Associated Papers
Genomic profiling in hepatocellular carcinoma: a real-world retrospective analysis.
Salani F et al.
Esmo Open, 2025
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Supplement: mmc4.xlsx › Table_S10B
Prevalence and spectrum of cancer predisposition germline mutations in young patients with the common late-onset cancers.
Hao S et al.
Cancer Medicine, 2023
37610374 (PubMed )
Supplement: CAM4-12-18394-s002.xlsx › Somatic_variants
Implementation of paediatric precision oncology into clinical practice: The Individualized Therapies for Children with cancer program 'iTHER'.
Langenberg KPS et al.
European Journal of Cancer (oxford, England : 1990), 2022
36182817 (PubMed )
Supplement: mmc6.xlsx › Sheet1
Performance Evaluation of SpliceAI for the Prediction of Splicing of NF1 Variants.
Ha C et al.
Genes, 2021
34573290 (PubMed )
Supplement: genes-12-01308-s001.zip › Table_S1.xlsx › NF1_Variants
Investigation of PALB2 Mutation and Correlation With Immunotherapy Biomarker in Chinese Non-Small Cell Lung Cancer Patients.
Zhang J et al.
Frontiers in Oncology, 2021
35087742 (PubMed )
Supplement: Table_2.xlsx › Sheet1
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
Molecular Characterization of NF1 and Neurofibromatosis Type 1 Genotype-Phenotype Correlations in a Chinese Population.
Zhang J et al.
Scientific Reports, 2015
26056819 (PubMed )
Supplement: srep11291-s1.pdf
Bioinformatic Challenges in Clinical Diagnostic Application of Targeted Next Generation Sequencing: Experience from Pheochromocytoma.
Crona J et al.
Plos One, 2015
Phenotypic variability among café-au-lait macules in neurofibromatosis type 1.
Boyd KP et al.
Journal of the American Academy of Dermatology, 2010
Novel mutations involving the NF1 gene coding sequence in neurofibromatosis type 1 patients from Taiwan.
Liu MT et al.
Journal of Human Genetics, 2003
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