Associated Papers
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
Novel compound heterozygous variants in lectin mannose-binding 2-like gene identified in a Chinese autosomal recessive mental retardation-52 (MRT52) patient with phenotype expansion.
Zhou C et al.
Chinese Medical Journal, 2023
37667433 (PubMed )
Supplement: cm9-136-2107-s002.xls › SHEET
Whole-exome sequencing of BRCA-negative breast cancer patients and case-control analyses identify variants associated with breast cancer susceptibility.
Lee NY et al.
Human Genomics, 2022
High prevalence of somatic PIK3CA and TP53 pathogenic variants in the normal mammary gland tissue of sporadic breast cancer patients revealed by duplex sequencing.
Kostecka A et al.
Npj Breast Cancer, 2022
35768433 (PubMed )
Supplement: 41523_2022_443_MOESM6_ESM.xlsx › Non_-_truncating_variants
Integrated Genomic, Functional, and Prognostic Characterization of Atypical Chronic Myeloid Leukemia.
Fontana D et al.
Hemasphere, 2020
33196013 (PubMed )
Supplement: hs9-4-e497-s008.xlsx › Sheet1
Integrated genomic analysis reveals mutated ELF3 as a potential gallbladder cancer vaccine candidate.
Pandey A et al.
Nature Communications, 2020
32839463 (PubMed )
Supplement: 41467_2020_17880_MOESM7_ESM.xlsx › Cholecystitis_Mutations
Dysregulation of neuron differentiation in an autistic savant with exceptional memory.
Song J et al.
Molecular Brain, 2019
31699123 (PubMed )
Supplement: 13041_2019_507_MOESM1_ESM.xlsx › SNPs_merged_1000g_deleterious
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
Efficient Mining of Variants From Trios for Ventricular Septal Defect Association Study.
Jiang P et al.
Frontiers in Genetics, 2019
31440271 (PubMed )
Supplement: Table_1.xlsx › SS-based_coding_variants
Familial Esophageal Squamous Cell Carcinoma with damaging rare/germline mutations in KCNJ12/KCNJ18 and GPRIN2 genes.
Khalilipour N et al.
Cancer Genetics, 2018
Capturing the biology of disease severity in a PSC-based model of familial dysautonomia.
Zeltner N et al.
Nature Medicine, 2016
27841875 (PubMed )
Supplement: 41591_2016_BFnm4220_MOESM18_ESM.xlsx › heterozygous_variants
Evaluation of Hybridization Capture Versus Amplicon-Based Methods for Whole-Exome Sequencing.
Samorodnitsky E et al.
Human Mutation, 2015
26110913 (PubMed )
Supplement: HUMU-36-903-s001.zip › humu22825-sup-00010-Table_S13.xlsx › Sheet1
Genomic characterization of a large panel of patient-derived hepatocellular carcinoma xenograft tumor models for preclinical development.
Gu Q et al.
Oncotarget, 2015
26062443 (PubMed )
Supplement: oncotarget-06-20160-s004.xlsx › Sheet1
Select a paper to view details