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Kidney Research and Clinical Practice|December 4, 2025
The importance and clinical utility of reanalysis of exome and genome sequencing dataDongseok Moon, Go Hun Seo
Annals of Pediatric Endocrinology & Metabolism|January 3, 2019
Growth hormone therapy in patients with Noonan syndromeGo Hun Seo, Han-Wook Yoo
Annals of Clinical and Laboratory Science|April 24, 2023
DHX30-Associated Neurodevelopmental Disorder with Severe Motor Impairment and Absent Language: First Korean Case in Two Siblings and Literature ReviewEu Gene Park, Go Hun Seo, Aram Yang
Food Research International (Ottawa, Ont.)|May 17, 2025
Synergistic decontamination of Salmonella spp. in raw almonds using phytic acid and drying as an eco-friendly alternative to propylene oxideGo Hun Seo, Hary Yu, Min Suk Rhee
American Journal of Medical Genetics. Part A|May 26, 2022
Undiagnosed disease program in South Africa: Results from first 100 exomesShahida Moosa, Kimberly Christine Coetzer, Eugene Lee, et al.
Genes|October 23, 2021
Compound Heterozygote of Point Mutation and Chromosomal Microdeletion Involving OTUD6B Coinciding with ZMIZ1 Variant in Syndromic Intellectual DisabilityTim Phetthong, Arthaporn Khongkrapan, Natini Jinawath, et al.
Annals of Hematology|March 6, 2025
Genetic variants in NHEJ1 and related DNA repair disorders: insights into phenotypic heterogeneity and links to hypoplastic myelodysplastic syndromes and familial hematological malignancies susceptibilityMahmoud I Elbadry, Elsayed Abdelkreem, Ahmed Tawfeek, et al.
Molecular Genetics and Genomics : MGG|June 30, 2026
A CLN8 biallelic missense variant causes epilepsy with severe treatment-resistant psychosisRimsha Zulfiqar, Ambreen Kanwal, Maham Hameed, et al.
Scientific Reports|September 13, 2024
Genetic investigations on singleton school aged children reveal novel variants and new candidate genes for hearing lossHina Khan, Fariha Muzaffar, Midhat Salman, et al.
JPMA. the Journal of the Pakistan Medical Association|January 14, 2024
Familial focal segmental glomerulosclerosis associated with a WT1 gene missense mutation: A case reportYun Jung Ko, Seonkyeong Rhie, Jihyun Baek, et al.
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