R&D

Convergence of Technology BT + IT + MI 

Qualified Manpower

Patents

Patent Number 10-2029393
Patent Number 10-2029393

Detection and use of ctDNA from the cell free DNA Sample (2019 Sep)

Patent Number 10-1816921
Patent Number 10-1816921

Diagnostic Composition for Congenital Functional Disorder (2018 Jan)

Patent Number 10-1774996
Patent Number 10-1774996

SNP marker for Hemophiliac treatment (2017 Aug)

Patent Number 10-1743211
Patent Number 10-1743211

Diagnostic composition for Congenital functional disorder (2017 May)

Patent Number 10-1686146
Patent Number 10-1686146

CNV test of sample derived from nucleic acid (2016 Dec)

Patent Number 10-1507505
Patent Number 10-1507505

Myotonic Dystrophy Type 1 (DM1) Test (2015 Mar)

 
 

Publication

Title
Author
Publish date
Journal
The First Korean Case of De Novo Proximal 4p Deletion Syndrome in a Child With Developmental Delay.
Park S, Jeon BR, Lee YK, Ki CS, Jang MA.
2020. Apr
Ann Lab Med. 2020
Identification of a novel variant in the PHEX gene using targeted gene panel sequencing in a 24-month-old boy with hypophosphatemic rickets.
Jo HY, Shin JH, Kim HY, Kim YM, Lee H, Bae MH, Park KH, Jang JH, Kwak MJ.
2020. Apr
Ann Pediatr Endocrinol Metab. 2020
Nonclassic congenital lipoid adrenal hyperplasia diagnosed at 17 months in a Korean boy with normal male genitalia: emphasis on pigmentation as a diagnostic clue.
Bae H, Kim MS, Park H, Jang JH, Choi JM, Lee SM, Cho SY, Jin DK.
2020. Apr
Ann Pediatr Endocrinol Metab. 2020
COVID-19 Testing in South Korea: Current Status and the Need for Faster Diagnostics.
Kim YJ, Sung H, Ki CS, Hur M.
2020. Apr
Ann Lab Med. 2020
A nonsense variant in NME5 causes human primary ciliary dyskinesia with radial spoke defects.
Cho EH, Huh HJ, Jeong I, Lee NY, Koh WJ, Park HC, Ki CS.
2020. Mar
Clin Genet. 2020
A female with typical fragile-X phenotype caused by maternal isodisomy of the entire X chromosome.
Kim JK, Jeong JE, Choi JM, Kim GH, Yoo HW.
2020. Mar
J Hum Genet. 2020
Carrier Frequency of Spinal Muscular Atrophy in a Large-scale Korean Population.
Park JE, Yun SA, Roh EY, Yoon JH, Shin S, Ki CS.
2020. Jul
Ann Lab Med. 2020
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.
Song JS, Bahloul A, Petit C, Kim SJ, Moon IJ, Lee J, Ki CS.
2020. May
Ann Lab Med. 2020
From Genetic Testing to Treatment and Prevention of BRCA-Related Breast Cancer.
Ki CS.
2020. Mar
Ann Lab Med. 2020
PSEN1 variants in Korean patients with clinically suspicious early-onset familial Alzheimer's disease.
Kim YE, Cho H, Kim HJ, Na DL, Seo SW, Ki CS.
2020. Feb
Sci Rep. 2020
Flow Cytometry for the Diagnosis of Primary Immunodeficiency Diseases: A Single Center Experience.
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.
2020. Feb
Allergy Asthma Immunol Res. 2020
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.
2020. Jan
Neurobiol Aging. 2020
First identified Korean family with Tatton-Brown-Rahman Syndrome caused by the novel DNMT3A variant c.118G>C p.(Glu40Gln).
Lee CG, Jang JH, Seo JY.
2019. Dec
Ann Pediatr Endocrinol Metab. 2019
Phenotypic association of presence of a somatic GNAQ mutation with port-wine stain distribution in capillary malformation.
Lee KT, Park JE, Eom Y, Lim HS, Ki CS, Lim SY.
2019. Dec
Head Neck. 2019
Characterization of a novel LQT3 variant with a selective efficacy of mexiletine treatment.
Kim HJ, Kim BG, Park JE, Ki CS, Huh J, Youm JB, Kang JS, Cho H.
2019. Sep
Sci Rep. 2019
Clinically significant maternal X chromosomal copy number variation detected by noninvasive prenatal test.
Kim SC, Cha DH, Jeong HR, Lee J, Jang JH, Cho EH.
2019. Sep
J Obstet Gynaecol Res. 2019
Methylmalonic Acid and Homocysteine as Indicators of Vitamin B12 Deficiency in Patients with Gastric Cancer after Gastrectomy.
Lee SM, Oh J, Chun MR, Lee SY.
2019. Feb
Nutrients. 2019
Spontaneous Pisa syndrome in a patient with early-onset Alzheimer's disease.
Woo KA, Yoo D, Ki CS, Lee JY.
2019. Dec
Neurol Sci. 2019
Two Novel Mutations (c.883-4_890del and c.1684C>G) of WDR62 Gene Associated With Autosomal Recessive Primary Microcephaly: A Case Report.
Yi YG, Lee DW, Kim J, Jang JH, Lee SM, Jang DH.
2019. Nov
Front Pediatr. 2019
Different parental origins of supernumerary X chromosomes in brothers with Klinefelter syndrome: A case report.
Kim SH, Park MJ, Cho EH, Kim S, Yoo SJ.
2019. Nov
Medicine (Baltimore). 2019
Hereditary Sensory and Autonomic Neuropathy 2B Caused by a Novel RETREG1 Mutation (c.765dupT) and Paternal Uniparental Isodisomy of Chromosome 5.
Park GY, Jang DH, Lee DW, Jang JH, Joo J.
2019. Oct
Front Genet. 2019
Moyamoya Disease and Spectrums of RNF213 Vasculopathy.
Bang OY, Chung JW, Kim DH, Won HH, Yeon JY, Ki CS, Shin HJ, Kim JS, Hong SC, Kim DK, Koizumi A.
2019. Oct
Transl Stroke Res. 2019
Author Correction: 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, et al.
2019. Oct
Sci Rep. 2019
Usefulness of comprehensive targeted multigene panel sequencing for neuromuscular disorders in Korean patients.
Park J, Oh HM, Park HJ, Cho AR, Lee DW, Jang JH, Jang DH.
2019. Oct
Mol Genet Genomic Med. 2019
Challenges and Considerations in Sequence Variant Interpretation for Mendelian Disorders.
Kim YE, Ki CS, Jang MA.
2019. Sep
Ann Lab Med. 2019
Congenital hypothyroidism due to thyroglobulin deficiency: a case report with a novel mutation in TG gene.
Heo S, Jang JH, Yu J.
2019. Sep
Ann Pediatr Endocrinol Metab. 2019
Targeted Gene Panel Sequencing for Molecular Diagnosis of Kallmann Syndrome and Normosmic Idiopathic Hypogonadotropic Hypogonadism.
Kim JH, Seo GH, Kim GH, Huh J, Hwang IT, Jang JH, Yoo HW, Choi JH.
2019. Sep
Exp Clin Endocrinol Diabetes. 2019
Two novel mutations in TTN of a patient with congenital myopathy: A case report.
Jang JY, Park Y, Jang DH, Jang JH, Ryu JS.
2019. Aug
Mol Genet Genomic Med. 2019
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.
2019. Jul
J Clin Microbiol. 2019
Genomic analysis of Korean patients with advanced prostate cancer by use of a comprehensive next-generation sequencing panel and low-coverage, whole-genome sequencing.
Kang M, Cho E, Jang J, Lee J, Jeon Y, Jeong BC, Seo SI, Jeon SS, Lee HM, Choi HY, Jeon HG.
2019. Jul
Investig Clin Urol. 2019
A novel de novo mutation in MYH7 gene in a patient with early onset muscular weakness and severe kyphoscoliosis: A case report.
Ko JY, Lee M, Jang JH, Jang DH, Ryu JS.
2019. Jul
Medicine (Baltimore). 2019
A case of vitamin D hydroxylation-deficient rickets type 1A caused by 2 novel pathogenic variants in CYP27B1 gene.
Kim YM, Jang YY, Jeong JE, Park HJ, Jang JH, Kim JK.
2019. Jun
Ann Pediatr Endocrinol Metab. 2019
Identification of a novel mutation in EXT2 in a fourth-generation Korean family with multiple osteochondromas and overview of mutation spectrum.
Yang A, Kim J, Jang JH, Lee C, Lee JE, Cho SY, Jin DK.
2019. May
Ann Hum Genet. 2019
De novo mutations in COL4A5 identified by whole exome sequencing in 2 girls with Alport syndrome in Korea.
Han KH, Park JE, Ki CS.
2019. May
Korean J Pediatr. 2019
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.
2019. May
Mol Genet Genomic Med. 2019
Correlation Between Vanishing White Matter Disease and Novel Heterozygous EIF2B3 Variants Using Next-Generation Sequencing: A Case Report.
Hyun SE, Choi BS, Jang JH, Jeon I, Jang DH, Ryu JS.
2019. Apr
Ann Rehabil Med. 2019
Genome-wide copy number alteration and VEGFA amplification of circulating cell-free DNA as a biomarker in advanced hepatocellular carcinoma patients treated with Sorafenib.
Oh CR, Kong SY, Im HS, Kim HJ, Kim MK, Yoon KA, Cho EH, Jang JH, Lee J, Kang J, Park SR, Ryoo BY.
2019. Apr
BMC Cancer. 2019
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.
2019. Mar
Ann Lab Med. 2019
T-Cell Receptor Rearrangements Determined Using Fragment Analysis in Patients With T-Acute Lymphoblastic Leukemia.
Kim H, Kim IS, Chang CL, Kong SY, Lim YT, Kong SG, Cho EH, Lee EY, Shin HJ, Park HJ, Eom HS, Lee H.
2019. Mar
Ann Lab Med. 2019
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.
2019. Mar
J Clin Lab Anal. 2019
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.
2019. Mar
Neurobiol Aging. 2019
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, et al.
2019. Jan
Sci Rep. 2019
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.
2019. Jan
Ann Lab Med. 2019
Is Cross-reactivity with Nontuberculous Mycobacteria a Systematic Problem in the Xpert MTB/RIF Assay?
Huh HJ, Song DJ, Ki CS, Lee NY.
2019. Jan
Tuberc Respir Dis (Seoul). 2019
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.
Choi EH, Lee H, Chung JW, Seo WK, Kim GM, Ki CS, Kim YC, Bang OY.
2019 Oct
J Am Heart Assoc. 2019
Regulation of porcine endogenous retrovirus by dual LTR1+2 (Long Terminal Region) miRNA in primary porcine kidney cells.
Chung HC, Nguyen VG, Moon HJ, Park YH, Park BK.
2019. Sep
J Vet Sci. 2019
An ANKRD11 exonic deletion accompanied by a congenital megacolon in an infant with KBG syndrome.
Seo GH, Oh A, Kang M, Kim EN, Jang JH, Kim DY, Kim KM, Yoo HW, Lee BH.
2019. Jun
J Genet Med. 2019
A Case of Urinary Tract Infection Caused by the Emerging Uropathogen Actinotignum schaalii.
Kwon WK, Song DJ, Huh HJ, Park SH, Ki CS, Lee NY.
2019. Apr
Lab Med Online. 2019
Smith-Kingsmore syndrome: The first report of a Korean patient with the MTOR germline mutation c.5395G>A p.(Glu1799Lys)
Lee D, Jang JH, Lee CG.
2019. Jun
J Genet Med. 2019
Identification of Compound Heterozygous EYS Variants in a Korean Patient with Retinitis Pigmentosa.
Kim HT, Jang JH, Kang K, Ki CS, Chung H
2018. Apr
Lab Med Online. 2018
Status of BRCA1/2 Genetic Testing Practices in Korea (2014)
Lee K, Jang JH, Lee ST, Yoon KA, Lee ES, Kim JW, Kong SY.
2018. Jul
Lab Med Online. 2018
Identification of Compound Heterozygous EYS Variants in a Korean Patient with Retinitis Pigmentosa.
Kim HT, Jang JH, Kang K, Ki CS, Chung H.
2018. Apr
Lab Med Online. 2018
Diagnostic challenge for the rare lysosomal storage disease: Late infantile GM1 gangliosidosis.
Lee JS, Choi JM, Lee M, Kim SY, Lee S, Lim BC, Cheon JE, Kim IO, Kim KJ, Choi M, Seong MW, Chae JH.
2018 May
Brain Dev. 2018
Targeted Next-Generation Sequencing of Korean Patients With Developmental Delay and/or Intellectual Disability.
Han JY, Jang JH, Park J, Lee IG.
2018. Dec
Front Pediatr. 2018
A novel de novo mosaic mutation in PHEX in a Korean patient with hypophosphatemic rickets.
Yang M, Kim J, Yang A, Jang J, Jeon TY, Cho SY, Jin DK.
2018. Dec
Ann Pediatr Endocrinol Metab. 2018
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.
2018. Dec
Exp Neurobiol. 2018
The first Korean case with Floating-Harbor syndrome with a novel SRCAP mutation diagnosed by targeted exome sequencing.
Choi EM, Lee DH, Kang SJ, Shim YJ, Kim HS, Kim JS, Jeong JI, Ha JS, Jang JH.
2018. Dec
Korean J Pediatr. 2018
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.
2018. Dec
Neurobiol Aging. 2018
Oculodentodigital Dysplasia with a Novel Mutation in GJA1 Diagnosed by Targeted Gene Panel Sequencing: A Case Report and Literature Review.
Choi J, Yang A, Song A, Lim M, Kim J, Jang JH, Park KT, Cho S, Jin DK.
2018. Nov
Ann Clin Lab Sci. 2018
A case of inherited type 1 and type 2A von Willebrand disease confirmed by diagnostic exome sequencing.
Shim YJ, Park SY, Jung N, Kim HS, Ha JS, Jang JH.
2018. Oct
Pediatr Blood Cancer. 2018
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.
2018. Oct
Yonsei Med J. 2018
First Molecular Diagnosis of a Patient with Unverricht-Lundborg Disease in Korea.
Kim KH, Song JS, Park CW, Ki CS, Heo K.
2018. Aug
Yonsei Med J. 2018
First Korean Case of Renpenning Syndrome with Novel Mutation in PQBP1 Diagnosed by Targeted Exome Sequencing, and Literature Review.
Jeong HI, Yang A, Kim J, Jang JH, Cho SY, Jin DK.
2018. Jul
Ann Clin Lab Sci. 2018
A novel missense mutation in the ACTG1 gene in a family with congenital autosomal dominant deafness: A case report.
Lee CG, Jang J, Jin HS.
2018. Jun
Mol Med Rep. 2018
Phenotypic Analysis of Korean Patients with Abnormal Chromosomal Microarray in Patients with Unexplained Developmental Delay/Intellectual Disability.
Kim HJ, Park CI, Lim JW, Lee GM, Cho E, Kim HJ.
2018. May
Yonsei Med J. 2018
Characteristic dysmorphic features in congenital disorders of glycosylation type IIb.
Kim YM, Seo GH, Jung E, Jang JH, Kim SZ, Lee BH.
2018. Mar
J Hum Genet. 2018
Application of Multigene Panel Sequencing in Patients with Prolonged Rate-corrected QT Interval and No Pathogenic Variants Detected in KCNQ1, KCNH2, and SCN5A.
Seo SH, Kim SY, Cho SI, Park H, Lee S, Choi JM, Kim MJ, Lee JS, Ahn KJ, Song MK, Bae EJ, Park SS, Seong MW.
2018. Jan
Ann Lab Med. 2018
High diagnostic yield of clinically unidentifiable syndromic growth disorders by targeted exome sequencing.
Kim YM, Lee YJ, Park JH, Lee HD, Cheon CK, Kim SY, Hwang JY, Jang JH, Yoo HW.
2017. Dec
Clin Genet. 2017
An atypical case of Noonan syndrome with KRAS mutation diagnosed by targeted exome sequencing.
Kim J, Cho SY, Yang A, Jang JH, Choi Y, Lee JE, Jin DK.
2017. Sep
Ann Pediatr Endocrinol Metab. 2017
Carrier frequency of Wilson's disease in the Korean population: a DNA-based approach.
Jang JH, Lee T, Bang S, Kim YE, Cho EH.
2017. Sep
J Hum Genet. 2017
Further delineation of COG8-CDG: A case with novel compound heterozygous mutations diagnosed by targeted exome sequencing.
Yang A, Cho SY, Jang JH, Kim J, Kim SZ, Lee BH, Yoo HW, Jin DK.
2017. Aug
Clin Chim Acta. 2017
Evaluation of a Real-Time Reverse Transcription-PCR (RT-PCR) Assay for Detection of Middle East Respiratory Syndrome Coronavirus (MERS-CoV) in Clinical Samples from an Outbreak in South Korea in 2015.
Lee JS, Ahn JS, Yu BS, Cho SI, Kim MJ, Choi JM, Seo SH, Park SS, Seong MW.
2017. Aug
J Clin Microbiol. 2017
Findings of a 1303 Korean whole-exome sequencing study.
Kwak SH, Chae J, Choi S, Kim MJ, Choi M, Chae JH, Cho EH, Hwang TJ, Jang SS, Kim JI, Park KS, Bang YJ.
2017. Jul
Exp Mol Med. 2017
Novel Mutation (c.8725T>C) in Two Siblings With Late-Onset LAMA2-Related Muscular Dystrophy.
Kim MW, Jang DH, Kang J, Lee S, Joo SY, Jang JH, Cho EH, Choi YC, Lee JH.
2017. Jul
Ann Lab Med. 2017
Effectiveness of levetiracetam in an acetazolamide-unresponsive patient with episodic ataxia type 2 by a novel CACNA1A nonsense mutation.
Lee H, Jang DH, Jang JH, Kim T.
2017. Jul
Eur J Neurol. 2017
Identification of pathogenic variants in genes related to channelopathy and cardiomyopathy in Korean sudden cardiac arrest survivors.
Song JS, Kang JS, Kim YE, Park SJ, Park KM, Huh J, Kim JS, Cho H, Ki CS, On YK.
2017. Jun
J Hum Genet. 2017
Characteristics of BRCA1/2 mutations carriers including large genomic rearrangements in high risk breast cancer patients.
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.
2017. May
Breast Cancer Res Treat. 2017
Rare presentation of Rothmund-Thomson syndrome with predominantly cutaneous findings.
Yang JY, Sohn YB, Lee JS, Jang JH, Lee ES.
2017. Apr
JAAD Case Rep. 2017
Case Report of Menopausal Woman Diagnosed with Endometrial Cancer after Colon Cancer with Germline Mutation in MSH6 in Korea.
Lee HJ, Lee MH, Choi MC, Jung SG, Joo WD, Kim TH, Lee C, Jang JH.
2017. Apr
J Menopausal Med. 2017
Diagnostic yield of targeted gene panel sequencing to identify the genetic etiology of disorders of sex development.
Kim JH, Kang E, Heo SH, Kim GH, Jang JH, Cho EH, Lee BH, Yoo HW, Choi JH.
2017. Mar
Mol Cell Endocrinol. 2017
Prognostic Implications of Monosomies in Patients With Multiple Myeloma.
Shin SY, Eom HS, Sohn JY, Lee H, Park B, Joo J, Jang JH, Lee MN, Kim JK, Kong SY.
2017. Mar
Clin Lymphoma Myeloma Leuk. 2017
Genetic and functional analysis of TBK1 variants in Korean patients with sporadic amyotrophic lateral sclerosis.
Kim YE, Oh KW, Noh MY, Nahm M, Park J, Lim SM, Jang JH, Cho EH, Ki CS, Lee S, Kim SH.
2017. Feb
Neurobiol Aging. 2017
Duplex nested reverse transcriptase polymerase chain reaction for simultaneous detection of type 2 porcine reproductive and respiratory syndrome virus and porcine circovirus type 2 from tissue samples.
Kim HK, Lyoo KS, Huynh TM, Moon HJ, Nguyen VG, Park BK.
2017. Jun
J Vet Sci. 2017
A case of maternal uniparental disomy of chromosome 20 detected by noninvasive prenatal test of 1,000 high-risk pregnancies.
Cha DH, Lee J, Jeon YJ, Jung YW, Jang JH, Lee T, Cho EH.
2017. Jun
J Genet Med. 2017
Using Array-Based Comparative Genomic Hybridization to Diagnose Pallister-Killian Syndrome.
Lee MN, Lee J, Yu HJ, Lee J, Kim SH.
2017. Jan
Ann Lab Med. 2017
A Neonate with a PIGA c.1234C>T Mutation as a Novel Cause of Neonatal Early Infantile Epileptic Encephalopathy.
Hwang JK, Cha TH, Jang JH, Park HK, Kim CR, Seol IJ, Lee HJ.
2016. Dec
Perinatology. 2016
A Population-Based Genomic Study of Inherited Metabolic Diseases Detected Through Newborn Screening.
Park KJ, Park S, Lee E, Park JH, Park JH, Park HD, Lee SY, Kim JW.
2016. Nov
Ann Lab Med. 2016
Two Concurrent Chromosomal Aberrations Involving Three-way t(3;21;8)(p21;q22;q22) and Two-way t(2;11)(q31;p15) Translocations in a Case of de novo Acute Myeloid Leukemia.
Park GC, Cho EH, Kang SH, Jang SJ, Moon DS, Park G.
2016. Oct
Lab Med Online. 2016
Identification of a Novel Nonsense Mutation in the ARSE Gene of a Patient with X-Linked Recessive Chondrodysplasia Punctata.
Doo JW, Jang JH, Cho EH, Kim JK, Cho SC.
2016. Aug
Neonatal Med. 2016
Delayed Diagnosis of Atypical Mowat-Wilson Syndrome.
Jang MA, Jung YJ, Jin DK, Lee J, Cho EH, Jang JH, Ki CS.
2016. Apr
Lab Med Online. 2016
Patient fibroblasts-derived induced neurons demonstrate autonomous neuronal defects in adult-onset Krabbe disease.
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.
2016. Nov
Oncotarget. 2016
Familial aplasia cutis congenita associated with mega-cisterna magna.
Lee EH, Park TS, Choi YS, Cho EH.
2016. Oct
Pediatr Int. 2016
A novel nonsense mutation of GPR143 gene in a Korean kindred with X-linked congenital nystagmus.
Kim US, Cho E, Kim HJ.
2016. Sep
Int J Ophthalmol. 2016
Mutation profiling of 19 candidate genes in acute myeloid leukemia suggests significance of DNMT3A mutations.
Shin SY, Lee ST, Kim HJ, Cho EH, Kim JW, Park S, Jung CW, Kim SH.
2016. Aug
Oncotarget. 2016
Temple syndrome: A patient with maternal hetero-UPD14, mixed iso- and hetero-disomy detected by SNP microarray typing of patient-father duos.
Shin EH, Cho E, Lee CG.
2016. Aug
Brain Dev. 2016
Identification and characterization of NF1 splicing mutations in Korean patients with neurofibromatosis type 1.
Jang MA, Kim YE, Kim SK, Lee MK, Kim JW, Ki CS.
2016. Aug
J Hum Genet. 2016
Association of miR-146a, miR-149, miR-196a2, and miR-499 Polymorphisms with Ossification of the Posterior Longitudinal Ligament of the Cervical Spine.
Lim JJ, Shin DA, Jeon YJ, Kumar H, Sohn S, Min HS, Lee JB, Kuh SU, Kim KN, Kim JO, Kim OJ, Ropper AE, Kim NK, Han IB.
2016. Jul
PLoS One. 2016
CLEC4C p.K210del variant causes impaired cell surface transport in plasmacytoid dendritic cells of amyotrophic lateral sclerosis.
Lim SM, Kim YE, Choi WJ, Oh KW, Noh MY, Kwon MS, Nahm M, Kim N, Ki CS, Kim SH.
2016. May
Oncotarget. 2016
Maternally inherited autosomal dominant intellectual disability caused by 16p13.3 microduplication.
Lee CG, Cho E, Ahn YM.
2016. Apr
Eur J Med Genet. 2016
Identification of the KCNJ2 Mutation in a Korean Family with Andersen-Tawil Syndrome and Developmental Delay.
Kim NR, Jang JH, Jeon GW, Cho EH, Sin JB.
2016. Winter
Ann Clin Lab Sci. 2016
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