Associated Papers
Tumor DNA from tumor in situ fluid was used to track evolution of glioma under first-line treatment.
Yu J et al.
Frontiers in Oncology, 2025
41179686 (PubMed )
Supplement: Table2.xls › Sheet1
Whole Exome Sequencing of a Patient with a Milder Phenotype of Xeroderma Pigmentosum Group C.
Seo JI et al.
Medicina (kaunas, Lithuania), 2023
Chromothripsis is a frequent event and underlies typical genetic changes in early T-cell precursor lymphoblastic leukemia in adults.
Arniani S et al.
Leukemia, 2022
35974102 (PubMed )
Supplement: 41375_2022_1671_MOESM2_ESM.xlsx › Table_18
Poikiloderma with neutropenia: An alternate presentation with dyspigmentation and novel USB1 mutation.
Peterson MY et al.
Pediatric Dermatology, 2022
Identification of New Tumor-Related Gene Mutations in Chinese Gastrointestinal Stromal Tumors.
Feng Y et al.
Frontiers in Cell and Developmental Biology, 2021
34805171 (PubMed )
Supplement: Table6.XLS › 49_sample_result
A deep analysis using panel-based next-generation sequencing in an Ecuadorian pediatric patient with anaplastic astrocytoma: a case report.
García-Cárdenas JM et al.
Journal of Medical Case Reports, 2020
32867815 (PubMed )
Supplement: 13256_2020_2451_MOESM1_ESM.xlsx › SPC35
Somatic mutations in the DNA repairome in prostate cancers in African Americans and Caucasians.
Yadav S et al.
Oncogene, 2020
32300177 (PubMed )
Supplement: 41388_2020_1280_MOESM3_ESM.xlsx › Main_Sheet_
Identification of novel compound heterozygous SPG7 mutations-related hereditary spastic paraplegia in a Chinese family: a case report.
Zhang X et al.
Bmc Neurology, 2018
30497413 (PubMed )
Supplement: 12883_2018_1199_MOESM5_ESM.xlsx › Supplementary_Table_5_The_index
Validation of CZECANCA (CZEch CAncer paNel for Clinical Application) for targeted NGS-based analysis of hereditary cancer syndromes.
Soukupova J et al.
Plos One, 2018
29649263 (PubMed )
Supplement: pone.0195761.s003.xlsx › S3
Polymorphisms in nucleotide excision repair genes and susceptibility to colorectal cancer in the Polish population.
Paszkowska-Szczur K et al.
Molecular Biology Reports, 2015
Common variants of xeroderma pigmentosum genes and prostate cancer risk.
Mirecka A et al.
Gene, 2014
Xeroderma pigmentosum genes and melanoma risk.
Paszkowska-Szczur K et al.
International Journal of Cancer, 2013
Single-nucleotide polymorphisms in DNA repair genes and association with breast cancer risk in the web study.
Roberts MR et al.
Carcinogenesis, 2011
A prevalent mutation with founder effect in xeroderma pigmentosum group C from north Africa.
Soufir N et al.
The Journal of Investigative Dermatology, 2010
A novel XPC pathogenic variant detected in archival material from a patient diagnosed with Xeroderma Pigmentosum: a case report and review of the genetic variants reported in XPC.
Rivera-Begeman A et al.
Dna Repair, 2007
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