| Abatacept alleviates severe autoimmune symptoms in a patient carrying a de novo variant in CTLA-4 S Lee, JS Moon, CR Lee, HE Kim, SM Baek, S Hwang, GH Kang, JK Seo, ... Journal of Allergy and Clinical Immunology 137 (1), 327-330, 2016 | 153 | 2016 |
| A human three-dimensional neural-perivascular ‘assembloid’promotes astrocytic development and enables modeling of SARS-CoV-2 neuropathology L Wang, D Sievert, AE Clark, S Lee, H Federman, BD Gastfriend, ... Nature medicine, 1-7, 2021 | 108 | 2021 |
| CHD3 helicase domain mutations cause a neurodevelopmental syndrome with macrocephaly and impaired speech and language LS Blok, J Rousseau, J Twist, S Ehresmann, M Takaku, H Venselaar, ... Nature communications 9 (1), 1-12, 2018 | 96 | 2018 |
| Korean Variant Archive (KOVA): a reference database of genetic variations in the Korean population S Lee, J Seo, J Park, JY Nam, A Choi, JS Ignatius, RD Bjornson, JH Chae, ... Scientific reports 7 (1), 1-9, 2017 | 70 | 2017 |
| Closing in on Mechanisms of Open Neural Tube Defects S Lee, JG Gleeson Trends in Neurosciences, 2020 | 59 | 2020 |
| The role of TNF superfamily member 13 in the progression of IgA nephropathy SS Han, SH Yang, M Choi, HR Kim, K Kim, S Lee, KC Moon, JY Kim, ... Journal of the American Society of Nephrology 27 (11), 3430-3439, 2016 | 45 | 2016 |
| Loss of podocalyxin causes a novel syndromic type of congenital nephrotic syndrome HG Kang, M Lee, KB Lee, M Hughes, BS Kwon, S Lee, KM McNagny, ... Experimental & molecular medicine 49 (12), e414-e414, 2017 | 36 | 2017 |
| Mutations in Spliceosomal Genes PPIL1 and PRP17 Cause Neurodegenerative Pontocerebellar Hypoplasia with Microcephaly G Chai, A Webb, C Li, D Antaki, S Lee, MW Breuss, N Lang, V Stanley, ... Neuron 109 (2), 241-256. e9, 2021 | 33 | 2021 |
| Diagnostic challenge for the rare lysosomal storage disease: Late infantile GM1 gangliosidosis JS Lee, JM Choi, M Lee, SY Kim, S Lee, BC Lim, JE Cheon, IO Kim, ... Brain and Development 40 (5), 383-390, 2018 | 31 | 2018 |
| Prognostic factors for visual recovery after transsphenoidal pituitary adenectomy S Lee, SJ Kim, YS Yu, YH Kim, SH Paek, DG Kim, HW Jung British journal of neurosurgery 27 (4), 425-429, 2013 | 31 | 2013 |
| Early-onset generalized dystonia starting in the lower extremities in a patient with a novel ANO3 variant D Yoo, HJ Kim, JS Lee, S Lee, SY Kim, M Choi, JH Chae, B Jeon Parkinsonism & related disorders 50, 124-125, 2018 | 29 | 2018 |
| Loss of function mutations in GEMIN5 cause a neurodevelopmental disorder S Kour, DS Rajan, TR Fortuna, EN Anderson, C Ward, Y Lee, S Lee, ... Nature communications 12 (1), 1-15, 2021 | 28 | 2021 |
| Current smoking is associated with a poor visual acuity improvement after intravitreal ranibizumab therapy in patients with exudative age-related macular degeneration S Lee, SJ Song, HG Yu Journal of Korean Medical Science 28 (5), 769, 2013 | 28 | 2013 |
| Comparative cross-sectional analysis of the effects of topical antiglaucoma drugs on the ocular surface S Lee, MK Kim, HJ Choi, WR Wee, DM Kim Advances in therapy 30 (4), 420-429, 2013 | 28 | 2013 |
| Atypical presentation of infantile‐onset farber disease with novel ASAH1 mutations SY Kim, SA Choi, S Lee, JS Lee, CR Hong, BC Lim, HJ Kang, KJ Kim, ... American Journal of Medical Genetics Part A 170 (11), 3023-3027, 2016 | 21 | 2016 |
| Biallelic variants in HPDL, encoding 4-hydroxyphenylpyruvate dioxygenase-like protein, lead to an infantile neurodegenerative condition SG Ghosh, S Lee, R Fabunan, G Chai, MS Zaki, G Abdel-Salam, T Sultan, ... Genetics in Medicine 23 (3), 524-533, 2021 | 20 | 2021 |
| Alpha-thalassemia X-linked intellectual disability syndrome identified by whole exome sequencing in two boys with white matter changes and developmental retardation JS Lee, S Lee, BC Lim, KJ Kim, YS Hwang, M Choi, JH Chae Gene 569 (2), 318-322, 2015 | 20 | 2015 |
| Bi-allelic Loss of Human APC2, Encoding Adenomatous Polyposis Coli Protein 2, Leads to Lissencephaly, Subcortical Heterotopia, and Global Developmental Delay S Lee, DY Chen, MS Zaki, R Maroofian, H Houlden, N Di Donato, D Abdin, ... The American Journal of Human Genetics 105 (4), 844-853, 2019 | 17 | 2019 |
| Missense Mutations in NKAP Cause a Disorder of Transcriptional Regulation Characterized by Marfanoid Habitus and Cognitive Impairment SK Fiordaliso, A Iwata-Otsubo, AL Ritter, M Quesnel-Vallières, K Fujiki, ... The American Journal of Human Genetics 105 (5), 987-995, 2019 | 16 | 2019 |
| Familial cases of progressive myoclonic epilepsy caused by maternal somatic mosaicism of a recurrent KCNC1 p. Arg320His mutation H Kim, S Lee, M Choi, H Kim, H Hwang, JE Choi, JH Chae, KJ Kim, ... Brain and Development 40 (5), 429-432, 2018 | 16 | 2018 |
