PubRank

Sung Sup Park

Author PubWeight™ 92.77‹?›

Top papers

Rank Title Journal Year PubWeight™‹?›
1 Association of LRRK2 exonic variants with susceptibility to Parkinson's disease: a case-control study. Lancet Neurol 2011 3.36
2 Large-scale replication and heterogeneity in Parkinson disease genetic loci. Neurology 2012 2.18
3 A single recurrent mutation in the 5'-UTR of IFITM5 causes osteogenesis imperfecta type V. Am J Hum Genet 2012 1.70
4 IL-6 transgenic mouse model for extraosseous plasmacytoma. Proc Natl Acad Sci U S A 2002 1.55
5 In a model of immunoglobulin heavy-chain (IGH)/MYC translocation, the Igh 3' regulatory region induces MYC expression at the immature stage of B cell development. Genes Chromosomes Cancer 2007 1.46
6 SNPs in axon guidance pathway genes and susceptibility for Parkinson's disease in the Korean population. J Hum Genet 2010 1.42
7 Predicted pathogenic missense mutation of PGRN found in a normal control. Ann Neurol 2010 1.38
8 Molecular characterization of D- Korean persons: development of a diagnostic strategy. Transfusion 2005 1.26
9 Importance of low-range CAG expansion and CAA interruption in SCA2 Parkinsonism. Arch Neurol 2007 1.13
10 Thioredoxin modulates activator protein 1 (AP-1) activity and p27Kip1 degradation through direct interaction with Jab1. Oncogene 2004 1.08
11 Association of DRD3 and GRIN2B with impulse control and related behaviors in Parkinson's disease. Mov Disord 2009 1.05
12 A variant of Desbuquois dysplasia characterized by advanced carpal bone age, short metacarpals, and elongated phalanges: report of seven cases. Am J Med Genet A 2010 1.01
13 Microevolution of Outbreak-Associated Middle East Respiratory Syndrome Coronavirus, South Korea, 2015. Emerg Infect Dis 2016 1.01
14 Investigation of the association between OPA1 polymorphisms and normal-tension glaucoma in Korea. J Glaucoma 2004 1.00
15 Hereditary hemolytic anemia in Korea from 2007 to 2011: A study by the Korean Hereditary Hemolytic Anemia Working Party of the Korean Society of Hematology. Blood Res 2013 0.99
16 [Detection of mycobacterium tuberculosis complex using real-time polymerase chain reaction]. Korean J Lab Med 2008 0.98
17 Molecular characterization of Leber congenital amaurosis in Koreans. Mol Vis 2008 0.95
18 Revisit of multiple epiphyseal dysplasia: ethnic difference in genotypes and comparison of radiographic features linked to the COMP and MATN3 genes. Am J Med Genet A 2011 0.94
19 Glutamate-induced oxidative stress, but not cell death, is largely dependent upon extracellular calcium in mouse neuronal HT22 cells. Neurosci Lett 2005 0.93
20 Molecular genetic characteristics of X-linked retinoschisis in Koreans. Mol Vis 2009 0.93
21 First case of Mycobacterium longobardum infection. Ann Lab Med 2013 0.93
22 Investigations on the association between normal tension glaucoma and single nucleotide polymorphisms of the endothelin-1 and endothelin receptor genes. Mol Vis 2006 0.92
23 Low contribution of BRCA1/2 genomic rearrangement to high-risk breast cancer in the Korean population. Fam Cancer 2009 0.91
24 A multi-centre clinico-genetic analysis of the VPS35 gene in Parkinson disease indicates reduced penetrance for disease-associated variants. J Med Genet 2012 0.90
25 The LRRK2 G2385R variant is a risk factor for sporadic Parkinson's disease in the Korean population. Parkinsonism Relat Disord 2009 0.90
26 Interleukin-10 receptor mutations in children with neonatal-onset Crohn's disease and intractable ulcerating enterocolitis. Eur J Gastroenterol Hepatol 2013 0.89
27 RFLP haplotypes of beta-globin gene complex of beta-thalassemic chromosomes in Koreans. J Korean Med Sci 2002 0.89
28 Phenotype analysis in patients with early onset Parkinson's disease with and without parkin mutations. J Neurol 2011 0.89
29 Protective effect of LRRK2 p.R1398H on risk of Parkinson's disease is independent of MAPT and SNCA variants. Neurobiol Aging 2013 0.89
30 Role of Junctin protein interactions in cellular dynamics of calsequestrin polymer upon calcium perturbation. J Biol Chem 2011 0.88
31 The wide clinical spectrum and nigrostriatal dopaminergic damage in spinocerebellar ataxia type 6. J Neurol Neurosurg Psychiatry 2010 0.88
32 Clinical and genetic characteristics of Korean occult macular dystrophy patients. Invest Ophthalmol Vis Sci 2013 0.88
33 Enteroviral meningitis without pleocytosis in children. Arch Dis Child 2012 0.88
34 P2X7 receptor polymorphism and clinical outcomes in HLA-matched sibling allogeneic hematopoietic stem cell transplantation. Haematologica 2007 0.88
35 Antituberculosis medication as a possible epigenetic factor of Leber's hereditary optic neuropathy. Clin Experiment Ophthalmol 2010 0.88
36 Mitochondrial DNA C4171A/ND1 is a novel primary causative mutation of Leber's hereditary optic neuropathy with a good prognosis. Ann Neurol 2002 0.87
37 Viral RNA in Blood as Indicator of Severe Outcome in Middle East Respiratory Syndrome Coronavirus Infection. Emerg Infect Dis 2016 0.86
38 Relative contribution of SCA2, SCA3 and SCA17 in Korean patients with parkinsonism and ataxia. Parkinsonism Relat Disord 2011 0.86
39 A multi-institutional study on the association between BRCA1/BRCA2 mutational status and triple-negative breast cancer in familial breast cancer patients. Breast Cancer Res Treat 2014 0.86
40 Evaluation of two hepatitis C virus genotyping assays based on the 5' untranslated region (UTR): the limitations of 5' UTR-based assays and the need for a supplementary sequencing-based approach. J Clin Microbiol 2012 0.86
41 Extracellular hydrogen peroxide contributes to oxidative glutamate toxicity. Brain Res 2010 0.84
42 Nox4-dependent H2O2 production contributes to chronic glutamate toxicity in primary cortical neurons. Exp Cell Res 2010 0.84
43 Efficient molecular genetic diagnosis of enlarged vestibular aqueducts in East Asians. Genet Test Mol Biomarkers 2009 0.84
44 Chronic glutamate toxicity in mouse cortical neuron culture. Brain Res 2009 0.83
45 Congenital subependymal giant cell astrocytoma: clinical considerations and expression of radial glial cell markers in giant cells. Childs Nerv Syst 2008 0.83
46 Choline acetyltransferase 2384G>a polymorphism and the risk of Alzheimer disease. Alzheimer Dis Assoc Disord 2012 0.83
47 VSX1 gene and keratoconus: genetic analysis in Korean patients. Cornea 2012 0.83
48 Spectrum of the mitochondrial DNA mutations of Leber's hereditary optic neuropathy in Koreans. J Neurol 2003 0.83
49 A case of near total aortic replacement in an adolescent with loeys-dietz syndrome. Korean Circ J 2012 0.83
50 Neonatal intrahepatic cholestasis caused by citrin deficiency in Korean infants. J Korean Med Sci 2007 0.83
51 Brain imaging studies in Leber's congenital amaurosis: new radiologic findings associated with the complex trait. Korean J Ophthalmol 2010 0.83
52 Two Parkinson's disease patients with alpha-synuclein gene duplication and rapid cognitive decline. Mov Disord 2010 0.83
53 Molecular and clinical characteristics of myotonic dystrophy type 1 in koreans. Korean J Lab Med 2008 0.82
54 Long QT syndrome and dilated cardiomyopathy with SCN5A p.R1193Q polymorphism: cardioverter-defibrillator implantation at 27 months. Pacing Clin Electrophysiol 2012 0.82
55 Comparison of orthopaedic manifestations of multiple epiphyseal dysplasia caused by MATN3 versus COMP mutations: a case control study. BMC Musculoskelet Disord 2014 0.82
56 Infantile vitreous hemorrhage as the initial presentation of X-linked juvenile retinoschisis. Korean J Ophthalmol 2009 0.82
57 Clinical course of non-severe aplastic anemia in adults. Int J Hematol 2010 0.82
58 Usefulness of a rapid real-time PCR assay in prenatal screening for group B streptococcus colonization. Ann Lab Med 2012 0.82
59 A multi-institutional study of the prevalence of BRCA1 and BRCA2 large genomic rearrangements in familial breast cancer patients. BMC Cancer 2014 0.82
60 Identification of two novel NPM1 mutations in patients with acute myeloid leukemia. Ann Lab Med 2012 0.81
61 Childhood brugada syndrome in two korean families. Korean Circ J 2010 0.81
62 Screening for MAPT and PGRN mutations in Korean patients with PSP/CBS/FTD. Parkinsonism Relat Disord 2010 0.81
63 A novel double mutation in cis in MFN2 causes Charcot-Marie-Tooth neuropathy type 2A. Neurogenetics 2012 0.81
64 The first study on nucleotide-level identification of Hb Koriyama in a patient with severe hemolytic anemia. Ann Lab Med 2011 0.80
65 Jervell and Lange-Nielsen syndrome: novel compound heterozygous mutations in the KCNQ1 in a Korean family. J Korean Med Sci 2010 0.80
66 PI3K-ERK1/2 activation contributes to extracellular H2O2 generation in amyloid β toxicity. Neurosci Lett 2012 0.80
67 A novel mutation of the TAZ gene in Barth syndrome: acute exacerbation after contrast-dye injection. J Korean Med Sci 2013 0.80
68 Impact of vitamin D receptor gene polymorphisms on clinical outcomes of HLA-matched sibling hematopoietic stem cell transplantation. Clin Transplant 2011 0.79
69 Respiratory viral infections after hematopoietic stem cell transplantation in children. J Korean Med Sci 2013 0.79
70 Prognosis of secondary acute myeloid leukemia is affected by the type of the preceding hematologic disorders and the presence of trisomy 8. Jpn J Clin Oncol 2010 0.79
71 QT Prolongation and Life Threatening Ventricular Tachycardia in a Patient Injected With Intravenous Meperidine (Demerol®). Korean Circ J 2011 0.79
72 Molecular identification of the novel Gγ-β hybrid hemoglobin: Hb Gγ-β Ulsan (Gγ through 13; β from 19). Blood Cells Mol Dis 2010 0.79
73 Impact of cytokine gene polymorphisms on risk and treatment outcomes of aplastic anemia. Ann Hematol 2010 0.79
74 Linkage of caspase-mediated degradation of paxillin to apoptosis in Ba/F3 murine pro-B lymphocytes. J Biol Chem 2002 0.79
75 Population-specific frequencies for LRRK2 susceptibility variants in the Genetic Epidemiology of Parkinson's Disease (GEO-PD) Consortium. Mov Disord 2013 0.79
76 Absence of CHN1 in two patients with a bilateral absence of cranial nerves IV and VI. Graefes Arch Clin Exp Ophthalmol 2014 0.78
77 Leber's hereditary optic neuropathy mutations in ethambutol-induced optic neuropathy. J Neurol 2003 0.78
78 Glutathione S-transferase A1 polymorphisms and acute graft-vs.-host disease in HLA-matched sibling allogeneic hematopoietic stem cell transplantation. Clin Transplant 2007 0.78
79 Comparison of the analytical and clinical performances of Abbott RealTime High Risk HPV, Hybrid Capture 2, and DNA Chip assays in gynecology patients. Diagn Microbiol Infect Dis 2013 0.78
80 Polymorphisms of the methylenetetrahydrofolate reductase gene and clinical outcomes in HLA-matched sibling allogeneic hematopoietic stem cell transplantation. Ann Hematol 2006 0.78
81 A case of brain abscess caused by Propionibacterium acnes 13 months after neurosurgery and confirmed by 16S rRNA gene sequencing. Korean J Lab Med 2011 0.78
82 Comparison of modified multiple-locus variable-number tandem-repeat fingerprinting with pulsed-field gel electrophoresis for typing clinical isolates of Staphylococcus aureus. Ann Lab Med 2011 0.78
83 PI3Kγ contributes to MEK1/2 activation in oxidative glutamate toxicity via PDK1. J Neurochem 2013 0.78
84 Hereditary Spastic Paraplegia with a Novel SPAST Mutation Misdiagnosed with Subacute Combined Degeneration. Exp Neurobiol 2013 0.77
85 CDK2 differentially controls normal cell senescence and cancer cell proliferation upon exposure to reactive oxygen species. Biochem Biophys Res Commun 2012 0.77
86 Genetic Polymorphisms in Autophagy-Associated Genes in Korean Children With Early-Onset Crohn Disease. J Pediatr Gastroenterol Nutr 2015 0.77
87 Mitochondrial DNA variant discovery in normal-tension glaucoma patients by next-generation sequencing. Invest Ophthalmol Vis Sci 2014 0.77
88 Autosomal recessive multiple epiphyseal dysplasia in a Korean girl caused by novel compound heterozygous mutations in the DTDST (SLC26A2) gene. J Korean Med Sci 2010 0.77
89 Ophthalmoplegia diagnosis. Ophthalmology 2009 0.77
90 Polymorphisms in genes that regulate cyclosporine metabolism affect cyclosporine blood levels and clinical outcomes in patients who receive allogeneic hematopoietic stem cell transplantation. Biol Blood Marrow Transplant 2011 0.77
91 LCA5, a rare genetic cause of leber congenital amaurosis in Koreans. Ophthalmic Genet 2009 0.77
92 A case report of Fanconi anemia diagnosed by genetic testing followed by prenatal diagnosis. Ann Lab Med 2012 0.76
93 RANTES polymorphisms and the risk of graft-versus-host disease in human leukocyte antigen-matched sibling allogeneic hematopoietic stem cell transplantation. Acta Haematol 2012 0.76
94 Investigation of the association between normal-tension glaucoma and single nucleotide polymorphisms in natriuretic peptide gene. Korean J Ophthalmol 2007 0.76
95 Clinical characteristics of pediatric thalassemia in Korea: a single institute experience. J Korean Med Sci 2013 0.76
96 Identification of proteins binding to decursinol by chemical proteomics. J Microbiol Biotechnol 2008 0.76
97 Spinocerebellar ataxia type 12 was not found in Korean Parkinsonian patients. Can J Neurol Sci 2008 0.76
98 False homozygous deletions of SMN1 exon 7 using Dra I PCR-RFLP caused by a novel mutation in spinal muscular atrophy. Genet Test Mol Biomarkers 2009 0.76
99 Glutaric aciduria type 1 in Korea: report of two novel mutations. J Korean Med Sci 2010 0.75
100 The first Korean case of lysinuric protein intolerance: presented with short stature and increased somnolence. J Korean Med Sci 2012 0.75
101 Successful birth with preimplantation genetic diagnosis using single-cell allele-specific PCR and sequencing in a woman with hypochondroplasia due to FGFR3 mutation (c.1620C>A, p.N540K). Clin Exp Reprod Med 2013 0.75
102 Sudden cardiac arrest during anesthesia in a 30-month-old boy with syndactyly: a case of genetically proven Timothy syndrome. J Korean Med Sci 2013 0.75
103 Patient HSP70-hom TG haplotype is associated with decreased transplant-related mortality and improved survival after sibling HLA-matched hematopoietic stem cell transplantation. Clin Transplant 2010 0.75
104 False homozygosity results in HLA genotyping due to loss of chromosome 6 in a patient with acute lymphoblastic leukemia. Korean J Lab Med 2011 0.75
105 Identification of a GDF5 mutation in a Korean patient with brachydactyly type C without foot involvement. Ann Lab Med 2013 0.75
106 Rare coincidence of familial central core disease and hemophagocytic lymphohistiocytosis. Pediatr Int 2014 0.75
107 XAGE-1a and XAGE-1d are potential biomarkers of lung squamous cell carcinoma. Clin Chim Acta 2012 0.75
108 The Relation between Endothelial Nitric Oxide Synthase Polymorphisms and Normal Tension Glaucoma. J Glaucoma 2017 0.75
109 Detection of very large off-ladder alleles at the PentaE locus in a 15 locus autosomal STR database of 199 Korean individuals. Forensic Sci Int Genet 2012 0.75
110 Serum cancer biomarker discovery through analysis of gene expression data sets across multiple tumor and normal tissues. J Biomed Inform 2011 0.75
111 Extramedullary relapse confirmed by fluorescence in situ hybridization study of an ear mass in acute promyelocytic leukemia. Int J Hematol 2004 0.75
112 Performance of two commercially available BCR-ABL1 quantification assays that use an international reporting scale. Clin Chem Lab Med 2016 0.75
113 A case report of a male patient with Hb Hammersmith [β42(CD1)Phe→Ser, TTT>TCT]. Hemoglobin 2012 0.75
114 Leber's hereditary optic neuropathy with 3460 mitochondrial DNA mutation. J Korean Med Sci 2002 0.75
115 Molecular characterization of the NF2 gene in Korean patients with neurofibromatosis type 2: a report of four novel mutations. Korean J Lab Med 2010 0.75
116 Monochorionic dizygotic twins with discordant sex and confined blood chimerism. Eur J Pediatr 2014 0.75