The rare association of congenital glaucoma, giant melanocytic nevus, alopecia, and hypospadias in an Egyptian child with neurofibromatosis type 1: a case report by Abdelrahim A. Sadek, Mohammed A. Aladawy, Tarek M. M. Mansour, Khulood M. Sayed, Rin Khang, Elsayed Abdelkreem

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Case Report: The first Korean familial case of BCAP31-related deafness, dystonia, and cerebral hypomyelination by Yoong-A Suh, Jisun Hwang, Go Hun Seo, Rin Khang, Jang Hoon Lee, Moon Sung Park, Young Bae Sohn

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A Korean Patient With Leber Congenital Amaurosis and a Homozygous RPE65 Variant Originating From a Paternal Uniparental Isodisomy by Hane Lee, Dongseok Moon, Rin Khang, Go Hun Seo, Chang Ki Yoon, Un Chul Park, Kyu Hyung Park, Eun Kyoung Lee

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

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Maternal mosaicism in SSBP1 causing optic atrophy with retinal degeneration: implications for genetic counseling by Yin-Hsi Chang, Eugene Yu-Chuan Kang, Laura Liu, Laura A. Jenny, Rin Khang, Go Hun Seo, Hane Lee, Kuan-Jen Chen, Wei-Chi Wu, Meng-Chang Hsiao, Nan-Kai Wang

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Case report: novel PCDH15 variant causes usher syndrome type 1F with congenital hearing loss and syndromic retinitis pigmentosa by Nelson Chen, Hane Lee, Angela H. Kim, Pei-Kang Liu, Eugene Yu-Chuan Kang, Yun-Ju Tseng, Go Hun Seo, Rin Khang, Laura Liu, Kuan-Jen Chen, We-Chi Wu, Meng-Chang Hsiao, Nan-Kai Wang

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Exome sequencing of 18,994 ethnically diverse patients with suspected rare Mendelian disorders by Heonjong Han, Go Hun Seo, Seong-In Hyun, Kisang Kwon, Seung Woo Ryu, Rin Khang, Eugene Lee, JiHye Kim, Yongjun Song, Won Chan Jeong, Joohyun Han, Dong-wook Kim, Soyeon Yang, Sohyun Lee, Sohyun Jang, Jungsul Lee, Hane Lee

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Loss of zinc-finger protein 212 leads to Purkinje cell death and locomotive abnormalities with phospholipase D3 downregulation by Rin Khang, Areum Jo, Hojin Kang, Hanna Kim, Eunsang Kwag, Ji-Yeong Lee, Okjae Koo, Jinsu Park, Hark Kyun Kim, Dong-Gyu Jo, Inwoo Hwang, Jee-Yin Ahn, Yunjong Lee, Jeong-Yun Choi, Yun-Song Lee, Joo-Ho Shin

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Whole exome sequencing identified five novel variants in CNTN2, CARS2, ARSA, and CLCN4 leading to epilepsy in consanguineous families by Angham Abdulrhman Abdulkareem, Angham Abdulrhman Abdulkareem, Qaiser Zaman, Qaiser Zaman, Qaiser Zaman, Hamza Khan, Sabar Khan, Gauhar Rehman, Nabeel Tariq, Mashal Ahmad, Muhammad Owais, Najumuddin, Osama Yousef Muthaffar, Fehmida Bibi, Fehmida Bibi, Rin Khang, Seung Woo Ryu, Muhammad Imran Naseer, Muhammad Imran Naseer, Musharraf Jelani

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