Associated Papers
Profiling genetic variants in cardiovascular disease genes among a Heterogeneous cohort of Mendelian conditions patients and electronic health records.
Akawi N et al.
Frontiers in Molecular Biosciences, 2024
39411402 (PubMed )
Supplement: Table1.XLSX › Supplemental_Table_S11
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
Tumor mutation burden and recurrent tumors in hereditary lung cancer.
Hsu YC et al.
Cancer Medicine, 2019
30941903 (PubMed )
Supplement: CAM4-8-2179-s001.xlsx › S2
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
Metaplastic breast cancer in a patient with neurofibromatosis type 1 and somatic loss of heterozygosity.
Suarez-Kelly LP et al.
Cold Spring Harbor Molecular Case Studies, 2018
29449315 (PubMed )
Supplement: supp_mcs.a002352_Supplemental_Table_3.xls › SuppTable3.modified.20171216
Cell Dispersal Influences Tumor Heterogeneity and Introduces a Bias in NGS Data Interpretation.
Pongor L et al.
Scientific Reports, 2017
28779157 (PubMed )
Supplement: 41598_2017_7487_MOESM5_ESM.xls › A375_MEWO_invasion
Elucidating the cancer-specific genetic alteration spectrum of glioblastoma derived cell lines from whole exome and RNA sequencing.
Patil V et al.
Oncotarget, 2015
26496030 (PubMed )
Supplement: oncotarget-06-43452-s003.xlsx › Cancer_Specific_Mutations
Mutation Screening of 1,237 Cancer Genes across Six Model Cell Lines of Basal-Like Breast Cancer.
Olsson E et al.
Plos One, 2015
26670335 (PubMed )
Supplement: pone.0144528.s005.xlsx › TableS3
Nicotine and oxidative stress induced exomic variations are concordant and overrepresented in cancer-associated genes.
Bavarva JH et al.
Oncotarget, 2014
24947164 (PubMed )
Supplement: oncotarget-05-4788-s001.pdf
NOTCH2 mutations cause Alagille syndrome, a heterogeneous disorder of the notch signaling pathway.
McDaniell R et al.
American Journal of Human Genetics, 2006
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