Associated Papers
Comprehensive Evaluation of a 1021-Gene Panel in FFPE and Liquid Biopsy for Analytical and Clinical Use.
Meintani A et al.
International Journal of Molecular Sciences, 2025
40649709 (PubMed )
Supplement: ijms-26-05930-s001.zip › Supplementary_Table_2_and_Figure_S1.xlsx › Table_S3
Molecular and immunophenotypic characterization of SMARCB1 (INI1) - deficient intrathoracic Neoplasms.
Haberecker M et al.
Modern Pathology : an Official Journal of the United States and Canadian Academy of Pathology, Inc, 2022
35864317 (PubMed )
Supplement: 41379_2022_1133_MOESM1_ESM.pdf
Molecular profiling of male breast cancer by multigene panel testing: Implications for precision oncology.
Valentini V et al.
Frontiers in Oncology, 2022
36686738 (PubMed )
Supplement: Table_3.xlsx › Foglio1
Alignment-free method for functional annotation of amino acid substitutions: Application on epigenetic factors involved in hematologic malignancies.
Gemović B et al.
Plos One, 2021
33395407 (PubMed )
Supplement: pone.0244948.s001.pdf
Comprehensive Analysis of PTEN in Primary Cutaneous Melanoma.
Němejcová K et al.
Folia Biologica, 2020
A comprehensive evaluation of pathogenic mutations in primary cutaneous melanomas, including the identification of novel loss-of-function variants.
Ticha I et al.
Scientific Reports, 2019
The evolutionary pattern of mutations in glioblastoma reveals therapy-mediated selection.
Muscat AM et al.
Oncotarget, 2018
29487696 (PubMed )
Supplement: oncotarget-09-7844-s003.xlsx › Supplementary_Table_S2
B3GALNT2 mutations associated with non-syndromic autosomal recessive intellectual disability reveal a lack of genotype-phenotype associations in the muscular dystrophy-dystroglycanopathies.
Maroofian R et al.
Genome Medicine, 2017
Enrichment of Targetable Mutations in the Relapsed Neuroblastoma Genome.
Padovan-Merhar OM et al.
Plos Genetics, 2016
27997549 (PubMed )
Supplement: pgen.1006501.s002.xlsx › Sheet1
Exome sequencing reveals frequent inactivating mutations in ARID1A, ARID1B, ARID2 and ARID4A in microsatellite unstable colorectal cancer.
Cajuso T et al.
International Journal of Cancer, 2014
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