Associated Papers
A Tiered Approach to Exome Sequencing Analysis in Early-Onset Primary Ovarian Insufficiency.
McGlacken-Byrne SM et al.
The Journal of Clinical Endocrinology and Metabolism, 2025
An Analysis of Genetic Polymorphisms in 76 Genes Related to the Development of Ovarian Tumors of Different Aggressiveness.
Szafron LA et al.
International Journal of Molecular Sciences, 2024
39456660 (PubMed )
Supplement: ijms-25-10876-s001.zip › Supplement-variants.xlsx › 44.genes.SNP_all_variants
Real-world performance analysis of a novel computational method in the precision oncology of pediatric tumors.
Vodicska B et al.
World Journal of Pediatrics : Wjp, 2023
36914906 (PubMed )
Supplement: 12519_2023_700_MOESM1_ESM.xlsx › Driver_list
RosettaDDGPrediction for high-throughput mutational scans: From stability to binding.
Sora V et al.
Protein Science : a Publication of the Protein Society, 2023
36461907 (PubMed )
Supplement: PRO-32-e4527-s003.pdf
Investigation of monogenic causes of familial breast cancer: data from the BEACCON case-control study.
Li N et al.
Npj Breast Cancer, 2021
34117267 (PubMed )
Supplement: 41523_2021_279_MOESM2_ESM.xlsx › Supp._Table_4b_Recurrent_MS
Exploring the Role of Mutations in Fanconi Anemia Genes in Hereditary Cancer Patients.
Del Valle J et al.
Cancers, 2020
32235514 (PubMed )
Supplement: cancers-12-00829-s001.zip › cancers-727310-supplementary › Table_S3.xlsx › Supplementary_Table_3
Challenges in reporting pathogenic/potentially pathogenic variants in 94 cancer predisposing genes - in pediatric patients screened with NGS panels.
Chirita-Emandi A et al.
Scientific Reports, 2020
31937788 (PubMed )
Supplement: 41598_2019_57080_MOESM2_ESM.xlsx › candidate_variants
Germline mutations in candidate predisposition genes in individuals with cutaneous melanoma and at least two independent additional primary cancers.
Pritchard AL et al.
Plos One, 2018
29641532 (PubMed )
Supplement: pone.0194098.s003.xlsx › UK10K_AR
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