Clinical utility of genome sequencing in rare diseases: lessons from a single-center study of 1,452 Korean families
Seungbok Lee(Seoul National University), Jong‐Hee Chae(Seoul National University), Seung Woo Ryu(Howard Hughes Medical Institute), S. Jang(Seoul National University Hospital), Songji Choi(Seoul National University Hospital), Go Hun Seo(Orion Corporation (United Kingdom)), Dal‐Seok Oh(Seoul National University Hospital), Dongseok Moon, Seokhui Jang(Seoul National University Hospital), Heonjong Han(Unknown), Hyungjin Chin(Seoul National University Hospital), Seoyun Jang(Seoul National University Hospital), Jihye Kim, Seung Jae Lee(Seoul National University Hospital), Jangsup Moon(Seoul National University), Soo Yeon Kim(Seoul National University Hospital), Hane Lee(Orion Corporation (United Kingdom))
Cited by 2
Related Papers
TRRUST v2: an expanded reference database of human and mouse transcriptional regulatory interactions
|Nucleic Acids Research|2017|2.1k
TRRUST: a reference database of human transcriptional regulatory interactions
|Scientific Reports|2015|492
AMPA receptor GluA2 subunit defects are a cause of neurodevelopmental disorders
|Nature Communications|2019|249
Loss-of-function HDAC8 mutations cause a phenotypic spectrum of Cornelia de Lange syndrome-like features, ocular hypertelorism, large fontanelle and X-linked inheritance
|Human Molecular Genetics|2014|151
Defining the phenotypic spectrum of <i>SLC6A1</i> mutations
|Epilepsia|2018|151