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
Long-read trio sequencing of individuals with unsolved intellectual disability.
Pauper M et al.
European Journal of Human Genetics : Ejhg, 2021
33257779 (PubMed )
Supplement: 41431_2020_770_MOESM3_ESM.xlsx › Table_S21
Whole exome sequencing identified mutations causing hearing loss in five consanguineous Pakistani families.
Zhou Y et al.
Bmc Medical Genetics, 2020
32682410 (PubMed )
Supplement: 12881_2020_1087_MOESM1_ESM.xlsx › HL2
De novo and recessive forms of congenital heart disease have distinct genetic and phenotypic landscapes.
Watkins WS et al.
Nature Communications, 2019
31624253 (PubMed )
Supplement: 41467_2019_12582_MOESM3_ESM.xlsx › SuppData2.Damaged_genes
Comprehensive, integrated, and phased whole-genome analysis of the primary ENCODE cell line K562.
Zhou B et al.
Genome Research, 2019
30737237 (PubMed )
Supplement: supp_gr.234948.118_Supplemental_Table_S6.xlsx › SNVs
Chromothripsis 18 in multiple myeloma patient with rapid extramedullary relapse.
Smetana J et al.
Molecular Cytogenetics, 2018
29375670 (PubMed )
Supplement: 13039_2018_357_MOESM2_ESM.xlsx › variants
Select a paper to view details