Associated Papers
A genotype-first approach identifies high incidence of NF1 pathogenic variants with distinct disease associations.
Safonov A et al.
Nature Communications, 2025
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Supplement: 41467_2025_57077_MOESM3_ESM.xlsx › Supplementary_Data_2
Prospective genomically guided identification of "early/evolving" and "undersampled" IDH-wildtype glioblastoma leads to improved clinical outcomes.
Zhang Y et al.
Neuro-oncology, 2022
35395677 (PubMed )
Supplement: noac089_suppl_supplementary_tables_s1-s11.xlsx › Table_S5_SNV_data
Recurrent NF1 gene variants and their genotype/phenotype correlations in patients with Neurofibromatosis type I.
Riva M et al.
Genes, Chromosomes & Cancer, 2022
Genomic landscape of lung cancer in the young.
Ruiz R et al.
Frontiers in Oncology, 2022
36263208 (PubMed )
Supplement: DataSheet_2.pdf
Gastric Cancer in BRCA1 Germline Mutation Carriers: Results of Endoscopic Screening and Molecular Analysis of Tumor Tissues.
Avanesyan AA et al.
Pathobiology : Journal of Immunopathology, Molecular and Cellular Biology, 2020
A clinical survey of mosaic single nucleotide variants in disease-causing genes detected by exome sequencing.
Cao Y et al.
Genome Medicine, 2019
Whole exome sequencing in 342 congenital cardiac left sided lesion cases reveals extensive genetic heterogeneity and complex inheritance patterns.
Li AH et al.
Genome Medicine, 2017
29089047 (PubMed )
Supplement: 13073_2017_482_MOESM6_ESM.xlsx › TableS5-_ClinicalCohortLookup
Pheochromocytomas are diagnosed incidentally and at older age in neurofibromatosis type 1.
Moramarco J et al.
Clinical Endocrinology, 2017
Genetic profiles of cervical tumors by high-throughput sequencing for personalized medical care.
Muller E et al.
Cancer Medicine, 2015
26155992 (PubMed )
Supplement: cam40004-1484-sd2.xlsx › supplementaryTab_S2
Identification of forty-five novel and twenty-three known NF1 mutations in Chinese patients with neurofibromatosis type 1.
Lee MJ et al.
Human Mutation, 2006
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