ArticleJournal of human genetics2020
Phenotype categorization of neurofibromatosis type I and correlation to NF1 mutation types.
Article in Journal of human genetics, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 30 papers.
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.
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Who cites it
30 citing papers in PubMed, 56 citations in OpenAlex.
- Safety and efficacy of selumetinib in pediatric and adult patients with neurofibromatosis type 1 and plexiform neurofibroma.Neuro-oncology · 2024Trial
- Café-au-lait macules in a cohort of Greek children genetically diagnosed with neurofibromatosis type 1: Prognostic significance beyond their diagnostic relevance.Dermatology online journal · 2026Article
- Resolving variants of uncertain significance in neurofibromatosis: An integrated approach combining deep learning and minigene assays.Functional & integrative genomics · 2026Article
- Translation and Cultural Adaptation of the PedsQL Neurofibromatosis Module, Version 3.0, Into Brazilian Portuguese.Cureus · 2026Article
- Phenotypic characterization of neurofibromatosis type 1 in a large Chinese cohort: A cross-sectional study.JAAD international · 2026Article
- Protein domain-specific genotype-phenotype correlation study of neurofibromatosis type 1.Scientific reports · 2025Article
- Article
- Comparison of rule- and large language model-based phenotype extraction from clinical notes for neurofibromatosis type 1.Journal of the American Medical Informatics Association : JAMIA · 2025Article
- Genetic analysis of 25 Chinese pedigrees with neurofibromatosis type 1 and genotype-phenotype study from an extended cohort.Orphanet journal of rare diseases · 2025Article
- Neurofibromatosis-Noonan syndrome: a prospective monocentric study of 26 patients and literature review.Orphanet journal of rare diseases · 2025Review
- A novel synonymous variant in the NF1 gene disrupting splicing contributes to neurofibromatosis pathogenesis.Frontiers in genetics · 2025Article
- Genotypes and phenotypes of neurofibromatosis type 1 patients in Japan: A Hereditary Tumor Cohort Study.Human genome variation · 2024Article
- Recurrent spontaneous pneumothorax in an NF1 patient with a novel causative variant: broadening genotype-phenotype correlations.BMJ case reports · 2024Article
- A case of infantile spasms with three possibly pathogenic de novo missense variants in NF1 and GABBR1.Human genome variation · 2023Article
- New insights into the molecular basis of spinal neurofibromatosis type 1.European journal of human genetics : EJHG · 2023Article
- Mutational Spectrum and Genotype-phenotype Correlations in Neurofibromatosis Type 1 Patients from North Macedonia: Identification of Ten NovelBalkan medical journal · 2023Article
- Characteristics of Café-au-lait Macules and their Association with the Neurofibromatosis type I Genotype in a Cohort of Greek Children.Acta dermato-venereologica · 2023Article
- A case of solitary neurofibroma in the maxillary gingiva.Journal of surgical case reports · 2022Article
- Age-dependent oral manifestations of neurofibromatosis type 1: a case-control study.Orphanet journal of rare diseases · 2022Article
- Deletion of the whole NF1 gene in a three-generation family with neurofibromatosis type 1.Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology · 2022Article
Corrections and comments
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Authors and funding
14 authors at 4 institutions in 2 countries.
Funding
Abstract
Neurofibromatosis type 1 (NF1) is caused by heterozygous mutation in the NF1 gene. NF1 is one of the most common human genetic diseases. However, the overall genotype-phenotype correlation has not been known, due to a wide spectrum of genotypic and phenotypic heterogeneity. Here we describe the detailed clinical and genetic features of 427 Korean NF1 patients from 389 unrelated families. Long range PCR and sequencing of genomic DNA with multiplex ligation-dependent probe amplification analysis identified 250 different NF1 mutations in 363 families (93%), including 94 novel mutations. With an emphasis on phenotypes requiring medical attention (classified and termed: NF1
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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.