Associated Papers
Whole-Genome Landscape of Retinal Hemangioblastomas.
Bals K et al.
Translational Vision Science & Technology, 2026
The pharmacogenomic landscape in the Chinese: An analytics of pharmacogenetic variants in 206,640 individuals.
Wang LY et al.
Innovation (cambridge (mass.)), 2025
PharmVar GeneFocus: CYP4F2.
Zubiaur P et al.
Clinical Pharmacology and Therapeutics, 2024
Genetic analysis and prenatal diagnosis of short-rib thoracic dysplasia 3 with or without polydactyly caused by compound heterozygous variants of DYNC2H1 gene in four Chinese families.
Fang Y et al.
Frontiers in Genetics, 2023
Genomic characterization of lymphomas in patients with inborn errors of immunity.
Ye X et al.
Blood Advances, 2022
Clinical pharmacogenetic analysis in 5,001 individuals with diagnostic Exome Sequencing data.
Lanillos J et al.
Npj Genomic Medicine, 2022
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
Whole-Exome Sequencing in Papillary Microcarcinoma: Potential Early Biomarkers of Lateral Lymph Node Metastasis.
Kim M et al.
Endocrinology and Metabolism (seoul, Korea), 2021
Decoding variants in drug-metabolizing enzymes and transporters in solid tumor patients by whole-exome sequencing.
Aboul-Soud MAM et al.
Saudi Journal of Biological Sciences, 2021
Targeted next generation sequencing as a tool for precision medicine.
Gulilat M et al.
Bmc Medical Genomics, 2019
A novel role for CRIM1 in the corneal response to UV and pterygium development.
Maurizi E et al.
Experimental Eye Research, 2019
Mutation analysis of adenomas and carcinomas of the colon: Early and late drivers.
Wolff RK et al.
Genes, Chromosomes & Cancer, 2018
Recurrent hotspot mutations in HRAS Q61 and PI3K-AKT pathway genes as drivers of breast adenomyoepitheliomas.
Geyer FC et al.
Nature Communications, 2018
MUG-Mel2, a novel highly pigmented and well characterized NRAS mutated human melanoma cell line.
Rinner B et al.
Scientific Reports, 2017
Co-existence of BRAF and NRAS driver mutations in the same melanoma cells results in heterogeneity of targeted therapy resistance.
Raaijmakers MI et al.
Oncotarget, 2016
Genomic profiling of multiple sequentially acquired tumor metastatic sites from an "exceptional responder" lung adenocarcinoma patient reveals extensive genomic heterogeneity and novel somatic variants driving treatment response.
Biswas R et al.
Cold Spring Harbor Molecular Case Studies, 2016
Single-cell mRNA sequencing identifies subclonal heterogeneity in anti-cancer drug responses of lung adenocarcinoma cells.
Kim KT et al.
Genome Biology, 2015
A G613A missense in the Hutchinson's progeria lamin A/C gene causes a lone, autosomal dominant atrioventricular block.
Villa F et al.
Immunity & Ageing : I & A, 2014