ArticleThe Journal of investigative dermatology2020
GNA11 Mutation as a Cause of Sturge-Weber Syndrome: Expansion of the Phenotypic Spectrum of G
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Article in The Journal of investigative dermatology, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 20 papers.
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20citing papers in PubMed
–field-weighted citation impact
What it found
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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.
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Who cites it
20 citing papers in PubMed.
- Steroids for Drug-Resistant Seizures and Prolonged Stroke-Like Episode in a Patient With Sturge-Weber Syndrome: A Case Report.Annals of the Child Neurology Society · 2026Article
- Sturge-Weber syndrome type III in pediatrics: a case report.Frontiers in radiology · 2026Article
- Vascular malformations: from genetics to therapeutics.EMBO molecular medicine · 2026Review
- Sturge Weber syndrome in a multinational pediatric cohort: a systematic analysis of different types.Orphanet journal of rare diseases · 2025Observational
- Sturge-Weber syndrome secondary glaucoma: From Pathogenesis to Treatment.Eye and vision (London, England) · 2025Review
- Pathophysiology in Brain Arteriovenous Malformations: Focus on Endothelial Dysfunctions and Endothelial-to-Mesenchymal Transition.Biomedicines · 2024Review
- Sturge-Weber syndrome: an update for the pediatrician.World journal of pediatrics : WJP · 2024Review
- GNAQ/GNA11 Mosaicism Causes Aberrant Calcium Signaling Susceptible to Targeted Therapeutics.The Journal of investigative dermatology · 2024Article
- GNAQ/GNA11 Mosaicism Is Associated with Abnormal Serum Calcium Indices and Microvascular Neurocalcification.The Journal of investigative dermatology · 2024Article
- Updates in Genetic Testing for Head and Neck Vascular Anomalies.Oral and maxillofacial surgery clinics of North America · 2024Review
- Sturge-Weber syndrome: Updates in pathogenesis, diagnosis, and treatment.Annals of the Child Neurology Society · 2023Review
- Sturge-Weber Syndrome: A Review of Pathophysiology, Genetics, Clinical Features, and Current Management Approache.The application of clinical genetics · 2023Review
- A novel somatic mutation in GNAQ in a capillary malformation provides insight into molecular pathogenesis.Angiogenesis · 2022Article
- Early-onset hypertension associated with extensive cutaneous capillary malformations harboring postzygotic variants in GNAQ and GNA11.Pediatric dermatology · 2022Article
- Vascular lesions of the pediatric orbit: A radiological walkthrough.Frontiers in pediatrics · 2022Review
- A novel somatic mutation in GNB2 provides new insights to the pathogenesis of Sturge-Weber syndrome.Human molecular genetics · 2021Article
- Vascular Birthmarks as a Clue for Complex and Syndromic Vascular Anomalies.Frontiers in pediatrics · 2021Review
- Sturge-Weber syndrome: an update on the relevant issues for neurosurgeons.Child's nervous system : ChNS : official journal of the International Society for Pediatric Neurosurgery · 2020Review
- A case report of a pregnant woman with Sturge-Weber syndrome.The Journal of international medical research · 2020Article
- Phenotypic Spectrum of GNA11 R183C Mosaicism.Pediatric dermatologyArticle
Corrections and comments
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Authors and funding
17 authors.
Satyamaanasa PolubothuGreat Ormond St Hospital for Children NHS Foundation Trust, and UCL GOS Institute of Child Health, London, United Kingdom; Mosaicism and Precision Medicine Laboratory, The Francis Crick Institute, London, United Kingdom.
Lara Al-OlabiGreat Ormond St Hospital for Children NHS Foundation Trust, and UCL GOS Institute of Child Health, London, United Kingdom.
Maria Carmen Del BoenteDermatology, Hospital del Niño Jesús, San Miguel de Tucumán, Argentina.
Alisha ChackoMosaicism and Precision Medicine Laboratory, The Francis Crick Institute, London, United Kingdom.
Georgios EleftheriouMosaicism and Precision Medicine Laboratory, The Francis Crick Institute, London, United Kingdom.
Mary GloverMosaicism and Precision Medicine Laboratory, The Francis Crick Institute, London, United Kingdom.
David Jiménez-GalloDermatology, Puerta del Mar University Hospital, Cádiz, Spain.
Elizabeth A JonesManchester Centre for Genomic Medicine, Division of Evolution & Genomic Sciences, School of Biological Sciences, Faculty of Biology, Medicine and Health, University of Manchester, Manchester, United Kingdom; Manchester Centre for Genomic Medicine, St Mary's Hospital, Manchester University, NHS Foundation Trust, Health Innovation Manchester, Manchester, United Kingdom.
Debra LomasMosaicism and Precision Medicine Laboratory, The Francis Crick Institute, London, United Kingdom.
Regina Fölster-HolstCampus Kiel, Dermatologie, Venerologie und Allergologie, Universitätsklinikum Schleswig-Holstein, Kiel, Germany.
Samira SyedMosaicism and Precision Medicine Laboratory, The Francis Crick Institute, London, United Kingdom.
Monika TasaniMosaicism and Precision Medicine Laboratory, The Francis Crick Institute, London, United Kingdom.
Anna ThomasGreat Ormond St Hospital for Children NHS Foundation Trust, and UCL GOS Institute of Child Health, London, United Kingdom.
Martin TisdallDepartment of Neurosurgery, Great Ormond St Hospital for Children, NHS Foundation Trust, London, United Kingdom.
Antonio TorreloDermatology, Hospital del Niño Jesús, Madrid, Spain.
Sarah AylettPediatric Neurology, Great Ormond St Hospital for Children, NHS Foundation Trust, London, United Kingdom.
Veronica A KinslerGreat Ormond St Hospital for Children NHS Foundation Trust, and UCL GOS Institute of Child Health, London, United Kingdom; Mosaicism and Precision Medicine Laboratory, The Francis Crick Institute, London, United Kingdom. Electronic address: v.kinsler@ucl.ac.uk.
Funding
Department of HealthWellcome TrustWellcome Trust WT104076MA
Abstract
PubMed holds no abstract for this paper.
Indexed as
GenotypeCapillariesChildChild, PreschoolCohort StudiesFemaleGenetic Association StudiesGTP-Binding Protein alpha SubunitsHumansInfantInfant, NewbornMaleMosaicismMutationPhenotypeProspective StudiesGNA11 protein, humanGTP-Binding Protein alpha Subunits
Identifiers
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Textmetadata
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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.