Associated Papers
Prevalence and clinical relavance of germline mutations in Chinese patients with pancreatic cancer.
Jiang Y et al.
Cell Communication and Signaling : Ccs, 2025
40544258 (PubMed )
Supplement: 12964_2025_2281_MOESM1_ESM.xlsx › RJ.P_LP.germline.final
Molecular insights into genodermatoses: Genetic findings from 43 patients.
Sama AD et al.
Archives of Dermatological Research, 2025
Comprehensive study of gene fusions in sarcomas.
Chen N et al.
Investigational New Drugs, 2025
Genetic and clinical characteristics of genetic tumor syndromes in the central nervous system cancers: Implications for clinical practice.
Wang C et al.
Iscience, 2024
39493880 (PubMed )
Supplement: mmc2.xlsx › S2.GTS_patients_enrolled
Comprehensive Study of Germline Mutations and Double-Hit Events in Esophageal Squamous Cell Cancer.
Zeng B et al.
Frontiers in Oncology, 2021
Molecular Mechanisms of the RECQ4 Pathogenic Mutations.
Xu X et al.
Frontiers in Molecular Biosciences, 2021
PEDIA: prioritization of exome data by image analysis.
Hsieh TC et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2019
31164752 (PubMed )
Supplement: 41436_2019_566_MOESM2_ESM.xlsx › Sheet1
Enrichment of heterozygous germline RECQL4 loss-of-function variants in pediatric osteosarcoma.
Maciaszek JL et al.
Cold Spring Harbor Molecular Case Studies, 2019
31604778 (PubMed )
Supplement: supp_mcs.a004218_Supplemental_Tables.xlsx › Table_S4
Multigene panel testing beyond BRCA1/2 in breast/ovarian cancer Spanish families and clinical actionability of findings.
Bonache S et al.
Journal of Cancer Research and Clinical Oncology, 2018
Rothmund-Thomson Syndrome: Insights from New Patients on the Genetic Variability Underpinning Clinical Presentation and Cancer Outcome.
Colombo EA et al.
International Journal of Molecular Sciences, 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
Novel physiological RECQL4 alternative transcript disclosed by molecular characterisation of Rothmund-Thomson Syndrome sibs with mild phenotype.
Colombo EA et al.
European Journal of Human Genetics : Ejhg, 2014
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