Publications by authors named "Go-Hun Seo"

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Clinical utility of genome sequencing in rare diseases: lessons from a single-center study of 1,452 Korean families.
Seungbok Lee, Go Hun Seo, Soo Yeon Kim, Se Song Jang, Seoyun Jang, Dongseok Moon, Seokhui Jang

NPJ Genom Med· December 2025

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The importance and clinical utility of reanalysis of exome and genome sequencing data.
Dongseok Moon, Go Hun Seo

Kidney Res Clin Pract· November 2025

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Novel SYK Variant Causes Enhanced SYK Autophosphorylation and PI3K Activation in an Antibody-Deficient Patient.
Emily S J Edwards, Josh Chatelier, Gregory I Snell, Go Hun Seo, Rin Khang

J Clin Immunol· October 2025

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Correction: ELMO2-related intraosseous vascular malformation: new cases with novel pathogenic variants, clinical follow-up and therapeutic approaches.
Mert Karakaya, Iman Ragab, Vera Riehmer, Florian Erger, Nihal Hussien Aly, Go Hun Seo

Eur J Hum Genet· October 2025

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Expanding genetic and clinical spectra of β-tubulinopathies: A Korean study.
Soojin Hwang, Hyunwoo Bae, Dohyung Kim, Mi-Sun Yum, Min-Jee Kim, Go Hun Seo

J Hum Genet· October 2025

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Genomic Insights into Short Stature in Children Born Small for Gestational Age: A Korean Multicenter Exome Study.
Yena Lee, Hwal Rim Jeong, Eun Young Kim, Eu-Seon Noh, Hye Young Jin, Young-Jun Seo, Go Hun Seo

J Clin Endocrinol Metab· September 2025

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Biparental and Androgenetic Somatic Mosaicism with Presentation of Non-Syndromic Severe Neonatal Hyperinsulinemia.
Miguel Angel Alcántara-Ortigoza, Marcela Vela-Amieva, Ariadna González-Del Angel, Miriam Erandi Reyna-Fabián, Liliana Fernández-Hernández, Go Hun-Seo

Int J Mol Sci· August 2025

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Situs Inversus in an Infant With Hypomandibular Faciocranial Syndrome: Clinical Overlap With the Agnathia-Otocephaly Complex.
Jorge Román Corona-Rivera, Rocio Carolina Cortés-Pastrana, Natalia Navia-Espinoza, Alexandra María Claro-Marín, Ana Fátima Martínez-Torres, Go Hun Seo

Am J Med Genet A· July 2025

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Synergistic decontamination of Salmonella spp. in raw almonds using phytic acid and drying as an eco-friendly alternative to propylene oxide.
Go Hun Seo, Hary Yu, Min Suk Rhee

Food Res Int· July 2025

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Clinical implementation of a multidisciplinary pipeline for genome sequencing in rare diseases: A prospective, multicenter, observational cohort study.
Soojin Hwang, Go Hun Seo, In Hee Choi, Seung-Woo Ryue, Ji Young Oh, Hoon Seok Kim, Dongseok Moon, Seokhui Jang, Seo Yeon Yang

Clin Transl Med· July 2025

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Transcript Long-Read Sequencing Unveils the Molecular Complexity of a Novel ROGDI Splicing Variant in a Tunisian Family With Kohlschütter-Tönz Syndrome.
Miriam Essid, Sana Karoui, Mouna Zribi, Thouraya Ben Younes, Louis Januel, Go Hun Seo

Clin Genet· June 2025

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Hereditary, non HINT1 related, axonal neuropathy with neuromyotonia.
Kanellos C Spiliopoulos, Dimitra Veltsista, Eirini Veltsou, Valentini Tzimogianni, Go Hun Seo

Neurol Sci· June 2025

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consequences of varying degrees of alteration elucidated using knock-in mouse models and pseudogene contamination-free long-read sequencing.
Ju Ang Kim, Bong Jik Kim, Chung Lee, Go Hun Seo, Hane Lee

Genes Dis· May 2025

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Beyond CHD7 gene: unveiling genetic diversity in clinically suspected CHARGE syndrome.
Dohyung Kim, Ji-Hee Yoon, Hyunwoo Bae, Soojin Hwang, Go Hun Seo, Young Seok Ju

J Hum Genet· May 2025

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Clinical and genetic characterization of a progressive RBL2-associated neurodevelopmental disorder.
Gabriel N Aughey, Elisa Cali, Reza Maroofian, Maha S Zaki, Alistair T Pagnamenta, Go Hun Seo

Brain· April 2025

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Genome Sequencing of Rare Disease Patients Through the Korean Regional Rare Disease Diagnostic Support Program.
Rin Khang, Hane Lee, Jihye Kim, Dongseok Moon, Seokhui Jang, Won Seop Kim, Go Hun Seo

Hum Mutat· April 2025

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ELMO2-related intraosseous vascular malformation: new cases with novel pathogenic variants, clinical follow-up and therapeutic approaches.
Mert Karakaya, Iman Ragab, Vera Riehmer, Florian Erger, Nihal Hussien Aly, Go Hun Seo

Eur J Hum Genet· March 2025

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Genetic variants in NHEJ1 and related DNA repair disorders: insights into phenotypic heterogeneity and links to hypoplastic myelodysplastic syndromes and familial hematological malignancies susceptibility.
Mahmoud I Elbadry, Elsayed Abdelkreem, Ahmed Tawfeek, Go Hun Seo, Shereen Philip Aziz

Ann Hematol· March 2025

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Corneal Myofibromatous and Pterygium-Like Changes in a Family With a PDGFRB Variant.
Irving M Raber, Ashley Khalili, Rin Khang, Preema M Buch, Ralph C Eagle, Go Hun Seo

Cornea· February 2025

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A Korean Patient With Leber Congenital Amaurosis and a Homozygous RPE65 Variant Originating From a Paternal Uniparental Isodisomy.
Hane Lee, Dongseok Moon, Rin Khang, Go Hun Seo, Chang Ki Yoon

Mol Genet Genomic Med· January 2025

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Exome sequencing of 18,994 ethnically diverse patients with suspected rare Mendelian disorders.
Heonjong Han, Go Hun Seo, Seong-In Hyun, Kisang Kwon, Seung Woo Ryu

NPJ Genom Med· January 2025

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Case Report: The first Korean familial case of -related deafness, dystonia, and cerebral hypomyelination.
Yoong-A Suh, Jisun Hwang, Go Hun Seo, Rin Khang, Jang Hoon Lee

Front Pediatr· January 2025

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Role of Genetic Testing in Diagnosis and Prognosis Prediction in Hypertrophic Cardiomyopathy in Korea.
Seo-Yeon Gwak, Jiwon Seo, Go Hun Seo, Jiyoung Oh, Hyun-Jung Lee

J Korean Med Sci· December 2024

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Exploring molecular spectrum in thai patients with maple syrup urine disease: unveiling a common variant.
Panisara Lakkhana, Thipwimol Tim-Aroon, Arthaporn Khongkraparn, Saisuda Noojarern, Parith Wongkittichote, GoHun Seo

Orphanet J Rare Dis· October 2024

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Genetic investigations on singleton school aged children reveal novel variants and new candidate genes for hearing loss.
Hina Khan, Fariha Muzaffar, Midhat Salman, Rasheeda Bashir, Go Hun Seo

Sci Rep· September 2024

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