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1 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
J Korean Med Sci.2019;34(9):e54.  Published online 2019 February 7     DOI: http://dx.doi.org/10.3346/jkms.2019.34.e54
2 Whole Exome Sequencing in the Accurate Diagnosis of Bilateral Breast Cancer: a Case Study
Xiaoling Li, Mei Yang, Qiangzu Zhang, Yanhui Fan, Teng Zhu, Fulong Chen, Kun Wang
J Breast Cancer.2019;22(1):131-140.   Published online 2019 February 2     DOI: http://dx.doi.org/10.4048/jbc.2019.22.e10
3 Genetic Analysis of CLCN7 in an Old Female Patient with Type II Autosomal Dominant Osteopetrosis
Seon Young Kim, Younghak Lee, Yea Eun Kang, Ji Min Kim, Kyong Hye Joung, Ju Hee Lee, Koon Soon Kim, Hyun Jin Kim, Bon Jeong Ku, Minho Shong, Hyon-Seung Yi
Endocrinol Metab.2018;33(3):380-386.   Published online 2018 September 18     DOI: http://dx.doi.org/10.3803/EnM.2018.33.3.380
4 Association of CDKAL1 Polymorphisms with Early-Onset Atopic Dermatitis in Koreans
Won Il Heo, Kui Young Park, Mi-Kyung Lee, Ju Hee Kim, Nam Ju Moon, Seong Jun Seo
Ann Dermatol.2018;30(3):276-283.   Published online 2018 April 23     DOI: http://dx.doi.org/10.5021/ad.2018.30.3.276
5 Whole Exome Sequencing in a Korean Child with Joubert Syndrome-related Disorders
Jong Hwa Lee, In Kyung Oh, Mi Jin Yoon, Kui Hyun Yoon
Lab Med Online.2017;7(1):45-48.   Published online 2017 January 17     DOI: http://dx.doi.org/10.3343/lmo.2017.7.1.45
6 A Neonate with a PIGA c.1234C>T Mutation as a Novel Cause of Neonatal Early Infantile Epileptic Encephalopathy
Jae-kyoon Hwang, Tea-hyen Cha, Ja-hyun Jang, Hyun-Kyung Park, Chang-Ryul Kim, In Joon Seol, Hyun Ju Lee
Perinatology.2016;27(4):260-263.   Published online 2016 December 31     DOI: http://dx.doi.org/10.14734/PN.2016.27.4.260
7 Novel Pathogenic Variant (c.580C>T) in the CPS1 Gene in a Newborn With Carbamoyl Phosphate Synthetase 1 Deficiency Identified by Whole Exome Sequencing
Rihwa Choi, Hyung-Doo Park, Mina Yang, Chang-Seok Ki, Soo-Youn Lee, Jong-Won Kim, Junghan Song, Yun Sil Chang, Won Soon Park
Ann Lab Med.2017;37(1):58-62.   Published online 2016 November 1     DOI: http://dx.doi.org/10.3343/alm.2017.37.1.58
8 The First Korean Family With Hereditary Gelsolin Amyloidosis Caused by p.D214Y Mutation in the GSN Gene
Kyoung-Jin Park, Jong-Ho Park, June-Hee Park, Eun Bin Cho, Byoung Joon Kim, Jong-Won Kim
Ann Lab Med.2016;36(3):259-262.   Published online 2016 February 23     DOI: http://dx.doi.org/10.3343/alm.2016.36.3.259
9 Identification of Two Cases of Ciliopathy-Associated Diabetes and Their Mutation Analysis Using Whole Exome Sequencing
Min Kyeong Kim, Soo Heon Kwak, Shinae Kang, Hye Seung Jung, Young Min Cho, Seong Yeon Kim, Kyong Soo Park
Diabetes Metab J.2015;39(5):439-443.   Published online 2015 October 22     DOI: http://dx.doi.org/10.4093/dmj.2015.39.5.439
10 Novel Pathogenic Variant (c.3178G>A) in the SMC1A Gene in a Family With Cornelia de Lange Syndrome Identified by Exome Sequencing
Mi-Ae Jang, Chang-Woo Lee, Jin-Kyung Kim, Chang-Seok Ki
Ann Lab Med.2015;35(6):639-642.   Published online 2015 September 1     DOI: http://dx.doi.org/10.3343/alm.2015.35.6.639
11 Identification of a Novel De Novo Variant in the PAX3 Gene in Waardenburg Syndrome by Diagnostic Exome Sequencing: The First Molecular Diagnosis in Korea
Mi-Ae Jang, Taeheon Lee, Junnam Lee, Eun-Hae Cho, Chang-Seok Ki
Ann Lab Med.2015;35(3):362-365.   Published online 2015 April 1     DOI: http://dx.doi.org/10.3343/alm.2015.35.3.362
12 A clinicogenetic model to predict lymph node invasion by use of genome-based biomarkers from exome arrays in prostate cancer patients
Jong Jin Oh, Seunghyun Park, Sang Eun Lee, Sung Kyu Hong, Sangchul Lee, Hak Min Lee, Jeung Keun Lee, Jin-Nyoung Ho, Sungroh Yoon, Seok-Soo Byun
Korean J Urol.2015;56(2):109-116.   Published online 2015 February 2     DOI: http://dx.doi.org/10.4111/kju.2015.56.2.109
13 Molecular Genetic Diagnosis of a Bethlem Myopathy Family with an Autosomal-Dominant COL6A1 Mutation, as Evidenced by Exome Sequencing
Hyung Jun Park, Young-Chul Choi, Seung Min Kim, Se Hoon Kim, Young Bin Hong, Bo Ram Yoon, Ki Wha Chung, Byung-Ok Choi
J Clin Neurol.2015;11(2):183-187.   Published online 2014 November 11     DOI: http://dx.doi.org/10.3988/jcn.2015.11.2.183
14 Novel Compound Heterozygous Nonsense PRX Mutations in a Korean Dejerine-Sottas Neuropathy Family
Ye Ji Choi, Young Se Hyun, Soo Hyun Nam, Heasoo Koo, Young Bin Hong, Ki Wha Chung, Byung-Ok Choi
J Clin Neurol.2015;11(1):92-96.   Published online 2014 November 11     DOI: http://dx.doi.org/10.3988/jcn.2015.11.1.92
15 Next Generation DNA Sequencing and Its Application in Clinical Medicine
Sechin Cho
Korean J Perinatol.2014;25(3):133-139.   Published online 2014 September 21     DOI: http://dx.doi.org/10.14734/kjp.2014.25.3.133
16 Identification of a De Novo Heterozygous Missense FLNB Mutation in Lethal Atelosteogenesis Type I by Exome Sequencing
Ga Won Jeon, Mi-Na Lee, Ji Mi Jung, Seong Yeon Hong, Young Nam Kim, Jong Beom Sin, Chang-Seok Ki
Ann Lab Med.2014;34(2):134-138.   Published online 2014 February 13     DOI: http://dx.doi.org/10.3343/alm.2014.34.2.134
17 Exome Sequencing Reveals a Novel PRPS1 Mutation in a Family with CMTX5 without Optic Atrophy
Jin Park, Young Se Hyun, Ye Jin Kim, Soo Hyun Nam, Sung-hee Kim, Young Bin Hong, Jin-Mo Park, Ki Wha Chung, Byung-Ok Choi
J Clin Neurol.2013;9(4):283-288.   Published online 2013 October 31     DOI: http://dx.doi.org/10.3988/jcn.2013.9.4.283

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