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Author Details
Full Name
Nayoung K D Kim
Affiliation
Samsung Genome Institute, Samsung Medical Center
ORCID
Career Start Year
2013
Papers
80
H Index
25
Expertise
CM4AI Collaborator
PMID
Paper Title
Journal Title
Published Year
35683636
Correction: 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 Med
2022
34050020
A 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 A
2021
33994096
Lighthouse in the open sea of spastic ataxia; what are the features that should not be missed in SPG11?
Parkinsonism Relat Disord
2021
34154699
Paired analysis of tumor mutation burden calculated by targeted deep sequencing panel and whole exome sequencing in non-small cell lung cancer.
BMB Rep
2021
34316332
Actionability evaluation of biliary tract cancer by genome transcriptome analysis and Asian cancer knowledgebase.
Oncotarget
2021
34205170
Accurate Prognosis Prediction of Pancreatic Ductal Adenocarcinoma Using Integrated Clinico-Genomic Data of Endoscopic Ultrasound-Guided Fine Needle Biopsy.
Cancers (Basel)
2021
34316018
Novel KCNQ4 variants in different functional domains confer genotype- and mechanism-based therapeutics in patients with nonsyndromic hearing loss.
Exp Mol Med
2021
31096737
Clinical Targeted Next-Generation sequencing Panels for Detection of Somatic Variants in Gliomas.
Cancer Res Treat
2020
31881333
Junction Location Identifier (JuLI): Accurate Detection of DNA Fusions in Clinical Sequencing for Precision Oncology.
J Mol Diagn
2020
33277616
Tumor-promoting macrophages prevail in malignant ascites of advanced gastric cancer.
Exp Mol Med
2020
33080427
Clinical characteristics of ataxia-telangiectasia presenting dystonia as a main manifestation.
Clin Neurol Neurosurg
2020
32604935
Genetic Study in Korean Pediatric Patients with Steroid-Resistant Nephrotic Syndrome or Focal Segmental Glomerulosclerosis.
J Clin Med
2020
32883094
Anti-Inflammatory Actions of Soluble Ninjurin-1 Ameliorate Atherosclerosis.
Circulation
2020
32961395
Clarification of undiagnosed ataxia using whole-exome sequencing with clinical implications.
Parkinsonism Relat Disord
2020
32934030
Correction: Alterations in the Transcriptional Programs of Myeloma Cells and the Microenvironment during Extramedullary Progression Affect Proliferation and Immune Evasion.
Clin Cancer Res
2020
32385277
Single-cell RNA sequencing demonstrates the molecular and cellular reprogramming of metastatic lung adenocarcinoma.
Nat Commun
2020
32238825
Author Correction: Genetic Characteristics of Korean Patients with Autosomal Dominant Polycystic Kidney Disease by Targeted Exome Sequencing.
Sci Rep
2020
32164334
Targeted Exome Sequencing Provided Comprehensive Genetic Diagnosis of Congenital Anomalies of the Kidney and Urinary Tract.
J Clin Med
2020
32451460
Lineage-dependent gene expression programs influence the immune landscape of colorectal cancer.
Nat Genet
2020
32126561
A Preterm Infant with Multiple Anomalies Diagnosed with Atypical CHARGE Syndrome after a Novel CHD7 Variant Confirmed Using Whole-Genome Sequencing.
Neonatology
2020
31558476
Alterations in the Transcriptional Programs of Myeloma Cells and the Microenvironment during Extramedullary Progression Affect Proliferation and Immune Evasion.
Clin Cancer Res
2020
31290142
Colorectal adenocarcinoma-derived EGFR mutants are oncogenic and sensitive to EGFR-targeted monoclonal antibodies, cetuximab and panitumumab.
Int J Cancer
2020
30635863
Type 1 Sialidosis Patient With a Novel Deletion Mutation in the NEU1 Gene: Case Report and Literature Review.
Cerebellum
2019
31747416
Discovery of actionable genetic alterations with targeted panel sequencing in children with relapsed or refractory solid tumors.
PLoS One
2019
31740684
Genetic Characteristics of Korean Patients with Autosomal Dominant Polycystic Kidney Disease by Targeted Exome Sequencing.
Sci Rep
2019
30119932
Identifying SYNE1 ataxia and extending the mutational spectrum in Korea.
Parkinsonism Relat Disord
2019
31473629
Differential disruption of autoinhibition and defect in assembly of cytoskeleton during cell division decide the fate of human <i>DIAPH1</i>-related cytoskeletopathy.
J Med Genet
2019
31409052
Whole Transcriptome Analysis Identifies TNS4 as a Key Effector of Cetuximab and a Regulator of the Oncogenic Activity of KRAS Mutant Colorectal Cancer Cell Lines.
Cells
2019
31315834
Tumor Genomic Profiling Guides Patients with Metastatic Gastric Cancer to Targeted Treatment: The VIKTORY Umbrella Trial.
Cancer Discov
2019
31158945
The 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 Disord
2019
31100099
Alternative polyadenylation of single cells delineates cell types and serves as a prognostic marker in early stage breast cancer.
PLoS One
2019
30801717
Bridging genomics and phenomics of gastric carcinoma.
Int J Cancer
2019
29482514
Expansion of phenotypic spectrum of MYO15A pathogenic variants to include postlingual onset of progressive partial deafness.
BMC Med Genet
2018
30482216
Mutational and phenotypic spectrum of OTOF-related auditory neuropathy in Koreans: eliciting reciprocal interaction between bench and clinics.
J Transl Med
2018
30262818
Pharmacogenomic landscape of patient-derived tumor cells informs precision oncology therapy.
Nat Genet
2018
29636988
Four distinct immune microenvironment subtypes in gastric adenocarcinoma with special reference to microsatellite instability.
ESMO Open
2018
27906677
The implication of FLT3 amplification for FLT targeted therapeutics in solid tumors.
Oncotarget
2017
28388261
A novel likely pathogenic variant in the RAB28 gene in a Korean patient with cone-rod dystrophy.
Ophthalmic Genet
2017
28348108
Comprehensive somatic genome alterations of urachal carcinoma.
J Med Genet
2017
29184165
ATP1A3 mutations can cause progressive auditory neuropathy: a new gene of auditory synaptopathy.
Sci Rep
2017
29123093
Prevalence and detection of low-allele-fraction variants in clinical cancer samples.
Nat Commun
2017
29072634
The Analysis of A Frequent TMPRSS3 Allele Containing P.V116M and P.V291L in A Cis Configuration among Deaf Koreans.
Int J Mol Sci
2017
28701572
Clinical Application of Targeted Deep Sequencing in Solid-Cancer Patients and Utility for Biomarker-Selected Clinical Trials.
Oncologist
2017
28535585
Good Laboratory Standards for Clinical Next-Generation Sequencing Cancer Panel Tests.
J Pathol Transl Med
2017
28643494
Identification of Pathogenic Variants in the CHM Gene in Two Korean Patients With Choroideremia.
Ann Lab Med
2017
28743024
A Method to Evaluate the Quality of Clinical Gene-Panel Sequencing Data for Single-Nucleotide Variant Detection.
J Mol Diagn
2017
28840994
Identification of the PROM1 Mutation p.R373C in a Korean Patient With Autosomal Dominant Stargardt-like Macular Dystrophy.
Ann Lab Med
2017
28732520
Characterization of background noise in capture-based targeted sequencing data.
Genome Biol
2017
26210357
Evaluation of somatic copy number estimation tools for whole-exome sequencing data.
Brief Bioinform
2016
26402641
Comprehensive genetic exploration of skeletal dysplasia using targeted exome sequencing.
Genet Med
2016
1 - 50 of 80
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Collaborators
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Samsung Genome Institute, Samsung Medical Center
Co-authored papers
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Jeeyun Lee
Samsung Medical Center, Sungkyunkwan University School of Medicine
Co-authored papers
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Seoul National University College of Medicine
Co-authored papers
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Co-authored papers
10
Hae-Ock Lee
College of Medicine, The Catholic University of Korea
Co-authored papers
9
Sung Tae Kim
Busan Paik Hospital, Inje University
Co-authored papers
9
Joon Seol Bae
Research Institute of Future Medicine, Samsung Medical Center
Co-authored papers
6
Sun Young Kim
Asan Medical Center, University of Ulsan College of Medicine
Co-authored papers
4
Jung-Il Lee
Gangnam Severance Hospital
Co-authored papers
4
Dongsup Kim
Korea Advanced Institute of Science and Technology
Co-authored papers
3
Peter J Park
Harvard Medical School
Co-authored papers
3
Min Gew Choi
Research Institute, National Cancer Center
Co-authored papers
3
Jung Won Choi
Samsung Medical Center, Sungkyunkwan University School of Medicine
Co-authored papers
3
Matthew Meyerson
Broad Institute
Co-authored papers
2
Hyemi Shin
Research Institute for Future Medicine, Samsung Medical Center
Co-authored papers
2
Jeong Eon Lee
Samsung Medical Center, Sungkyunkwan University School of Medicine
Co-authored papers
2
Kyu-Tae Kim
Ajou University
Co-authored papers
2
Gyu Ha Ryu
Sungkyunkwan University
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Samsung Medical Center, Sungkyunkwan University School of Medicine
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