Associated Papers
Opening SCID newborn screening for novel exon genetic variants through whole-exome sequencing in China.
Yang X et al.
International Immunopharmacology, 2024
Hornerin deposits in neuronal intranuclear inclusion disease: direct identification of proteins with compositionally biased regions in inclusions.
Park H et al.
Acta Neuropathologica Communications, 2022
35246273 (PubMed )
Supplement: 40478_2022_1333_MOESM3_ESM.xlsx › Exome_summary
Clinical and Genetic Analysis of CHD7 Expands the Genotype and Phenotype of CHARGE Syndrome.
Qin Z et al.
Frontiers in Genetics, 2020
32625235 (PubMed )
Supplement: Data_Sheet_1.zip › Supplementary_Table_2.XLSX › patient_5
XomAnnotate: Analysis of Heterogeneous and Complex Exome- A Step towards Translational Medicine.
Talukder AK et al.
Plos One, 2015
25905921 (PubMed )
Supplement: pone.0123569.s008.xls › BC5_ERR166310
Temporospatial genomic profiling in glioblastoma identifies commonly altered core pathways underlying tumor progression.
Blomquist MR et al.
Neuro-oncology Advances, 0
32743548 (PubMed )
Supplement: vdaa078_suppl_supplementary_table_4.xlsx › GBM-022
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