Case Report and Review of Literature: Autosomal Recessive Hypophosphatemic Rickets Type 2 Caused by a Pathogenic Variant in ENPP1 Gene by Yunsoo Choe, Choong Ho Shin, Young Ah Lee, Man Jin Kim, Yun Jeong Lee

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Electrospray mode discrimination with current signal using deep convolutional neural network and class activation map by Man Jin Kim, Jin Yeong Song, Seok Hyeon Hwang, Dong Yong Park, Sang Min Park

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A Case of AOA2 With Compound Heterozygous SETX Mutations by Hee Jin Chang, Ryul Kim, Minchae Kim, Jangsup Moon, Man Jin Kim, Han-Joon Kim

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Utility of Next-Generation Sequencing-Based Chimerism Analysis for Early Relapse Prediction following Allogenic Hematopoietic Cell Transplantation by Heerah Lee, Seung-Won Chae, Sung Im Cho, Jee-Soo Lee, Man Jin Kim, Moon-Woo Seong

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Young-Onset Parkinson’s Disease with Impulse Control Disorder Due to Novel Variants of F-Box Only Protein 7 by Dallah Yoo, Ji-Hyun Choi, Jin-Hee Im, Man Jin Kim, Han-Joon Kim, Sung Sup Park, Beomseok Jeon

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Two Korean girls with complete androgen insensitivity syndrome diagnosed in infancy by You Jung Heo, Jung Min Ko, Young Ah Lee, Choong Ho Shin, Sei Won Yang, Man Jin Kim, Sung Sub Park

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Clinical and genetic profiling of nevoid basal cell carcinoma syndrome in Korean patients by whole-exome sequencing by Boram Kim, Man Jin Kim, Keunyoung Hur, Seong Jin Jo, Jung Min Ko, Sung Sup Park, Moon-Woo Seong, Je-Ho Mun

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Novel THPO variant in hereditary thrombocytopenia: A potential candidate variant for predisposition to myeloid neoplasm by Seok Ryun Kwon, Man Jin Kim, Young-eun Lee, Jiwon Yun, Da-jeong Jeong, Jae Hyeon Park, Sunghoon Kwon, Dong Soon Lee

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The spectrum of imaging manifestations of Gorham–Stout disease: a novel dynamic contrast-enhanced MR lymphangiography by Yuna Lee, Seunghyun Lee, Saebeom Hur, Yun Soo Jeong, Dong In Suh, Jangsup Moon, Man Jin Kim, Young Hun Choi, Jung-Eun Cheon

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Novel THPO variant in hereditary thrombocytopenia: A potential candidate variant for predisposition to myeloid neoplasm. by Seok Ryun Kwon, Man Jin Kim, Young-Eun Lee, Jiwon Yun, Da-Jeong Jeong, Jae Hyeon Park, Sunghoon Kwon, Dong Soon Lee

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Novel HEXA variants in Korean children with Tay–Sachs disease with regression of neurodevelopment from infancy by Ji Hong Park, Jung Min Ko, Min Sun Kim, Man Jin Kim, Moon‐Woo Seong, Taekyeong Yoo, Byung Chan Lim, Jong‐Hee Chae

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Fatal systemic disorder caused by biallelic variants in FARSA by Soo Yeon Kim, Saebom Ko, Hyunook Kang, Man Jin Kim, Jangsup Moon, Byung Chan Lim, Ki Joong Kim, Murim Choi, Hee-Jung Choi, Jong-Hee Chae

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A Korean Child with Schaaf-Yang Syndrome Presented with Hearing Impairment: A Case Report by Seung Hoon Lee, Seung Han Shin, Jung Min Ko, Boram Kim, Hyeon Sae Oh, Man Jin Kim, Seul Gi Park, Ee-Kyung Kim, Han-Suk Kim

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Whole Exome Sequencing Identifies Novel Genetic Alterations in Patients with Pheochromocytoma/Paraganglioma by Soo Hyun Seo, Jung Hee Kim, Man Jin Kim, Sung Im Cho, Su Jin Kim, Hyein Kang, Chan Soo Shin, Sung Sup Park, Kyu Eun Lee, Moon-Woo Seong

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Corrigendum: Clinical Characteristics and Neurologic Outcomes of X-Linked Myotubular Myopathy by Hyewon Woo, Seungbok Lee, Ji Yeon Han, Woo Joong Kim, Man Jin Kim, Moon-Woo Seong, Soo Yeon Kim, Anna Cho, Byung Chan Lim, Ki Joong Kim, Jong-Hee Chae

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Detailed analysis of phenotypes and genotypes in megalencephaly-capillary malformation-polymicrogyria syndrome caused by somatic mosaicism of PIK3CA mutations by Hyun Jin Park, Chang Ho Shin, Won Joon Yoo, Tae-Joon Cho, Man Jin Kim, Moon-Woo Seong, Sung Sup Park, Jeong Ho Lee, Nam Suk Sim, Jung Min Ko

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Clinical Characteristics and Neurologic Outcomes of X-Linked Myotubular Myopathy by Hyewon Woo, Seungbok Lee, Ji Yeon Han, Woo Joong Kim, Man Jin Kim, Moon-Woo Seong, Soo Yeon Kim, Anna Cho, Byung Chan Lim, Ki Joong Kim, Jong-Hee Chae

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Systematic analysis of inheritance pattern determination in genes that cause rare neurodevelopmental diseases by Soojin Park, Se Song Jang, Seungbok Lee, Seungbok Lee, Minsoo Kim, Hyungtai Sim, Hyeongseok Jeon, Sung Eun Hong, Jean Lee, Jeongeun Lee, Eun Young Jeon, Jeongha Lee, Cho-Rong Lee, Soo Yeon Kim, Man Jin Kim, Man Jin Kim, Jihoon G. Yoon, Byung Chan Lim, Woo Joong Kim, Ki Joong Kim, Jung Min Ko, Anna Cho, Jin Sook Lee, Murim Choi, Jong-Hee Chae, Jong-Hee Chae

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ITDetect: a method to detect internal tandem duplication of FMS-like tyrosine kinase (FLT3) from next-generation sequencing data with high sensitivity and clinical application by Sungyoung Lee, Choong-Hyun Sun, Heejun Jang, Daeyoon Kim, Sung-Soo Yoon, Youngil Koh, Seung Chan Na, Sung Im Cho, Man Jin Kim, Moon-Woo Seong, Ja Min Byun, Hongseok Yun

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2D transition metal dichalcogenides with glucan multivalency for antibody-free pathogen recognition by Tae Woog Kang, Juhee Han, Sin Lee, In-Jun Hwang, Su-Ji Jeon, Jong-Min Ju, Man-Jin Kim, Jin-Kyoung Yang, Byoengsun Jun, Chi Ho Lee, Sang Uck Lee, Jong-Ho Kim

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