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Spatiotemporal Evolution of the Primary Glioblastoma Genome

Cancer cell, 2015-09, Vol.28 (3), p.318-328

2015

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Paired genomic analysis of squamous cell carcinoma transformed from EGFR-mutated lung adenocarcinoma

Lung cancer (Amsterdam, Netherlands), 2019-08, Vol.134, p.7-15

2019

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A Single Recurrent Mutation in the 5′-UTR of IFITM5 Causes Osteogenesis Imperfecta Type V

American journal of human genetics, 2012-08, Vol.91 (2), p.343-348

2012

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Exploratory analysis of biomarkers associated with clinical outcomes from the study of palbociclib plus endocrine therapy in premenopausal women with hormone receptor-positive, HER2-negative metastatic breast cancer

Breast (Edinburgh), 2022-04, Vol.62, p.52-60

2022

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Highly dense, optically inactive silica microbeads for the isolation and identification of circulating tumor cells

Biomaterials, 2016-01, Vol.75, p.271-278

2016

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Analyzing Somatic Genome Rearrangements in Human Cancers by Using Whole-Exome Sequencing

American journal of human genetics, 2016-05, Vol.98 (5), p.843-856

2016

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Clinical characteristics of ataxia-telangiectasia presenting dystonia as a main manifestation

Clinical neurology and neurosurgery, 2020-12, Vol.199, p.106267-106267, Article 106267

2020

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BGN Mutations in X-Linked Spondyloepimetaphyseal Dysplasia

American journal of human genetics, 2016-06, Vol.98 (6), p.1243-1248

2016

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A Method to Evaluate the Quality of Clinical Gene-Panel Sequencing Data for Single-Nucleotide Variant Detection

The Journal of molecular diagnostics : JMD, 2017-09, Vol.19 (5), p.651-658

2017

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miRNA expression analysis in cortical dysplasia: Regulation of mTOR and LIS1 pathway

Epilepsy research, 2014-03, Vol.108 (3), p.433-441

2014

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Whole exome sequencing and clinical investigation of young onset dystonia: What can we learn?

Parkinsonism & related disorders, 2023-10, Vol.115, p.105814-105814, Article 105814

2023

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Whole-Exome Sequencing Identifies Mutations of KIF22 in Spondyloepimetaphyseal Dysplasia with Joint Laxity, Leptodactylic Type

American journal of human genetics, 2011-12, Vol.89 (6), p.760-766

2011

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Longitudinal multiomic profiling and corticosteroid modulation of the immediate innate immune response to an adenovirus-vector vaccine

Vaccine, 2024-11, Vol.42 (25), p.126118, Article 126118

2024

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Genomic scoring to determine clinical benefit of immunotherapy by targeted sequencing

European journal of cancer (1990), 2019-10, Vol.120, p.65-74

2019

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Genetic variants of PARK genes in Korean patients with early-onset Parkinson's disease

Neurobiology of aging, 2019-03, Vol.75, p.224.e9-224.e15

2019

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Neuronal Elav-like (Hu) Proteins Regulate RNA Splicing and Abundance to Control Glutamate Levels and Neuronal Excitability

Neuron (Cambridge, Mass.), 2012-09, Vol.75 (6), p.1067-1080

2012

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The Clinical Validity of Urinary Pellet DNA Monitoring for the Diagnosis of Recurrent Bladder Cancer

The Journal of molecular diagnostics : JMD, 2024-04, Vol.26 (4), p.278-291

2024

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ICD2Vec: Mathematical representation of diseases

Journal of biomedical informatics, 2023-05, Vol.141, p.104361-104361, Article 104361

2023

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Lighthouse in the open sea of spastic ataxia; what are the features that should not be missed in SPG11?

Parkinsonism & related disorders, 2021-10, Vol.91, p.181-183

2021

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Genome-wide association analyses using machine learning-based phenotyping reveal genetic architecture of occupational creativity and overlap with psychiatric disorders

Psychiatry research, 2024-03, Vol.333, p.115753-115753, Article 115753

2024

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Clarification of undiagnosed ataxia using whole-exome sequencing with clinical implications

Parkinsonism & related disorders, 2020-11, Vol.80, p.58-64

2020

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Mutations in PCYT1A, Encoding a Key Regulator of Phosphatidylcholine Metabolism, Cause Spondylometaphyseal Dysplasia with Cone-Rod Dystrophy

American journal of human genetics, 2014-01, Vol.94 (1), p.105-112

2014

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Identifying SYNE1 ataxia and extending the mutational spectrum in Korea

Parkinsonism & related disorders, 2019-01, Vol.58, p.74-78

2019

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IL-6 protects pancreatic islet beta cells from pro-inflammatory cytokines-induced cell death and functional impairment in vitro and in vivo

Transplant immunology, 2004-06, Vol.13 (1), p.43-53

2004

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A microchip filter device incorporating slit arrays and 3-D flow for detection of circulating tumor cells using CAV1-EpCAM conjugated microbeads

Biomaterials, 2014-08, Vol.35 (26), p.7501-7510

2014

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Spatiotemporal Evolution of the Primary Glioblastoma Genome

Paired genomic analysis of squamous cell carcinoma transformed from EGFR-mutated lung adenocarcinoma

A Single Recurrent Mutation in the 5′-UTR of IFITM5 Causes Osteogenesis Imperfecta Type V

Exploratory analysis of biomarkers associated with clinical outcomes from the study of palbociclib plus endocrine therapy in premenopausal women with hormone receptor-positive, HER2-negative metastatic breast cancer

Highly dense, optically inactive silica microbeads for the isolation and identification of circulating tumor cells

Analyzing Somatic Genome Rearrangements in Human Cancers by Using Whole-Exome Sequencing

Clinical characteristics of ataxia-telangiectasia presenting dystonia as a main manifestation

BGN Mutations in X-Linked Spondyloepimetaphyseal Dysplasia

A Method to Evaluate the Quality of Clinical Gene-Panel Sequencing Data for Single-Nucleotide Variant Detection

miRNA expression analysis in cortical dysplasia: Regulation of mTOR and LIS1 pathway

Whole exome sequencing and clinical investigation of young onset dystonia: What can we learn?

Whole-Exome Sequencing Identifies Mutations of KIF22 in Spondyloepimetaphyseal Dysplasia with Joint Laxity, Leptodactylic Type

Longitudinal multiomic profiling and corticosteroid modulation of the immediate innate immune response to an adenovirus-vector vaccine

Genomic scoring to determine clinical benefit of immunotherapy by targeted sequencing

Genetic variants of PARK genes in Korean patients with early-onset Parkinson's disease

Neuronal Elav-like (Hu) Proteins Regulate RNA Splicing and Abundance to Control Glutamate Levels and Neuronal Excitability

The Clinical Validity of Urinary Pellet DNA Monitoring for the Diagnosis of Recurrent Bladder Cancer

ICD2Vec: Mathematical representation of diseases

Lighthouse in the open sea of spastic ataxia; what are the features that should not be missed in SPG11?

Genome-wide association analyses using machine learning-based phenotyping reveal genetic architecture of occupational creativity and overlap with psychiatric disorders

Clarification of undiagnosed ataxia using whole-exome sequencing with clinical implications

Mutations in PCYT1A, Encoding a Key Regulator of Phosphatidylcholine Metabolism, Cause Spondylometaphyseal Dysplasia with Cone-Rod Dystrophy

Identifying SYNE1 ataxia and extending the mutational spectrum in Korea

IL-6 protects pancreatic islet beta cells from pro-inflammatory cytokines-induced cell death and functional impairment in vitro and in vivo

A microchip filter device incorporating slit arrays and 3-D flow for detection of circulating tumor cells using CAV1-EpCAM conjugated microbeads

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