期刊: EUROPEAN JOURNAL OF HUMAN GENETICS, 2021; 29 (7)
Thoracic aortic aneurysm with or without dissection (TAAD) can be broadly categorized as syndromic TAAD (sTAAD) and isolated TAAD (iTAAD). sTAAD and i......
期刊: EUROPEAN JOURNAL OF HUMAN GENETICS, 2021; 29 (8)
Critically ill coronavirus disease 2019 (COVID-19) is characterized by severe cytokine storms, a hyperinflammatory condition intimately related to the......
期刊: EUROPEAN JOURNAL OF HUMAN GENETICS, ; ()
PANX1, one of the members of the pannexin family, is a highly glycosylated channel-forming protein. Recently, we identified heterozygous variants in P......
期刊: EUROPEAN JOURNAL OF HUMAN GENETICS, ; ()
To elucidate whether Bronze Age population dispersals from the Eurasian Steppe to South Asia contributed to the gene pool of Indo-Iranian-speaking gro......
期刊: EUROPEAN JOURNAL OF HUMAN GENETICS, 2020; 28 (10)
DNA sequencing is a widely used tool in genetic association study. Sequencing cost remains a major concern in sequencing-based study, although the app......
期刊: EUROPEAN JOURNAL OF HUMAN GENETICS, 2020; 28 (11)
BRAFandMLH1promoter methylation testings have been proven effective prescreens for Lynch Syndrome. We aimed to compare different screening strategies ......