Associated Papers
The landscape of rare genetic variants in familial Waldenström macroglobulinemia.
Pemov A et al.
Blood Neoplasia, 2024
39036705 (PubMed )
Supplement: BNEO_NEO-2023-000111-mmc7.xlsx › Suppl_Table_6
Whole-Exome Sequencing Revealed New Candidate Genes for Human Dilated Cardiomyopathy.
D'Agostino Y et al.
Diagnostics (basel, Switzerland), 2022
36292100 (PubMed )
Supplement: diagnostics-12-02411-s001.zip › Supplementary_table_S3.xlsx › Foglio1
Population-based targeted sequencing of 54 candidate genes identifies PALB2 as a susceptibility gene for high-grade serous ovarian cancer.
Song H et al.
Journal of Medical Genetics, 2021
32546565 (PubMed )
Supplement: jmedgenet-2019-106739supp001.xlsx › Supp._Table_6
Whole-exome sequencing of non-BRCA1/BRCA2 mutation carrier cases at high-risk for hereditary breast/ovarian cancer.
Felicio PS et al.
Human Mutation, 2021
33326660 (PubMed )
Supplement: HUMU-42-290-s006.xlsx › Table_S4_-_VUS_identified_
NCOA3 identified as a new candidate to explain autosomal dominant progressive hearing loss.
Salazar-Silva R et al.
Human Molecular Genetics, 2021
33326993 (PubMed )
Supplement: supplementary_material_figure_legends_and_supplementary_tables_ddaa240.doc
Exome sequencing in families with chronic central serous chorioretinopathy.
Schellevis RL et al.
Molecular Genetics & Genomic Medicine, 2019
30724488 (PubMed )
Supplement: MGG3-7-na-s005.xlsx › Family_17
Deep multi-region whole-genome sequencing reveals heterogeneity and gene-by-environment interactions in treatment-naive, metastatic lung cancer.
Leong TL et al.
Oncogene, 2019
30348992 (PubMed )
Supplement: 41388_2018_536_MOESM5_ESM.xlsx › SNV_Indel
Genetic analysis of subsequent second primary malignant neoplasms in long-term pancreatic cancer survivors suggests new potential hereditary genetic alterations.
Lovecek M et al.
Cancer Management and Research, 2019
Systematic data-querying of large pediatric biorepository identifies novel Ehlers-Danlos Syndrome variant.
Desai A et al.
Bmc Musculoskeletal Disorders, 2016
Single nucleotide polymorphisms in the EXO1 gene and risk of colorectal cancer in a Japanese population.
Yamamoto H et al.
Carcinogenesis, 2005
Germline mutations of EXO1 gene in patients with hereditary nonpolyposis colorectal cancer (HNPCC) and atypical HNPCC forms.
Wu Y et al.
Gastroenterology, 2001
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