Associated Papers
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
37007936 (PubMed )
Supplement: Table3.XLSX › Sheet1
Clinical pharmacogenetic analysis in 5,001 individuals with diagnostic Exome Sequencing data.
Lanillos J et al.
Npj Genomic Medicine, 2022
35181665 (PubMed )
Supplement: 41525_2022_283_MOESM4_ESM.xlsx › Novel_Previously_described_var.
A Gly684Ala substitution in the androgen receptor is the cause for azoospermia in a Chinese family with mild androgen insensitivity syndrome and normal hormone levels.
Yuan Y et al.
Frontiers in Genetics, 2022
36159980 (PubMed )
Supplement: Table1.XLSX › SNP
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
Characterization of novel CTNNB1 mutation in Craniopharyngioma by whole-genome sequencing.
He J et al.
Molecular Cancer, 2021
34922552 (PubMed )
Supplement: 12943_2021_1468_MOESM6_ESM.xlsx › Table_S5
Whole-Exome Sequencing in Papillary Microcarcinoma: Potential Early Biomarkers of Lateral Lymph Node Metastasis.
Kim M et al.
Endocrinology and Metabolism (seoul, Korea), 2021
34731936 (PubMed )
Supplement: enm-2021-1132-suppl2.pdf
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
33424349 (PubMed )
Supplement: mmc1.xlsx › Sheet1
Familial Temperature-Sensitive Auditory Neuropathy: Distinctive Clinical Courses Caused by Variants of the OTOF Gene.
Zhu YM et al.
Frontiers in Cell and Developmental Biology, 2021
34692690 (PubMed )
Supplement: Table_2.xlsx › Supplementary_Table_7
Genomic and transcriptomic profiling of carcinogenesis in patients with familial adenomatous polyposis.
Li J et al.
Gut, 2020
31744909 (PubMed )
Supplement: gutjnl-2019-319438supp006.xlsx › All_Somatic_mutations__CRC_
Identification of somatic alterations in lipoma using whole exome sequencing.
Kanojia D et al.
Scientific Reports, 2019
31591430 (PubMed )
Supplement: 41598_2019_50805_MOESM2_ESM.xlsx › SuppTable_11
Targeted next generation sequencing as a tool for precision medicine.
Gulilat M et al.
Bmc Medical Genomics, 2019
31159795 (PubMed )
Supplement: 12920_2019_527_MOESM1_ESM.xlsx › Table_S6
Mutational signatures and the genomic landscape of betel quid chewing-associated tongue carcinoma.
Zhang W et al.
Cancer Medicine, 2019
30672146 (PubMed )
Supplement: CAM4-8-701-s012.xlsx › Table_S11
Recurrent homozygous deletion of DROSHA and microduplication of PDE4DIP in pineoblastoma.
Snuderl M et al.
Nature Communications, 2018
30030436 (PubMed )
Supplement: 41467_2018_5029_MOESM1_ESM.pdf
Vemurafenib-resistance via de novo RBM genes mutations and chromosome 5 aberrations is overcome by combined therapy with palbociclib in thyroid carcinoma with BRAFV600E.
Antonello ZA et al.
Oncotarget, 2017
29156680 (PubMed )
Supplement: oncotarget-08-84743-s004.xls › Sheet1
MUG-Mel2, a novel highly pigmented and well characterized NRAS mutated human melanoma cell line.
Rinner B et al.
Scientific Reports, 2017
28522871 (PubMed )
Supplement: 41598_2017_2197_MOESM1_ESM.pdf
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
27791198 (PubMed )
Supplement: oncotarget-07-77163-s002.xlsx › Patient_3_late_met_2
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
27900369 (PubMed )
Supplement: supp_mcs.a001263_SuppTable_S3.xlsx › Supplementary_Table_S3_A
Two classes of intrahepatic cholangiocarcinoma defined by relative abundance of mutations and copy number alterations.
Kim YH et al.
Oncotarget, 2016
27009864 (PubMed )
Supplement: oncotarget-07-23825-s001.pdf
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