Associated Papers
Clinical and molecular characterization of 148 pediatric neurofibromatosis type 1 patients: a single-center study identifying 14 novel variants.
Genç A et al.
European Journal of Pediatrics, 2025
RENOVO-NF1 accurately predicts NF1 missense variant pathogenicity.
Bonetti E et al.
Human Genomics, 2025
40887659 (PubMed )
Supplement: 40246_2025_803_MOESM3_ESM.xlsx › Sheet_1
The NF1 gene mutations and co-mutations in lung adenocarcinomas with brain metastasis.
Kahraman-Cetin N et al.
Indian Journal of Pathology & Microbiology, 2025
A scalable and cGMP-compatible autologous organotypic cell therapy for Dystrophic Epidermolysis Bullosa.
Neumayer G et al.
Nature Communications, 2024
38992003 (PubMed )
Supplement: 41467_2024_49400_MOESM8_ESM.zip › Source_Data › Figure_4 › Figure_4H › Figure_4H.xlsx › CO1-173_iSC
Neuroblastoma Risk Assessment and Treatment Stratification with Hybrid Capture-Based Panel Sequencing.
Szymansky A et al.
Journal of Personalized Medicine, 2021
34442335 (PubMed )
Supplement: jpm-11-00691-s001.zip › S15-SNVs_routine_cohort.xlsx › SNVs_Bigcohort
First case report of a NUP98-PMX1 rearrangement in de novo acute myeloid leukemia and literature review.
Fu W et al.
Bmc Medical Genomics, 2021
34001105 (PubMed )
Supplement: 12920_2021_979_MOESM2_ESM.xlsx › data
In-silico Analysis of NF1 Missense Variants in ClinVar: Translating Variant Predictions into Variant Interpretation and Classification.
Accetturo M et al.
International Journal of Molecular Sciences, 2020
31979111 (PubMed )
Supplement: ijms-21-00721-s001.zip › ijms-614345-supplementary_files › Supplementary_Table_S3.xlsx › Suppl._Table_S3
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