2011 | | A founder mutation of CANT1 common in Korean and Japanese Desbuquois dysplasia. | 김옥화 |
2010 | | A novel homozygous MMP2 mutation in a patient with Torg-Winchester syndrome. | 김옥화, 김현주, 정선용 |
2015 | | A reply to a commentary on 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. | 임신영, 정선용 |
2005 | | Association analysis of signal transducer and activator of transcription 4 (STAT4) polymorphisms with asthma. | 박해심 |
2016 | | Cerebellar vermis hypoplasia in CHARGE syndrome: clinical and molecular characterization of 18 unrelated Korean patients | 손영배 |
2013 | | Clinical and genetic spectrum of 18 unrelated Korean patients with Sotos syndrome: frequent 5q35 microdeletion and identification of four novel NSD1 mutations. | 손영배, 정선용, 진현석 |
2012 | | Genetic variability of prostaglandin E2 receptor subtype EP4 gene in aspirin-intolerant chronic urticaria | 김승현, 박해심, 예영민 |
2013 | | Genome-wide association study of serum albumin:globulin ratio in Korean populations. | 진현석 |
2015 | | GWA meta-analysis of personality in Korean cohorts. | 조남한 |
2013 | | High-dose enzyme replacement therapy attenuates cerebroventriculomegaly in a mouse model of mucopolysaccharidosis type II. | 손영배 |
2011 | | Identification of a novel recombinant mutation in Korean patients with Gaucher disease using a long-range PCR approach. | 김현주, 정선용 |
2015 | | Identification of FAM13A gene associated with the ratio of FEV1 to FVC in Korean population by genome-wide association studies including gene-environment interactions. | 조남한 |
2014 | | Identification of KMT2D and KDM6A mutations by exome sequencing in Korean patients with Kabuki syndrome. | 손영배, 정선용 |
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 |
2004 | | Interleukin 3 (IL3) polymorphisms associated with decreased risk of asthma and atopy. | 박해심 |
2016 | | KOHBRA BRCA risk calculator (KOHCal): a model for predicting BRCA1 and BRCA2 mutations in Korean breast cancer patients | 정용식 |
2017 | | Meta-analysis of genome-wide SNP- and pathway-based associations for facets of neuroticism | 조남한 |
2010 | | Recapitulation of two genomewide association studies on blood pressure and essential hypertension in the Korean population. | 진현석 |
2013 | | The proportion of uniparental disomy is increased in Prader-Willi syndrome due to an advanced maternal childbearing age in Korea. | 손영배 |
2010 | | TRPV4-pathy, a novel channelopathy affecting diverse systems. | 김옥화 |