Khang R - Samsung Biomedical Research Institute, Sungkyunkwan University

Seong-In Hyun,Heonjong Han, Seung Woo Ryu,Kisang Kwon,Rin Khang, Eugene Lee, Jihye Kim, Yongjun Song, Won Chan Jeong, Joohyun Han, Dongwook Kim, Ho Heon Kim,

EUROPEAN JOURNAL OF HUMAN GENETICS (2024): 636-637

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Cross-Sectional Analysis of Exome Sequencing Diagnosis in Patients with Neurologic Phenotypes Facing Barriers to Clinical Testing

Sonya Watson,Kathie J. Ngo, Hannah A. Stevens,Darice Y. Wong,Jihye Kim,Yongjun Song,Beomman Han,Seong-In Hyun,Rin Khang,Seung Woo Ryu,Eugene Lee,Gohun Seo,

NEUROLOGY-GENETICS（2024）

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Bi-allelic Genetic Variants in the Translational GTPases GTPBP1 and GTPBP2 Cause a Distinct Identical Neurodevelopmental Syndrome

Vincenzo Salpietro,Reza Maroofian,Maha S. Zaki,Jamie Wangen,Andrea Ciolfi,Sabina Barresi,Stephanie Efthymiou,Angelique Lamaze,Gabriel N. Aughey,Fuad Al Mutairi,Aboulfazl Rad,Clarissa Rocca,

The American Journal of Human Geneticsno. 1 (2024): 200-210

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Exploring Precision Medicine Through Genome Sequencing in Patients Suspected of a Rare Genetic Disorder

Soojin Hwang,Go Hun Seo, In Hee Choi, Seung-Woo Ryue,Ji Young Oh,Yoo-Mi Kim,Baik-Lin Eun,Jung Hye Byeon,Eungu Kang,Myungshin Kim,Hoon Seok Kim,Soyoung Lee,

crossref（2024）

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Deciphering the Etiology of Undiagnosed Ocular Anomalies along with Systemic Alterations in Pediatric Patients Through Whole Exome Sequencing

Miriam E. Reyna-Fabian,Liliana Fernandez-Hernandez,Sergio Enriquez-Flores,David Apam-Garduno,Carolina Prado-Larrea,Go Hun Seo,Rin Khang,Vianney Cortes-Gonzalez

SCIENTIFIC REPORTSno. 1 (2024)

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Whole Exome Sequencing Identified Five Novel Variants in CNTN2, CARS2, ARSA, and CLCN4 Leading to Epilepsy in Consanguineous Families

Angham Abdulrhman Abdulkareem,Qaiser Zaman,Hamza Khan, Sabar Khan,Gauhar Rehman, Nabeel Tariq,Mashal Ahmad,Muhammad Owais, Osama Yousef Najumuddin,Osama Yousef Muthaffar,Fehmida Bibi,Rin Khang,

Frontiers in genetics (2023)

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Farnesol Prevents Aging-Related Muscle Weakness in Mice Through Enhanced Farnesylation of Parkin-interacting Substrate

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Science Translational Medicine（2023）

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