Associated Papers
DNA Methylation Array Analysis Identifies Biological Subgroups of Cutaneous Melanoma and Reveals Extensive Differences with Benign Melanocytic Nevi.
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Diagnostics (basel, Switzerland), 2025
40075779 (PubMed )
Supplement: diagnostics-15-00531-s001.zip › Supplementary_Data.xlsx › Mutations
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: Table5.xlsx › Patient_by_Patient_variants
Shifting the landscape: Dominant C-terminal rare missense FOXL2 variants in non-syndromic primary ovarian failure etiology.
Jordan P et al.
Clinical Genetics, 2024
The acquisition of molecular drivers in pediatric therapy-related myeloid neoplasms.
Schwartz JR et al.
Nature Communications, 2021
33579957 (PubMed )
Supplement: 41467_2021_21255_MOESM15_ESM.xlsx › Sup._Data_12_All.Germ.Muts.
Characterization of tumor mutation burden, PD-L1 and DNA repair genes to assess relationship to immune checkpoint inhibitors response in metastatic renal cell carcinoma.
Labriola MK et al.
Journal for Immunotherapy of Cancer, 2020
32221016 (PubMed )
Supplement: jitc-2019-000319supp001.xlsx › Supp_Table_1
A novel polyalanine expansion in FOXL2: the first evidence for a recessive form of the blepharophimosis syndrome (BPES) associated with ovarian dysfunction.
Nallathambi J et al.
Human Genetics, 2007
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