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-mmc4.xlsx › Supplementary_Table_4
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
Parent-of-origin specific linkage and association of the IGF2 gene region with birth weight and adult metabolic risk factors.
Souren NY et al.
International Journal of Obesity (2005), 2009
Single nucleotide polymorphisms in the EXO1 gene and risk of colorectal cancer in a Japanese population.
Yamamoto H et al.
Carcinogenesis, 2005
Positive associations between single nucleotide polymorphisms in the IGF2 gene region and body mass index in adult males.
Gaunt TR et al.
Human Molecular Genetics, 2001
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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