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Two Korean girls with complete androgen insensitivity syndrome diagnosed in infancy.

Heo YJ, Ko JM, Lee YA, Shin CH, Yang SW, Kim MJ, Park SS.

Ann Pediatr Endocrinol Metab. 2018 Dec;23(4):220-225. doi: 10.6065/apem.2018.23.4.220. Epub 2018 Dec 31.


Rebound effect associated with JAK inhibitor use in the treatment of alopecia areata.

Gordon SC, Abudu M, Zancanaro P, Ko JM, Rosmarin D.

J Eur Acad Dermatol Venereol. 2018 Dec 6. doi: 10.1111/jdv.15383. [Epub ahead of print] No abstract available.


Establishment and characterization of new tumor xenografts and cancer cell lines from EBV-positive nasopharyngeal carcinoma.

Lin W, Yip YL, Jia L, Deng W, Zheng H, Dai W, Ko JMY, Lo KW, Chung GTY, Yip KY, Lee SD, Kwan JS, Zhang J, Liu T, Chan JY, Kwong DL, Lee VH, Nicholls JM, Busson P, Liu X, Chiang AKS, Hui KF, Kwok H, Cheung ST, Cheung YC, Chan CK, Li B, Cheung AL, Hau PM, Zhou Y, Tsang CM, Middeldorp J, Chen H, Lung ML, Tsao SW.

Nat Commun. 2018 Nov 7;9(1):4663. doi: 10.1038/s41467-018-06889-5.


Isolation and identification of α-glucosidase inhibitory constituents from the seeds of Vigna nakashimae: Enzyme kinetic study with active phytochemical.

Ha TJ, Bo Song S, Ko J, Park CH, Ko JM, Choe ME, Kwak DY, Lee JH.

Food Chem. 2018 Nov 15;266:483-489. doi: 10.1016/j.foodchem.2018.06.039. Epub 2018 Jun 15.


A 3-Month-Old Boy With Progressive Weakness.

Kim SY, Ko JM, Choi SA, Cho A, Lee JS, Lim BC, Kim KJ, Chae JH.

Brain Pathol. 2018 Sep;28(5):773-774. doi: 10.1111/bpa.12651. No abstract available.


Cutaneous Skeletal Hypophosphatemia Syndrome in Association with a Mosaic HRAS Mutation.

Park PG, Park E, Hyun HS, Kang HG, Ha IS, Cho TJ, Ko JM, Cheong HI.

Ann Clin Lab Sci. 2018 Sep;48(5):665-669.


DeviCNV: detection and visualization of exon-level copy number variants in targeted next-generation sequencing data.

Kang Y, Nam SH, Park KS, Kim Y, Kim JW, Lee E, Ko JM, Lee KA, Park I.

BMC Bioinformatics. 2018 Oct 16;19(1):381. doi: 10.1186/s12859-018-2409-6.


Implementation and evaluation of Stanford Health Care store-and-forward teledermatology consultation workflow built within an existing electronic health record system.

Kim GE, Afanasiev OK, O'Dell C, Sharp C, Ko JM.

J Telemed Telecare. 2018 Oct 9:1357633X18799805. doi: 10.1177/1357633X18799805. [Epub ahead of print]


Chemotherapeutic Treatments Increase PD-L1 Expression in Esophageal Squamous Cell Carcinoma through EGFR/ERK Activation.

Ng HY, Li J, Tao L, Lam AK, Chan KW, Ko JMY, Yu VZ, Wong M, Li B, Lung ML.

Transl Oncol. 2018 Dec;11(6):1323-1333. doi: 10.1016/j.tranon.2018.08.005. Epub 2018 Aug 31.


Physical Activity-Related Drivers of Perceived Health Status in Adults With Congenital Heart Disease.

Ko JM, White KS, Kovacs AH, Tecson KM, Apers S, Luyckx K, Thomet C, Budts W, Enomoto J, Sluman MA, Wang JK, Jackson JL, Khairy P, Cook SC, Subramanyan R, Alday L, Eriksen K, Dellborg M, Berghammer M, Johansson B, Mackie AS, Menahem S, Caruana M, Veldtman G, Soufi A, Fernandes SM, Callus E, Kutty S, Gandhi A, Moons P, Cedars AM; APPROACH-IS consortium and International Society for Adult Congenital Heart Disease (ISACHD).

Am J Cardiol. 2018 Oct 15;122(8):1437-1442. doi: 10.1016/j.amjcard.2018.06.056. Epub 2018 Jul 17.


Clinical Features of Multiple Acyl-CoA Dehydrogenase Deficiency With ETFDH Variants in the First Korean Cases.

Kim YJ, Ko JM, Song J, Lee KA.

Ann Lab Med. 2018 Nov;38(6):616-618. doi: 10.3343/alm.2018.38.6.616. No abstract available.


Leukocyte telomere length associates with nasopharyngeal carcinoma risk and survival in Hong Kong Chinese.

Ko JM, Tsang KH, Dai W, Choi SSA, Leong MM, Ngan RK, Kwong DL, Cheng A, Lee AW, Ng WT, Tung S, Lee VH, Lam KO, Chan CK, Lung ML.

Int J Cancer. 2018 Nov 1;143(9):2289-2298. doi: 10.1002/ijc.31617. Epub 2018 Aug 7.


A New Integrated Newborn Screening Workflow Can Provide a Shortcut to Differential Diagnosis and Confirmation of Inherited Metabolic Diseases.

Ko JM, Park KS, Kang Y, Nam SH, Kim Y, Park I, Chae HW, Lee SM, Lee KA, Kim JW.

Yonsei Med J. 2018 Jul;59(5):652-661. doi: 10.3349/ymj.2018.59.5.652.


Low prevalence of argininosuccinate lyase deficiency among inherited urea cycle disorders in Korea.

Kim D, Ko JM, Kim YM, Seo GH, Kim GH, Lee BH, Yoo HW.

J Hum Genet. 2018 Jul;63(8):911-917. doi: 10.1038/s10038-018-0467-2. Epub 2018 May 17.


Effects of regular Taekwondo exercise on mood changes in children from multicultural families in South Korea: a pilot study.

Yang JS, Ko JM, Roh HT.

J Phys Ther Sci. 2018 Apr;30(4):496-499. doi: 10.1589/jpts.30.496. Epub 2018 Apr 13.


Chromosomal Microarray: Application for Congenital Heart Diseases.

Ko JM.

Korean Circ J. 2018 Mar;48(3):233-235. doi: 10.4070/kcj.2018.0032. No abstract available.


A case of an infant suspected as IMAGE syndrome who were finally diagnosed with MIRAGE syndrome by targeted Mendelian exome sequencing.

Kim YM, Seo GH, Kim GH, Ko JM, Choi JH, Yoo HW.

BMC Med Genet. 2018 Mar 5;19(1):35. doi: 10.1186/s12881-018-0546-4.


A Novel Homozygous LIPA Mutation in a Korean Child with Lysosomal Acid Lipase Deficiency.

Kim KY, Kim JW, Lee KJ, Park E, Kang GH, Choi YH, Kim WS, Ko JM, Moon JS, Ko JS.

Pediatr Gastroenterol Hepatol Nutr. 2017 Dec;20(4):263-267. doi: 10.5223/pghn.2017.20.4.263. Epub 2017 Dec 22.


Elevated levels of serum nidogen-2 in esophageal squamous cell carcinoma.

Chai AWY, Cheung AKL, Dai W, Ko JMY, Lee NPY, Chan KT, Law SY, Lung ML.

Cancer Biomark. 2018 Feb 14;21(3):583-590. doi: 10.3233/CBM-170484.


Loss of podocalyxin causes a novel syndromic type of congenital nephrotic syndrome.

Kang HG, Lee M, Lee KB, Hughes M, Kwon BS, Lee S, McNagny KM, Ahn YH, Ko JM, Ha IS, Choi M, Cheong HI.

Exp Mol Med. 2017 Dec 15;49(12):e414. doi: 10.1038/emm.2017.227.


Clinical and Psychological Drivers of Perceived Health Status in Adults With Congenital Heart Disease.

Ko JM, Tecson KM, Rashida VA, Sodhi S, Saef J, Mufti M, White KS, Ludbrook PA, Cedars AM.

Am J Cardiol. 2018 Feb 1;121(3):377-381. doi: 10.1016/j.amjcard.2017.10.038. Epub 2017 Nov 3.


Gel-based and gel-free proteome data associated with controlled deterioration treatment of Glycine max seeds.

Min CW, Lee SH, Cheon YE, Han WY, Ko JM, Kang HW, Kim YC, Agrawal GK, Rakwal R, Gupta R, Kim ST.

Data Brief. 2017 Oct 2;15:449-453. doi: 10.1016/j.dib.2017.09.056. eCollection 2017 Dec.


Correlation between computed tomography imaging and histopathology in pleomorphic adenoma of parotid gland.

Kim H, Kim SY, Kim YJ, Ko JM, Park MJ, Kim JH, Hah JH, Kwon TK, Kim KH, Sung MW.

Auris Nasus Larynx. 2018 Aug;45(4):783-790. doi: 10.1016/j.anl.2017.09.013. Epub 2017 Oct 18.


Crowdsourcing dermatology: DataDerm, big data analytics, and machine learning technology.

Park AJ, Ko JM, Swerlick RA.

J Am Acad Dermatol. 2018 Mar;78(3):643-644. doi: 10.1016/j.jaad.2017.08.053. Epub 2017 Oct 15. No abstract available.


Clinical characteristics and mutation spectrum of GLA in Korean patients with Fabry disease by a nationwide survey: Underdiagnosis of late-onset phenotype.

Choi JH, Lee BH, Heo SH, Kim GH, Kim YM, Kim DS, Ko JM, Sohn YB, Hong YH, Lee DH, Kook H, Lim HH, Kim KH, Kim WS, Hong GR, Kim SH, Park SH, Kim CD, Kim SM, Seo JS, Yoo HW.

Medicine (Baltimore). 2017 Jul;96(29):e7387. doi: 10.1097/MD.0000000000007387.


In-depth proteomic analysis of Glycine max seeds during controlled deterioration treatment reveals a shift in seed metabolism.

Min CW, Lee SH, Cheon YE, Han WY, Ko JM, Kang HW, Kim YC, Agrawal GK, Rakwal R, Gupta R, Kim ST.

J Proteomics. 2017 Oct 3;169:125-135. doi: 10.1016/j.jprot.2017.06.022. Epub 2017 Jun 29.


Whole-exome sequencing reveals critical genes underlying metastasis in oesophageal squamous cell carcinoma.

Dai W, Ko JMY, Choi SSA, Yu Z, Ning L, Zheng H, Gopalan V, Chan KT, Lee NP, Chan KW, Law SY, Lam AK, Lung ML.

J Pathol. 2017 Aug;242(4):500-510. doi: 10.1002/path.4925. Epub 2017 Jul 12.


Succinct workflows for circulating tumor cells after enrichment: From systematic counting to mutational profiling.

Wong VC, Ko JM, Lam CT, Lung ML.

PLoS One. 2017 May 8;12(5):e0177276. doi: 10.1371/journal.pone.0177276. eCollection 2017.


Comparison of consumer perception and liking of bulgogi marinade sauces between Korea and Japan using flash profiling.

Park HJ, Ko JM, Jang SH, Hong JH.

Food Sci Biotechnol. 2017 Apr 30;26(2):427-434. doi: 10.1007/s10068-017-0058-6. eCollection 2017.


Korean Monozygotic Twins with Lethal Acantholytic Epidermolysis Bullosa Caused by Two Novel DSP Mutations.

Kim SJ, Ko JM, Shin SH, Kim EK, Kim HS, Lee KA.

Ann Clin Lab Sci. 2017 Mar;47(2):213-216.


Novel SLC37A4 Mutations in Korean Patients With Glycogen Storage Disease Ib.

Choi R, Park HD, Ko JM, Lee J, Lee DH, Hong SJ, Ki CS, Lee SY, Kim JW, Song J, Choe YH.

Ann Lab Med. 2017 May;37(3):261-266. doi: 10.3343/alm.2017.37.3.261.


Kinetin Improves Barrier Function of the Skin by Modulating Keratinocyte Differentiation Markers.

An S, Cha HJ, Ko JM, Han H, Kim SY, Kim KS, Lee SJ, An IS, Kim S, Youn HJ, Ahn KJ, Kim SY.

Ann Dermatol. 2017 Feb;29(1):6-12. doi: 10.5021/ad.2017.29.1.6. Epub 2017 Feb 2.


Metastasis-suppressing NID2, an epigenetically-silenced gene, in the pathogenesis of nasopharyngeal carcinoma and esophageal squamous cell carcinoma.

Chai AW, Cheung AK, Dai W, Ko JM, Ip JC, Chan KW, Kwong DL, Ng WT, Lee AW, Ngan RK, Yau CC, Tung SY, Lee VH, Lam AK, Pillai S, Law S, Lung ML.

Oncotarget. 2016 Nov 29;7(48):78859-78871. doi: 10.18632/oncotarget.12889.


Safety and efficacy of the JAK inhibitor tofacitinib citrate in patients with alopecia areata.

Kennedy Crispin M, Ko JM, Craiglow BG, Li S, Shankar G, Urban JR, Chen JC, Cerise JE, Jabbari A, Winge MC, Marinkovich MP, Christiano AM, Oro AE, King BA.

JCI Insight. 2016 Sep 22;1(15):e89776.


Depth of Pleural Effusion in Thoracentesis: Comparison of Lateral, Posterolateral and Posterior Approaches in the Supine Position.

Ko JM, Kim J, Park SA, Jin KN, Ahn MI, Kim SC, Han DH.

Iran J Radiol. 2016 Mar 12;13(2):e20919. doi: 10.5812/iranjradiol.20919. eCollection 2016 Apr.


First Korean Patients with Craniofrontonasal Syndrome Confirmed by EFNB1 Analysis.

Yoo H, Ko JM, Lim BC, Cheong HI.

Ann Clin Lab Sci. 2016 Sep;46(5):544-8.


Whole-exome sequencing identifies multiple loss-of-function mutations of NF-κB pathway regulators in nasopharyngeal carcinoma.

Zheng H, Dai W, Cheung AK, Ko JM, Kan R, Wong BW, Leong MM, Deng M, Kwok TC, Chan JY, Kwong DL, Lee AW, Ng WT, Ngan RK, Yau CC, Tung S, Lee VH, Lam KO, Kwan CK, Li WS, Yau S, Chan KW, Lung ML.

Proc Natl Acad Sci U S A. 2016 Oct 4;113(40):11283-11288. Epub 2016 Sep 19.


A 7-year-old girl presenting with a Bartter-like phenotype: Answers.

Choe Y, Park E, Hyun HS, Ko JM, Kang HG, Kim JH, Park SH, Cheong HI.

Pediatr Nephrol. 2017 Jun;32(6):983-985. doi: 10.1007/s00467-016-3480-8. Epub 2016 Aug 17. No abstract available.


A 7-year-old girl presenting with a Bartter-like phenotype: Questions.

Choe Y, Park E, Hyun HS, Ko JM, Kang HG, Kim JH, Park SH, Cheong HI.

Pediatr Nephrol. 2017 Jun;32(6):981-982. doi: 10.1007/s00467-016-3473-7. Epub 2016 Aug 17. No abstract available.


Implementation and evaluation of Stanford Health Care direct-care teledermatology program.

Pathipati AS, Ko JM.

SAGE Open Med. 2016 Jul 12;4:2050312116659089. doi: 10.1177/2050312116659089. eCollection 2016.


Targeted exome sequencing resolves allelic and the genetic heterogeneity in the genetic diagnosis of nephronophthisis-related ciliopathy.

Kang HG, Lee HK, Ahn YH, Joung JG, Nam J, Kim NK, Ko JM, Cho MH, Shin JI, Kim J, Park HW, Park YS, Ha IS, Chung WY, Lee DY, Kim SY, Park WY, Cheong HI.

Exp Mol Med. 2016 Aug 5;48:e251. doi: 10.1038/emm.2016.63.


Novel and Recurrent ACADS Mutations and Clinical Manifestations Observed in Korean Patients with Short-chain Acyl-coenzyme a Dehydrogenase Deficiency.

Kim YM, Cheon CK, Park KH, Park S, Kim GH, Yoo HW, Lee KA, Ko JM.

Ann Clin Lab Sci. 2016 Jul;46(4):360-6.


Corrigendum to "A Versatile Orthotopic Nude Mouse Model for Study of Esophageal Squamous Cell Carcinoma".

Ip JC, Ko JM, Yu VZ, Chan KW, Lam AK, Law S, Tong DK, Lung ML.

Biomed Res Int. 2016;2016:2348673. Epub 2016 Jul 4.


Comparison of Characteristics of Patients Undergoing Heart Transplantation at the Same Hospital in Two Different Time Periods (1997-2012 and 2013-2015).

Roberts WC, Won VS, Vasudevan A, Kapoor P, Ko JM, Meyer DM, Hall SA, Gonzalez-Stawinski GV.

Am J Cardiol. 2016 Jul 15;118(2):288-91. doi: 10.1016/j.amjcard.2016.04.031. Epub 2016 May 5.


Epigallocatechin Gallate-Mediated Alteration of the MicroRNA Expression Profile in 5α-Dihydrotestosterone-Treated Human Dermal Papilla Cells.

Shin S, Kim K, Lee MJ, Lee J, Choi S, Kim KS, Ko JM, Han H, Kim SY, Youn HJ, Ahn KJ, An IS, An S, Cha HJ.

Ann Dermatol. 2016 Jun;28(3):327-34. doi: 10.5021/ad.2016.28.3.327. Epub 2016 May 25.


Genetic Syndromes Associated with Craniosynostosis.

Ko JM.

J Korean Neurosurg Soc. 2016 May;59(3):187-91. doi: 10.3340/jkns.2016.59.3.187. Epub 2016 May 10. Review.


Pitfalls in Radiographic Interpretation of Emphysema Patients.

Baik JH, Ko JM, Park HJ.

Can Assoc Radiol J. 2016 Aug;67(3):277-83. doi: 10.1016/j.carj.2015.09.015. Epub 2016 Apr 15. Review.


Heart Rate Variability and the Efficacy of Biofeedback in Heroin Users with Depressive Symptoms.

Lin IM, Ko JM, Fan SY, Yen CF.

Clin Psychopharmacol Neurosci. 2016 May 31;14(2):168-76. doi: 10.9758/cpn.2016.14.2.168.


Mitral Valve Replacement After Failed Mitral Ring Insertion With or Without Leaflet/Chordal Repair for Pure Mitral Regurgitation.

Roberts WC, Moore M, Ko JM, Hamman BL.

Am J Cardiol. 2016 Jun 1;117(11):1790-807. doi: 10.1016/j.amjcard.2016.03.014. Epub 2016 Mar 19.


Novel Mutations in the CPT1A Gene Identified in the Patient Presenting Jaundice as the First Manifestation of Carnitine Palmitoyltransferase 1A Deficiency.

Choi JS, Yoo HW, Lee KJ, Ko JM, Moon JS, Ko JS.

Pediatr Gastroenterol Hepatol Nutr. 2016 Mar;19(1):76-81. doi: 10.5223/pghn.2016.19.1.76. Epub 2016 Mar 22.

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