| Diagnostic yield and clinical utility of whole exome sequencing using an automated variant prioritization system, EVIDENCE GH Seo, T Kim, IH Choi, J Park, J Lee, S Kim, D Won, A Oh, Y Lee, J Choi, ... Clinical genetics 98 (6), 562-570, 2020 | 94 | 2020 |
| Phenotype categorization of neurofibromatosis type I and correlation to NF1 mutation types E Kang, YM Kim, GH Seo, A Oh, HM Yoon, YS Ra, EK Kim, H Kim, ... Journal of Human Genetics 65 (2), 79-89, 2020 | 53 | 2020 |
| Pharmacologic properties of high-dose ambroxol in four patients with Gaucher disease and myoclonic epilepsy YM Kim, MS Yum, SH Heo, T Kim, HK Jin, J Bae, GH Seo, A Oh, HM Yoon, ... Journal of medical genetics 57 (2), 124-131, 2020 | 46 | 2020 |
| Targeted gene panel sequencing for molecular diagnosis of Kallmann syndrome and normosmic idiopathic hypogonadotropic hypogonadism JH Kim, GH Seo, GH Kim, J Huh, IT Hwang, JH Jang, HW Yoo, JH Choi Experimental and Clinical Endocrinology & Diabetes 127 (08), 538-544, 2019 | 35 | 2019 |
| Growth hormone therapy in patients with Noonan syndrome GH Seo, HW Yoo Annals of pediatric endocrinology & metabolism 23 (4), 176, 2018 | 28 | 2018 |
| The phenotypic heterogeneity of patients with Marfan-related disorders and their variant spectrums GH Seo, YM Kim, E Kang, GH Kim, EJ Seo, BH Lee, JH Choi, HW Yoo Medicine 97 (20), e10767, 2018 | 25 | 2018 |
| A case of an infant suspected as IMAGE syndrome who were finally diagnosed with MIRAGE syndrome by targeted Mendelian exome sequencing YM Kim, GH Seo, GH Kim, JM Ko, JH Choi, HW Yoo BMC Medical Genetics 19, 1-5, 2018 | 24 | 2018 |
| Turner syndrome presented with tall stature due to overdosage of the SHOX gene GH Seo, E Kang, JH Cho, BH Lee, JH Choi, GH Kim, EJ Seo, HW Yoo Annals of Pediatric Endocrinology & Metabolism 20 (2), 110, 2015 | 22 | 2015 |
| Diagnostic performance of automated, streamlined, daily updated exome analysis in patients with neurodevelopmental delay GH Seo, H Lee, J Lee, H Han, YK Cho, M Kim, Y Choi, J Choi, IH Choi, ... Molecular Medicine 28 (1), 38, 2022 | 18 | 2022 |
| Clinical and molecular spectra of BRAF-associated RASopathy Y Lee, Y Choi, GH Seo, GH Kim, IH Choi, C Keum, JM Ko, CK Cheon, ... Journal of Human Genetics 66 (4), 389-399, 2021 | 18 | 2021 |
| Characteristic dysmorphic features in congenital disorders of glycosylation type IIb YM Kim, GH Seo, E Jung, JH Jang, SZ Kim, BH Lee Journal of Human Genetics 63 (3), 383-386, 2018 | 18 | 2018 |
| Identification of extremely rare mitochondrial disorders by whole exome sequencing GH Seo, A Oh, EN Kim, Y Lee, J Park, T Kim, YM Lim, GH Kim, CJ Kim, ... Journal of human genetics 64 (11), 1117-1125, 2019 | 16 | 2019 |
| Identification of 1p36 deletion syndrome in patients with facial dysmorphism and developmental delay GH Seo, JH Kim, JH Cho, GH Kim, EJ Seo, BH Lee, JH Choi, HW Yoo Korean journal of pediatrics 59 (1), 16, 2016 | 13 | 2016 |
| Diverse genetic landscape of suspected retinitis pigmentosa in a large korean cohort YJ Kim, YN Kim, YH Yoon, EJ Seo, GH Seo, C Keum, BH Lee, JY Lee Genes 12 (5), 675, 2021 | 12 | 2021 |
| Low prevalence of argininosuccinate lyase deficiency among inherited urea cycle disorders in Korea D Kim, JM Ko, Y Kim, GH Seo, GH Kim, BH Lee, HW Yoo Journal of Human Genetics 63 (8), 911-917, 2018 | 11 | 2018 |
| Compound Heterozygote of Point Mutation and Chromosomal Microdeletion Involving OTUD6B Coinciding with ZMIZ1 Variant in Syndromic Intellectual Disability T Phetthong, A Khongkrapan, N Jinawath, GH Seo, ... Genes 12 (10), 1583, 2021 | 10 | 2021 |
| De novo development of mtDNA deletion due to decreased POLG and SSBP1 expression in humans Y Lee, T Kim, M Lee, S So, MZ Karagozlu, GH Seo, IH Choi, PCW Lee, ... Genes 12 (2), 284, 2021 | 10 | 2021 |
| Clinical characteristics and disease progression of retinitis pigmentosa associated with PDE6B mutations in Korean patients YN Kim, JS Song, SH Oh, YJ Kim, YH Yoon, EJ Seo, CA Seol, SM Lee, ... Scientific Reports 10 (1), 19540, 2020 | 10 | 2020 |
| Clinical and genetic features of four patients with Pearson syndrome: An observational study JS Son, GH Seo, YM Kim, GH Kim, HK Jin, J Bae, HJ Im, HW Yoo, BH Lee Medicine 101 (5), e28793, 2022 | 9 | 2022 |
| Clinical application of whole exome sequencing to identify rare but remediable neurologic disorders MJ Kim, MS Yum, GH Seo, Y Lee, HN Jang, TS Ko, BH Lee Journal of Clinical Medicine 9 (11), 3724, 2020 | 9 | 2020 |
