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Author Details

Nayoung K D Kim
Samsung Genome Institute, Samsung Medical Center
2013
80
25
PMIDPaper TitleJournal TitlePublished Year
35683636Correction: Park et al. Genetic Study in Korean Pediatric Patients with Steroid-Resistant Nephrotic Syndrome or Focal Segmental Glomerulosclerosis. <i>J. Clin. Med.</i> 2020, <i>9</i>, 2013.J Clin Med2022
34050020A nonsense <i>TMEM43</i> variant leads to disruption of connexin-linked function and autosomal dominant auditory neuropathy spectrum disorder.Proc Natl Acad Sci U S A2021
33994096Lighthouse in the open sea of spastic ataxia; what are the features that should not be missed in SPG11?Parkinsonism Relat Disord2021
34154699Paired analysis of tumor mutation burden calculated by targeted deep sequencing panel and whole exome sequencing in non-small cell lung cancer.BMB Rep2021
34316332Actionability evaluation of biliary tract cancer by genome transcriptome analysis and Asian cancer knowledgebase.Oncotarget2021
34205170Accurate Prognosis Prediction of Pancreatic Ductal Adenocarcinoma Using Integrated Clinico-Genomic Data of Endoscopic Ultrasound-Guided Fine Needle Biopsy.Cancers (Basel)2021
34316018Novel KCNQ4 variants in different functional domains confer genotype- and mechanism-based therapeutics in patients with nonsyndromic hearing loss.Exp Mol Med2021
31096737Clinical Targeted Next-Generation sequencing Panels for Detection of Somatic Variants in Gliomas.Cancer Res Treat2020
31881333Junction Location Identifier (JuLI): Accurate Detection of DNA Fusions in Clinical Sequencing for Precision Oncology.J Mol Diagn2020
33277616Tumor-promoting macrophages prevail in malignant ascites of advanced gastric cancer.Exp Mol Med2020
33080427Clinical characteristics of ataxia-telangiectasia presenting dystonia as a main manifestation.Clin Neurol Neurosurg2020
32604935Genetic Study in Korean Pediatric Patients with Steroid-Resistant Nephrotic Syndrome or Focal Segmental Glomerulosclerosis.J Clin Med2020
32883094Anti-Inflammatory Actions of Soluble Ninjurin-1 Ameliorate Atherosclerosis.Circulation2020
32961395Clarification of undiagnosed ataxia using whole-exome sequencing with clinical implications.Parkinsonism Relat Disord2020
32934030Correction: Alterations in the Transcriptional Programs of Myeloma Cells and the Microenvironment during Extramedullary Progression Affect Proliferation and Immune Evasion.Clin Cancer Res2020
32385277Single-cell RNA sequencing demonstrates the molecular and cellular reprogramming of metastatic lung adenocarcinoma.Nat Commun2020
32238825Author Correction: Genetic Characteristics of Korean Patients with Autosomal Dominant Polycystic Kidney Disease by Targeted Exome Sequencing.Sci Rep2020
32164334Targeted Exome Sequencing Provided Comprehensive Genetic Diagnosis of Congenital Anomalies of the Kidney and Urinary Tract.J Clin Med2020
32451460Lineage-dependent gene expression programs influence the immune landscape of colorectal cancer.Nat Genet2020
32126561A Preterm Infant with Multiple Anomalies Diagnosed with Atypical CHARGE Syndrome after a Novel CHD7 Variant Confirmed Using Whole-Genome Sequencing.Neonatology2020
31558476Alterations in the Transcriptional Programs of Myeloma Cells and the Microenvironment during Extramedullary Progression Affect Proliferation and Immune Evasion.Clin Cancer Res2020
31290142Colorectal adenocarcinoma-derived EGFR mutants are oncogenic and sensitive to EGFR-targeted monoclonal antibodies, cetuximab and panitumumab.Int J Cancer2020
30635863Type 1 Sialidosis Patient With a Novel Deletion Mutation in the NEU1 Gene: Case Report and Literature Review.Cerebellum2019
31747416Discovery of actionable genetic alterations with targeted panel sequencing in children with relapsed or refractory solid tumors.PLoS One2019
31740684Genetic Characteristics of Korean Patients with Autosomal Dominant Polycystic Kidney Disease by Targeted Exome Sequencing.Sci Rep2019
30119932Identifying SYNE1 ataxia and extending the mutational spectrum in Korea.Parkinsonism Relat Disord2019
31473629Differential disruption of autoinhibition and defect in assembly of cytoskeleton during cell division decide the fate of human <i>DIAPH1</i>-related cytoskeletopathy.J Med Genet2019
31409052Whole Transcriptome Analysis Identifies TNS4 as a Key Effector of Cetuximab and a Regulator of the Oncogenic Activity of KRAS Mutant Colorectal Cancer Cell Lines.Cells2019
31315834Tumor Genomic Profiling Guides Patients with Metastatic Gastric Cancer to Targeted Treatment: The VIKTORY Umbrella Trial.Cancer Discov2019
31158945The Effect of Globus Pallidus Interna Deep Brain Stimulation on a Dystonia Patient with the GNAL Mutation Compared to Patients with DYT1 and DYT6.J Mov Disord2019
31100099Alternative polyadenylation of single cells delineates cell types and serves as a prognostic marker in early stage breast cancer.PLoS One2019
30801717Bridging genomics and phenomics of gastric carcinoma.Int J Cancer2019
29482514Expansion of phenotypic spectrum of MYO15A pathogenic variants to include postlingual onset of progressive partial deafness.BMC Med Genet2018
30482216Mutational and phenotypic spectrum of OTOF-related auditory neuropathy in Koreans: eliciting reciprocal interaction between bench and clinics.J Transl Med2018
30262818Pharmacogenomic landscape of patient-derived tumor cells informs precision oncology therapy.Nat Genet2018
29636988Four distinct immune microenvironment subtypes in gastric adenocarcinoma with special reference to microsatellite instability.ESMO Open2018
27906677The implication of FLT3 amplification for FLT targeted therapeutics in solid tumors.Oncotarget2017
28388261A novel likely pathogenic variant in the RAB28 gene in a Korean patient with cone-rod dystrophy.Ophthalmic Genet2017
28348108Comprehensive somatic genome alterations of urachal carcinoma.J Med Genet2017
29184165ATP1A3 mutations can cause progressive auditory neuropathy: a new gene of auditory synaptopathy.Sci Rep2017
29123093Prevalence and detection of low-allele-fraction variants in clinical cancer samples.Nat Commun2017
29072634The Analysis of A Frequent TMPRSS3 Allele Containing P.V116M and P.V291L in A Cis Configuration among Deaf Koreans.Int J Mol Sci2017
28701572Clinical Application of Targeted Deep Sequencing in Solid-Cancer Patients and Utility for Biomarker-Selected Clinical Trials.Oncologist2017
28535585Good Laboratory Standards for Clinical Next-Generation Sequencing Cancer Panel Tests.J Pathol Transl Med2017
28643494Identification of Pathogenic Variants in the CHM Gene in Two Korean Patients With Choroideremia.Ann Lab Med2017
28743024A Method to Evaluate the Quality of Clinical Gene-Panel Sequencing Data for Single-Nucleotide Variant Detection.J Mol Diagn2017
28840994Identification of the PROM1 Mutation p.R373C in a Korean Patient With Autosomal Dominant Stargardt-like Macular Dystrophy.Ann Lab Med2017
28732520Characterization of background noise in capture-based targeted sequencing data.Genome Biol2017
26210357Evaluation of somatic copy number estimation tools for whole-exome sequencing data.Brief Bioinform2016
26402641Comprehensive genetic exploration of skeletal dysplasia using targeted exome sequencing.Genet Med2016
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Collaborators

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Co-authored papers 12
Seoul National University College of Medicine
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College of Medicine, The Catholic University of Korea
Co-authored papers 9
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Research Institute of Future Medicine, Samsung Medical Center
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Asan Medical Center, University of Ulsan College of Medicine
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Gangnam Severance Hospital
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Korea Advanced Institute of Science and Technology
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Harvard Medical School
Co-authored papers 3
Research Institute, National Cancer Center
Co-authored papers 3
Samsung Medical Center, Sungkyunkwan University School of Medicine
Co-authored papers 3
Broad Institute
Co-authored papers 2
Research Institute for Future Medicine, Samsung Medical Center
Co-authored papers 2
Samsung Medical Center, Sungkyunkwan University School of Medicine
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Ajou University
Co-authored papers 2
Sungkyunkwan University
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Samsung Medical Center, Sungkyunkwan University School of Medicine
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Touro College of Osteopathic Medicine
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Samsung Medical Center, Sungkyunkwan University College of Medicine
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Korea University, College of Medicine
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Samsung Medical Center, Sungkyunkwan University School
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Institute for Refractory Cancer Research, Samsung Medical Center
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Samsung Medical Center, Sungkyunkwan University School of Medicine
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Gwangju Institute of Science and Technology
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