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
The clinical spectrum associated with ERCC5 mutations: Is there a relationship between phenotype and genotype?
Zhang J et al.
Pediatric Discovery, 2024
Study of sex-biased differences in genomic profiles in East Asian hepatocellular carcinoma.
Huang CY et al.
Discover Oncology, 2024
38981878 (PubMed )
Supplement: 12672_2024_1131_MOESM2_ESM.xlsx › Mutation
Distinct landscapes of deleterious variants in DNA damage repair system in ethnic human populations.
Qin Z et al.
Life Science Alliance, 2022
35595529 (PubMed )
Supplement: LSA-2021-01319_TableS1.xlsx › Sheet_1
XPG: a multitasking genome caretaker.
Muniesa-Vargas A et al.
Cellular and Molecular Life Sciences : Cmls, 2022
Genetic alterations and their therapeutic implications in epithelial ovarian cancer.
Lapke N et al.
Bmc Cancer, 2021
33947352 (PubMed )
Supplement: 12885_2021_8233_MOESM5_ESM.xlsx › Additional_file_5
Prenatal findings of cataract and arthrogryposis: recurrence of cerebro-oculo-facio-skeletal syndrome and review of differential diagnosis.
Sirchia F et al.
Bmc Medical Genomics, 2021
Rapid whole exome sequencing in pregnancies to identify the underlying genetic cause in fetuses with congenital anomalies detected by ultrasound imaging.
Deden C et al.
Prenatal Diagnosis, 2020
Accurate detection of clinically relevant uniparental disomy from exome sequencing data.
Yauy K et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2020
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