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Novel genotype–phenotype correlation of functionally characterized LMX1A variants linked to sensorineural hearing loss

Human mutation, 2020-11, Vol.41 (11), p.1877-1883

2020

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Significant Mendelian genetic contribution to pediatric mild-to-moderate hearing loss and its comprehensive diagnostic approach

Genetics in medicine, 2020-06, Vol.22 (6), p.1119-1128

2020

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Rising of LOXHD1 as a signature causative gene of down-sloping hearing loss in people in their teens and 20s

Journal of medical genetics, 2022-05, Vol.59 (5), p.470-480

2022

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POLD1 variants leading to reduced polymerase activity can cause hearing loss without syndromic features

Human mutation, 2020-05, Vol.41 (5), p.913-920

2020

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The molecular etiology of deafness and auditory performance in the postlingually deafened cochlear implantees

Scientific reports, 2020-04, Vol.10 (1), p.5768-5768, Article 5768

2020

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Novel KCNQ4 variants in different functional domains confer genotype- and mechanism-based therapeutics in patients with nonsyndromic hearing loss

Experimental and Molecular Medicine, 2021, 53(0), , pp.1-13

2021

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Perifosine‐induced inhibition of akt attenuates brain‐derived neurotrophic factor/TrkB‐induced chemoresistance in neuroblastoma in vivo

Cancer, 2011-12, Vol.117 (23), p.5412-5422

2011

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One-step noninvasive prenatal testing (NIPT) for autosomal recessive homozygous point mutations using digital PCR

Scientific reports, 2018-02, Vol.8 (1), p.2877-8, Article 2877

2018

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Identification of a Potential Founder Effect of a Novel PDZD7 Variant Involved in Moderate-to-Severe Sensorineural Hearing Loss in Koreans

International journal of molecular sciences, 2019-08, Vol.20 (17), p.4174

2019

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Genetic Information and Precision Medicine in Hearing Loss

Clinical and Experimental Otorhinolaryngology, 2020, 13(4), , pp.315-317

2020

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ATP1A3 mutations can cause progressive auditory neuropathy: a new gene of auditory synaptopathy

Scientific reports, 2017-11, Vol.7 (1), p.16504-11, Article 16504

2017

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Liquid plasma promotes angiogenesis through upregulation of endothelial nitric oxide synthase-induced extracellular matrix metabolism: potential applications of liquid plasma for vascular injuries

Cell communication and signaling, 2024-02, Vol.22 (1), p.138-138, Article 138

2024

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Elucidation of the unique mutation spectrum of severe hearing loss in a Vietnamese pediatric population

Scientific reports, 2019-02, Vol.9 (1), p.1604-1604, Article 1604

2019

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Powerful use of automated prioritization of candidate variants in genetic hearing loss with extreme etiologic heterogeneity

Scientific reports, 2021-09, Vol.11 (1), p.19476-19476, Article 19476

2021

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HER2 as a novel therapeutic target for cervical cancer

Oncotarget, 2015-11, Vol.6 (34), p.36219-36230

2015

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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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Patient-Derived Xenograft Models of Epithelial Ovarian Cancer for Preclinical Studies

Cancer research and treatment, 2017-10, Vol.49 (4), p.915-926

2017

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The Analysis of A Frequent TMPRSS3 Allele Containing P.V116M and P.V291L in A Cis Configuration among Deaf Koreans

International journal of molecular sciences, 2017-10, Vol.18 (11), p.2246

2017

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Identification of a Novel Frameshift Variant of POU3F4 and Genetic Counseling of Korean Incomplete Partition Type III Subjects Based on Detailed Genotypes

Genetic testing and molecular biomarkers, 2019-06, Vol.23 (6), p.423-427

2019

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Precision medicine approaches to lung adenocarcinoma with concomitant MET and HER2 amplification

BMC cancer, 2017-08, Vol.17 (1), p.535-535, Article 535

2017

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Flexible Real-Time Polymerase Chain Reaction-Based Platforms for Detecting Deafness Mutations in Koreans: A Proposed Guideline for the Etiologic Diagnosis of Auditory Neuropathy Spectrum Disorder

Diagnostics (Basel), 2020-09, Vol.10 (9), p.672

2020

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IRS2 Amplification as a Predictive Biomarker in Response to Ceritinib in Small Cell Lung Cancer

Molecular therapy. Oncolytics, 2020-03, Vol.16, p.188-196

2020

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MET Exon 14 Skipping Mutations in Lung Adenocarcinoma: Clinicopathologic Implications and Prognostic Values

Journal of thoracic oncology, 2017-08, Vol.12 (8), p.1233-1246

2017

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House Dust Mite Allergen Der f 2-induced Phospholipase D1 Activation Is Critical for the Production of Interleukin-13 through Activating Transcription Factor-2 Activation in Human Bronchial Epithelial Cells

The Journal of biological chemistry, 2009-07, Vol.284 (30), p.20099-20110

2009

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Molecular breakdown: a comprehensive view of anaplastic lymphoma kinase (ALK)‐rearranged non‐small cell lung cancer

The Journal of pathology, 2017-11, Vol.243 (3), p.307-319

2017

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Novel genotype–phenotype correlation of functionally characterized LMX1A variants linked to sensorineural hearing loss

Significant Mendelian genetic contribution to pediatric mild-to-moderate hearing loss and its comprehensive diagnostic approach

Rising of LOXHD1 as a signature causative gene of down-sloping hearing loss in people in their teens and 20s

POLD1 variants leading to reduced polymerase activity can cause hearing loss without syndromic features

The molecular etiology of deafness and auditory performance in the postlingually deafened cochlear implantees

Novel KCNQ4 variants in different functional domains confer genotype- and mechanism-based therapeutics in patients with nonsyndromic hearing loss

Perifosine‐induced inhibition of akt attenuates brain‐derived neurotrophic factor/TrkB‐induced chemoresistance in neuroblastoma in vivo

One-step noninvasive prenatal testing (NIPT) for autosomal recessive homozygous point mutations using digital PCR

Identification of a Potential Founder Effect of a Novel PDZD7 Variant Involved in Moderate-to-Severe Sensorineural Hearing Loss in Koreans

Genetic Information and Precision Medicine in Hearing Loss

ATP1A3 mutations can cause progressive auditory neuropathy: a new gene of auditory synaptopathy

Liquid plasma promotes angiogenesis through upregulation of endothelial nitric oxide synthase-induced extracellular matrix metabolism: potential applications of liquid plasma for vascular injuries

Elucidation of the unique mutation spectrum of severe hearing loss in a Vietnamese pediatric population

Powerful use of automated prioritization of candidate variants in genetic hearing loss with extreme etiologic heterogeneity

HER2 as a novel therapeutic target for cervical cancer

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

Patient-Derived Xenograft Models of Epithelial Ovarian Cancer for Preclinical Studies

The Analysis of A Frequent TMPRSS3 Allele Containing P.V116M and P.V291L in A Cis Configuration among Deaf Koreans

Identification of a Novel Frameshift Variant of POU3F4 and Genetic Counseling of Korean Incomplete Partition Type III Subjects Based on Detailed Genotypes

Precision medicine approaches to lung adenocarcinoma with concomitant MET and HER2 amplification

Flexible Real-Time Polymerase Chain Reaction-Based Platforms for Detecting Deafness Mutations in Koreans: A Proposed Guideline for the Etiologic Diagnosis of Auditory Neuropathy Spectrum Disorder

IRS2 Amplification as a Predictive Biomarker in Response to Ceritinib in Small Cell Lung Cancer

MET Exon 14 Skipping Mutations in Lung Adenocarcinoma: Clinicopathologic Implications and Prognostic Values

House Dust Mite Allergen Der f 2-induced Phospholipase D1 Activation Is Critical for the Production of Interleukin-13 through Activating Transcription Factor-2 Activation in Human Bronchial Epithelial Cells

Molecular breakdown: a comprehensive view of anaplastic lymphoma kinase (ALK)‐rearranged non‐small cell lung cancer

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