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_figure_s2.pdf
Neurofibromin 1 (NF1) Splicing Mutation c.61-2A>G: From Aberrant mRNA Processing to Therapeutic Implications In Silico.
Blazyte A et al.
International Journal of Molecular Sciences, 2026
A genotype-first approach identifies high incidence of NF1 pathogenic variants with distinct disease associations.
Safonov A et al.
Nature Communications, 2025
40169570 (PubMed )
Supplement: 41467_2025_57077_MOESM3_ESM.xlsx › Supplementary_Data_4
Cancer risk assessment of premalignant breast tissues from patients with BRCA mutations by genome profiling.
Hirose T et al.
Npj Breast Cancer, 2024
39366967 (PubMed )
Supplement: 41523_2024_693_MOESM3_ESM.xlsx › Supplementary_Data_3
Diagnostic yield of genetic testing in a heterogeneous cohort of 1376 HCM patients.
Hathaway J et al.
Bmc Cardiovascular Disorders, 2021
33673806 (PubMed )
Supplement: 12872_2021_1927_MOESM2_ESM.xlsx › Sheet1
Clinical and molecular characterization of neurofibromatosis in southern Brazil.
Rosset C et al.
Expert Review of Molecular Diagnostics, 2018
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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