Associated Papers
Variant reclassification in cancer susceptibility genes and an updated variant spectrum of Turkish breast and colorectal cancer patients.
Can ND et al.
Human Genomics, 2026
41656315 (PubMed )
Supplement: 40246_2026_915_MOESM2_ESM.xlsx › VUS
Long-read sequencing identifies a novel de novo inversion in SMARCC2 in a pediatric patient with Coffin-siris syndrome 8: a case report.
Ibrahim AA et al.
Bmc Medical Genomics, 2025
High Prevalence of Potential Molecular Therapeutic Targets in Poorly Differentiated Thyroid Carcinoma.
Zambelli V et al.
Endocrine Pathology, 2025
41123735 (PubMed )
Supplement: 12022_2025_9883_MOESM4_ESM.xlsx › Foglio1
Genomic instability and CCNE1 amplification as emerging biomarkers for stratifying high-grade serous ovarian cancer.
Conca E et al.
Frontiers in Oncology, 2025
40842600 (PubMed )
Supplement: Table2.xlsx › Foglio1
Genomic architecture of autism spectrum disorder in Qatar: The BARAKA-Qatar Study.
Abdi M et al.
Genome Medicine, 2023
Detection of Germline Variants in 450 Breast/Ovarian Cancer Families with a Multi-Gene Panel Including Coding and Regulatory Regions.
Guglielmi C et al.
International Journal of Molecular Sciences, 2021
34299313 (PubMed )
Supplement: ijms-22-07693-s001.zip › ijms-1277723-supplementary.pdf
Co-occurrence of germline pathogenic variants for different hereditary cancer syndromes in patients with Lynch syndrome.
Ferrer-Avargues R et al.
Cancer Communications (london, England), 2021
33630411 (PubMed )
Supplement: CAC2-41-218-s001.xlsx › Table_S3_
MacroH2A histone variants limit chromatin plasticity through two distinct mechanisms.
Kozlowski M et al.
Embo Reports, 2018
Multigene testing of moderate-risk genes: be mindful of the missense.
Young EL et al.
Journal of Medical Genetics, 2016
26787654 (PubMed )
Supplement: jmedgenet-2015-103398-s2.pdf
Rare key functional domain missense substitutions in MRE11A, RAD50, and NBN contribute to breast cancer susceptibility: results from a Breast Cancer Family Registry case-control mutation-screening study.
Damiola F et al.
Breast Cancer Research : Bcr, 2014
24894818 (PubMed )
Supplement: bcr3669-S1.xlsx › MRN_Combi_Rare__0.1__
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