Joonhong Park at Jeonbuk National University Medical School - Research Interests, Publications & Academic Profile - ApplyKite

Joonhong Park

Jeonbuk National University Medical School

South Korea

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Research Interests

Biostatistics

80%

Epidemiology

30%

Medical Science

100%

Rare Disease

70%

Next-generation Sequencing

50%

Genomic

40%

Hereditary Diseases

40%

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Articles20

The First Korean Case with Cardiac, Facial, and Digital Anomalies with Developmental Delay Caused by De Novo TRAF7 p.Arg655Gln Variant

Year:

2024

A Korean Family Presenting with Renal Cysts and Maturity-Onset Diabetes of the Young Caused by a Novel In-Frame Deletion of HNF1B

Year:

2024

A sensorineural hearing loss harboring novel compound heterozygous variant in the TRIOBP gene: A case report

Year:

2024

Implementing Massive Parallel Sequencing into Biliary Samples Obtained through Endoscopic Retrograde Cholangiopancreatography for Diagnosing Malignant Bile Duct Strictures

Year:

2024

Improving the Yield of Genetic Diagnosis through Additional Genetic Panel Testing in Hereditary Ophthalmic Diseases

Year:

2024

Novel compound heterozygous mutations in SCN4A as a potential genetic cause contributing to myopathic manifestations: A case report and literature review

Year:

2024

Paternally Inherited Noonan Syndrome Caused by a PTPN11 Variant May Exhibit Mild Symptoms: A Case Report and Literature Review

Year:

2024

A Comparative Investigation of the Bile Microbiome in Patients with Choledocholithiasis and Cholecystolithiasis through Metagenomic Analysis

Year:

2024

Clinical and Genetic Characteristics of Early and Advanced Gastric Cancer

Year:

2024

Evaluation of the Analytical Performance of Oncomine Lung cfDNA Assay for Detection of Plasma EGFR Mutations

Year:

2023

Accuracy Validation of the Elecsys HBsAg II Quant Assay and Its Utility in Resolving Equivocal Qualitative HBsAg Results

Year:

2023

Five Years’ Experience with Gene Panel Sequencing in Hereditary Hemolytic Anemia Screened by Routine Peripheral Blood Smear Examination

Year:

2023

Clinical Evaluation of BioFire COVID-19 Test, BioFire Respiratory Panel 2.1, and Cepheid Xpert Xpress SARS-CoV-2 Assays for Sample-to-Answer Detection of SARS-CoV-2

Year:

2023

Miyoshi Muscular Dystrophy Type 1 with Mutated DYSF Gene Misdiagnosed as Becker Muscular Dystrophy: A Case Report and Literature Review

Year:

2023

Diversity of Clinical and Molecular Characteristics in Korean Patients with 16p11.2 Microdeletion Syndrome

Year:

2023

Copy number variation analysis using next-generation sequencing identifies the CFHR3/CFHR1 deletion in atypical hemolytic uremic syndrome: a case report

Year:

2022

Targeted Panel Sequencing Identifies an Intronic c.5225-3C>G Variant of the <i>FBN1</i> Gene Causing Sporadic Marfan Syndrome with Annuloaortic Ectasia

Year:

2022

Comparison of In Silico Tools for Splice-Altering Variant Prediction Using Established Spliceogenic Variants: An End-User’s Point of View

Year:

2022

Gene Panel Sequencing Identifies a Novel RYR1 p.Ser2300Pro Variant as Candidate for Malignant Hyperthermia with Multi-Minicore Myopathy

Year:

2022

Intergenerational Influence of Gender and the DM1 Phenotype of the Transmitting Parent in Korean Myotonic Dystrophy Type 1

Year:

2022

Collaborators3

Jaehyeon Lee

Associate Professor

Seoul National University Hospital

SOUTH KOREA

Yong Gon Cho

-

SOUTH KOREA

Jung Sun Cho

-

SOUTH KOREA

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