates new candidate loci for intellectual disability and Kallmann syndrome.Research square · 2023Article
Corrections and comments
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Authors and funding
25 authors at 14 institutions in 7 countries.
Stefanie BrockDepartment of Pathology, Universitair Ziekenhuis Brussel, Brussels, Belgium Stefanie.Brock@vub.be.ORCID 0000-0002-4137-512X
Tim VanderhasseltDepartment of Radiology, Universitair Ziekenhuis Brussel, Brussels, Belgium.
Sietske VermaningBelgium Center for Reproduction and Genetics, Universitair Ziekenhuis Brussel, Brussels, Belgium.
Kathelijn KeymolenBelgium Center for Reproduction and Genetics, Universitair Ziekenhuis Brussel, Brussels, Belgium.
Luc RégalPediatric Neurology Unit, Department of Pediatrics, Universitair Ziekenhuis, Brussels, Belgium.
Romina RomanielloNeuropsychiatry and Neurorehabilitation Unit, Scientific Institute, IRCCS Eugenio Medea, Lecco, Italy.ORCID 0000-0002-8709-6732
Dagmar WieczorekInstitut fuer Humangenetik, Universitaetsklininikum Essen, Essen, Germany.
Tim Matthias StormInstitut für Humangenetik, Technische Universität München, Munchen, Bayern, Germany.
Karin SchaeferhoffInstitute of Medical Genetics and Applied Genomics, University of Tübingen, Tübingen, Baden-Württemberg, Germany.
Ute HehrZentrum für Humangenetik Regensburg, Universitätsklinikum Regensburg, Regensburg, Bayern, Germany.
Alma KuechlerInstitut fuer Humangenetik, Universitaetsklininikum Essen, Essen, Germany.
Ingeborg Krägeloh-MannDepartment of Pediatric Neurology and Developmental Medicine, University Children's Hospital Tübingen, University of Tübingen, Tübingen, Germany.
Tobias B HaackInstitute of Medical Genetics and Applied Genomics, Eberhard-Karls-Universitat Tubingen Medizinische Fakultat, Tübingen, Baden-Württemberg, Germany.
Esmee KasteleijnDepartment of Clinical Genetics, Erasmus Medical Center, Rotterdam, Zuid-Holland, The Netherlands.
Rachel SchotDepartment of Clinical Genetics, Erasmus Medical Center, Rotterdam, Zuid-Holland, The Netherlands.
Grazia Maria Simonetta ManciniDepartment of Clinical Genetics, Erasmus Medical Center, Rotterdam, Zuid-Holland, The Netherlands.
Richard WebsterDepartment of Neurology, Children's Hospital at Westmead, Westmead, New South Wales, Australia.
Shekeeb MohammadDepartment of Neurology, Children's Hospital at Westmead, Westmead, New South Wales, Australia.
Richard J LeventerDepartment of Neurology, Murdoch Childrens Research Institute, Melbourne, Victoria, Australia.
Ghayda MirzaaDivision of Genetic Medicine, Department of Pediatrics, Center for Integrative Brain Research, Seattle Children's Research Institute, Seattle, Washington, USA.
William B DobynsDivision of Genetic Medicine, Department of Pediatrics, Center for Integrative Brain Research, Seattle Children's Research Institute, Seattle, Washington, USA.
Nadia Bahi-BuissonEmbryology and Genetics of Congenital Malformations, INSERM, Paris, Île-de-France, France.
Marije MeuwissenCenter of Human Genetics, Universiteit Antwerpen, Antwerpen, Belgium.
Anna C JansenNeurogenetics Research Group, Reproduction Genetics and Regenerative Medicine Research Cluster, Vrije Universiteit Brussel, Brussels, Belgium.ORCID 0000-0002-3835-2824
Katrien StouffsNeurogenetics Research Group, Reproduction Genetics and Regenerative Medicine Research Cluster, Vrije Universiteit Brussel, Brussels, Belgium.ORCID 0000-0001-8164-5692
Universitair Ziekenhuis Brussel · BEErasmus MC · NLVrije Universiteit Brussel · BEChildren's Hospital at Westmead · AUSeattle Children's Hospital · USUniversity of Tübingen · DEHeinrich Heine University Düsseldorf · DEInserm · FRIRCCS Eugenio Medea · ITMurdoch Children's Research Institute · AUUniversität Bayern · DEUniversity Children's Hospital Tübingen · DEUniversity Hospital Regensburg · DEUniversity of Antwerp · BE
Funding
The Genetic Basis of Mid-Hindbrain MalformationsR01NS050375 · NINDS · UNIVERSITY OF MINNESOTA · PI DOBYNS, WILLIAM B. · 2005 to 2019
$9.9MNINDS NIH HHS R01 NS050375
Abstract
backgroundVariants in genes belonging to the tubulin superfamily account for a heterogeneous spectrum of brain malformations referred to as tubulinopathies. Variants in
methodsIn order to further refine the phenotypical spectrum associated with
resultsWe report 12 patients with eight novel and one recurrent variants spread throughout the
conclusionThe imaging phenotype associated with pathogenic variants in
Indexed as
AdolescentAdultBrainCerebellar VermisChildChild, PreschoolDevelopmental DisabilitiesFemaleGenetic Predisposition to DiseaseHumansIntellectual DisabilityMaleMutation, MissenseNervous System MalformationsNeuroimagingPhenotypeTUBB2A protein, humanTubulinclinical geneticsepilepsy and seizuresgeneticsneurologyneurosciences
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