Associated Papers
A retrospective single-center pilot study of the genetic background of the transplanted kidney.
Novotna A et al.
Plos One, 2025
39777909 (PubMed )
Supplement: pone.0316192.s002.xlsx › List1
Identification of novel variants underlying non-syndromic primary ovarian insufficiency using a targeted NGS gene panel.
Veneziano C et al.
Frontiers in Endocrinology, 2025
41458559 (PubMed )
Supplement: Table4.xlsx › sheet1
Comprehensive Genomic Profiling Alters Clinical Diagnoses in a Significant Fraction of Tumors Suspicious of Sarcoma.
Öfverholm I et al.
Clinical Cancer Research : an Official Journal of the American Association for Cancer Research, 2024
38573684 (PubMed )
Supplement: ccr-24-0384_supplementary_data_6_suppts6.xlsx › Sheet1
Germline mutations in pediatric cancer cohort with mixed-ancestry Mexicans.
Alonso-Luna O et al.
Molecular Genetics & Genomic Medicine, 2024
38093606 (PubMed )
Supplement: MGG3-12-e2332-s001.xlsx › Trios_
Determination of genetic predisposition to early breast cancer in women of Kazakh ethnicity.
Zhunussova G et al.
Oncotarget, 2023
37791908 (PubMed )
Supplement: oncotarget-14-28518-s004.xlsx › Supplementary_Table_3
Unraveling the Genetic Architecture of Hepatoblastoma Risk: Birth Defects and Increased Burden of Germline Damaging Variants in Gastrointestinal/Renal Cancer Predisposition and DNA Repair Genes.
Aguiar T et al.
Frontiers in Genetics, 2022
Pathogenicity assessment of variants for breast cancer susceptibility genes based on BRCAness of tumor sample.
Yoshida R et al.
Cancer Science, 2021
33421217 (PubMed )
Supplement: CAS-112-1310-s002.xlsx › ____
Analysis of Sequence and Copy Number Variants in Canadian Patient Cohort With Familial Cancer Syndromes Using a Unique Next Generation Sequencing Based Approach.
Bhai P et al.
Frontiers in Genetics, 2021
34326862 (PubMed )
Supplement: Data_Sheet_1.zip › Supplementary_files › Supplementary_Table_S4.xlsx › Variant_summary
A comprehensive custom panel evaluation for routine hereditary cancer testing: improving the yield of germline mutation detection.
Velázquez C et al.
Journal of Translational Medicine, 2020
32522261 (PubMed )
Supplement: 12967_2020_2391_MOESM1_ESM.xlsx › Sup1
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
Rare variants in Fanconi anemia genes are enriched in acute myeloid leukemia.
Maung KZY et al.
Blood Cancer Journal, 2018
29891941 (PubMed )
Supplement: 41408_2018_90_MOESM2_ESM.xlsx › Supplementary_Table_S2
FANCM and RECQL genetic variants and breast cancer susceptibility: relevance to South Poland and West Ukraine.
Nguyen-Dumont T et al.
Bmc Medical Genetics, 2018
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
Germ-line variants identified by next generation sequencing in a panel of estrogen and cancer associated genes correlate with poor clinical outcome in Lynch syndrome patients.
Jóri B et al.
Oncotarget, 2015
26517685 (PubMed )
Supplement: oncotarget-06-41108-s004.xlsx › Suppl._Table_3_-_all_variants
De novo mutations in moderate or severe intellectual disability.
Hamdan FF et al.
Plos Genetics, 2014
25356899 (PubMed )
Supplement: pgen.1004772.s004.xlsx › 838.321
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