Mi-hyun Park

Cheongju-si, Republic of Korea

Last Updated: 09/26/2026

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Found 29 publications

Accelerating genetic diagnosis in the NICU: neonatologist-driven rapid whole genome sequencing.

Accelerating genetic diagnosis in the NICU: neonatologist-driven rapid whole genome sequencing.

Journal: Scientific reports

Published: August 19, 2025

Unraveling the cellular characteristics of cardiomyopathy with rare variant-driven gene signatures using multi-omics analysis.

Unraveling the cellular characteristics of cardiomyopathy with rare variant-driven gene signatures using multi-omics analysis.

Journal: Scientific reports

Published: April 25, 2025

Two novel genetic variants in the WFDC2 gene from patients with bronchiectasis.

Two novel genetic variants in the WFDC2 gene from patients with bronchiectasis.

Journal: Respiratory research

Published: January 13, 2025

Clinical implementation of a multidisciplinary pipeline for genome sequencing in rare diseases: A prospective, multicenter, observational cohort study.

Clinical implementation of a multidisciplinary pipeline for genome sequencing in rare diseases: A prospective, multicenter, observational cohort study.

Journal: Clinical and translational medicine

Published: December 17, 2024

Identification of novel MYO19 variants in neonatal hypertrophic cardiomyopathy: a familial analysis revealing oligogenic contributors to disease severity.

Identification of novel MYO19 variants in neonatal hypertrophic cardiomyopathy: a familial analysis revealing oligogenic contributors to disease severity.

Journal: Orphanet journal of rare diseases

Published: November 29, 2024

Comparative analysis of length-weight relationships and condition factors of two congeneric rockcod species from the shores of King George Island, Antarctica.

Comparative analysis of length-weight relationships and condition factors of two congeneric rockcod species from the shores of King George Island, Antarctica.

Journal: PeerJ

Published: July 30, 2024

Diagnostic Utility of Whole Genome Sequencing After Negative Karyotyping/Chromosomal Microarray in Infants Born With Multiple Congenital Anomalies.

Diagnostic Utility of Whole Genome Sequencing After Negative Karyotyping/Chromosomal Microarray in Infants Born With Multiple Congenital Anomalies.

Journal: Journal of Korean medical science

Published: March 27, 2024

Uncovering potential causal genes for undiagnosed congenital anomalies using an in-house pipeline for trio-based whole-genome sequencing.

Uncovering potential causal genes for undiagnosed congenital anomalies using an in-house pipeline for trio-based whole-genome sequencing.

Journal: Human genomics

Published: March 18, 2024

Exploring novel MYH7 gene variants using in silico analyses in Korean patients with cardiomyopathy.

Exploring novel MYH7 gene variants using in silico analyses in Korean patients with cardiomyopathy.

Journal: BMC medical genomics

Published: February 23, 2024

Optimizing coagulant dosage using deep learning models with large-scale data.

Optimizing coagulant dosage using deep learning models with large-scale data.

Journal: Chemosphere

Published: November 16, 2023

Frequency of actionable secondary findings in 7472 Korean genomes derived from the National Project of Bio Big Data pilot study.

Frequency of actionable secondary findings in 7472 Korean genomes derived from the National Project of Bio Big Data pilot study.

Journal: Human genetics

Published: August 11, 2023

Coagulant dosage determination using deep learning-based graph attention multivariate time series forecasting model.

Coagulant dosage determination using deep learning-based graph attention multivariate time series forecasting model.

Journal: Water research

Published: July 29, 2022

Showing 1-12 of 29

Last Updated: 09/26/2026