Associated Papers
Pan-Cancer Exome-wide analysis of germline mutational patterns and pathways.
Alnaqbi H et al.
Scientific Reports, 2025
40594066 (PubMed )
Supplement: 41598_2025_5296_MOESM2_ESM.xlsx › Supplementary_Table_4
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
Whole exome sequencing reveals an FCGBP variant associated with spontaneous intraabdominal hemorrhage in severe acute pancreatitis.
Tang QY et al.
Imetaomics, 2025
41675706 (PubMed )
Supplement: IMO2-2-e52-s002.xlsx › 2D
The genetic landscape of autism spectrum disorder in an ancestrally diverse cohort.
Gogate A et al.
Npj Genomic Medicine, 2024
39632905 (PubMed )
Supplement: 41525_2024_444_MOESM2_ESM.xlsx › Supplementary_Data_5
Identification of CFAP52 as a novel diagnostic target of male infertility with defects of sperm head-tail connection and flagella development.
Jin HJ et al.
Elife, 2023
38126872 (PubMed )
Supplement: elife-92769-fig2-data1.zip › Figure_2-source_data_1 › Figure_2-source_data_1 › Figure_2-source_data_1.xlsx › Table
Exome variants associated with asthma and allergy.
Wjst M
Scientific Reports, 2022
36470944 (PubMed )
Supplement: 41598_2022_24960_MOESM1_ESM.pdf
Whole-genome sequencing of Atacama skeleton shows novel mutations linked with dysplasia.
Bhattacharya S et al.
Genome Research, 2018
29567674 (PubMed )
Supplement: supp_gr.223693.117_Supplemental_Table_S8.xls › Indels_Exonic
Actionable perturbations of damage responses by TCL1/ATM and epigenetic lesions form the basis of T-PLL.
Schrader A et al.
Nature Communications, 2018
29449575 (PubMed )
Supplement: 41467_2017_2688_MOESM20_ESM.xlsx › d__Freq_TP093
Select a paper to view details