Compound Heterozygote of Point Mutation and Chromosomal Microdeletion Involving OTUD6B Coinciding with ZMIZ1 Variant in Syndromic Intellectual Disability von Phetthong, Tim, Khongkrapan, Arthaporn, Jinawath, Natini, Seo, Go-Hun, Wattanasirichaigoon, Duangrurdee

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Phenotype categorization of neurofibromatosis type I and correlation to NF1 mutation types von Kang, Eungu, Kim, Yoon-Myung, Seo, Go Hun, Oh, Arum, Yoon, Hee Mang, Ra, Young-Shin, Kim, Eun Key, Kim, Heyry, Heo, Sun-Hee, Kim, Gu-Hwan, Osborn, Mark J, Tolar, Jakub, Yoo, Han-Wook, Lee, Beom Hee

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Diverse Genetic Landscape of Suspected Retinitis Pigmentosa in a Large Korean Cohort von Kim, Yoon-Jeon, Kim, You-Na, Yoon, Young-Hee, Seo, Eul-Ju, Seo, Go-Hun, Keum, Changwon, Lee, Beom-Hee, Lee, Joo-Yong

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Characteristic dysmorphic features in congenital disorders of glycosylation type IIb von Kim, Yoon-Myung, Seo, Go Hun, Jung, Euiseok, Jang, Ja-Hyun, Kim, Sook Za, Lee, Beom Hee

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Genomic analysis of multiplex consanguineous families reveals causes of neurodevelopmental disorders with epilepsy von Shafique, Anum, Sultan, Tipu, Alzahrani, Fatema, Hun Seo, Go, Alkuraya, Fowzan S, Naz, Sadaf

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Broad clinical spectrum and diverse outcomes of prolactinoma with pediatric onset: medication-resistant and recurrent cases von Kim, Yoo-Mi, Seo, Go Hun, Kim, Yoon-Myung, Choi, Jin-Ho, Yoo, Han-Wook

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

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Recent Advances in the Application of Antibacterial Complexes Using Essential Oils von Cho, Tae Jin, Park, Sun Min, Yu, Hary, Seo, Go Hun, Kim, Hye Won, Kim, Sun Ae, Rhee, Min Suk

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Exome and genome sequencing for diagnosing patients with suspected rare genetic disease von Seo, Go Hun, Lee, Hane

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Clinical and genetic spectra in patients with dystrophinopathy in Korea: A single-center study von Yun, UnKyu, Lee, Seung-Ah, Choi, Won Ah, Kang, Seong-Woong, Seo, Go Hun, Lee, Jung Hwan, Park, Goeun, Lee, Sujee, Choi, Young-Chul, Park, Hyung Jun

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Clinical, radiographic and molecular characterization of two unrelated families with multicentric osteolysis, nodulosis, and arthropathy von Ishaq, Tayyaba, Loid, Petra, Ishaq, Hafiza Abida, Seo, Go Hun, Mäkitie, Outi, Naz, Sadaf

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Deciphering the etiology of undiagnosed ocular anomalies along with systemic alterations in pediatric patients through whole exome sequencing von Reyna-Fabián, Miriam E., Fernández-Hernández, Liliana, Enríquez-Flores, Sergio, Apam-Garduño, David, Prado-Larrea, Carolina, Seo, Go Hun, Khang, Rin, Cortés-González, Vianney

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Improving genetic diagnosis by disease-specific, ACMG/AMP variant interpretation guidelines for hearing loss von Kim, So Young, Kim, Bong Jik, Oh, Doo Yi, Han, Jin Hee, Yi, Nayoung, Kim, Namju Justin, Park, Moo Kyun, Keum, Changwon, Seo, Go Hun, Choi, Byung Yoon

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The first Korean cases of combined oxidative phosphorylation deficiency 35 with two novel TRIT1 mutations in two siblings confirmed by clinical and molecular investigation von Yoo, Sukdong, Kim, Young A., Yoon, Ju Young, Seo, Go Hun, Keum, Changwon, Cheon, Chong Kun

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Familial focal segmental glomerulosclerosis associated with a WT1 gene missense mutation: A case report von Ko, Yun Jung, Rhie, Seonkyeong, Baek, Jihyun, Seo, Go Hun, Lee, So-Young

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Diagnostic performance of automated, streamlined, daily updated exome analysis in patients with neurodevelopmental delay von Seo, Go Hun, Lee, Hane, Lee, Jungsul, Han, Heonjong, Cho, You Kyung, Kim, Minji, Choi, Yunha, Choi, Jeongmin, Choi, In Hee, Rhie, Seonkyeong, Chae, Kyu Young, Kim, Yoo-Mi, Cheon, Chong Kun, Kim, Su Jin, Lee, Jieun, Kang, Eungu, Byeon, Jung Hye, Yu, Hee Joon, Shin, Young-Lim, Oh, Arum, Kim, Woo Jin, Yum, Mi-Sun, Lee, Beom Hee, Eun, Baik-Lin

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Phenotypic and Genetic Complexity in Pediatric Movement Disorders von Kim, Min-Jee, Yum, Mi-Sun, Seo, Go Hun, Ko, Tae-Sung, Lee, Beom Hee

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Late-onset drug resistant epilepsy in an adolescent with Allan-Herndon-Dudley syndrome von Park, Soyoung, Shin, Young-Lim, Seo, Go Hun, Hong, Yong Hee

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Empty Sella Syndrome Associated with Growth Hormone Deficiency: the First Case Report of Weiss-Kruszka Syndrome von Park, Jisun, Ha, Dong Jun, Seo, Go Hun, Maeng, Seri, Kang, Sung Mo, Kim, Sujin, Lee, Ji Eun

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Genetic heterogeneity of cardiomyopathy and its correlation with patient care von Kim, Mi Jin, Cha, Seulgi, Baek, Jae Suk, Yu, Jeong Jin, Seo, Go Hun, Kang, Minji, Do, Hyo-Sang, Lee, Sang Eun, Lee, Beom Hee

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