Associated Papers
Preimplantation genetic testing for neurofibromatosis type 1: molecular genetic aspects and impact on reproductive counseling.
Vernimmen V et al.
Human Reproduction (oxford, England), 2026
41289058 (PubMed )
Supplement: deaf224_supplementary_table_s1.pdf
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
Heterogeneous disease-propagating stem cells in juvenile myelomonocytic leukemia.
Louka E et al.
The Journal of Experimental Medicine, 2021
33416891 (PubMed )
Supplement: JEM_20180853_TableS1.xlsx › Clincal___Hematologic_Data
Comprehensive germline genomic profiles of children, adolescents and young adults with solid tumors.
Akhavanfard S et al.
Nature Communications, 2020
32371905 (PubMed )
Supplement: 41467_2020_16067_MOESM12_ESM.xlsx › Supplementary_Data_5
Clinical Presentation and Novel Pathogenic Variants among 68 Chinese Neurofibromatosis 1 Children.
Yao R et al.
Genes, 2019
31717729 (PubMed )
Supplement: genes-10-00847-s001.zip › genes-555298-supplementary.xlsx › NF1_gene_positve
Neurofibromatosis type 1-related pseudarthrosis: Beyond the pseudarthrosis site.
Brekelmans C et al.
Human Mutation, 2019
Nature and mRNA effect of 282 different NF1 point mutations: focus on splicing alterations.
Pros E et al.
Human Mutation, 2008
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