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Erratum: Challenges and Considerations in Sequence Variant Interpretation for Mendelian Disorders.

Kim YE, Ki CS, Jang MA.

Ann Lab Med. 2019 Nov;39(6):606. doi: 10.3343/alm.2019.39.6.606.


Analysis of dementia-related gene variants in APOE ε4 noncarrying Korean patients with early-onset Alzheimer's disease.

Park JE, Kim HJ, Kim YE, Jang H, Cho SH, Kim SJ, Na DL, Won HH, Ki CS, Seo SW.

Neurobiol Aging. 2019 May 22. pii: S0197-4580(19)30144-7. doi: 10.1016/j.neurobiolaging.2019.05.009. [Epub ahead of print]


GenoType NTM-DR Performance Evaluation for Identification of Mycobacterium avium complex and Mycobacterium abscessus and Determination of Clarithromycin and Amikacin Resistance.

Huh HJ, Kim SY, Shim HJ, Kim DH, Yoo IY, Kang OK, Ki CS, Shin SY, Jhun BW, Shin SJ, Daley CL, Koh WJ, Lee NY.

J Clin Microbiol. 2019 Jun 5. pii: JCM.00516-19. doi: 10.1128/JCM.00516-19. [Epub ahead of print]


Prevalence of fragile X-associated tremor/ataxia syndrome: A survey of essential tremor patients with cerebellar signs or extrapyramidal signs.

Park JH, Jang W, Youn J, Ki CS, Kim BJ, Kim HT, Louis ED, Cho JW.

Brain Behav. 2019 Jun 3:e01337. doi: 10.1002/brb3.1337. [Epub ahead of print]


Long-term natural history of non-cavitary nodular bronchiectatic nontuberculous mycobacterial pulmonary disease.

Moon SM, Jhun BW, Baek SY, Kim S, Jeon K, Ko RE, Shin SH, Lee H, Kwon OJ, Huh HJ, Ki CS, Lee NY, Chung MJ, Lee KS, Shin SJ, Daley CL, Koh WJ.

Respir Med. 2019 May;151:1-7. doi: 10.1016/j.rmed.2019.03.014. Epub 2019 Mar 26.


Challenges and Considerations in Sequence Variant Interpretation for Mendelian Disorders.

Kim YE, Ki CS, Jang MA.

Ann Lab Med. 2019 Sep;39(5):421-429. doi: 10.3343/alm.2019.39.5.421. Review. Erratum in: Ann Lab Med. 2019 Nov;39(6):606.


A novel SMAD6 variant in a patient with severely calcified bicuspid aortic valve and thoracic aortic aneurysm.

Park JE, Park JS, Jang SY, Park SH, Kim JW, Ki CS, Kim DK.

Mol Genet Genomic Med. 2019 May;7(5):e620. doi: 10.1002/mgg3.620. Epub 2019 Mar 8.


State transitions in the substantia nigra reticulata predict the onset of motor deficits in models of progressive dopamine depletion in mice.

Willard AM, Isett BR, Whalen TC, Mastro KJ, Ki CS, Mao X, Gittis AH.

Elife. 2019 Mar 6;8. pii: e42746. doi: 10.7554/eLife.42746.


Multimodal imaging analyses in patients with genetic and sporadic forms of small vessel disease.

Kim KW, Kwon H, Kim YE, Yoon CW, Kim YJ, Kim YB, Lee JM, Yoon WT, Kim HJ, Lee JS, Jang YK, Kim Y, Jang H, Ki CS, Youn YC, Shin BS, Bang OY, Kim GM, Chung CS, Kim SJ, Na DL, Duering M, Cho H, Seo SW.

Sci Rep. 2019 Jan 28;9(1):787. doi: 10.1038/s41598-018-36580-0.


A De Novo RAPGEF2 Variant Identified in a Sporadic Amyotrophic Lateral Sclerosis Patient Impairs Microtubule Stability and Axonal Mitochondria Distribution.

Heo K, Lim SM, Nahm M, Kim YE, Oh KW, Park HT, Ki CS, Kim SH, Lee S.

Exp Neurobiol. 2018 Dec;27(6):550-563. doi: 10.5607/en.2018.27.6.550. Epub 2018 Dec 12.


Is Cross-reactivity with Nontuberculous Mycobacteria a Systematic Problem in the Xpert MTB/RIF Assay?

Huh HJ, Song DJ, Ki CS, Lee NY.

Tuberc Respir Dis (Seoul). 2019 Jan;82(1):88-89. doi: 10.4046/trd.2018.0075. No abstract available.


Genetic variants of PARK genes in Korean patients with early-onset Parkinson's disease.

Youn J, Lee C, Oh E, Park J, Kim JS, Kim HT, Cho JW, Park WY, Jang W, Ki CS.

Neurobiol Aging. 2019 Mar;75:224.e9-224.e15. doi: 10.1016/j.neurobiolaging.2018.10.030. Epub 2018 Nov 7.


De novo mutations in COL4A5 identified by whole exome sequencing in 2 girls with Alport syndrome in Korea.

Han KH, Park JE, Ki CS.

Korean J Pediatr. 2019 May;62(5):193-197. doi: 10.3345/kjp.2018.06772. Epub 2018 Nov 26.


Comparative Evaluation Between the RealStar Pneumocystis jirovecii PCR Kit and the AmpliSens Pneumocystis jirovecii (carinii)-FRT PCR Kit for Detecting P. jirovecii in Non-HIV Immunocompromised Patients.

Huh HJ, Lim KR, Ki CS, Huh K, Shim HJ, Song DJ, Kim YJ, Chung DR, Lee NY.

Ann Lab Med. 2019 Mar;39(2):176-182. doi: 10.3343/alm.2019.39.2.176.


Comparison between DiaPlexQ™ STI6 and GeneFinder™ STD I/STD II multiplex Real-time PCR Kits in the detection of six sexually transmitted disease pathogens.

Huh HJ, Ki CS, Yun SA, Lee J, Oh GY, Lee NS, Yoon YH, Lee NY.

J Clin Lab Anal. 2019 Mar;33(3):e22703. doi: 10.1002/jcla.22703. Epub 2018 Nov 2.


Cav-1 (Caveolin-1) and Arterial Remodeling in Adult Moyamoya Disease.

Chung JW, Kim DH, Oh MJ, Cho YH, Kim EH, Moon GJ, Ki CS, Cha J, Kim KH, Jeon P, Yeon JY, Kim GM, Kim JS, Hong SC, Bang OY.

Stroke. 2018 Nov;49(11):2597-2604. doi: 10.1161/STROKEAHA.118.021888.


Drug susceptibility patterns of Mycobacterium abscessus and Mycobacterium massiliense isolated from respiratory specimens.

Cho EH, Huh HJ, Song DJ, Lee SH, Kim CK, Shin SY, Ki CS, Jhun BW, Moon SM, Kwon OJ, Koh WJ, Lee NY.

Diagn Microbiol Infect Dis. 2019 Feb;93(2):107-111. doi: 10.1016/j.diagmicrobio.2018.08.008. Epub 2018 Aug 29.


The Politics of Sexual Citizenship: Negotiating Acts of Citizenship Among Non-Heterosexuals in Hong Kong.

Ki CK.

J Homosex. 2018 Sep 20:1-19. doi: 10.1080/00918369.2018.1503463. [Epub ahead of print]


Compound Heterozygous Pathogenic Variants of the 15-Hydroxyprostaglandin Dehydrogenase Gene in a Patient With Hypertrophic Osteoarthropathy: First Case in Korea.

Ryu MR, Yang JH, Rhee SY, Cho A, Kim SY, Ki CS.

Ann Lab Med. 2019 Jan;39(1):105-108. doi: 10.3343/alm.2019.39.1.105. No abstract available.


Bronchiectasis and Recurrent Respiratory Infections with a De Novo STAT1 Gain-of-Function Variant: First Case in Korea.

Huh HJ, Jhun BW, Choi SR, Kim YJ, Yun SA, Nham E, Kong T, Ki CS, Koh WJ.

Yonsei Med J. 2018 Oct;59(8):1004-1007. doi: 10.3349/ymj.2018.59.8.1004.


Nontuberculous Mycobacterial Lung Diseases Caused by Mixed Infection with Mycobacterium avium Complex and Mycobacterium abscessus Complex.

Shin SH, Jhun BW, Kim SY, Choe J, Jeon K, Huh HJ, Ki CS, Lee NY, Shin SJ, Daley CL, Koh WJ.

Antimicrob Agents Chemother. 2018 Sep 24;62(10). pii: e01105-18. doi: 10.1128/AAC.01105-18. Print 2018 Oct.


Effect of molecular weight on the structure and mechanical properties of silk sericin gel, film, and sponge.

Park CJ, Ryoo J, Ki CS, Kim JW, Kim IS, Bae DG, Um IC.

Int J Biol Macromol. 2018 Nov;119:821-832. doi: 10.1016/j.ijbiomac.2018.08.006. Epub 2018 Aug 3.


Analysis of frontotemporal dementia, amyotrophic lateral sclerosis, and other dementia-related genes in 107 Korean patients with frontotemporal dementia.

Kim EJ, Kim YE, Jang JH, Cho EH, Na DL, Seo SW, Jung NY, Jeong JH, Kwon JC, Park KH, Park KW, Lee JH, Roh JH, Kim HJ, Yoon SJ, Choi SH, Jang JW, Ki CS, Kim SH.

Neurobiol Aging. 2018 Dec;72:186.e1-186.e7. doi: 10.1016/j.neurobiolaging.2018.06.031. Epub 2018 Jun 30.


Repeated Intrathecal Mesenchymal Stem Cells for Amyotrophic Lateral Sclerosis.

Oh KW, Noh MY, Kwon MS, Kim HY, Oh SI, Park J, Kim HJ, Ki CS, Kim SH.

Ann Neurol. 2018 Sep;84(3):361-373. doi: 10.1002/ana.25302. Epub 2018 Aug 31.


A Case of Cruoricaptor ignavus Isolated From the Blood of a Patient With Ewing Sarcoma.

Oh J, Yoo IY, Song DJ, Lee JW, Kim YJ, Ki CS, Lee NY, Huh HJ.

Ann Lab Med. 2018 Nov;38(6):613-615. doi: 10.3343/alm.2018.38.6.613. No abstract available.


First Molecular Diagnosis of a Patient with Unverricht-Lundborg Disease in Korea.

Kim KH, Song JS, Park CW, Ki CS, Heo K.

Yonsei Med J. 2018 Aug;59(6):798-800. doi: 10.3349/ymj.2018.59.6.798.


The Etiologies of Chronic Progressive Cerebellar Ataxia in a Korean Population.

Kim JS, Kwon S, Ki CS, Youn J, Cho JW.

J Clin Neurol. 2018 Jul;14(3):374-380. doi: 10.3988/jcn.2018.14.3.374.


Mutations in gyrA and gyrB in Moxifloxacin-Resistant Mycobacterium avium Complex and Mycobacterium abscessus Complex Clinical Isolates.

Kim SY, Jhun BW, Moon SM, Shin SH, Jeon K, Kwon OJ, Yoo IY, Huh HJ, Ki CS, Lee NY, Shin SJ, Daley CL, Suh GY, Koh WJ.

Antimicrob Agents Chemother. 2018 Aug 27;62(9). pii: e00527-18. doi: 10.1128/AAC.00527-18. Print 2018 Sep.


Development of Macrolide Resistance and Reinfection in Refractory Mycobacterium avium Complex Lung Disease.

Jhun BW, Kim SY, Moon SM, Jeon K, Kwon OJ, Huh HJ, Ki CS, Lee NY, Shin SJ, Daley CL, Koh WJ.

Am J Respir Crit Care Med. 2018 Nov 15;198(10):1322-1330. doi: 10.1164/rccm.201802-0321OC.


Analysis of ATXN2 trinucleotide repeats in Korean patients with amyotrophic lateral sclerosis.

Kim YE, Oh KW, Noh MY, Park J, Kim HJ, Park JE, Ki CS, Kim SH.

Neurobiol Aging. 2018 Jul;67:201.e5-201.e8. doi: 10.1016/j.neurobiolaging.2018.03.019. Epub 2018 Mar 23.


Significance of circulating Epstein-Barr virus DNA monitoring after remission in patients with extranodal natural killer T cell lymphoma.

Cho J, Kim SJ, Park S, Yoo KH, Ki CS, Ko Y, Kim WS.

Ann Hematol. 2018 Aug;97(8):1427-1436. doi: 10.1007/s00277-018-3313-x. Epub 2018 Apr 8.


Prospective monitoring of adenovirus infection and type analysis after allogeneic hematopoietic cell transplantation: A single-center study in Korea.

Kang JM, Park KS, Kim JM, Huh HJ, Ki CS, Lee NY, Yoo KH, Sung KW, Koo HH, Kim YJ.

Transpl Infect Dis. 2018 Jun;20(3):e12885. doi: 10.1111/tid.12885. Epub 2018 Apr 10.


Frequency of hereditary neuropathy with liability to pressure palsies (HNPP) due to 17p11.2 deletion in a Korean newborn population.

Park JE, Noh SJ, Oh M, Cho DY, Kim SY, Ki CS.

Orphanet J Rare Dis. 2018 Mar 15;13(1):40. doi: 10.1186/s13023-018-0779-5.


Changing Epidemiology of Nontuberculous Mycobacterial Lung Diseases in a Tertiary Referral Hospital in Korea between 2001 and 2015.

Ko RE, Moon SM, Ahn S, Jhun BW, Jeon K, Kwon OJ, Huh HJ, Ki CS, Lee NY, Koh WJ.

J Korean Med Sci. 2018 Feb 19;33(8):e65. doi: 10.3346/jkms.2018.33.e65.


PITX2-related Axenfeld-Rieger Syndrome with a Novel Pathogenic Variant (c.475_476delCT).

Park JE, Lee EJ, Ki CS, Kee C.

Ann Lab Med. 2018 May;38(3):283-286. doi: 10.3343/alm.2018.38.3.283. No abstract available.


The Impact of APOE ɛ4 in Alzheimer's Disease Differs According to Age.

Kim J, Park S, Yoo H, Jang H, Kim Y, Kim KW, Jang YK, Lee JS, Kim ST, Kim S, Lee JM, Ki CS, Na DL, Seo SW, Kim HJ.

J Alzheimers Dis. 2018;61(4):1377-1385. doi: 10.3233/JAD-170556.


Treatment outcomes of macrolide-susceptible Mycobacterium abscessus lung disease.

Choi H, Jhun BW, Kim SY, Kim DH, Lee H, Jeon K, Kwon OJ, Huh HJ, Ki CS, Lee NY, Shin SJ, Daley CL, Koh WJ.

Diagn Microbiol Infect Dis. 2018 Apr;90(4):293-295. doi: 10.1016/j.diagmicrobio.2017.12.008. Epub 2017 Dec 16.


Ultrasound and clinicopathological features of papillary thyroid carcinomas with BRAF and TERT promoter mutations.

Hahn SY, Kim TH, Ki CS, Kim SW, Ahn S, Shin JH, Chung JH.

Oncotarget. 2017 Nov 14;8(65):108946-108957. doi: 10.18632/oncotarget.22430. eCollection 2017 Dec 12.


The Rap activator Gef26 regulates synaptic growth and neuronal survival via inhibition of BMP signaling.

Heo K, Nahm M, Lee MJ, Kim YE, Ki CS, Kim SH, Lee S.

Mol Brain. 2017 Dec 28;10(1):62. doi: 10.1186/s13041-017-0342-7.


Differences in drug susceptibility pattern between Mycobacterium avium and Mycobacterium intracellulare isolated in respiratory specimens.

Cho EH, Huh HJ, Song DJ, Moon SM, Lee SH, Shin SY, Kim CK, Ki CS, Koh WJ, Lee NY.

J Infect Chemother. 2018 Apr;24(4):315-318. doi: 10.1016/j.jiac.2017.10.022. Epub 2017 Dec 7.


Intermittent Antibiotic Therapy for Recurrent Nodular Bronchiectatic Mycobacterium avium Complex Lung Disease.

Jhun BW, Moon SM, Kim SY, Park HY, Jeon K, Kwon OJ, Huh HJ, Ki CS, Lee NY, Chung MJ, Lee KS, Shin SJ, Daley CL, Koh WJ.

Antimicrob Agents Chemother. 2018 Jan 25;62(2). pii: e01812-17. doi: 10.1128/AAC.01812-17. Print 2018 Feb.


Comparison of the Effect of Aliskiren Versus Negative Controls on Aortic Stiffness in Patients With Marfan Syndrome Under Treatment With Atenolol.

Hwang JW, Kim EK, Jang SY, Chung TY, Ki CS, Sung K, Kim SM, Ahn J, Carriere K, Choe YH, Chang SA, Kim DK.

Rev Esp Cardiol (Engl Ed). 2018 Sep;71(9):743-749. doi: 10.1016/j.rec.2017.10.028. Epub 2017 Dec 1. English, Spanish.


Malignant intercostal psammomatous melanotic schwannoma in a patient with Carney complex.

Kang YE, Jeong JO, Kim KH, Ki CS, Kim HJ.

Korean J Intern Med. 2018 Nov;33(6):1256-1257. doi: 10.3904/kjim.2017.139. Epub 2017 Nov 15. No abstract available.


Resistance mechanisms of linezolid-nonsusceptible enterococci in Korea: low rate of 23S rRNA mutations in Enterococcus faecium.

Lee SM, Huh HJ, Song DJ, Shim HJ, Park KS, Kang CI, Ki CS, Lee NY.

J Med Microbiol. 2017 Dec;66(12):1730-1735. doi: 10.1099/jmm.0.000637. Epub 2017 Nov 7.


HDR syndrome with a novel mutation in GATA3 mimicking a congenital X-linked stapes gusher: a case report.

Yang A, Kim J, Ki CS, Hong SH, Cho SY, Jin DK.

BMC Med Genet. 2017 Oct 26;18(1):121. doi: 10.1186/s12881-017-0484-6.


Identification of Homozygous Likely Pathogenic Variant of ALDH3A2 in a Korean Boy with Sjögren-Larsson Syndrome.

Kim JY, Kim SH, Park MJ, Kim SH, Cho WH, Choi J, Ki CS, You SJ.

Ann Lab Med. 2018 Jan;38(1):80-82. doi: 10.3343/alm.2018.38.1.80. No abstract available.


Reassessing the significance of the PAH c.158G>A (p.Arg53His) variant in patients with hyperphenylalaninemia.

Choi R, Lee J, Park HD, Park JE, Kim YH, Ki CS, Lee SY, Song J, Kim JW, Lee DH.

J Pediatr Endocrinol Metab. 2017 Oct 26;30(11):1211-1218. doi: 10.1515/jpem-2017-0158.


Nonsyndromic Peripheral Pulmonary Artery Stenosis Is Associated With Homozygosity of RNF213 p.Arg4810Lys Regardless of Co-occurrence of Moyamoya Disease.

Chang SA, Song JS, Park TK, Yang JH, Kwon WC, Kim SR, Kim SM, Cha J, Jang SY, Cho YS, Kim TJ, Bang OY, Song JY, Ki CS, Kim DK.

Chest. 2018 Feb;153(2):404-413. doi: 10.1016/j.chest.2017.09.023. Epub 2017 Sep 28.


Outcomes of Mycobacterium avium complex lung disease based on clinical phenotype.

Koh WJ, Moon SM, Kim SY, Woo MA, Kim S, Jhun BW, Park HY, Jeon K, Huh HJ, Ki CS, Lee NY, Chung MJ, Lee KS, Shin SJ, Daley CL, Kim H, Kwon OJ.

Eur Respir J. 2017 Sep 27;50(3). pii: 1602503. doi: 10.1183/13993003.02503-2016. Print 2017 Sep.


Molecular genotyping of the non-invasive encapsulated follicular variant of papillary thyroid carcinoma.

Kim TH, Lee M, Kwon AY, Choe JH, Kim JH, Kim JS, Hahn SY, Shin JH, Chung MK, Son YI, Ki CS, Yim HS, Kim YL, Chung JH, Kim SW, Oh YL.

Histopathology. 2018 Mar;72(4):648-661. doi: 10.1111/his.13401. Epub 2017 Dec 4.


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