Associated Papers
Genetic characterization of a Chinese cohort of suspected pediatric NF1 patients: a large-scale study using optimized whole-exome sequencing.
Wang K et al.
Journal of Human Genetics, 2025
Contribution of whole genome sequencing in the molecular diagnosis of mosaic partial deletion of the NF1 gene in neurofibromatosis type 1.
Pacot L et al.
Human Genetics, 2023
Recommendations for clinical interpretation of variants found in non-coding regions of the genome.
Ellingford JM et al.
Genome Medicine, 2022
Diagnostic utility of next-generation sequencing-based panel testing in 543 patients with suspected skeletal dysplasia.
Scocchia A et al.
Orphanet Journal of Rare Diseases, 2021
34627339 (PubMed )
Supplement: 13023_2021_2025_MOESM3_ESM.xlsx › Targeted_non-coding_variants
Pathogenic noncoding variants in the neurofibromatosis and schwannomatosis predisposition genes.
Perez-Becerril C et al.
Human Mutation, 2021
Comprehensive RNA Analysis of the NF1 Gene in Classically Affected NF1 Affected Individuals Meeting NIH Criteria has High Sensitivity and Mutation Negative Testing is Reassuring in Isolated Cases With Pigmentary Features Only.
Evans DG et al.
Ebiomedicine, 2016
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