ArticleJournal of medical genetics2017
Genetic Severity Score predicts clinical phenotype in NF2.
Article in Journal of medical genetics, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 79 papers, 1 of them a synthesis that pooled it.
What it found
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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.
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Who cites it
79 citing papers in PubMed, 1 synthesis or guideline pooled it, 139 citations in OpenAlex.
- Stereotactic radiosurgery for vestibular schwannomas in neurofibromatosis type 2 patients: a systematic review and meta-analysis.Journal of neuro-oncology · 2022Pooled it
- Phenotypic and genotypic overlap between mosaic NF2 and schwannomatosis in patients with multiple non-intradermal schwannomas.Human genetics · 2018Trial
- Review
- Article
- Molecular predictors of recurrence in vestibular schwannomas: a transcriptomic and RT-qPCR analysis.European archives of oto-rhino-laryngology : official journal of the European Federation of Oto-Rhino-Laryngological Societies (EUFOS) : affiliated with the German Society for Oto-Rhino-Laryngology - Head and Neck Surgery · 2026Article
- Clinical and Imaging Phenotype of Schwannomatosis in Children, Adolescents and Young Adults.Cancers · 2026Article
- Article
- Determinants of the quality of life of patients with NF2-related schwannomatosis and validation of the Dutch NFTI-QOL questionnaire.Familial cancer · 2026Article
- Increased intracranial pressure in NF2‑related schwannomatosis: an underestimated danger with serious consequences.Journal of neuro-oncology · 2026Article
- Vestibular schwannoma: genetic and epigenetic mechanisms, hearing loss, and emerging therapies.Journal of neuro-oncology · 2026Review
- [BMJ open · 2026Article
- A rare constellation of bilateral progressive visual and auditory loss in neurofibromatosis type 2: a multimodal diagnostic approach.Annals of medicine and surgery (2012) · 2026Article
- Hearing preservation and restoration surgery in NF2-related schwannomatosis.Familial cancer · 2026Article
- Molecular and genetic insights into vestibular schwannoma.Journal of neuro-oncology · 2026Review
- Building a framework for adolescent and young adult transition of care for patients with neurofibromatosis type 1 and neurofibromatosis type 2-related schwannomatosis syndromes.Frontiers in oncology · 2026Review
- T-cell-targeted immunotherapy in neurofibromatosis type 2-related vestibular schwannoma: current evidence and future direction.Brain communications · 2026Review
- Tumor Control After Radiosurgery in Sporadic and Neurofibromatosis Type 2 Vestibular Schwannomas.Cancer medicine · 2026Article
- The tumour immune microenvironment is enriched but suppressed in vestibular schwannoma compared to meningioma: therapeutic implications for NF2-related schwannomatosis.Acta neuropathologica communications · 2025Article
- Surgery in NF2-Schwannomatosis.Familial cancer · 2025Review
- Prevalence, natural history and surgical outcome of spinal meningiomas in NF2-related schwannomatosis.Journal of neuro-oncology · 2025Observational
19 more citing papers are in PubMed but not listed here.
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
8 authors at 4 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundThe clinical severity of disease in neurofibromatosis type 2 (NF2) is variable. Patients affected with a constitutional truncating
methodsWe have assessed NF2 clinical phenotype in 142 patients in relation to the UK NF2 Genetic Severity Score to validate its use as a clinical and research tool.
resultsThe Genetic Severity Score showed significant correlations across 10 measures, including mean age at diagnosis, proportion of patients with bilateral vestibular schwannomas, presence of intracranial meningioma, spinal meningioma and spinal schwannoma, NF2 eye features, hearing grade, age at first radiotherapy, age at first surgery and age starting bevacizumab. In addition there was moderate but significant correlation with age at loss of useful hearing, and weak but significant correlations for mean age at death, quality of life, last optimum Speech Discrimination Score and total number of major interventions. Patients with severe disease presented at a younger age had a higher disease burden and greater requirement of intervention than patients with mild and moderate disease.
conclusionsThis study validates the UK NF2 Genetic Severity Score to stratify patients with NF2 for both clinical use and natural history studies.
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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.