2015 | | Identification and in vivo functional characterization of novel compound heterozygous BMP1 variants in osteogenesis imperfecta. | 손영배 |
2020 | | Identification of rare missense mutations in NOTCH2 and HERC2 associated with familial central precocious puberty via whole-exome sequencing | 금창대, 노정기, 이해상, 정선용, 정재연, 황진순 |
2016 | | Imputing Variants in HLA-DR Beta Genes Reveals That HLA-DRB1 Is Solely Associated with Rheumatoid Arthritis and Systemic Lupus Erythematosus | 서창희 |
2010 | | Interleukin 6 gene polymorphisms are associated with systemic lupus erythematosus in Koreans. | 김승현, 김현아, 박해심, 서창희 |
2010 | | Linkage and association studies of joint morbidity from rheumatoid arthritis. | 민경복 |
2022 | | Mutation spectrum and genotype–phenotype correlations in 157 Korean CADASIL patients: a multicenter study | 박서진 |
2013 | | Mutation spectrum of NF1 and clinical characteristics in 78 Korean patients with neurofibromatosis type 1. | 김현주, 손영배, 정선용 |
2017 | | No association between estrogen receptor gene polymorphisms and premature thelarche in girls | 윤종서, 이해상, 황진순 |
2018 | | Nonsynonymous Variants in PAX4 and GLP1R Are Associated With Type 2 Diabetes in an East Asian Population | 조남한 |
2014 | | Overgrowth syndrome associated with a gain-of-function mutation of the natriuretic peptide receptor 2 (NPR2) gene. | 김옥화 |
2012 | | Prioritization of SNPs for genome-wide association studies using an interaction model of genetic variation, gene expression, and trait variation | 백효정 |
2012 | | Response to growth hormone therapy in children with Noonan syndrome: correlation with or without PTPN11 gene mutation | 황진순 |
2011 | | Revisit of multiple epiphyseal dysplasia: ethnic difference in genotypes and comparison of radiographic features linked to the COMP and MATN3 genes. | 김옥화 |
2014 | | Single nucleotide polymorphisms associated with abnormal coronary microvascular function. | 최병주 |
2010 | | The genetic association of the FPRL1 promoter polymorphism with chronic urticaria in a Korean population. | 김승현, 박해심 |
2012 | | TRPV4-pathy manifesting both skeletal dysplasia and peripheral neuropathy: a report of three patients | 김옥화 |
2011 | | Whole-exome sequencing detects somatic mutations of IDH1 in metaphyseal chondromatosis with D-2-hydroxyglutaric aciduria (MC-HGA). | 김옥화 |
2011 | | Whole-exome sequencing identifies mutations of KIF22 in spondyloepimetaphyseal dysplasia with joint laxity, leptodactylic type. | 김옥화 |