지씨지놈 분기보고서 (2025.09)
3. 타법인출자 현황(상세)

기업공시서식 작성기준에 따라 분기보고서에서는 본 항목을 기재하지 않습니다.

4. 논문 발표 실적

No.	제목	저널	발행
년도	저자	DOI

1	Atypical teratoid rhabdoid brain tumor in an infant with ring chromosome 22	Korean J Pediatr	2014	cho eh , Park JB, Kim JK.	10.3345/kjp.2014.57.7.333

2	Frequency of DMPK mutation carriers in Korean women of childbearing age	Clin Genet	2014	Jang JH, Lee JW, cho eh, Lee EH, Kim JW, ki cs.	10.1111/cge.12310

3	A novel case of extreme thrombocytosis in acute myeloid leukemia associated with isochromosome 17q and copy neutral loss of heterozygosity	Ann Lab Med	2015	You E, Cho SY, Yang JJ, Lee HJ, Lee WI, Lee J, Cho KS, cho eh, Park TS.	10.3343/alm.2015.35.3.366

4	A Korean family with KBG syndrome identified by ANKRD11 mutation, and phenotypic comparison of ANKRD11 mutation and 16q24.3 microdeletion	Eur J Med Genet	2015	Kim HJ, Cho E, Park JB, Im WY, Kim HJ.	10.1016/j.ejmg.2014.11.003

5	The first Korean patient with Potocki-Shaffer syndrome: a rare cause of multiple exostoses	J Korean Med Sci	2015	Sohn YB, Yim SY, cho eh, Kim OH.	10.3346/jkms.2015.30.2.214

6	Identification of a Novel De Novo Variant in the PAX3 Gene in Waardenburg Syndrome by Diagnostic Exome Sequencing: The First Molecular Diagnosis in Korea	Ann Lab Med	2015	Jang MA, Lee T, Lee J, cho eh, ki cs.	10.3343/alm.2015.35.3.362

7	Mutation profiling of 19 candidate genes in acute myeloid leukemia suggests significance of DNMT3A mutations	Oncotarget	2016	Shin SY, Lee ST, Kim HJ, cho eh, Kim JW, Park S, Jung CW, Kim SH.	10.18632/oncotarget.10240

8	Identification and characterization of NF1 splicing mutations in Korean patients with neurofibromatosis type 1	J Hum Genet	2016	Jang MA, Kim YE, Kim SK, Lee MK, Kim JW, ki cs.	10.1038/jhg.2016.33

9	Temple syndrome: A patient with maternal hetero-UPD14, mixed iso- and hetero-disomy detected by SNP microarray typing of patient-father duos	Brain Dev	2016	Shin EH, Cho E, Lee CG.	10.1016/j.braindev.2016.01.008

10	Identification of a Heterozygous SPG11 Mutation by Clinical Exome Sequencing in a Patient With Hereditary Spastic Paraplegia: A Case Report	Ann Rehabil Med	2016	Oh JY, Do HJ, Lee S, Jang JH, cho eh, Jang DH.	10.5535/arm.2016.40.6.1129

11	CLEC4C p.K210del variant causes impaired cell surface transport in plasmacytoid dendritic cells of amyotrophic lateral sclerosis	Oncotarget	2016	Lim SM, Kim YE, Choi WJ, Oh KW, Noh MY, Kwon MS, Nahm M, Kim N, ki cs, Kim SH.	10.18632/oncotarget.7886

12	Identification of the KCNJ2 Mutation in a Korean Family with Andersen-Tawil Syndrome and Developmental Delay	Ann Clin Lab Sci	2016	Kim NR, Jang JH, Jeon GW, cho eh, Sin JB.	-

13	Patient fibroblasts-derived induced neurons demonstrate autonomous neuronal defects in adult-onset Krabbe disease	Oncotarget	2016	Lim SM, Choi BO, Oh SI, Choi WJ, Oh KW, Nahm M, Xue Y, Choi JH, Choi JY, Kim YE, Chung KW, Fu XD, ki cs, Kim SH.	10.18632/oncotarget.12812

14	Familial aplasia cutis congenita associated with mega-cisterna magna	Pediatr Int	2016	Lee EH, Park TS, Choi YS, cho eh.	10.1111/ped.13041

15	A novel nonsense mutation of GPR143 gene in a Korean kindred with X-linked congenital nystagmus	Int J Ophthalmol	2016	Kim US, Cho E, Kim HJ.	10.18240/ijo.2016.09.25

16	Maternally inherited autosomal dominant intellectual disability caused by 16p13.3 microduplication	Eur J Med Genet	2016	Lee CG, Cho E, Ahn YM.	10.1016/j.ejmg.2016.02.005

17	Characteristics of BRCA1/2 mutations carriers including large genomic rearrangements in high risk breast cancer patients	Breast Cancer Res Treat	2017	Park B, Sohn JY, Yoon KA, Lee KS, cho eh, Lim MC, Yang MJ, Park SJ, Lee MH, Lee SY, Chang YJ, Lee DO, Kong SY, Lee ES.	10.1007/s10549-017-4142-7

18	Novel Mutation (c.8725T>C) in Two Siblings With Late-Onset LAMA2-Related Muscular Dystrophy	Ann Lab Med	2017	Kim MW, Jang DH, Kang J, Lee S, Joo SY, Jang JH, cho eh, Choi YC, Lee JH.	10.3343/alm.2017.37.4.359

19	Genetic and functional analysis of TBK1 variants in Korean patients with sporadic amyotrophic lateral sclerosis	Neurobiol Aging	2017	Kim YE, Oh KW, Noh MY, Nahm M, Park J, Lim SM, Jang JH, cho eh, ki cs, Lee S, Kim SH.	10.1016/j.neurobiolaging.2016.11.003

20	Diagnostic yield of targeted gene panel sequencing to identify the genetic etiology of disorders of sex development	Mol Cell Endocrinol	2017	Kim JH, Kang E, Heo SH, Kim GH, Jang JH, cho eh, Lee BH, Yoo HW, Choi JH.	10.1016/j.mce.2017.01.037

21	Kallmann syndrome with a Tyr113His PROKR2 mutation	Medicine (Baltimore)	2017	Ha JH, Lee S, Kim Y, Moon JI, Seo J, Jang JH, cho eh, Kim JM, Rhee BD, Ko KS, Yoo SJ, Won JC.	10.1097/MD.0000000000007974

22	Carrier frequency of Wilson's disease in the Korean population: a DNA-based approach	J Hum Genet	2017	Jang JH, Lee T, Bang S, Kim YE, cho eh.	10.1038/jhg.2017.49

23	Identification of pathogenic variants in genes related to channelopathy and cardiomyopathy in Korean sudden cardiac arrest survivors	J Hum Genet	2017	Song JS , Kang JS, Kim YE, Park SJ, Park KM, Huh J, Kim JS, Cho H, ki cs , On YK.	10.1038/jhg.2017.8

24	Findings of a 1303 Korean whole-exome sequencing study	Exp Mol Med	2017	Kwak SH, Chae J, Choi S, Kim MJ, Choi M, Chae JH, cho eh, Hwang TJ, Jang SS, Kim JI, Park KS, Bang YJ.	10.1038/emm.2017.142

25	A De Novo RAPGEF2 Variant Identified in a Sporadic Amyotrophic Lateral Sclerosis Patient Impairs Microtubule Stability and Axonal Mitochondria Distribution	Exp Neurobiol	2018	Heo K, Lim SM, Nahm M, Kim YE, Oh KW, Park HT, ki cs, Kim SH, Lee S.	10.5607/en.2018.27.6.550

26	Analysis of frontotemporal dementia, amyotrophic lateral sclerosis, and other dementia-related genes in 107 Korean patients with frontotemporal dementia	Neurobiol Aging	2018	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.	10.1016/j.neurobiolaging.2018.06.031

27	First Molecular Diagnosis of a Patient with Unverricht-Lundborg Disease in Korea	Yonsei Med J	2018	Kim KH, Song JS, Park CW, ki cs, Heo K.	10.3349/ymj.2018.59.6.798

28	Phenotypic Analysis of Korean Patients with Abnormal Chromosomal Microarray in Patients with Unexplained Developmental Delay/Intellectual Disability	Yonsei Med J	2018	Kim HJ, Park CI, Lim JW, Lee GM, Cho E, Kim HJ.	10.3349/ymj.2018.59.3.431

29	Bronchiectasis and Recurrent Respiratory Infections with a De Novo STAT1 Gain-of-Function Variant: First Case in Korea	Yonsei Med J	2018	Huh HJ, Jhun BW, Choi SR, Kim YJ, Yun SA, Nham E, Kong T, ki cs, Koh WJ.	10.3349/ymj.2018.59.8.1004

30	Clinically significant maternal X chromosomal copy number variation detected by noninvasive prenatal test	J Obstet Gynaecol Res	2019	Kim SC, Cha DH, Jeong HR, Lee J, Jang JH, Cho EH.	10.1111/jog.14033

31	Genome-wide copy number alteration and VEGFA amplification of circulating cell-free DNA as a biomarker in advanced hepatocellular carcinoma patients treated with Sorafenib	BMC Cancer	2019	Oh CR, Kong SY, Im HS, Kim HJ, Kim MK, Yoon KA, Cho EH, Jang JH, Lee J, Kang J, Park SR, Ryoo BY.	10.1186/s12885-019-5483-x

32	Genomic analysis of Korean patients with advanced prostate cancer by use of a comprehensive next-generation sequencing panel and low-coverage, whole-genome sequencing	Investig Clin Urol	2019	Kang M, Cho E, Jang J, Lee J, Jeon Y, Jeong BC, Seo SI, Jeon SS, Lee HM, Choi HY, Jeon HG.	10.4111/icu.2019.60.4.227

33	Methylmalonic Acid and Homocysteine as Indicators of Vitamin B12 Deficiency in Patients with Gastric Cancer after Gastrectomy	Nutrients	2019	Lee SM , Oh J, Chun MR, Lee SY.	10.3390/nu11020450

34	T-Cell Receptor Rearrangements Determined Using Fragment Analysis in Patients With T-Acute Lymphoblastic Leukemia	Ann Lab Med	2019	Kim H, Kim IS, Chang CL, Kong SY, Lim YT, Kong SG, cho eh, Lee EY, Shin HJ, Park HJ, Eom HS, Lee H.	10.3343/alm.2019.39.2.125

35	Two Novel Mutations (c.883-4_890del and c.1684C>G) of WDR62 Gene Associated With Autosomal Recessive Primary Microcephaly: A Case Report	Front Pediatr	2019	Yi YG, Lee DW, Kim J, Jang JH, Lee SM, Jang DH.	10.3389/fped.2019.00457

36	Genetic variants of PARK genes in Korean patients with early-onset Parkinson's disease	Neurobiol Aging	2019	Youn J, Lee C, Oh E, Park J, Kim JS, Kim HT, Cho JW, Park WY, Jang W, ki cs.	10.1016/j.neurobiolaging.2018.10.030

37	Multimodal imaging analyses in patients with genetic and sporadic forms of small vessel disease	Sci Rep	2019	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.	10.1038/s41598-018-36580-0

38	A novel SMAD6 variant in a patient with severely calcified bicuspid aortic valve and thoracic aortic aneurysm	Mol Genet Genomic Med	2019	Park JE, Park JS, Jang SY, Park SH, Kim JW, ki cs, Kim DK.	10.1002/mgg3.620

39	Different parental origins of supernumerary X chromosomes in brothers with Klinefelter syndrome: A case report	Medicine (Baltimore)	2019	Kim SH, Park MJ, cho eh, Kim S, Yoo SJ.	10.1097/MD.0000000000017838

40	De novo mutations in COL4A5 identified by whole exome sequencing in 2 girls with Alport syndrome in Korea	Korean J Pediatr	2019	Han KH, Park JE, ki cs.	10.3345/kjp.2018.06772

41	Author Correction: Multimodal imaging analyses in patients with genetic and sporadic forms of small vessel disease	Sci Rep	2019	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.	10.1038/s41598-019-51400-9

42	Characterization of a novel LQT3 variant with a selective efficacy of mexiletine treatment	Sci Rep	2019	Kim HJ, Kim BG, Park JE, ki cs, Huh J, Youm JB, Kang JS, Cho H.	10.1038/s41598-019-49450-0

43	Compound Heterozygous Pathogenic Variants of the 15-Hydroxyprostaglandin Dehydrogenase Gene in a Patient With Hypertrophic Osteoarthropathy: First Case in Korea	Ann Lab Med	2019	Ryu MR, Yang JH, Rhee SY, Cho A, Kim SY, ki cs.	10.3343/alm.2019.39.1.105

44	Is Cross-reactivity with Nontuberculous Mycobacteria a Systematic Problem in the Xpert MTB/RIF Assay	Tuberc Respir Dis (Seoul)	2019	Huh HJ, Song DJ, ki cs, Lee NY.	10.4046/trd.2018.0075

45	GenoType NTM-DR Performance Evaluation for Identification of Mycobacterium avium Complex and Mycobacterium abscessus and Determination of Clarithromycin and Amikacin Resistance	J Clin Microbiol	2019	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.	10.1128/JCM.00516-19

46	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	Ann Lab Med	2019	Huh HJ, Lim KR, ki cs, Huh K, Shim HJ, Song DJ, Kim YJ, Chung DR, Lee NY.	10.3343/alm.2019.39.2.176

47	Comparison between DiaPlexQ™ STI6 and GeneFinder™ STD I/STD II multiplex Real-time PCR Kits in the detection of six sexually transmitted disease pathogens	J Clin Lab Anal	2019	Huh HJ, ki cs, Yun SA, Lee J, Oh GY, Lee NS, Yoon YH, Lee NY.	10.1002/jcla.22703

48	Challenges and Considerations in Sequence Variant Interpretation for Mendelian Disorders	Ann Lab Med	2019	Kim YE, ki cs, Jang MA.	10.3343/alm.2019.39.5.421

49	Ring Finger Protein 213 Variant and Plaque Characteristics, Vascular Remodeling, and Hemodynamics in Patients With Intracranial Atherosclerotic Stroke: A High-Resolution Magnetic Resonance Imaging and Hemodynamic Study	J Am Heart Assoc	2019	Choi EH, Lee H, Chung JW, Seo WK, Kim GM, ki cs, Kim YC, Bang OY.	10.1161/JAHA.119.011996

50	Phe5notypic association of presence of a somatic GNAQ mutation with port-wine stain distribution in capillary malformation	Head Neck	2019	Lee KT, Park JE, Eom Y, Lim HS, ki cs, Lim SY.	10.1002/hed.25962

51	Highly Sensitive and Specific Molecular Test for Mutations in the Diagnosis of Thyroid Nodules: A Prospective Study of BRAF-Prevalent Population	Int J Mol Sci	2020	Cho YY, Park SY, Shin JH, Oh YL, Choe JH, Kim JH, Kim JS, Yim HS, Kim YL, ki cs, Kim TH, Chung JH, Kim SW.	10.3390/ijms21165629

52	Genetic heterogeneity and prognostic impact of recurrent ANK2 and TP53 mutations in mantle cell lymphoma: a multi-centre cohort study	Sci Rep	2020	Jeong S, Park YJ, Yun W, Lee ST, Choi JR, Suh C, Jo JC, Cha HJ, Jeong JY, Chang H, Cha YJ, Kim H, Park MJ, Song W, cho eh, Jeong EG, Lee J, Park Y, Lee YS, Kim DJ, Lee HS.	10.1038/s41598-020-70310-9

53	Exon splicing analysis of intronic variants in multigene cancer panel testing for hereditary breast/ovarian cancer	Cancer Sci	2020	Ryu JS, Lee HY, cho eh, Yoon KA, Kim MK, Joo J, Lee ES, Kang HS, Lee S, Lee DO, Lim MC, Kong SY.	10.1111/cas.14600

54	From Genetic Testing to Treatment and Prevention of BRCA-Related Breast Cancer	Ann Lab Med	2020	ki cs .	10.3343/alm.2020.40.2.99

55	The First Korean Case of De Novo Proximal 4p Deletion Syndrome in a Child With Developmental Delay	Ann Lab Med	2020	Park S, Jeon BR, Lee YK, ki cs, Jang MA.	10.3343/alm.2020.40.5.435

56	High prevalence of increased sitosterol levels in hypercholesterolemic children suggest underestimation of sitosterolemia incidence	PLoS One	2020	Lee JH, Song DY, Jun SH, Song SH, Shin CH, ki cs, Lee K, Song J.	10.1371/journal.pone.0238079

57	Distribution and clinical impact of apolipoprotein E4 in subjective memory impairment and early mild cognitive impairment	Sci Rep	2020	Cho H, Kim YE, Chae W, Kim KW, Kim JW, Kim HJ, Na DL, ki cs, Seo SW.	10.1038/s41598-020-69603-w

58	The First Korean Case of Baraitser-Winter Cerebro-Fronto-Facial Syndrome with a Novel Mutation in ACTB Diagnosed Via Targeted Gene Panel Sequencing and Literature Review	Ann Clin Lab Sci	2020	Choi GJ, Kim MS, Park H, Kim JY, Choi JM , Lee SM , Jang JH, Cho SY, Jin DK.	-

59	A Novel Heterozygous Missense Variant (c.667G>T;p.Gly223Cys) in USH1C That Interferes With Cadherin-Related 23 and Harmonin Interaction Causes Autosomal Dominant Nonsyndromic Hearing Loss	Ann Lab Med	2020	Song JS , Bahloul A, Petit C, Kim SJ, Moon IJ, Lee J, ki cs .	10.3343/alm.2020.40.3.224

60	Spontaneous Pisa syndrome in a patient with early-onset Alzheimer's disease	Neurol Sci	2020	Woo KA, Yoo D, ki cs, Lee JY.	10.1007/s10072-019-04160-3

61	PSEN1 variants in Korean patients with clinically suspicious early-onset familial Alzheimer's disease	Sci Rep	2020	Kim YE, Cho H, Kim HJ, Na DL, Seo SW, ki cs.	10.1038/s41598-020-59829-z

62	Carrier Frequency of Spinal Muscular Atrophy in a Large-scale Korean Population	Ann Lab Med	2020	Park JE, Yun SA, Roh EY, Yoon JH, Shin S, ki cs.	10.3343/alm.2020.40.4.326

63	Flow Cytometry for the Diagnosis of Primary Immunodeficiency Diseases: A Single Center Experience	Allergy Asthma Immunol Res	2020	Kwon WK, Choi S, Kim HJ, Huh HJ, Kang JM, Kim YJ, Yoo KH, Ahn K, Cho HK, Peck KR, Jang JH, ki cs, Kang ES.	10.4168/aair.2020.12.2.292

64	Determining the best candidates for next-generation sequencing-based gene panel for evaluation of early-onset epilepsy	Mol Genet Genomic Med	2020	Lee J, Lee C, ki cs, Lee J.	10.1002/mgg3.1376

65	Genotype-Related Clinical Characteristics and Myocardial Fibrosis and their Association with Prognosis in Hypertrophic Cardiomyopathy	J Clin Med	2020	Kim HY, Park JE, Lee SC, Jeon ES, On YK, Kim SM, Choe YH, ki cs, Kim JW, Kim KH.	10.3390/jcm9061671

66	Analysis of dementia-related gene variants in APOE ε4 noncarrying Korean patients with early-onset Alzheimer's disease	Neurobiol Aging	2020	Park JE, Kim HJ, Kim YE, Jang H, Cho SH, Kim SJ, Na DL, Won HH, ki cs, Seo SW.	10.1016/j.neurobiolaging.2019.05.009

67	A nonsense variant in NME5 causes human primary ciliary dyskinesia with radial spoke defects	Clin Genet	2020	cho eh , Huh HJ, Jeong I, Lee NY, Koh WJ, Park HC, ki cs .	10.1111/cge.13742

68	ANXA11 mutations in ALS cause dysregulation of calcium homeostasis and stress granule dynamics	Sci Transl Med	2020	Nahm M, Lim SM, Kim YE, Park J, Noh MY, Lee S, Roh JE, Hwang SM, Park CK, Kim YH, Lim G, Lee J, Oh KW, ki cs, Kim SH.	10.1126/scitranslmed.aax3993

69	The First Korean Family with Aarskog-Scott Syndrome Harboring a Novel Mutation in FGD1 Diagnosed via Targeted Gene Panel Sequencing	Ann Clin Lab Sci	2020	Bae GY, Kim MS, Kim JY, Jang JH, Lee SM, Cho SY, Jin DK.	-

70	Moyamoya Disease and Spectrums of RNF213 Vasculopathy	Transl Stroke Res	2020	Bang OY, Chung JW, Kim DH, Won HH, Yeon JY, ki cs, Shin HJ, Kim JS, Hong SC, Kim DK, Koizumi A.	10.1007/s12975-019-00743-6

71	The first familial case of inherited intellectual developmental disorder with dysmorphic facies and behavioral abnormalities (IDDFBA) with a novel FBXO11 variant	Am J Med Genet A	2020	Lee CG, Seol CA, ki cs.	10.1002/ajmg.a.61828

72	COVID-19 Testing in South Korea: Current Status and the Need for Faster Diagnostics	Ann Lab Med	2020	Kim YJ, Sung H, ki cs, Hur M.	10.3343/alm.2020.40.5.349

73	Genome-wide and size-based cell-free DNA indices as predictive biomarkers for locally advanced esophageal squamous cell carcinoma treated with preoperative or definitive chemoradiotherapy	Curr Probl Cancer	2021	Kim EJ, Im HS, Lee J, Cho EH, Kim YH, Kim HR, Kim JH, Park SR.	10.1016/j.currproblcancer.2020.100685

74	Genomic mutation profiling using liquid biopsy in Korean patients with prostate cancer: Circulating tumor DNA mutation predicts the development of castration resistance	Investig Clin Urol	2021	Yu J, Cho E, Choi J, Lim JE, Lee J, Kang M, Sung HH, Jeong BC, Seo SI, Jeon SS, Lee HM, Jeon HG.	10.4111/icu.20200406

75	Genomic Instability of Circulating Tumor DNA as a Prognostic Marker for Pancreatic Cancer Survival: A Prospective Cohort Study	Cancers (Basel)	2021	Woo SM, Kim MK, Park B, Cho EH, Lee TR, Ki CS, Yoon KA, Kim YH, Choi W, Kim DY, Hwang JH, Cho JH, Han SS, Lee WJ, Park SJ, Kong SY.	10.3390/cancers13215466

76	TERT Promoter Mutations and the 8th Edition TNM Classification in Predicting the Survival of Thyroid Cancer Patients	Cancers (Basel)	2021	Park J, Lee S, Kim K, Park H, ki cs, Oh YL, Shin JH, Kim JS, Kim SW, Chung JH, Kim TH.	10.3390/cancers13040648

77	Proposal of a New Prognostic Model for Differentiated Thyroid Cancer with TERT Promoter Mutations	Cancers (Basel)	2021	Park J, Lee S, Park J, Park H, ki cs, Oh YL, Shin JH, Kim JS, Kim SW, Chung JH, Kim K, Kim TH.	10.3390/cancers13122943

78	Genetic Confirmation and Identification of Novel Variants for Glanzmann Thrombasthenia and Other Inherited Platelet Function Disorders: A Study by the Korean Pediatric Hematology Oncology Group (KPHOG)	Genes (Basel)	2021	Yang EJ, Shim YJ, Kim HS, Lim YT, Im HJ, Koh KN, Kim H, Suh JK, Park ES, Lee NH, Choi YB, Hah JO, Lee JM, Han JW, Lee JH, Lee YH, Jung HL, Ha JS, ki cs,	10.3390/genes12050693

79	A Population-Based Analysis of BRCA1/2 Genes and Associated Breast and Ovarian Cancer Risk in Korean Patients: A Multicenter Cohort Study	Cancers (Basel)	2021	Park KS, Lee W, Seong MW, Kong SY, Lee KA, Ha JS, cho eh, Han SH, Park I, Kim JW.	10.3390/cancers13092192

80	Carrier frequency and incidence estimation of Smith-Lemli-Opitz syndrome in East Asian populations by Genome Aggregation Database (gnomAD) based analysis	Orphanet J Rare Dis	2021	Park JE, Lee T, Ha K, ki cs.	10.1186/s13023-021-01789-2

81	Identification of de novo EP300 and PLAU variants in a patient with Rubinstein-Taybi syndrome-related arterial vasculopathy and skeletal anomaly	Sci Rep	2021	Park JE, Kim E, Lee DW, Park TK, Kim MS, Jang SY, Ahn J, Park KB, Kim KH, Park HC, ki cs, Kim DK.	10.1038/s41598-021-95133-0

82	A Novel De Novo Heterozygous ARID1A Missense Variant Cluster in cis c.[5954C>G;6314C>T;6334C>T;6843G>C] causes a Coffin-Siris Syndrome	Ann Lab Med	2021	Lee CG, ki cs.	10.3343/alm.2021.41.3.350

83	Metaphyseal Dysplasia Without Hypotrichosis Caused by RNA Component of Mitochondrial RNA-Processing Endoribonuclease (RMRP) Gene Variants: The First Case in Korea	Ann Lab Med	2021	Namgoong H, ki cs, Hyun H, Yoo IH, Cho WK, Lee JH, Oh JH.	10.3343/alm.2021.41.3.346

84	Genetic Analysis of Korean Adult Patients with Nontuberculous Mycobacteria Suspected of Primary Ciliary Dyskinesia Using Whole Exome Sequencing	Yonsei Med J	2021	cho eh , ki cs , Yun SA, Kim SY, Jhun BW, Koh WJ, Huh HJ, Lee NY.	10.3349/ymj.2021.62.3.224

85	Genomic Analysis of Korean Patient With Microcephaly	Front Genet	2021	Lee J, Park JE, Lee C, Kim AR, Kim BJ, Park WY, ki cs, Lee J.	10.3389/fgene.2020.543528

86	Case report of juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome: first report in Korea with a novel mutation in the SMAD4 gene	Transl Pediatr	2021	Kang B, Hwang SK, Choi S, Kim ES, Lee SY, ki cs, Cho eh, Lee JH, Choe BH.	10.21037/tp-21-12

87	Genetic Analysis Using a Next Generation Sequencing-Based Gene Panel in Patients With Skeletal Dysplasia: A Single-Center Experience	Front Genet	2021	Kim SJ, Lee SM, Choi JM, Jang JH, Kim HG, Kim JT, Cho JH, Sohn YB.	10.3389/fgene.2021.670608

88	Comparison of Longitudinal Changes of Cerebral Small Vessel Disease Markers and Cognitive Function Between Subcortical Vascular Mild Cognitive Impairment With and Without NOTCH3 Variant: A 5-Year Follow-Up Study	Front Neurol	2021	Yoon CW, Kim YE, Kim HJ, ki cs, Lee H, Rha JH, Na DL, Seo SW.	10.3389/fneur.2021.586366

89	A boy with Coffin-Siris syndrome with a novel frameshift mutation in ARID1B	Neuro Endocrinol Lett	2021	Park H, Kim MS, Kim J, Jang JH, Choi JM, Lee SM, Cho SY, Jin DK.	-

90	Genetic Evaluation of Congenital Hypothyroidism with Gland in situ Using Targeted Exome Sequencing	Ann Clin Lab Sci	2021	Shin JH, Kim HY, Kim YM, Lee H, Bae MH, Park KH, Lee SM, Kwak MJ.	-

91	Prevalence of granular corneal dystrophy type 2-related TGFBI p.R124H variant in a South Korean population	Mol Vis	2021	Park JE, Yun SA, Roh EY, Yoon JH, Shin S, ki cs.	-

92	Genetic Profile and Associated Characteristics of 150 Korean Patients with Retinitis Pigmentosa	J Ophthalmol	2021	Kim YN, Kim YJ, Seol CA, Seo EJ, Lee JY, Yoon YH.	10.1155/2021/5067271

93	Development of Crohn's Disease in a Child With SLC26A3-related Congenital Chloride Diarrhea: Report of the First Case in East Asia and a Novel Missense Variant	Ann Lab Med	2021	Kim ES, Song JS, ki cs, Choe YH, Kang B.	10.3343/alm.2021.41.2.255

94	A late-onset male Fabry disease patient with somatic mosaicism of a classical GLA mutation: a case report	Ann Palliat Med	2021	Bae EH, Choi JM, ki cs, Ma SK, Yoo HW, Kim SW.	10.21037/apm-19-635

95	Prenatal diagnosis of combined methylmalonic acidemia and homocystinuria cobalamin C type using clinical exome sequencing and targeted gene analysis	Mol Genet Genomic Med	2021	Hwang N, Jang JH, cho eh, Choi R, Choi SJ, Park HD.	10.1002/mgg3.1838

96	Urinary Microbiome Characteristics in Female Patients with Acute Uncomplicated Cystitis and Recurrent Cystitis	J Clin Med	2021	Yoo JJ, Shin HB, Song JS, Kim M, Yun J, Kim Z, Lee YM, Lee SW, Lee KW, Kim WB, Ryu CB, Park SW, Park SK, Song HY, Kim YH, On The Behalf Of Sms Soonchunhyang Microbiome Multi-Disciplinary Study Group.	10.3390/jcm10051097

97	Recent Advances in the Clinical Application of Next-Generation Sequencing	Pediatr Gastroenterol Hepatol Nutr	2021	ki cs .	10.5223/pghn.2021.24.1.1

98	Response of Clinical Laboratories to the Ongoing COVID-19 Pandemic	Ann Lab Med	2021	Kim YJ, Sung H, ki cs, Hur M.	10.3343/alm.2021.41.6.519

99	Development and performance evaluation of an artificial intelligence algorithm using cell-free DNA fragment distance for non-invasive prenatal testing (aiD-NIPT)	Front Genet	2022	Lee J, Lee SM, Ahn JM, Lee TR , Kim W, Cho EH, Ki CS .	10.3389/fgene.2022.999587

100	Targeted next generation sequencing of circulating tumor DNA provides prognostic information for management in breast cancer patients	Ann Transl Med	2022	Shim H, Kwon MJ, Park IH, Kim MK, cho eh, Lee J, Lee ST, Sim SH, Lee KS, Kim YH, Kim SK, Lee ES, Kong SY.	10.21037/atm-21-4881

101	Aberrant Transcript Usage Is Associated with Homologous Recombination Deficiency and Predicts Therapeutic Response	Cancer Res	2022	Kang HG, Hwangbo H, Kim MJ, Kim S, Lee EJ, Park MJ, Kim JW, Kim BG, cho eh, Chang S, Lee JY, Choi JK.	10.1158/0008-5472.CAN-21-2023

102	Molecular classification of follicular thyroid carcinoma based on TERT promoter mutations	Mod Pathol	2022	Park H, Shin HC, Yang H, Heo J, ki cs, Kim HS, Kim JH, Hahn SY, Chung YJ, Kim SW, Chung JH, Oh YL, Kim TH.	10.1038/s41379-021-00907-6

103	Clinical and genetic characteristics of amyotrophic lateral sclerosis patients with ANXA11 variants	Brain Commun	2022	Sung W, Nahm M, Lim SM, Noh MY, Lee S, Hwang SM, Kim YH, Park J, Oh KW, ki cs, Kim YE, Kim SH.	10.1093/braincomms/fcac299

104	Whole-genome Sequencing Reveals a Novel Structural Variant of CCDC39 in a Term Neonate with Primary Ciliary Dyskinesia	Ann Lab Med	2022	Shin JH, Lee SM, Kim HH, Kim JK.	10.3343/alm.2022.42.4.500

105	Hypertriglyceridemia with acute pancreatitis in a 14-year-old girl with diabetic ketoacidosis	Ann Pediatr Endocrinol Metab	2022	Park H, Kim MS, Kim J, Lee SM, Cho SY, Yoo EG, Jin DK.	10.6065/apem.2040250.125

106	Genetic Screening in Korean Patients with Frontotemporal Dementia Syndrome	J Alzheimers Dis Rep	2022	Kim EJ, Na DL, Kim HJ, Park KW, Lee JH, Roh JH, Kwon JC, Yoon SJ, Jung NY, Jeong JH, Jang JW, Kim HJ, Park KH, Choi SH, Kim S, Park YH, Kim BC, Youn YC, ki cs, Kim SH, Seo SW, Kim YE.	10.3233/ADR-220030

107	De novo mutations in SOD1 are a cause of ALS	J Neurol Neurosurg Psychiatry	2022	Muller K, Oh KW, Nordin A, Panthi S, Kim SH, Nordin F, Freischmidt A, Ludolph AC, ki cs, Forsberg K, Weishaupt J, Kim YE, Andersen PM.	10.1136/jnnp-2021-327520

108	Wilson disease diagnosed incidentally by targeted gene panel sequencing in a Korean boy with severe obesity	Ann Pediatr Endocrinol Metab	2022	Im M, Song A, Kim J, Kim MS, Lee SM, Kim MJ, Cho SY, Jin DK.	10.6065/apem.2142042.021

109	Pharmacokinetics and Genetic Factors of Atorvastatin in Healthy Korean Subjects	Front Genet	2022	Kim S, Seo JD, Yun YM, Kim H, Kim TE, Lee T, Lee TR, Lee JH, cho eh, ki cs.	10.3389/fgene.2022.836970

110	Gardnerella vaginalis in Recurrent Urinary Tract Infection Is Associated with Dysbiosis of the Bladder Microbiome	J Clin Med	2022	Yoo JJ, Song JS, Kim WB, Yun J, Shin HB, Jang MA, Ryu CB, Kim SS, Chung JC, Kuk JC, Shin EJ, Song HY, Yu BC, Lee ES, Ryu S, Kim JH, Jung SS, Kim YH, On Behalf Of The Sms Soonchunhyang Microbiome Multi-Disciplinary Study Group.	10.3390/jcm11092295

111	Genetic Analysis of Cardiac Syncope-Related Genes in Korean Patients with Recurrent Neurally Mediated Syncope	J Cardiovasc Dev Dis	2022	Lee SH, Park JE, ki cs, Park SJ, On YK, Park KM, Kim JS.	10.3390/jcdd9080265

112	Osteoarthritis improvement effect of Chrysanthemum zawadskii var. latilobum extract in relation to genotype	Int J Vitam Nutr Res	2022	Lee T , Na CB, Kim D , Han HJ, Yun J, Park SK, Cho E .	10.1024/0300-9831/a000745

113	Carrier frequency and incidence estimation of familial hemophagocytic lymphohistiocytosis in East Asian populations by genome aggregation database (gnomAD) based analysis	Front Pediatr	2022	Park JE, Lee T, Ha K, cho eh, ki cs.	10.3389/fped.2022.975665

114	Carrier frequency and incidence estimation of RPE65-associated inherited retinal diseases in East Asian population by population database-based analysis	Orphanet J Rare Dis	2022	cho eh , Park JE, Lee T , Ha K, ki cs .	10.1186/s13023-022-02566-5

115	Plasma Circulating Cell-free DNA in Advanced Hepatocellular Carcinoma Patients Treated With Radiation Therapy	In Vivo	2023	Kim DY, Cho EH , Kim JS, Chie EK, Kang HC .	10.21873/invivo.13333

116	Liquid biopsy using cfDNA to predict radiation therapy response in solid tumors	Radiat Oncol J	2023	Cho WK, Lee J, Youn SM, Oh D, Lim DH, Yoon HG, Cho EH , Noh JM.	10.3857/roj.2022.00444

117	Shallow Whole-Genome Sequencing of Cell-Free DNA (cfDNA) Detects Epithelial Ovarian Cancer and Predicts Patient Prognosis	Cancers (Basel)	2023	Bak SE, Kim H, Ho JY, Cho EH , Lee J, Youn SM, Park SW, Han MR, Hur SY, Lee SJ, Choi YJ.	10.3390/cancers15020530

118	Copy number aberrations in ctDNA enables prognosis prediction and molecular characterization of breast cancer	J Natl Cancer Inst	2023	Kim MH, Kim GM, Ahn JM , Ryu WJ, Kim SG, Kim JH, Kim TY, Han HJ, Kim JY, Park HS, Park S, Park BW, Kim SI, Jeong J, Lee J, Paik S, Kim S, Jung KH, Cho EH , Sohn J.	10.1093/jnci/djad080

119	Chromosomal Instability in Cell-free DNA as a Prognostic Biomarker of Metastatic Hormone-sensitive Prostate Cancer Treated with Androgen Deprivation Therapy	Eur Urol Focus	2023	Lee CU, Cho E, Lee J , Lim JE, Chung JH, Song W, Kang M, Sung HH, Jeong BC, Seo SI, Jeon SS, Lee HM, Jeon HG.	10.1016/j.euf.2022.09.002

120	Integrative modeling of tumor genomes and epigenomes for enhanced cancer diagnosis by cell-free DNA	Nat Commun	2023	Bae M, Kim G, Lee TR, Ahn JM , Park H, Park SR, Song KB, Jun E, Oh D, Lee JW, Park YS, Song KW, Byeon JS, Kim BH, Sohn JH, Kim MH, Kim GM, Chie EK, Kang HC, Kong SY, Woo SM, Lee JE, Ryu JM, Lee J, Kim D, Ki CS, Cho EH, Choi JK.	10.1038/s41467-023-37768-3

121	Prevalence and Risk Factors of Germline Pathogenic Variants in Pancreatic Ductal Adenocarcinoma	Cancer Res Treat	2023	Ryu KH, Park S, Chun JW, Cho E, Choi J, Lee DE, Shim H, Kim YH, Han SS, Park SJ, Woo SM, Kong SY.	10.4143/crt.2023.291

122	ASO Visual Abstract: Selection Criteria for Completion Thyroidectomy in Follicular Thyroid Carcinoma Using Primary Tumor Size and TERT Promoter Mutational Status	Ann Surg Oncol	2023	Park H, Heo J, ki cs, Shin JH, Oh YL, Son YI, Kim JS, Kim SW, Chung JH, Kim TY, Kim TH, Kim JH.	10.1245/s10434-023-13146-7

123	Selection Criteria for Completion Thyroidectomy in Follicular Thyroid Carcinoma Using Primary Tumor Size and TERT Promoter Mutational Status	Ann Surg Oncol	2023	Park H, Heo J, ki cs, Shin JH, Oh YL, Son YI, Kim JS, Kim SW, Chung JH, Kim TY, Kim TH, Kim JH.	10.1245/s10434-022-13089-5

124	Age-associated mortality is partially mediated by TERT promoter mutation status in differentiated thyroid carcinoma	PLoS One	2023	Heo J, Lee S, Park J, Yang H, Park H, ki cs, Oh YL, Kim HI, Kim SW, Chung JH, Kim K, Kim TH.	10.1371/journal.pone.0294145

125	Clinically relevant core genes for hematologic malignancies in clinical NGS panel testing	Blood Res	2023	Song JS .	10.5045/br.2023.2023196

126	Carrier frequency and incidence of alpha-mannosidosis: population database-based study-focus on the East Asian and Korean population	Front Genet	2023	Park JE, Lee T, Ha K, cho eh, ki cs.	10.3389/fgene.2023.1297543

127	A case of Type A insulin resistance syndrome in a 14-year-old girl without common clinical features	Ann Pediatr Endocrinol Metab	2023	Lee N, Jeong J, Park H, ki cs, Kim JK.	10.6065/apem.2244106.053

128	A Korean boy with a CHD8 mutation who presented with overgrowth, intellectual disability, and autism	Ann Pediatr Endocrinol Metab	2023	Kim C, Kim MS, Noh ES, Bae GY, Jang JH, Lee SM, Cho SY, Lee J, Jin DK.	10.6065/apem.2244130.065

129	First female Korean child with Coffin-Lowry syndrome: a novel variant in RPS6KA3 diagnosed by exome sequencing and a literature review	Ann Pediatr Endocrinol Metab	2023	Song A, Im M, Kim MS, Noh ES, Kim C, Jang J, Lee SM, ki cs, Cho SY, Jin DK.	10.6065/apem.2142134.067

130	Identification of two novel COL3A1 variants in patients with vascular Ehlers-Danlos syndrome	Mol Genet Genomic Med	2023	Heo WY, Jang SY, Park TK, ki cs, Kim JW, Kim DK, Jang JH.	10.1002/mgg3.2240

131	Differential Diagnosis of Pulmonary Veno-Occlusive Disease and/or Pulmonary Capillary Hemangiomatosis after Identification of Two Novel EIF2AK4 Variants by Whole-Exome Sequencing	Mol Syndromol	2023	Park JE, Chang SA, Jang SY, Lee KS, Kim DK, ki cs.	10.1159/000527524

132	Carrier frequency and incidence of aromatic L-amino acid decarboxylase deficiency: a gnomAD-based study	Pediatr Res	2023	Park JE, Lee T, Ha K, cho eh, ki cs.	10.1038/s41390-023-02685-0

133	Role of NCKAP1 in the Defective Phagocytic Function of Microglia-Like Cells Derived from Rapidly Progressing Sporadic ALS	Mol Neurobiol	2023	Noh MY, Kwon MS, Oh KW, Nahm M, Park J, Kim YE, ki cs, Jin HK, Bae JS, Kim SH.	10.1007/s12035-023-03339-2

134	An analysis of variants in TARDBP in the Korean population with amyotrophic lateral sclerosis: comparison with previous data	Sci Rep	2023	Sung W, Kim JA, Kim YS, Park J, Oh KW, Sung JJ, ki cs, Kim YE, Kim SH.	10.1038/s41598-023-45593-3

135	Novel In-Frame Deletion CNOT3 Variant in a Family With Intellectual Developmental Disorder With Speech Delay and Dysmorphic Facies	Neurol Genet	2024	Lee CG, Kim HJ, Seol CA, ki cs.	10.1212/NXG.0000000000200116

136	Resistance to thyroid hormone and nonfunctioning pituitary microadenoma in a 13-year-old boy with THRB mutation	Ann Pediatr Endocrinol Metab	2024	Kim J, Noh ES, Kim MS, Choi JM, Lee SM, Cho SY.	10.6065/apem.2346056.028

137	Progranulin haploinsufficiency mediates cytoplasmic TDP-43 aggregation with lysosomal abnormalities in human microglia	J Neuroinflammation	2024	Sung W, Noh MY, Nahm M, Kim YS, ki cs, Kim YE, Kim HJ, Kim SH.	10.1186/s12974-024-03039-1

138	Next-generation sequencing using tissue specimen collected with a 1.1 mm-diameter cryoprobe in patients with lung cancer	Respirology	2024	Kim MH, Kim SH, Lee G, Mok J, Lee MK, Song JS, Eom JS.	10.1111/resp.14680

139	16S rRNA Next-Generation Sequencing May Not Be Useful for Examining Suspected Cases of Spontaneous Bacterial Peritonitis	Medicina (Kaunas)	2024	Yang CJ, Song JS, Yoo JJ, Park KW, Yun J, Kim SG, Kim YS.	10.3390/medicina60020289

140	Genetic evaluation using next-generation sequencing of children with short stature: a single tertiary-center experience	Ann Pediatr Endocrinol Metab	2024	Kim SJ, Joo E, Park J, Seol CA, Lee JE.	10.6065/apem.2346036.018

141	Whole-Exome Sequencing and Analysis of the T Cell Receptor β and γ Repertoires in Rheumatoid Arthritis	Diagnostics (Basel)	2024	Cho J, Kim J, Song JS, Uh Y, Lee JH, Lee HS.	10.3390/diagnostics14050529

142	KCNJ3 is a novel candidate gene for autosomal dominant pure hereditary spastic paraplegia identified using whole genome sequencing	Am J Med Genet B Neuropsychiatr Genet	2024	Lee WW, Lee CG, ki cs.	10.1002/ajmg.b.32984

143	Familial chylomicronemia syndrome: case reports of siblings with deletions of the GPIHBP1 gene	BMC Endocr Disord	2024	Kim KY, Heo YJ, Ko JM, Lee YA, Shin CH, ki cs, Lee YJ.	10.1186/s12902-024-01574-9

144	Cartilage-hair hypoplasia-anauxetic dysplasia spectrum disorders harboring RMRP mutations in two Korean children: A case report	Medicine (Baltimore)	2024	Park JH, Im M, Kim YJ, Jang JH, Lee SM, Kim MS, Cho SY.	10.1097/MD.0000000000037247

145	Deep learning model integrating cfDNA methylation and fragment size profiles for lung cancer diagnosis	Medicine (Baltimore).	2024	Kim M, Park J, Seonghee Oh , Jeong BH, Byun Y, Shin SH, Im Y, Cho JH, Cho EH.	10.1038/s41598-024-63411-2

146	Prevalence Estimation of the PALB2 Germline Variant in East Asians and Koreans through Population Database Analysis	Sci Rep	2024	Park JE, Kang MC, Lee T, Cho EH , Jang MA, Won D, Park B, Ki CS , Kong SY.	10.3390/cancers16193318

147	The clinical relevance of surgical specimens for RNA sequencing in lung cancer: a cohort study	Cancers (Basel)	2024	Eom JS, Kim SH, Kim K, Kim A, Ahn HY, Mok J, Cho JS, Lee MK, Song JS , Kim MH.	10.3389/fonc.2024.1462519

148	Carrier Frequency and Incidence of MUTYH-Associated Polyposis Based on Database Analysis in East Asians and Koreans	Front Oncol	2025	Park JE, Lee T, Cho EH, Jang MA, Won D, Park B, Ki CS , Kong SY.	10.3343/alm.2024.0242

149	PALB2 germline pathogenic variants: frequency, clinical features, and functional analysis of c.3350+5G>A variant in 3987 Korean cancer patients	Ann Lab Med	2025	Kang MC, Lee S, Kim H, Kang HS, Jung SY, Hwang JA, Kwon J, Lee KS, Lim MC, Park SY, Sim SH, Choi W, Park JE, Cho EH, Kong SY.	10.1016/j.esmoop.2024.104132

150	Integrating Plasma Cell-Free DNA Fragment End Motif and Size with Genomic Features Enables Lung Cancer Detection	ESMO Open	2025	Lee TR, Ahn JM, Lee J, Kim D, Park J, Jeong BH, Oh D, Kim SM, Jung GC, Choi BH, Kwon MJ, Wang M, Salmans M, Carson A, Leatham B, Fathe K, Lee BI, Jung B, Ki CS , Park YS, Cho EH .	10.1158/0008-5472.CAN-24-1517

151	Microbial and Immune Landscape of Malignant Ascites: Insights from Gut, Bladder, and Ascitic Fluid Analyses	Cancers (Basel)	2025	Yun J, Song JS , Yoo JJ, Kweon S, Choi YY, Lim D, Kuk JC, Kim HJ, Park SK.	10.3390/cancers17081280

152	Mutations in NEK1 cause ciliary dysfunction as a novel pathogenic mechanism in amyotrophic lateral sclerosis	Mol Neurodegener	2025	Noh MY, Oh SI, Kim YE, Cha SJ, Sung W, Oh KW, Park Y, Mun JY, Ki CS, Nahm M, Kim SH.	10.1186/s13024-025-00848-7.

153	Genetic epidemiology of epithelial-stromal TGFBI dystrophies in a large Korean population	Sci Rep	2025	EH Cho, M Lee, CS Ki, CA Seol, MA Jang	10.1038/s41598-025-08189-7.

154	Genetic epidemiology of moyamoya disease and CADASIL in over 120,000 healthy Korean individuals: Insights into cerebrovascular disorders	PLoS One	2025	EH Cho, M Lee, CS Ki, CA Seol, MA Jang	10.1371/journal.pone.0331174.