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NPJ Genomic Medicine|January 22, 2025
Exome sequencing of 18,994 ethnically diverse patients with suspected rare Mendelian disordersHeonjong Han, Go Hun Seo, Seong-In Hyun, et al.
Clinical Genetics|February 24, 2025
Transcript Long-Read Sequencing Unveils the Molecular Complexity of a Novel ROGDI Splicing Variant in a Tunisian Family With Kohlschütter-Tönz SyndromeMiriam Essid, Sana Karoui, Mouna Zribi, et al.
Scientific Reports|October 1, 2021
Powerful use of automated prioritization of candidate variants in genetic hearing loss with extreme etiologic heterogeneitySo Young Kim, Seungmin Lee, Go Hun Seo, et al.
Human Genetics|March 8, 2024
PKHD1L1, a gene involved in the stereocilia coat, causes autosomal recessive nonsyndromic hearing lossShelby E Redfield, Pedro De-la-Torre, Mina Zamani, et al.
Investigative Ophthalmology & Visual Science|May 4, 2022
Photoreceptor Manifestations of Primary Mitochondrial Optic Nerve DisordersYin-Hsi Chang, Eugene Yu-Chuan Kang, Pei-Kang Liu, et al.
American Journal of Medical Genetics. Part A|July 6, 2022
High frequency of genetic/epigenetic disorders in short stature children born with very low birth weightBruna Lucheze Freire, Thais Kataoka Homma, Antônio Marcondes Lerario, et al.
Clinical Genetics|June 4, 2023
Genetic diagnosis of kidney disease by whole exome sequencing and its clinical applicationJiwon Jung, Joo Hoon Lee, Go Hun Seo, et al.
Medrxiv : the Preprint Server for Health Sciences|October 24, 2023
PKHD1L1, A Gene Involved in the Stereocilia Coat, Causes Autosomal Recessive Nonsyndromic Hearing LossShelby E Redfield, Pedro De-la-Torre, Mina Zamani, et al.
NPJ Genomic Medicine|December 7, 2025
Clinical utility of genome sequencing in rare diseases: lessons from a single-center study of 1,452 Korean familiesSeungbok Lee, Go Hun Seo, Soo Yeon Kim, et al.
Frontiers in Cardiovascular Medicine|July 22, 2024
High prevalence of ALPK3 premature terminating variants in Korean hypertrophic cardiomyopathy patientsSeung Woo Ryu, Won Chan Jeong, Geu Ru Hong, et al.
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