Associated Papers
DNA and RNA base editors can correct the majority of pathogenic single nucleotide variants.
Dadush A et al.
Npj Genomic Medicine, 2024
Mosaicism in Tumor Suppressor Gene Syndromes: Prevalence, Diagnostic Strategies, and Transmission Risk.
Chen JL et al.
Annual Review of Genomics and Human Genetics, 2022
36044908 (PubMed )
Supplement: gg23-giannikou_suptable1.xlsx › NF1
Diagnostic yield and clinical utility of a comprehensive gene panel for hereditary tumor syndromes.
Henn J et al.
Hereditary Cancer in Clinical Practice, 2019
Genetic diagnosis of neurofibromatosis type 1: targeted next- generation sequencing with Multiple Ligation-Dependent Probe Amplification analysis.
Wu-Chou YH et al.
Journal of Biomedical Science, 2018
Landscape of somatic mutations in 560 breast cancer whole-genome sequences.
Nik-Zainal S et al.
Nature, 2016
27135926 (PubMed )
Supplement: NIHMS68344-supplement-Supplementary_Tables_1-21.zip › nature17676-s3 › Supplementary_Table_14.Driver.Events.By.Mutation.Type.01052015.v2.xlsx › Subs.indels
Fifty-four novel mutations in the NF1 gene and integrated analyses of the mutations that modulate splicing.
Xu W et al.
International Journal of Molecular Medicine, 2014
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