Associated Papers
A method to comprehensively identify germline SNVs, INDELs and CNVs from whole exome sequencing data of BRCA1/2 negative breast cancer patients.
Bianchi A et al.
Nar Genomics and Bioinformatics, 2024
38633426 (PubMed )
Supplement: lqae033_supplemental_files.zip › Supplementary_Table_1.xlsx › Supplementary_Table_1
The landscape of rare genetic variants in familial Waldenström macroglobulinemia.
Pemov A et al.
Blood Neoplasia, 2024
39036705 (PubMed )
Supplement: BNEO_NEO-2023-000111-mmc8.xlsx › Supplementary_Table_7C
A recurrent ZP1 variant is responsible for oocyte maturation defect with degenerated oocytes in infertile females.
Loeuillet C et al.
Clinical Genetics, 2022
35460069 (PubMed )
Supplement: CGE-102-22-s001.xlsx › Feuil1
A rare loss-of-function genetic mutation suggest a role of dermcidin deficiency in hidradenitis suppurativa pathogenesis.
Tricarico PM et al.
Frontiers in Immunology, 2022
36544771 (PubMed )
Supplement: Table_1.xlsx › Foglio1
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