Associated Papers
Zinner syndrome: report of a case and whole exome sequencing.
He J et al.
Basic and Clinical Andrology, 2025
Patient tissue-derived FGFR4-variant and wild-type colorectal cancer organoid development and anticancer drug sensitivity testing.
Lin H et al.
Heliyon, 2024
38826758 (PubMed )
Supplement: mmc1.xlsx › Supplementary_Table_1
Combining germline, tissue and liquid biopsy analysis by comprehensive genomic profiling to improve the yield of actionable variants in a real-world cancer cohort.
Vanni I et al.
Journal of Translational Medicine, 2024
38750555 (PubMed )
Supplement: 12967_2024_5227_MOESM15_ESM.xlsx › S15
PSEN2 Thr421Met Mutation in a Patient with Early Onset Alzheimer's Disease.
Yang Y et al.
International Journal of Molecular Sciences, 2022
36362122 (PubMed )
Supplement: ijms-23-13331-s001.zip › ijms-1932674-supplementary.pdf
Cancer genomic profiling identified dihydropyrimidine dehydrogenase deficiency in bladder cancer promotes sensitivity to gemcitabine.
Tsukahara S et al.
Scientific Reports, 2022
35595780 (PubMed )
Supplement: 41598_2022_12528_MOESM2_ESM.pdf
Hereditable variants of classical protein tyrosine phosphatase genes: Will they prove innocent or guilty?
Hendriks WJAJ et al.
Frontiers in Cell and Developmental Biology, 2022
36755664 (PubMed )
Supplement: Table1.XLSX › Suppl_Table_1
Early-onset Alzheimer's disease patient with prion (PRNP) p.Val180Ile mutation.
Bagyinszky E et al.
Neuropsychiatric Disease and Treatment, 2019
Profiling cancer-related gene mutations in oral squamous cell carcinoma from Japanese patients by targeted amplicon sequencing.
Nakagaki T et al.
Oncotarget, 2017
28938622 (PubMed )
Supplement: oncotarget-08-59113-s006.xlsx › Table_S5
Tobacco habituated and non-habituated subjects exhibit different mutational spectrums in head and neck squamous cell carcinoma.
Rawal RM et al.
3 Biotech, 2015
Analysis of functional GLO1 variants in the BTBD9 locus and restless legs syndrome.
Gan-Or Z et al.
Sleep Medicine, 2015
PTPRD is homozygously deleted and epigenetically downregulated in human hepatocellular carcinomas.
Acun T et al.
Omics : a Journal of Integrative Biology, 2015
Molecular diagnostics of a single drug-resistant multiple myeloma case using targeted next-generation sequencing.
Ikeda H et al.
Oncotargets and Therapy, 2015
Angiomatous meningiomas have a distinct genetic profile with multiple chromosomal polysomies including polysomy of chromosome 5.
Abedalthagafi MS et al.
Oncotarget, 2014
25347344 (PubMed )
Supplement: oncotarget-05-10596-s002.xlsx › Table_S4
Case-Control and Family-Based Association Study of Specific PTPRD Variants in Restless Legs Syndrome.
Gan-Or Z et al.
Movement Disorders Clinical Practice, 0
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