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| 1 |
Tubulopathy: the clinical and genetic approach in diagnosis
Jinwoon Joung, Heeyeon Cho
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| 2 |
Rapid Targeted Genomic Testing: A Powerful Tool for Diagnostic Evaluation of Critically Ill Neonates and Infants With Suspected Genetic Diseases
Mi-Ae Jang
Ann Lab Med.2023;43(3):223-224. Published online 2022 December 22
DOI: http://dx.doi.org/10.3343/alm.2023.43.3.223
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| 3 |
First Successful Application of Preimplantation Genetic Diagnosis for Lethal Neonatal Rigidity and Multifocal Seizure Syndrome in Korea: A Case Report
Gyeong Eun Yeom, Young Hwa Jung, Soo Yeon Kim, Sun Ah Choi, Hunmin Kim, Chang Won Choi
Neonatal Med.2022;29(4):141-148. Published online 2022 November 30
DOI: http://dx.doi.org/10.5385/nm.2022.29.4.141
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| 4 |
Comprehensive Molecular Characterization of Soft Tissue Sarcoma for Prediction of Pazopanib-Based Treatment Response
Jung Yong Hong, Hee Jin Cho, Kum-Hee Yun, Young Han Lee, Seung Hyun Kim, Wooyeol Baek, Sang Kyum Kim, Yurimi Lee, Yoon-La Choi, Minsuk Kwon, Hyo Song Kim, Jeeyun Lee
Cancer Res Treat.2023;55(2):671-683. Published online 2022 September 27
DOI: http://dx.doi.org/10.4143/crt.2022.251
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| 5 |
Genetic analysis using whole-exome sequencing in pediatric chronic kidney disease: a single center's experience
Hyeonju Lee, Jeesu Min, Yo Han Ahn, Hee Gyung Kang
Child Kidney Dis.2022;26(1):40-45. Published online 2022 June 23
DOI: http://dx.doi.org/10.3339/ckd.22.025
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| 6 |
Hyaluronan Synthase 1: A Novel Candidate Gene Associated With Late-Onset Non-syndromic Hereditary Hearing Loss
Alphonse Umugire, Sungsu Lee, Chang-Joon Lee, Youngmi Choi, Taekyoung Kim, Hyong-Ho Cho
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| 7 |
Morning Glory Syndrome associated with Autosomal Dominant Alport Syndrome with a Heterozygous COL4A4 Mutation
So Jeong Kim, Jeong Eun Lee, Hyun Duck Kwak, Mi Seon Kang, Seong Ah Yu, Go Hun Seo, Seung Hwan Oh, Woo Yeong Chung
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| 8 |
Clinical Manifestations and Genetic Analysis of 5 Korean Choroideremia Patients Initially Diagnosed With Retinitis Pigmentosa
Jin Ha Kim, Jung Woo Han, Eun Woo Choi, Ji Hong Bang, Hee Jeong Shin, Mi-Ae Jang, Jong-Young Lee, Jeong Nam Choi, Hun Soo Chang, Tae Kwann Park
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| 9 |
Genomic Sequencing for Bladder Urothelial Carcinoma and Its Clinical Implications for Immunotherapy
Ryul Kim, Jung Yong Hong, Jeeyun Lee, Ghee Young Kwon, Byong Chang Jeong, Se Hoon Park
Cancer Res Treat.2022;54(3):894-906. Published online 2021 November 17
DOI: http://dx.doi.org/10.4143/crt.2021.854
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| 10 |
Whole-Exome Sequencing in Papillary Microcarcinoma: Potential Early Biomarkers of Lateral Lymph Node Metastasis
Mijin Kim, Chae Hwa Kwon, Min Hee Jang, Jeong Mi Kim, Eun Heui Kim, Yun Kyung Jeon, Sang Soo Kim, Kyung-Un Choi, In Joo Kim, Meeyoung Park, Bo Hyun Kim
Endocrinol Metab.2021;36(5):1086-1094. Published online 2021 October 28
DOI: http://dx.doi.org/10.3803/EnM.2021.1132
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| 11 |
MPV17 관련 간뇌 사립체 DNA 고갈 증후군
Ki Teak Hong, Byung Chan Lim, Jin Soo Moon, Jae Sung Ko
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| 12 |
Identification of PI3K-AKT signaling as the dominant altered pathway in intestinal type ampullary cancers through whole-exome sequencing
Niraj Kumari, Rajneesh K. Singh, Shravan K. Mishra, Narendra Krishnani, Samir Mohindra, L. Raghvendra
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| 13 |
Whole Exome Sequencing Identifies Novel Genetic Alterations in Patients with Pheochromocytoma/Paraganglioma
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
Endocrinol Metab.2020;35(4):909-917. Published online 2020 December 23
DOI: http://dx.doi.org/10.3803/EnM.2020.756
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| 14 |
A new type of oculocutaneous albinism with a novel OCA2 mutation
Sang Yoon Lee, Eun Joo Lee, Jun Chul Byun, Kyung Mi Jang, Sae Yoon Kim, Su-Kyeong Hwang
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| 15 |
Exome Chip Analysis of 14,026 Koreans Reveals Known and Newly Discovered Genetic Loci Associated with Type 2 Diabetes Mellitus
Seong Beom Cho, Jin Hwa Jang, Myung Guen Chung, Sang Cheol Kim
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| 16 |
Genetic Alterations in Preinvasive Lung Synchronous Lesions
Soyeon Ahn, Jisun Lim, Soo Young Park, Hyojin Kim, Hyun Jung Kwon, Yeon Bi Han, Choon-Taek Lee, Sukki Cho, Jin-Haeng Chung
Cancer Res Treat.2020;52(4):1120-1134. Published online 2020 June 5
DOI: http://dx.doi.org/10.4143/crt.2020.307
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| 17 |
A Preliminary Study of the Association between SOX17 Gene Variants and Intracranial Aneurysms Using Exome Sequencing
Jeong Jin Park, Bong Jun Kim, Dong Hyuk Youn, Hyuk Jai Choi, Jin Pyeong Jeon
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| 18 |
Prognostic Value of TP53 Mutation for Transcatheter Arterial Chemoembolization Failure/Refractoriness in HBV-Related Advanced Hepatocellular Carcinoma
Miao Xue, Yanqin Wu, Wenzhe Fan, Jian Guo, Jialiang Wei, Hongyu Wang, Jizhou Tan, Yu Wang, Wang Yao, Yue Zhao, Jiaping Li
Cancer Res Treat.2020;52(3):925-937. Published online 2020 March 30
DOI: http://dx.doi.org/10.4143/crt.2019.533
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| 19 |
Correlation Between Vanishing White Matter Disease and Novel Heterozygous EIF2B3 Variants Using Next-Generation Sequencing: A Case Report
Sung Eun Hyun, Byung Se Choi, Ja-Hyun Jang, Inpyo Jeon, Dae-Hyun Jang, Ju Seok Ryu
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| 20 |
Diagnostic Odyssey and Application of Targeted Exome Sequencing in the Investigation of Recurrent Infant Deaths in a Syrian Consanguineous Family: a Case of Spinal Muscular Atrophy with Respiratory Distress Type 1
Young A Kim, Hye Young Jin, Yoo-Mi Kim
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