2019 | | Identification of a Novel Frameshift Variant of POU3F4 and Genetic Counseling of Korean Incomplete Partition Type III Subjects Based on Detailed Genotypes | 장정훈, 정연훈 |
2017 | | Identification of a Novel Mutation in BRD4 that Causes Autosomal Dominant Syndromic Congenital Cataracts Associated with Other Neuro-Skeletal Anomalies | 김정현 |
2018 | | Identification of a rare homozygous c.790C>T variation in the TFB2M gene in Korean patients with autism spectrum disorder | 김정현, 박찬배, 이영수, 임신영, 정선용 |
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 |
2014 | | Identification of the rare compound heterozygous variants in the NEB gene in a Korean family with intellectual disability, epilepsy and early-childhood-onset generalized muscle weakness. | 이기영, 임신영, 정선용 |
2017 | | Makorin ring finger 3 gene analysis in Koreans with familial precocious puberty | 이해상 |
2016 | | Multiple Endocrine Neoplasia Type 1 Presenting as Hypoglycemia due to Insulinoma | 이해상, 황진순 |
2018 | | Mutational and phenotypic spectrum of OTOF-related auditory neuropathy in Koreans: eliciting reciprocal interaction between bench and clinics | 장정훈, 정연훈 |
2014 | | Mutations in PCYT1A, encoding a key regulator of phosphatidylcholine metabolism, cause spondylometaphyseal dysplasia with cone-rod dystrophy | 김옥화 |
2010 | | Non-type I cystinuria associated with mental retardation and ataxia in a Korean boy with a new missence mutation(G173R) in the SLC7A9 gene. | 김성환, 황진순 |
2014 | | Overgrowth syndrome associated with a gain-of-function mutation of the natriuretic peptide receptor 2 (NPR2) gene. | 김옥화 |
2012 | | PAPSS2 mutations cause autosomal recessive brachyolmia | 김옥화 |
2016 | | Pseudo-dominant inheritance in Wilson's disease | 윤정한 |
2014 | | Similar clinical characteristics of familial and sporadic inflammatory bowel disease in South Korea. | 정숙희 |
2010 | | Spondylo-epiphyseal dysplasia, Maroteaux type (pseudo-Morquio syndrome type 2), and parastremmatic dysplasia are caused by TRPV4 mutations. | 김옥화 |
2000 | | The first successful prenatal diagnosis on a Korean family with citrullinemia. | 한시훈 |
2005 | | Three novel VHL germline mutations in Korean patients with von Hippel-Lindau disease and pheochromocytomas. | 김대중, 이관우 |
2014 | | Whole-exome sequencing identifies a novel genotype-phenotype correlation in the entactin domain of the known deafness gene TECTA. | 정주용 |
2011 | | Whole-exome sequencing identifies mutations of KIF22 in spondyloepimetaphyseal dysplasia with joint laxity, leptodactylic type. | 김옥화 |