Associated Papers
Identification of novel variants underlying non-syndromic primary ovarian insufficiency using a targeted NGS gene panel.
Veneziano C et al.
Frontiers in Endocrinology, 2025
41458559 (PubMed )
Supplement: Table4.xlsx › sheet1
Comprehensive genetic profiling and molecularly guided treatment for patients with primary CNS tumors.
Kuehn JC et al.
Npj Precision Oncology, 2024
39143272 (PubMed )
Supplement: 41698_2024_674_MOESM2_ESM.xlsx › Supplementary_Data_3
Whole exome sequencing of 28 families of Danish descent reveals novel candidate genes and pathways in developmental dysplasia of the hip.
Dembic M et al.
Molecular Genetics and Genomics : Mgg, 2023
36454308 (PubMed )
Supplement: 438_2022_1980_MOESM4_ESM.xlsx › List_of_variants
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
Circulating Tumor DNA as a Biomarker of Radiographic Tumor Burden in SCLC.
Smith JT et al.
Jto Clinical and Research Reports, 2021
34589992 (PubMed )
Supplement: mmc4.xlsx › Sheet1
The mutational repertoire of uterine sarcomas and carcinosarcomas in a Brazilian cohort: A preliminary study.
da Costa LT et al.
Clinics (sao Paulo, Brazil), 2021
Development and validation of a multigene variant profiling assay to guide targeted and immuno therapy selection in solid tumors.
Akolkar D et al.
Plos One, 2021
33556149 (PubMed )
Supplement: pone.0246048.s008.xlsx › Sheet1
Comprehensive Custom NGS Panel Validation for the Improvement of the Stratification of B-Acute Lymphoblastic Leukemia Patients.
Montaño A et al.
Journal of Personalized Medicine, 2020
32967112 (PubMed )
Supplement: jpm-10-00137-s001.pdf
Activating mutations in CSF1R and additional receptor tyrosine kinases in histiocytic neoplasms.
Durham BH et al.
Nature Medicine, 2019
31768065 (PubMed )
Supplement: NIHMS1541330-supplement-1.pdf
Baseline Genomic Features in BRAFV600-Mutated Metastatic Melanoma Patients Treated with BRAF Inhibitor + MEK Inhibitor in Routine Care.
Louveau B et al.
Cancers, 2019
31426590 (PubMed )
Supplement: cancers-11-01203-s001.pdf
Comprehensive characterization of the mutational landscape in multiple myeloma cell lines reveals potential drivers and pathways associated with tumor progression and drug resistance.
Vikova V et al.
Theranostics, 2019
30809292 (PubMed )
Supplement: thnov09p0540s1.pdf
High-frequency actionable pathogenic exome variants in an average-risk cohort.
Rego S et al.
Cold Spring Harbor Molecular Case Studies, 2018
30487145 (PubMed )
Supplement: supp_mcs.a003178_Supplemental_File_3.xlsx › Sheet1
Diagnosis of monogenic liver diseases in childhood by next-generation sequencing.
Stalke A et al.
Clinical Genetics, 2018
Germline mutations in candidate predisposition genes in individuals with cutaneous melanoma and at least two independent additional primary cancers.
Pritchard AL et al.
Plos One, 2018
29641532 (PubMed )
Supplement: pone.0194098.s003.xlsx › MultCaCa_OtherCG
Integrated analysis of germline and somatic variants in ovarian cancer.
Kanchi KL et al.
Nature Communications, 2014
Rare variants in CFI, C3 and C9 are associated with high risk of advanced age-related macular degeneration.
Seddon JM et al.
Nature Genetics, 2013
24036952 (PubMed )
Supplement: NIHMS512112-supplement-2.xlsx › Supplementary_Table_2B
Select a paper to view details