Associated Papers
Molecular Determinants of the Human Retinal Pigment Epithelium Cell Fate and Potential Pharmacogenomic Targets for Precision Medicine.
Zibetti C
International Journal of Molecular Sciences, 2025
40565279 (PubMed )
Supplement: ijms-26-05817-s001.zip › Table_S1_NGS_qc_and_WES_April2025_2_.xlsx › D2_hiPSCsvsPBMC_SNPs_InDels
Investigation of Exome-Wide Tumor Heterogeneity on Colorectal Tissue-Based Single Cells.
Szakállas N et al.
International Journal of Molecular Sciences, 2025
Protocol optimization of a targeted sequencing panel for genomic profiling of bronchoalveolar lavage fluid in lung cancer.
Sather CL et al.
Cancer Medicine, 2023
37587851 (PubMed )
Supplement: CAM4-12-17632-s002.xlsx › S11.HighCovVariantsSurvPanel
Molecular Portrait of GISTs Associated With Clinicopathological Features: A Retrospective Study With Molecular Analysis by a Custom 9-Gene Targeted Next-Generation Sequencing Panel.
Qian H et al.
Frontiers in Genetics, 2022
35547262 (PubMed )
Supplement: DataSheet1.xlsx › Table_S2
Case report: Two unique nonsense mutations in HTRA1-related cerebral small vessel disease in a Chinese population and literature review.
Chen W et al.
Frontiers in Neurology, 2022
36619910 (PubMed )
Supplement: Data_Sheet_6.ZIP › case2-C › 3.________ › CA2275B________.____Exonic_Variants.xlsx › sheet1
First case report of a NUP98-PMX1 rearrangement in de novo acute myeloid leukemia and literature review.
Fu W et al.
Bmc Medical Genomics, 2021
34001105 (PubMed )
Supplement: 12920_2021_979_MOESM2_ESM.xlsx › data
Intraventricular meningiomas frequently harbor NF2 mutations but lack common genetic alterations in TRAF7, AKT1, SMO, KLF4, PIK3CA, and TERT.
Jungwirth G et al.
Acta Neuropathologica Communications, 2019
31470906 (PubMed )
Supplement: 40478_2019_793_MOESM1_ESM.xlsx › MPILEUP_SNP
Detailed overview on the mutations detected by and the sensitivity of the GeneReader NGS sequencing platform.
Lüsebrink J et al.
Data in Brief, 2018
Targeted exome sequencing reveals distinct pathogenic variants in Iranians with colorectal cancer.
Ashktorab H et al.
Oncotarget, 2017
28002797 (PubMed )
Supplement: oncotarget-08-7852-s002.xlsx › BRAF.Illumina
The genetic heterogeneity and mutational burden of engineered melanomas in zebrafish models.
Yen J et al.
Genome Biology, 2013
24148783 (PubMed )
Supplement: gb-2013-14-10-r113-S1.xlsx › Table_S3
The RAS/MAPK syndromes: novel roles of the RAS pathway in human genetic disorders.
Aoki Y et al.
Human Mutation, 2008
No mutation in RAS-MAPK pathway genes in 30 patients with Kabuki syndrome.
Kuniba H et al.
American Journal of Medical Genetics. Part A, 2008
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