Search Results - "Seo, Go Hun"

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

Authors: Hwang, Soojin Seo, Go Hun Choi, In Hee et al.

Source: Clinical & Translational Medicine. Jul2025, Vol. 15 Issue 7, p1-7. 7p.

Hereditary, non HINT1 related, axonal neuropathy with neuromyotonia.

Authors: Spiliopoulos, Kanellos C. Veltsista, Dimitra Veltsou, Eirini et al.

Source: Neurological Sciences. Jun2025, Vol. 46 Issue 6, p2843-2846. 4p.

Subjects: Muscle weakness, Isaacs syndrome, Myelin proteins, Medical sciences, Creatine kinase

Situs Inversus in an Infant With Hypomandibular Faciocranial Syndrome: Clinical Overlap With the Agnathia‐Otocephaly Complex.

Authors: Corona‐Rivera, Jorge Román Cortés‐Pastrana, Rocio Carolina Navia‐Espinoza, Natalia et al.

Source: American Journal of Medical Genetics. Part A; Jul2025, Vol. 197 Issue 7, p1-9, 9p

A Novel Nonsense Variant in the BCL11A Gene in a Male Patient with Intellectual Disability and Epilepsy.

Authors: Kim, Seung Ho Seo, Go Hun Oh, Seung Hwan et al.

Source: Annals of Child Neurology. Jan2023, Vol. 31 Issue 1, p82-85. 4p.

Synergistic decontamination of Salmonella spp. in raw almonds using phytic acid and drying as an eco-friendly alternative to propylene oxide.

Authors: Seo, Go Hun Yu, Hary Rhee, Min Suk

Source: Food Research International. Jul2025, Vol. 212, pN.PAG-N.PAG. 1p.

Subjects: Phytic acid, Propylene oxide, Food quality, Bacterial cells, Manufacturing processes, Food pasteurization, Almond

High frequency of genetic/epigenetic disorders in short stature children born with very low birth weight.

Authors: Freire, Bruna Lucheze Homma, Thais Kataoka Lerario, Antônio Marcondes et al.

Source: American Journal of Medical Genetics. Part A; Sep2022, Vol. 188 Issue 9, p2599-2604, 6p

Whole exome sequencing identifies a novel compound heterozygous GFM1 variant underlying developmental delay, dystonia, polymicrogyria, and severe intellectual disability in a Pakhtun family.

Authors: Khan, Atta Ullah Khan, Ibrar Khan, Muhammad Ismail et al.

Source: American Journal of Medical Genetics. Part A; Sep2022, Vol. 188 Issue 9, p2693-2700, 8p

Undiagnosed disease program in South Africa: Results from first 100 exomes.

Authors: Moosa, Shahida Coetzer, Kimberly Christine Lee, Eugene et al.

Source: American Journal of Medical Genetics. Part A; Sep2022, Vol. 188 Issue 9, p2684-2692, 9p

Diagnostic performance of automated, streamlined, daily updated exome analysis in patients with neurodevelopmental delay.

Authors: Seo, Go Hun Lee, Hane Lee, Jungsul et al.

Source: Molecular Medicine. 3/26/2022, Vol. 28 Issue 1, p1-15. 15p.

Clinical application of whole exome and genome sequencing in pediatric neurodevelopmental disorders.

Authors: Lee, Keun Soo Oh, Seung Hwan Lee, Ja Young et al.

Source: Clinical & Experimental Pediatrics. May2026, Vol. 69 Issue 5, p417-427. 11p.

Diagnostic yield and clinical utility of whole exome sequencing using an automated variant prioritization system, EVIDENCE.

Authors: Seo, Go Hun Kim, Taeho Choi, In Hee et al.

Source: Clinical Genetics. Dec2020, Vol. 98 Issue 6, p562-570. 9p.

Adult-onset Krabbe disease manifesting as CharcotMarie-Tooth disease.

Authors: Lee, Jin San Jung, Jin Ho Seo, Go Hun et al.

Source: Neurology Asia. 2024, Vol. 29 Issue 1, p259-263. 5p.

Diagnosis of metachromatic leukodystrophy in a patient with regression and Phelan-McDermid syndrome.

Authors: Ahn, Hyunji Seo, Go Hun Keum, Changwon et al.

Source: Brain & Development. May2020, Vol. 42 Issue 5, p414-417. 4p.

Targeted Gene Panel Sequencing for Molecular Diagnosis of Kallmann Syndrome and Normosmic Idiopathic Hypogonadotropic Hypogonadism.

Authors: Kim, Ja Hye Seo, Go Hun Kim, Gu-Hwan et al.

Source: Experimental & Clinical Endocrinology & Diabetes. 2019, Vol. 127 Issue 8, p538-544. 7p.

First Latin American Case of MLASA2 Caused by a Pathogenic Variant in the Anticodon-Binding Domain of YARS2.

Authors: Villafán-Bernal, José Rafael Rosas-Hernández, Jhonatan García-Ortiz, Humberto et al.

Source: International Journal of Molecular Sciences. Dec2025, Vol. 26 Issue 24, p12039. 13p.

Timely Diagnosis of PAX2-Related Disorder by Rapid Whole-Genome Sequencing in a Critically Ill Neonate with Bilateral Renal Hypoplasia: A Three-Generation Case Report.

Authors: Kim, Jinhee Kim, Hyeseon Ahn, So Yoon et al.

Source: Neonatal Medicine. Nov2025, Vol. 32 Issue 2, p97-101. 5p.

Phenotypic and molecular spectra of patients with switch/sucrose nonfermenting complex-related intellectual disability disorders in Korea.

Authors: Lee, Yena Choi, Yunha Seo, Go Hun et al.

Source: BMC Medical Genomics. 10/27/2021, Vol. 14 Issue 1, p1-10. 10p.

A case of an infant suspected as IMAGE syndrome who were finally diagnosed with MIRAGE syndrome by targeted Mendelian exome sequencing.

Authors: Kim, Yoon-Myung Seo, Go Hun Kim, Gu-Hwan et al.

Source: BMC Medical Genetics. 3/5/2018, Vol. 19, p1-1. 1p.

eP123 - Clinical utility and improved speed of analysis by automated variant prioritization system in genetic hearing loss.

Authors: Seo, Go Hun Kim, So Young Kim, Bong Jik et al.

Source: Molecular Genetics & Metabolism. 2021 Supplement 1, Vol. 132, pS82-S83. 2p.

A Korean Patient With Leber Congenital Amaurosis and a Homozygous RPE65 Variant Originating From a Paternal Uniparental Isodisomy.

Authors: Lee, Hane Moon, Dongseok Khang, Rin et al.

Source: Molecular Genetics & Genomic Medicine. Jan2025, Vol. 13 Issue 1, p1-6. 6p.