Molecular mechanism for duplication 17p11. 2—the homologous recombination reciprocal of the Smith-Magenis microdeletion L Potocki, KS Chen, SS Park, DE Osterholm, MA Withers, V Kimonis, ... Nature genetics 24 (1), 84-87, 2000 | 409 | 2000 |
Association of LRRK2 exonic variants with susceptibility to Parkinson's disease: a case–control study OA Ross, AI Soto-Ortolaza, MG Heckman, JO Aasly, N Abahuni, G Annesi, ... The Lancet Neurology 10 (10), 898-908, 2011 | 356 | 2011 |
A single recurrent mutation in the 5′-UTR of IFITM5 causes osteogenesis imperfecta type V TJ Cho, KE Lee, SK Lee, SJ Song, KJ Kim, D Jeon, G Lee, HN Kim, ... The American Journal of Human Genetics 91 (2), 343-348, 2012 | 305 | 2012 |
α-Synuclein gene duplication is present in sporadic Parkinson disease TB Ahn, SY Kim, JY Kim, SS Park, DS Lee, HJ Min, YK Kim, SE Kim, ... Neurology 70 (1), 43-49, 2008 | 279 | 2008 |
Circadian rhythm abnormalities of melatonin in Smith-Magenis syndrome L Potocki, D Glaze, DX Tan, SS Park, CD Kashork, LG Shaffer, RJ Reiter, ... Journal of medical genetics 37 (6), 428-433, 2000 | 233 | 2000 |
Viral load kinetics of MERS coronavirus infection M Oh, WB Park, PG Choe, SJ Choi, JI Kim, J Chae, SS Park, EC Kim, ... New England Journal of Medicine 375 (13), 1303-1305, 2016 | 232 | 2016 |
Genome architecture catalyzes nonrecurrent chromosomal rearrangements P Stankiewicz, CJ Shaw, JD Dapper, K Wakui, LG Shaffer, M Withers, ... The American Journal of Human Genetics 72 (5), 1101-1116, 2003 | 213 | 2003 |
Viral RNA load in mildly symptomatic and asymptomatic children with COVID-19, Seoul, South Korea MS Han, MW Seong, N Kim, S Shin, S Im Cho, H Park, TS Kim, SS Park, ... Emerging infectious diseases 26 (10), 2497, 2020 | 205 | 2020 |
Association of DRD3 and GRIN2B with impulse control and related behaviors in Parkinson's disease JY Lee, EK Lee, SS Park, JY Lim, HJ Kim, JS Kim, BS Jeon Movement Disorders 24 (12), 1803-1810, 2009 | 179 | 2009 |
Large-scale replication and heterogeneity in Parkinson disease genetic loci M Sharma, JPA Ioannidis, JO Aasly, G Annesi, A Brice, ... Neurology 79 (7), 659-667, 2012 | 162 | 2012 |
Sequential analysis of viral load in a neonate and her mother infected with severe acute respiratory syndrome coronavirus 2 MS Han, MW Seong, EY Heo, JH Park, N Kim, S Shin, SI Cho, SS Park, ... Clinical Infectious Diseases 71 (16), 2236-2239, 2020 | 147 | 2020 |
The breakpoint region of the most common isochromosome, i (17q), in human neoplasia is characterized by a complex genomic architecture with large, palindromic, low-copy repeats A Barbouti, P Stankiewicz, C Nusbaum, C Cuomo, A Cook, M Höglund, ... The American Journal of Human Genetics 74 (1), 1-10, 2004 | 147 | 2004 |
Genes in a refined Smith-Magenis syndrome critical deletion interval on chromosome 17p11. 2 and the syntenic region of the mouse W Bi, J Yan, P Stankiewicz, SS Park, K Walz, CF Boerkoel, L Potocki, ... Genome research 12 (5), 713-728, 2002 | 146 | 2002 |
Importance of low-range CAG expansion and CAA interruption in SCA2 Parkinsonism JM Kim, S Hong, GP Kim, YJ Choi, YK Kim, SS Park, SE Kim, BS Jeon Archives of neurology 64 (10), 1510-1518, 2007 | 143 | 2007 |
Anti-cancer effect of Cordyceps militaris in human colorectal carcinoma RKO cells via cell cycle arrest and mitochondrial apoptosis HH Lee, S Lee, K Lee, YS Shin, H Kang, H Cho DARU Journal of Pharmaceutical Sciences 23, 1-8, 2015 | 140* | 2015 |
Dopamine transporter density measured by [123I]β‐CIT single‐photon emission computed tomography is normal in dopa‐responsive dystonia BS Jeon, JM Jeong, SS Park, JM Kim, YS Chang, HC Song, KM Kim, ... Annals of neurology 43 (6), 792-800, 1998 | 139 | 1998 |
Reciprocal crossovers and a positional preference for strand exchange in recombination events resulting in deletion or duplication of chromosome 17p11. 2 W Bi, SS Park, CJ Shaw, MA Withers, PI Patel, JR Lupski The American Journal of Human Genetics 73 (6), 1302-1315, 2003 | 135 | 2003 |
Molecular characterization of D–Korean persons: development of a diagnostic strategy JY Kim, SY Kim, CA Kim, GS Yon, SS Park Transfusion 45 (3), 345-352, 2005 | 130 | 2005 |
A multi-centre clinico-genetic analysis of the VPS35 gene in Parkinson disease indicates reduced penetrance for disease-associated variants M Sharma, JPA Ioannidis, JO Aasly, G Annesi, A Brice, L Bertram, M Bozi, ... Journal of medical genetics 49 (11), 721-726, 2012 | 123 | 2012 |
The evolutionary chromosome translocation 4; 19 in Gorilla gorilla is associated with microduplication of the chromosome fragment syntenic to sequences surrounding the human … P Stankiewicz, SS Park, K Inoue, JR Lupski Genome Research 11 (7), 1205-1210, 2001 | 117 | 2001 |