Heui S. Jo
Chuncheon, Republic of Korea
Last Updated: 09/26/2026
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Found 21 publications
Resolving a Complex Neonatal Phenotype by Rapid Trio Whole-Genome Sequencing: A De Novo 11q14.3-q22.3 Deletion and a Splicing-Altering Synonymous ANK1 Variant.
Journal: Journal of clinical laboratory analysis
Published: February 26, 2026
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
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.
Journal: Human genomics
Published: March 18, 2024
Optimal Protocols and Management of Clinical and Genomic Data Collection to Assist in the Early Diagnosis and Treatment of Multiple Congenital Anomalies.
Journal: Children (Basel, Switzerland)
Published: August 20, 2023
Required biological time for lung maturation and duration of invasive ventilation: a Korean cohort study of very low birth weight infants.
Journal: Frontiers in pediatrics
Published: March 12, 2023
Comparative effectiveness of explainable machine learning approaches for extrauterine growth restriction classification in preterm infants using longitudinal data.
Journal: Frontiers in medicine
Published: February 15, 2023
A Preterm Infant with Feeding Aspiration Diagnosed with BOR Syndrome, Confirmed Case by Whole-Genome Sequencing and Structural Variant Calling.
Journal: Children (Basel, Switzerland)
Published: December 03, 2022
Factors to consider before implementing telemedicine protocols to manage neonatal jaundice.
Journal: Clinical and experimental pediatrics
Published: February 08, 2022
Epidemiology of Macrosomia in Korea: Growth and Development.
Journal: Journal of Korean medical science
Published: July 07, 2021
Mortality and Morbidities according to Time of Birth in Extremely Low Birth Weight Infants.
Journal: Journal of Korean medical science
Published: October 10, 2020
Last Updated: 09/26/2026