Associated Papers
Familial colorectal cancer: search for novel predisposition genes.
Försti A et al.
Human Genomics, 2025
Classification of Gene Variants in a Danish Population with Suspected Predisposition to Hereditary Breast and/or Ovarian Cancer.
Munch AK et al.
Cancers, 2025
40507299 (PubMed )
Supplement: cancers-17-01819-s001.zip › cancers-3594035-supplementary.pdf
The Potential of Genetics in Identifying Women at Lower Risk of Breast Cancer.
Bolze A et al.
Jama Oncology, 2024
38153744 (PubMed )
Supplement: jamaoncol-e235468-s002.xlsx › eTable_4
Uncovering the Contribution of Moderate-Penetrance Susceptibility Genes to Breast Cancer by Whole-Exome Sequencing and Targeted Enrichment Sequencing of Candidate Genes in Women of European Ancestry.
Dumont M et al.
Cancers, 2022
35884425 (PubMed )
Supplement: cancers-14-03363-s001.zip › Table_S3-final_16052022.xlsx › Table_S3B
Breast cancer risks associated with missense variants in breast cancer susceptibility genes.
Dorling L et al.
Genome Medicine, 2022
35585550 (PubMed )
Supplement: 13073_2022_1052_MOESM2_ESM.xlsx › Table_S14
MIS-C: A COVID-19-as sociated condition between hypoimmunity and hyperimmunity.
Gelzo M et al.
Frontiers in Immunology, 2022
36263058 (PubMed )
Supplement: Table_3.xlsx › Risultati
Pathogenic genetic variants from highly connected cancer susceptibility genes confer the loss of structural stability.
Reza MN et al.
Scientific Reports, 2021
34584144 (PubMed )
Supplement: 41598_2021_98547_MOESM1_ESM.zip › Supplementary_files-5-8-21 › Supplementary_file_5.xlsx › Sheet1
Neuroblastoma Risk Assessment and Treatment Stratification with Hybrid Capture-Based Panel Sequencing.
Szymansky A et al.
Journal of Personalized Medicine, 2021
34442335 (PubMed )
Supplement: jpm-11-00691-s001.zip › S15-SNVs_routine_cohort.xlsx › SNVs_Bigcohort
Unexpected cancer-predisposition gene variants in Cowden syndrome and Bannayan-Riley-Ruvalcaba syndrome patients without underlying germline PTEN mutations.
Yehia L et al.
Plos Genetics, 2018
29684080 (PubMed )
Supplement: pgen.1007352.s010.xlsx › S9_Table
Novel SMARCAL1 bi-allelic mutations associated with a chromosomal breakage phenotype in a severe SIOD patient.
Simon AJ et al.
Journal of Clinical Immunology, 2014
Idiopathic and radiation-induced ocular telangiectasia: the involvement of the ATM gene.
Mauget-Faÿsse M et al.
Investigative Ophthalmology & Visual Science, 2003
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