Jong-Won Kim

C. Ki, Jong-Won Kim, Myoung-Keun Lee, 2016, Journal of clinical virology : the official publication of the Pan American Society for Clinical Virology.

Cardiac Dysrhythmias, Cardiomyopathy and Muscular Dystrophy in Patients with Emery-Dreifuss Muscular Dystrophy and Limb-Girdle Muscular Dystrophy Type 1B

Y. Suh, C. Ki, Jong-Won Kim, 2005, Journal of Korean medical science.

A Case Report of a Patient Carrying CYP2C9*3/4 Genotype with Extremely Low Warfarin Dose Requirement

Jong-Won Kim, Soo-Youn Lee, June Soo Kim, 2007, Journal of Korean medical science.

Presymptomatic Identification of CDH1 Germline Mutation in a Healthy Korean Individual with Family History of Gastric Cancer

C. Ki, H. Choi, S. Suh, 2014, Annals of laboratory medicine.

Local Laboratory Testing of Germline BRCA Mutations vs. Myriad: A Single-Institution Experience in Korea

J. Ahn, Yeon-Hee Park, Y. Im, 2021, Diagnostics.

Analytical Validation of a Pan-Cancer Panel for Cell-Free Assay for the Detection of EGFR Mutations

Jong-Won Kim, Ja-Hyun Jang, M. So, 2021, Diagnostics.

Evaluation of the Anyplex BRAF V600E Real-Time Detection Assay Using Dual-Priming Oligonucleotide Technology in Fine-Needle Aspirates of Thyroid Nodules

Kyung Sun Park, C. Ki, Jong-Won Kim, 2015, Annals of laboratory medicine.

Identification of a Rare 3 bp BRAF Gene Deletion in a Thyroid Nodule by Mutant Enrichment with 3'-Modified Oligonucleotides Polymerase Chain Reaction

C. Ki, Jong-Won Kim, Mi-Ae Jang, 2012, Annals of laboratory medicine.

SORL1 Is Genetically Associated with Late-Onset Alzheimer’s Disease in Japanese, Koreans and Caucasians

J. Haines, M. Pericak-Vance, G. Schellenberg, 2013, PloS one.

Distinct frequencies and mutation spectrums of genetic thrombophilia in Korea in comparison with other Asian countries both in patients with thromboembolism and in the general population

Hee-Jin Kim, C. Ki, Sun-Hee Kim, 2014, Haematologica.

High frequency of JAK2 exon 12 mutations in Korean patients with polycythaemia vera: novel mutations and clinical significance

Hee-Jin Kim, Sun-Hee Kim, Jong-Won Kim, 2016, Journal of Clinical Pathology.

Report of a Korean Patient with Cystic Fibrosis, Carrying Q98R and Q220X Mutations in the CFTR Gene

C. Ki, Jong-Won Kim, Jeong-Ho Kim, 2006, Journal of Korean medical science.

The role of pleural fluid MAGE RT‐nested PCR in the diagnosis of malignant pleural effusion

C. Ki, Y. Shim, Hojoong Kim, 2012, Thoracic cancer.

BRAFV600E mutation in fine‐needle aspiration aspirates: Association with poorer prognostic factors in larger papillary thyroid carcinomas

Jong-Won Kim, J. Chung, S. Kim, 2013, Head & neck.

Clinical implication of highly sensitive detection of the BRAF V600E mutation in fine-needle aspirations of thyroid nodules: a comparative analysis of three molecular assays in 4585 consecutive cases in a BRAF V600E mutation-prevalent area.

C. Ki, Jong-Won Kim, J. Shin, 2012, The Journal of clinical endocrinology and metabolism.

BRAF Mutation Analysis in Fine-Needle Aspiration Cytology Specimens for Evaluation of Thyroid Nodule: A Large Series in a BRAF-Prevalent Population

C. Ki, Jong-Won Kim, J. Shin, 2010 .

BRAFV600E mutation analysis in fine-needle aspiration cytology specimens for evaluation of thyroid nodule: a large series in a BRAFV600E-prevalent population.

C. Ki, Jong-Won Kim, Yoon-La Choi, 2010, The Journal of clinical endocrinology and metabolism.

A Population-Based Analysis of BRCA1/2 Genes and Associated Breast and Ovarian Cancer Risk in Korean Patients: A Multicenter Cohort Study

J. Ha, Inho Park, Jong-Won Kim, 2021, Cancers.

NOTCH3 variants in patients with subcortical vascular cognitive impairment: a comparison with typical CADASIL patients

D. Na, C. Ki, S. Seo, 2015, Neurobiology of Aging.

Comparison of Two Real-Time PCR Assays for Apolipoprotein E Genotyping

C. Ki, Jong-Won Kim, Myoung-Keun Lee, 2014 .

Novel Pathogenic Variant (c.580C>T) in the CPS1 Gene in a Newborn With Carbamoyl Phosphate Synthetase 1 Deficiency Identified by Whole Exome Sequencing

C. Ki, Jong-Won Kim, Soo-Youn Lee, 2016, Annals of laboratory medicine.

Mutations in DDX58, which encodes RIG-I, cause atypical Singleton-Merten syndrome.

Cheol‐Hee Kim, Jinhyuk Lee, C. Ki, 2015, American journal of human genetics.

Evaluation of the Real-Q BRAF V600E Detection Assay in Fine-Needle Aspiration Samples of Thyroid Nodules.

C. Ki, Jong-Won Kim, Y. Oh, 2015, The Journal of molecular diagnostics : JMD.

Discovery of BRCA1/BRCA2 founder variants by haplotype analysis.

J. Lee, Yeon-Hee Park, Jong-Won Kim, 2022, Cancer genetics.

Prevalence and oncologic outcomes of BRCA 1/2 mutations in unselected triple-negative breast cancer patients in Korea

Hee Jun Choi, J. Lee, Sung-Won Kim, 2018, Breast Cancer Research and Treatment.

Menopausal hormone therapy and mild cognitive impairment: a randomized, placebo-controlled trial

D. Na, S. Seo, J. Chin, 2018, Menopause.

Analysis of copy number variation using whole genome exon-focused array CGH in Korean patients with primary congenital glaucoma

Hee-Jin Kim, C. Ki, J. Lee, 2011, Molecular vision.

Diagnostic Classification and Genomic Analyses of Cancer

Jong-Won Kim, 2021, Laboratory Medicine Online.

HMGCLL1 is a predictive biomarker for deep molecular response to imatinib therapy in chronic myeloid leukemia

Hee-Jin Kim, Sun-Hee Kim, H. Won, 2018, Leukemia.

Importance of Specimen Type and Quality in Diagnosing Middle East Respiratory Syndrome

C. Ki, Jong-Won Kim, Young-Eun Kim, 2016, Annals of laboratory medicine.

CDH1 mutations in gastric cancers are not associated with family history.

Jong-Won Kim, Kyoung-Mee Kim, Jeeyun Lee, 2020, Pathology, Research and Practice.

CDH1 mutations in gastric cancers are not influenced by family history

Jong-Won Kim, Kyoung-Mee Kim, Jeeyun Lee, 2020 .

Association of ATP7B mutation detection rate with biochemical characteristics in Korean patients with Wilson disease.

C. Ki, Jong-Won Kim, Soo-Youn Lee, 2010, Annals of clinical and laboratory science.

Estimation of carrier frequencies of six autosomal-recessive Mendelian disorders in the Korean population

C. Ki, Jong-Won Kim, Mi-Kyung Lee, 2011, Journal of Human Genetics.

Molecular screening of the TSH receptor (TSHR) and thyroid peroxidase (TPO) genes in Korean patients with nonsyndromic congenital hypothyroidism

Dong Hwan Lee, C. Ki, Jong-Won Kim, 2011, Clinical endocrinology.

Perspectives on Next-Generation Newborn Screening

Kyoung-Jin Park, Jong-Won Kim, 2015 .

A Novel DHCR7 Mutation in a Smith-Lemli-Opitz Syndrome Infant Presenting with Neonatal Cholestasis

C. Ki, Jong-Won Kim, G. Kang, 2009, Journal of Korean medical science.

A Novel Mutation (c.200T>C) in the NAGLU Gene of a Korean Patient with Mucopolysaccharidosis IIIB

C. Ki, Jong-Won Kim, Mi-Ae Jang, 2013, Annals of laboratory medicine.

Complete sequence-based screening of TPMT variants in the Korean population.

H. Koo, K. Yoo, M. J. Kim, 2015, Pharmacogenetics and genomics.

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

Dong Hwan Lee, C. Ki, Jong-Won Kim, 2017, Journal of pediatric endocrinology & metabolism : JPEM.

Novel and recurrent mutations of the LDL receptor gene in Korean patients with familial hypercholesterolemia.

Jong-Won Kim, Ji-Hyun Kim, Jeong-Ho Kim, 2004, Molecules and cells.

Identification of lamin A/C (LMNA) gene mutations in Korean patients with autosomal dominant Emery-Dreifuss muscular dystrophy and limb-girdle muscular dystrophy 1B

C. Ki, Jong-Won Kim, D. Kim, 2002, Journal of Human Genetics.

Discovery of BRCA1/BRCA2 founder variants by haplotype analysis.

Jeong Eon Lee, J. Lee, Yeon-Hee Park, 2021, Cancer genetics.

Clinical and genetic analysis of a Korean family with hereditary spastic paraplegia type 3.

C. Ki, Jong-Won Kim, M. Kwon, 2010, Annals of clinical and laboratory science.

X-linked Agammaglobulinemia Associated with Bronchiectasis : A Case Report

C. Ki, Hojoong Kim, O. Kwon, 2003 .

Comparison of the AdvanSure™ real-time RT-PCR and Seeplex® RV12 ACE assay for the detection of respiratory viruses

C. Ki, Jong-Won Kim, N. Lee, 2015, Journal of Virological Methods.

Clinical and genetic analysis of Korean patients with congenital insensitivity to pain with anhidrosis

Munhyang Lee, C. Ki, Jong-Won Kim, 2009, Muscle & nerve.

A novel point mutation in PMP22 gene associated with a familial case of Charcot-Marie-Tooth disease type 1A with sensorineural deafness

C. Ki, Jong-Won Kim, K. Huh, 2004, Neuromuscular Disorders.

A novel type of +2‐base pair frameshift CALR mutation in a patient with myeloproliferative neoplasm

Hee-Jin Kim, Sun-Hee Kim, Jong-Won Kim, 2018, European journal of haematology.

SLC22A5 mutations in a patient with systemic primary carnitine deficiency: the first Korean case confirmed by biochemical and molecular investigation.

Dong Hwan Lee, C. Ki, Jong-Won Kim, 2012, Annals of clinical and laboratory science.

Evaluation of the iNtRON VRE vanA/vanB Real-Time PCR Assay for Detection of Vancomycin-Resistant Enterococci

C. Ki, Jong-Won Kim, Mi-Ae Jang, 2014, Annals of laboratory medicine.

Genetic Counseling and Long-Term Surveillance Using a Multidisciplinary Approach in von Hippel–Lindau Disease

Jong-Won Kim, B. Jeong, J. H. Kim, 2022, Annals of laboratory medicine.

Novel 4-bp Intronic Deletion (c.1560+3_1560+6del) in LEMD3 in a Korean Patient With Osteopoikilosis

C. Ki, Jong-Won Kim, J. Song, 2017, Annals of laboratory medicine.

Novel SLC37A4 Mutations in Korean Patients With Glycogen Storage Disease Ib

Dong Hwan Lee, C. Ki, Jong-Won Kim, 2017, Annals of laboratory medicine.

Novel Mutations in CEBPA in Korean Patients with Acute Myeloid Leukemia with a Normal Karyotype

Hee-Jin Kim, C. Ki, Sun-Hee Kim, 2012, Annals of laboratory medicine.

Alpha-1 antichymotrypsin and alpha-2 macroglobulin gene polymorphisms are not associated with Korean late-onset Alzheimer's disease

D. Na, C. Ki, Jong-Won Kim, 2001, Neuroscience Letters.

Statins Enhance the Molecular Response in Chronic Myeloid Leukemia when Combined with Tyrosine Kinase Inhibitors

M. Minden, Hee-Jin Kim, Sun-Hee Kim, 2021, Cancers.

Sequential array comparative genomic hybridization analysis identifies copy number changes during blastic transformation of chronic myeloid leukemia.

Hee-Jin Kim, C. Ki, Sun-Hee Kim, 2012, Leukemia research.

Diagnostic Utility of a Multiplex RT-PCR Assay in Detecting Fusion Transcripts From Recurrent Genetic Abnormalities of Acute Leukemia by WHO 2008 Classification

Hee-Jin Kim, C. Ki, Sun-Hee Kim, 2012, Diagnostic molecular pathology : the American journal of surgical pathology, part B.

A novel mutation (C67Y)in the NOTCH3 gene in a Korean CADASIL patient.

Y. Suh, D. Na, C. Ki, 2003, Journal of Korean medical science.

JAK2 V617F and MPL W515L/K mutations in Korean patients with essential thrombocythemia.

Hee-Jin Kim, C. Ki, Sun-Hee Kim, 2010, The Korean journal of laboratory medicine.

Performance Evaluation of Allplex Respiratory Panels 1, 2, and 3 for Detection of Respiratory Viruses and Influenza A Virus Subtypes

Sun Ae Yun, C. Ki, Jong-Won Kim, 2016, Journal of Clinical Microbiology.

A novel COL3A1 gene mutation in patient with aortic dissected aneurysm and cervical artery dissections

C. Ki, Jong-Won Kim, S. Jang, 2008, Heart and Vessels.

A polymorphism in the growth hormone receptor is associated with height in children with Prader–Willi syndrome

Jong-Won Kim, Y. Sohn, J. Kwon, 2011, American journal of medical genetics. Part A.

Gaucher disease: Identification of three new mutations in the Korean and Chinese (Taiwanese) populations

Jong-Won Kim, M. Lai, G. Grabowski, 1996, Human mutation.

A complex phenotype of peripheral neuropathy, myopathy, hoarseness, and hearing loss is linked to an autosomal dominant mutation in MYH14

S. Züchner, Jong-Won Kim, H. Koo, 2011, Human mutation.

Three patients with glycogen storage disease type II and the mutational spectrum of GAA in Korean patients.

Dong Hwan Lee, C. Ki, Jong-Won Kim, 2013, Annals of clinical and laboratory science.

Clinical Practice Guidelines for Pre-Analytical Procedures of Plasma Epidermal Growth Factor Receptor Variant Testing

Jong-Won Kim, Kyung-A Lee, Saeam Shin, 2022, Annals of laboratory medicine.

Identification of a novel mutation in the EYA1 gene in a Korean family with branchio-oto-renal (BOR) syndrome.

C. Ki, Jong-Won Kim, E. Cho, 2005, International journal of pediatric otorhinolaryngology.

Complete sequencing of a genetic polymorphism in NAT2 in the Korean population.

C. Ki, O. Kwon, Jong-Won Kim, 2002, Clinical chemistry.

Identification of a Novel DHCR7 Mutation in a Korean Patient With Smith-Lemli-Opitz Syndrome

C. Ki, Jong-Won Kim, J. Chae, 2007, Journal of child neurology.

Predicting Lung Cancer in Korean Never-Smokers with Polygenic Risk Scores

J. Yim, M. Ahn, S. Jee, 2022, bioRxiv.

Identification of TSC1 and TSC2 mutations in Korean patients with tuberous sclerosis complex.

S. Hong, C. Ki, Jong-Won Kim, 2012, Pediatric neurology.

Clinical application of catalytically cleavable fluorescence probe technology for multiplexing quantification of BCR-ABL1 fusion transcripts.

Hee-Jin Kim, C. Ki, Sun-Hee Kim, 2014, Clinica chimica acta; international journal of clinical chemistry.

Clinical application of catalytically cleavable fluorescence probe technology for multiplexing quantification of BCR-ABL1 fusion transcripts.

Hee-Jin Kim, C. Ki, Sun-Hee Kim, 2014, Clinica chimica acta; international journal of clinical chemistry.

Measurement of tyrosine hydroxylase transcripts in bone marrow using biopsied tissue instead of aspirates for neuroblastoma

Y. Suh, Hee-Jin Kim, C. Ki, 2010, Pediatric blood & cancer.

Clinical and genetic analysis of a Korean patient with Fukuyama congenital muscular dystrophy

Munhyang Lee, C. Ki, Jong-Won Kim, 2009, Journal of the Neurological Sciences.

PHOX2B mutations in patients with Ondine–Hirschsprung disease and a review of the literature

Hye Soo Yoo, C. Ki, Jong-Won Kim, 2011, European Journal of Pediatrics.

Clinical and genetic analysis of Korean patients with Cornelia de Lange syndrome: two novel NIPBL mutations.

C. Ki, Jong-Won Kim, H. Park, 2010, Annals of clinical and laboratory science.

Inferring Pathway Activity toward Precise Disease Classification

Doheon Lee, Trey Ideker, Eunjung Lee, 2008, PLoS Comput. Biol..

Genetic Variation in CYP17A1 Is Associated with Arterial Stiffness in Diabetic Subjects

S. E. Park, Jong-Won Kim, Cheol-Young Park, 2012, Experimental diabetes research.

A Population-Based Genomic Study of Inherited Metabolic Diseases Detected Through Newborn Screening

Kyoung-Jin Park, Jong-Won Kim, Soo-Youn Lee, 2016, Annals of laboratory medicine.

Characterization of late-onset citrullinemia 1 in a Korean patient: confirmation by argininosuccinate synthetase gene mutation analysis.

Munhyang Lee, C. Ki, Jong-Won Kim, 2006, Journal of biochemistry and molecular biology.

Mutation profiling of 19 candidate genes in acute myeloid leukemia suggests significance of DNMT3A mutations

Hee-Jin Kim, Sun-Hee Kim, Jong-Won Kim, 2016, Oncotarget.

A Novel Mutation (A148V) in the Glucose 6-phosphate Translocase (SLC37A4) Gene in a Korean Patient with Glycogen Storage Disease Type 1b

C. Ki, Jong-Won Kim, Soo-Youn Lee, 2005, Journal of Korean medical science.

Clinical and genetic analysis of HLXB9 gene in Korean patients with Currarino syndrome

C. Ki, Jong-Won Kim, S. Oh, 2007, Journal of Human Genetics.

Annual Report on External Quality Assessment in Diagnostic Genetics in Korea (2008)

C. Ki, Sun-Hee Kim, Jong-Won Kim, 2009 .

Clinical, biochemical and molecular characterization of Korean patients with mucolipidosis II/III and successful prenatal diagnosis

C. Ki, Jong-Won Kim, Young-Eun Kim, 2017, Orphanet Journal of Rare Diseases.

Nonsyndromic cleft lip with or without cleft palate and cancer: Evaluation of a possible common genetic background through the analysis of GWAS data

M. Nöthen, Jiali Han, C. Skibola, 2016, Genomics data.

Mutant enrichment with 3'-modified oligonucleotides a practical PCR method for detecting trace mutant DNAs.

C. Ki, M. Ahn, Jong-Won Kim, 2011, The Journal of molecular diagnostics : JMD.

Incidence and clinical features of herpes simplex viruses (1 and 2) and varicella‐zoster virus infections in an adult Korean population with aseptic meningitis or encephalitis

D. Na, C. Ki, I. Jo, 2014, Journal of medical virology.

Performance Evaluation of SpliceAI for the Prediction of Splicing of NF1 Variants

Jong-Won Kim, Ja-Hyun Jang, Changhee Ha, 2021, Genes.

Suggestion of BRCA1 c.5339T>C (p.L1780P) variant confer from 'unknown significance' to 'Likely pathogenic' based on clinical evidence in Korea.

Jeong Eon Lee, J. Lee, Sung-Won Kim, 2017, Breast.

Comparative analysis of BRCA1 and BRCA2 variants of uncertain significance in patients with breast cancer: a multifactorial probability-based model versus ACMG standards and guidelines for interpreting sequence variants

C. Ki, E. Cho, Jong-Won Kim, 2016, Genetics in Medicine.

Novel GALT variations and mutation spectrum in the Korean population with decreased galactose-1-phosphate uridyltransferase activity

Dong Hwan Lee, C. Ki, Jong-Won Kim, 2014, BMC Medical Genetics.

Mutations in PRPS1, which encodes the phosphoribosyl pyrophosphate synthetase enzyme critical for nucleotide biosynthesis, cause hereditary peripheral neuropathy with hearing loss and optic neuropathy (cmtx5).

Y. Suh, Hee-Jin Kim, C. Ki, 2007, American journal of human genetics.

Screening of the SOD1, FUS, TARDBP, ANG, and OPTN mutations in Korean patients with familial and sporadic ALS

C. Ki, Jong-Won Kim, M. Kwon, 2012, Neurobiology of Aging.

Spectra of BRCA1 and BRCA2 mutations in Korean patients with breast cancer: the importance of whole-gene sequencing

Jeong Eon Lee, J. Lee, C. Ki, 2012, Journal of Human Genetics.

LIN28B polymorphisms are associated with central precocious puberty and early puberty in girls

Jong-Won Kim, Y. Sohn, D. Jin, 2012, Korean journal of pediatrics.

A novel KRIT1 gene mutation in a patient with cerebral and multiple spinal cavernous malformations.

C. Ki, Jong-Won Kim, J. Cha, 2010, Annals of clinical and laboratory science.

Identification of an Arg35X mutation in the PDCD10 gene in a patient with cerebral and multiple spinal cavernous malformations

C. Ki, Jong-Won Kim, Seung-Tae Lee, 2008, Journal of the Neurological Sciences.

Status of BRCA1/2 Genetic Testing Practices in Korea (2014)

Jong-Won Kim, E. Lee, K. Yoon, 2018 .

Clinical, Biochemical and Genetic Analyses in Two Korean Patients with Medium-chain Acyl-CoA Dehydrogenase Deficiency

Dong Hwan Lee, C. Ki, Jong-Won Kim, 2011, The Korean journal of laboratory medicine.

A Novel Mutation W252X in the WAS Gene in a Korean Patient with Wiskott-Aldrich Syndrome

Hee-Jin Kim, C. Ki, H. Koo, 2006, International journal of hematology.

Clinical Utility of Plasma Cell-Free DNA EGFR Mutation Analysis in Treatment-Naïve Stage IV Non-Small Cell Lung Cancer Patients

M. Ahn, Hojoong Kim, O. Kwon, 2022, Journal of clinical medicine.

C. Ki, Jong-Won Kim, Y. On, 2020, Journal of clinical medicine.

Identification of PSEN1 and APP Gene Mutations in Korean Patients with Early-Onset Alzheimer's Disease

D. Na, C. Ki, Jong-Won Kim, 2008, Journal of Korean medical science.

Spectrum of NOTCH3 mutations in Korean patients with clinically suspicious cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy

D. Na, C. Ki, S. Seo, 2014, Neurobiology of Aging.

Identification of PRODH mutations in Korean neonates with type I hyperprolinemia.

Dong Hwan Lee, C. Ki, Jong-Won Kim, 2013, Annals of clinical and laboratory science.

Genetic association of an apolipoprotein C-I (APOC1) gene polymorphism with late-onset Alzheimer's disease

Chang-Seok Ki, D. Na, C. Ki, 2002, Neuroscience Letters.

Complete STK11 Deletion and Atypical Symptoms in Peutz-Jeghers Syndrome

Jong-Won Kim, B. Ko, Yoo Min Lee, 2017, Annals of laboratory medicine.

Whole-genome sequencing reveals KRTAP1-1 as a novel genetic variant associated with antidepressant treatment outcomes

Y. Suh, Seonwoo Kim, Inho Park, 2021, Scientific Reports.

Multifocality in a Patient with Cribriform-Morular Variant of Papillary Thyroid Carcinoma is an Important Clue for the Diagnosis of Familial Adenomatous Polyposis.

Jong-Won Kim, J. Chung, S. Kim, 2019, Thyroid : official journal of the American Thyroid Association.

DUOX2 Mutations Are Frequently Associated With Congenital Hypothyroidism in the Korean Population

Kyoung-Jin Park, Jong-Won Kim, Soo-Youn Lee, 2015, Annals of laboratory medicine.

Disseminated Hemangioblastomatosis of the Central Nervous System without von Hippel-Lindau Disease: A Case Report

Jung-Il Lee, Y. Suh, Jong-Won Kim, 2009, Journal of Korean medical science.

Atypical Hereditary Sensory and Autonomic Neuropathy Type IV With Neither Mental Retardation Nor Pain Insensitivity

C. Ki, Jong-Won Kim, B. Kim, 2013, Journal of child neurology.

Cryptic microdeletion of the CREBBP gene from t(1;16) (p36.2;p13.3) as a novel genetic defect causing Rubinstein-Taybi syndrome.

Hee-Jin Kim, Jong-Won Kim, J. Kwon, 2013, Annals of clinical and laboratory science.

Clinical Findings of Genotypes in Korean Patients with Glycogen Storage Disease Type Ia

Jong-Won Kim, J. Seo, J. Ko, 2005 .

EnsemPro: an ensemble approach to predicting transcription start sites in human genomic DNA sequences.

Hong-Hee Won, H. Won, Seonwoo Kim, 2008, Genomics.

Evidence that 6q25.1 variant rs6931104 confers susceptibility to chronic myeloid leukemia through RMND1 regulation

Jong-Won Kim, N. Lee, Dennis (Dong Hwan) Kim, 2019, PloS one.

Principles of Genetic Counseling in the Era of Next-Generation Sequencing

Mina Yang, Jong-Won Kim, Jong-Won Kim, 2018, Annals of laboratory medicine.

Comprehensive clinical characterization of patients with BRCA1: c.5017_5019del germline variant

Sung-Won Kim, Jong-Won Kim, B. Jung, 2022, Annals of surgical treatment and research.

One case of endometrial cancer occurrence: Over 10 years after colon cancer in Lynch family

Eun Hee Lee, Jong-Won Kim, H. Lee, 2013, Obstetrics & gynecology science.

Germline Variants in MLH1, MSH2, and MSH6 in Korean Patients with Lynch Syndrome

D. Chang, H. Kim, Kyoung-Jin Park, 2018 .

SNP Linkage Analysis and Whole Exome Sequencing Identify a Novel POU4F3 Mutation in Autosomal Dominant Late-Onset Nonsyndromic Hearing Loss (DFNA15)

G. Vriend, Hee-Jin Kim, C. Ki, 2013, PloS one.

Clinical Features and Mutations in the ENG, ACVRL1, and SMAD4 genes in Korean Patients with Hereditary Hemorrhagic Telangiectasia

C. Ki, Jong-Won Kim, G. Suh, 2009, Journal of Korean medical science.

New variations of the EDNRB gene and its association with sporadic Hirschsprung's disease in Korea.

Hyungtae Kim, Jong-Won Kim, Jeong-Meen Seo, 2006, Journal of pediatric surgery.

A Korean Patient with Early Juvenile Form of Metachromatic Leukodystrophy: Biochemical and Molecular Genetic Investigation

C. Ki, Jong-Won Kim, Soo-Youn Lee, 2017 .

Mutation spectrum of the ASS1 gene in Korean patients with citrullinemia type I.

Dong Hwan Lee, C. Ki, Jong-Won Kim, 2013, Clinical biochemistry.

UGT1A7 haplotype is associated with an increased risk of hepatocellular carcinoma in hepatitis B carriers

C. Ki, Jong-Won Kim, S. Kong, 2008, Cancer science.

Evaluation of imprecision for analysis of short tandem repeats by use of mixed blood cells in variable concentrations.

Hee-Jin Kim, C. Ki, Sun-Hee Kim, 2004, Clinical chemistry.

The First Korean Case of SLC12A3 Aberrant Skipping of Two Exons Detected by RNA Splicing Analysis

Jong-Won Kim, Kiwoong Ko, 2021, Case Reports in Nephrology and Dialysis.

PHKA2 mutation spectrum in Korean patients with glycogen storage disease type IX: prevalence of deletion mutations

C. Ki, Jong-Won Kim, Soo-Youn Lee, 2016, BMC Medical Genetics.

Identification of novel PKD1 and PKD2 mutations in Korean patients with autosomal dominant polycystic kidney disease

C. Ki, C. Ahn, Jong-Won Kim, 2014, BMC Medical Genetics.

A novel in-frame deletion in the CAV3 gene in a Korean patient with rippling muscle disease

Y. Suh, C. Ki, Jong-Won Kim, 2007, Journal of the Neurological Sciences.

Incidence and clinical significance of human parvovirus B19 infection in kidney transplant recipients

C. Ki, Jong-Won Kim, J. Joh, 2005, Clinical transplantation.

Identification of HLA-DRB1 Alleles Associated with Graves' Disease in Koreans by Sequence-Based Typing

Jong-Won Kim, Hyun-Jung Cho, J. Chung, 2011, Immunological investigations.

Two Novel Mutations in the C7 gene in a Korean Patient with Complement C7 Deficiency

Hee-Jin Kim, C. Ki, Jong-Won Kim, 2005, Journal of Korean medical science.

Identification of a novel mutation in a Korean patient with oculopharyngeal muscular dystrophy

C. Ki, Jong-Won Kim, B. Kim, 2007, Journal of Clinical Neuroscience.

A Case of Oculopharyngeal Muscular Dystrophy Due to a Novel Mutation of the PABPN1 Gene

C. Ki, Jong-Won Kim, B. Kim, 2005 .

The First Korean Family With Hereditary Gelsolin Amyloidosis Caused by p.D214Y Mutation in the GSN Gene

Kyoung-Jin Park, Jong-Won Kim, B. Kim, 2016, Annals of laboratory medicine.

Performance of the Real-Q EBV Quantification Kit for Epstein-Barr Virus DNA Quantification in Whole Blood

Sun Ae Yun, C. Ki, Jong-Won Kim, 2016, Annals of laboratory medicine.

Necessity of multiplex ligation probe amplification in genetic tests: Germline variant analysis of the APC gene in familial adenomatous polyposis patients.

D. Chang, H. Kim, Jong-Won Kim, 2022, Cancer genetics.

RET proto-oncogene mutations are restricted to codon 634 and 618 in Korean families with multiple endocrine neoplasia 2A.

C. Ki, Jong-Won Kim, Moon-Kyu Lee, 2004, Thyroid : official journal of the American Thyroid Association.

A genome-wide association study identifies novel loci associated with susceptibility to chronic myeloid leukemia.

H. Won, J. Lipton, Jong-Won Kim, 2011, Blood.

Mutation analysis of PAH gene and characterization of a recurrent deletion mutation in Korean patients with phenylketonuria

Dong Hwan Lee, C. Ki, Sun-Hee Kim, 2008, Experimental & Molecular Medicine.

Novel mechanism of a CDH1 splicing mutation in a Korean patient with signet ring cell carcinoma.

C. Ki, Jong-Won Kim, Kyoung-Mee Kim, 2011, BMB reports.

Genetic polymorphism of CYP17 and breast cancer risk in Korean women

Sei-Hyun Ahn, Dong-Young Noh, Seok Jin Nam, 2005, Experimental & Molecular Medicine.

Haplotype structure of the UDP-glucuronosyltransferase 1A1 (UGT1A1) gene and its relationship to serum total bilirubin concentration in a male Korean population.

Hee-Jin Kim, C. Ki, Jong-Won Kim, 2003, Clinical chemistry.

Haplotype Structure of the Udp-glucuronosyltrans- Ferase 1a1 (ugt1a1) Gene and Its Relationship to Serum Total Bilirubin Concentration in a Male Korean

Hee-Jin Kim, C. Ki, Jong-Won Kim, 2022 .

Five novel mutations of GALNS in Korean patients with mucopolysaccharidosis IVA

C. Ki, Jong-Won Kim, Y. Sohn, 2013, American journal of medical genetics. Part A.

The First Korean Case of Mucopolysaccharidosis IIIC (Sanfilippo Syndrome Type C) Confirmed by Biochemical and Molecular Investigation

C. Ki, Jong-Won Kim, Soo-Youn Lee, 2012, Annals of laboratory medicine.

Efficacy of Annexin A1 Immunostaining in Bone Marrow for the Diagnosis of Hairy Cell Leukemia

Sun-Hee Kim, Jong-Won Kim, C. Jung, 2019, Laboratory Medicine Online.

Three Korean patients with maple syrup urine disease: four novel mutations in the BCKDHA gene.

Dong Hwan Lee, C. Ki, Jong-Won Kim, 2011, Annals of clinical and laboratory science.

Triage of patients with AUS/FLUS on thyroid cytopathology: effectiveness of the multimodal diagnostic techniques

C. Ki, Jong-Won Kim, S. Hahn, 2016, Cancer medicine.

CYP21A2 Mutation Analysis in Korean Patients With Congenital Adrenal Hyperplasia Using Complementary Methods: Sequencing After Long-Range PCR and Restriction Fragment Length Polymorphism Analysis With Multiple Ligation-Dependent Probe Amplification Assay

C. Ki, Jong-Won Kim, Soo-Youn Lee, 2015, Annals of Laboratory Medicine.

Genetic Characteristics of Polycythemia Vera and Essential Thrombocythemia in Korean Patients

B. Merriman, Hee-Jin Kim, Sun-Hee Kim, 2016, Journal of clinical laboratory analysis.

Detection of MYD88 L265P in patients with lymphoplasmacytic lymphoma/Waldenstrom macroglobulinemia and other B-cell non-Hodgkin lymphomas

Jong-Won Kim, S. Kim, W. Kim, 2016, Blood research.

Genotypic differences of MCAD deficiency in the Asian population: Novel genotype and clinical symptoms preceding newborn screening notification

Jong-Won Kim, P. Rinaldo, D. Matern, 2005, Genetics in Medicine.

Challenges in assessing pathogenicity based on frequency of variants in mismatch repair genes: an extreme case of a MSH2 variant and a meta-analysis.

C. Ki, Jong-Won Kim, Seung-Tae Lee, 2014, Gene.

Clinicopathological Characterization of Double Heterozygosity for BRCA1 and BRCA2 Variants in Korean Breast Cancer Patients

J. Lee, Jong-Won Kim, Se Kyung Lee, 2021, Cancer research and treatment.

Inference of brain pathway activities for Alzheimer's disease classification

Younghoon Kim, Doheon Lee, Yong Jeong, 2015, BMC Medical Informatics and Decision Making.

Heterogeneous Spectrum of CFTR Gene Mutations in Korean Patients with Cystic Fibrosis

C. Ki, Jong-Won Kim, S. Cha, 2011, The Korean journal of laboratory medicine.

A Case of Crigler-Najjar Syndrome Type 2 Diagnosed Using Genetic Mutation Analysis

C. Ki, Jong-Won Kim, Seung-Tae Lee, 2008 .

Clinical severity of viral myocarditis is not associated with a mutation of dystrophin gene cleavage sites.

Jong-Won Kim, E. Jeon, B. Lim, 2015, International journal of cardiology.

Distribution and clinical impact of apolipoprotein E4 in subjective memory impairment and early mild cognitive impairment

D. Na, C. Ki, S. Seo, 2020, Scientific Reports.

Mutation analysis of SPG4 and SPG3A genes and its implication in molecular diagnosis of Korean patients with hereditary spastic paraplegia.

Hee-Jin Kim, C. Ki, Jong-Won Kim, 2005, Archives of neurology.

Mutation Analysis of SPG 4 and SPG 3 A Genes and Its Implication in Molecular Diagnosis of Korean Patients With Hereditary Spastic Paraplegia

Hee-Jin Kim, C. Ki, Jong-Won Kim, 2005 .

A novel missense mutation (I344K) in the SPG4 gene in a Korean family with autosomal-dominant hereditary spastic paraplegia

C. Ki, Jong-Won Kim, Seunghee Cho, 2002, Journal of Human Genetics.

A Novel Germline Mutation in Exon 10 of the SMAD4 Gene in a Familial Juvenile Polyposis

H. Choi, Jong-Won Kim, S. Park, 2013, Gut and liver.

Clinical and Genetic Analysis of Korean Patients with Miyoshi Myopathy: Identification of Three Novel Mutations in the DYSF Gene

C. Ki, Jong-Won Kim, Hyun-Jung Cho, 2006, Journal of Korean medical science.

Isolated monocytosis was the flag preceding abnormalities in other parameters of complete blood counts in chronic myeloid leukemia with e1a2 (minor, P190) BCR-ABL1 chimeric transcripts

Hee-Jin Kim, Sun-Hee Kim, Jong-Won Kim, 2019, Precision and Future Medicine.

Association of CFTR gene variants with nontuberculous mycobacterial lung disease in a Korean population with a low prevalence of cystic fibrosis

C. Ki, Jong-Won Kim, Mi-Ae Jang, 2013, Journal of Human Genetics.

Direct-to-consumer genetic testing

Jong-Won Kim, 2019, Genomics & informatics.

Clinical and Genetic Analysis of Korean Patients with Facioscapulohumeral Muscular Dystrophy

C. Ki, Jong-Won Kim, Yoon-Ho Hong, 2008, Journal of Korean medical science.

Novel Alzheimer’s disease risk variants identified based on whole-genome sequencing of APOE ε4 carriers

D. Y. Lee, D. Na, S. Seo, 2021, Translational Psychiatry.

Novel mutations of RET gene in Korean patients with sporadic Hirschsprung's disease.

Jong-Won Kim, Jeong-Meen Seo, S. Lee, 2006, Journal of pediatric surgery.

Detection Methods and Status of CAT Interruption of ATXN1 in Korean Patients With Spinocerebellar Ataxia Type 1

Jong-Won Kim, J. Cho, Ja-Hyun Jang, 2022, Annals of laboratory medicine.

Sequence Variations and Haplotypes of the GJB2 Gene Revealed by Resequencing of 192 Chromosomes from the General Population in Korea

H. Won, Jong-Won Kim, S. Hong, 2010, Clinical and experimental otorhinolaryngology.

Performance Evaluation of the Real-Q Cytomegalovirus (CMV) Quantification Kit Using Two Real-Time PCR Systems for Quantifying CMV DNA in Whole Blood

Sun Ae Yun, C. Ki, Jong-Won Kim, 2016, Annals of laboratory medicine.

Clinical, biochemical, and genetic analysis of a Korean neonate with hereditary tyrosinemia type 1

Dong Hwan Lee, C. Ki, Jong-Won Kim, 2009, Clinical chemistry and laboratory medicine.

KMD: Korean mutation database for genes related to diseases

Jong-Won Kim, H. Cheong, Hyun-Young Park, 2012, Human mutation.

Mutation analysis of the GNE gene in Korean patients with distal myopathy with rimmed vacuoles

C. Ki, Jong-Won Kim, B. Kim, 2006, Journal of Human Genetics.

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

S. Park, C. Ki, Jong-Won Kim, 2019, Molecular genetics & genomic medicine.

Adeno-Associated Virus 2-Mediated Hepatocellular Carcinoma is Very Rare in Korean Patients

Kyoung-Jin Park, Jong-Won Kim, J. Joh, 2016, Annals of laboratory medicine.

Effective screen for amyloid β aggregation inhibitor using amyloid β-conjugated gold nanoparticles

D. Na, Jong-Won Kim, I. Mook‐Jung, 2010, International journal of nanomedicine.

Effects of apolipoprotein E phenotypes on the neuropsychological functions of community-dwelling elderly individuals without dementia

Jong-Won Kim, Hye-Youn Cho, J. Chey, 2000, Neuroscience Letters.

A Case of Nonaka Myopathy Confirmed by GNE Mutation

C. Ki, Jong-Won Kim, J. Han, 2005 .

Identification of DCX gene mutation in lissencephaly spectrum with subcortical band heterotopia using whole exome sequencing.

C. Ki, Jong-Won Kim, Mi-Ae Jang, 2013, Pediatric neurology.

A Simple and Rapid Method Based on Liquid Chromatography-Tandem Mass Spectrometry for the Measurement of α-L-Iduronidase Activity in Dried Blood Spots: An Application to Mucopolysaccharidosis I (Hurler) Screening

Jong-Won Kim, Soo-Youn Lee, Jeong-Soo Yang, 2014, Annals of Laboratory Medicine.

High Frequency of Microsatellite Instability in Intestinal-type Gastric Cancer in Korean Patients

C. Ki, Jong-Won Kim, Sun-Young Lee, 2005, The Korean journal of internal medicine.

Two novel mutations in the EPM2A gene in a Korean patient with Lafora's progressive myoclonus epilepsy

D. Seo, S. Hong, C. Ki, 2003, Journal of Human Genetics.

Hormone replacement therapy in postmenopausal women with Alzheimer's disease: a randomized, prospective study.

D. Na, Jong-Won Kim, B. Yoon, 2003, Fertility and sterility.

A Novel Frameshift Mutation of the USH2A Gene in a Korean Patient with Usher Syndrome Type II

Hee-Jin Kim, Jong-Won Kim, S. Hong, 2011, Clinical and experimental otorhinolaryngology.

Novel CFTR Mutations in a Korean Infant with Cystic Fibrosis and Pancreatic Insufficiency

C. Ki, Jong-Won Kim, Y. Choe, 2009, Journal of Korean medical science.

Effects of 7 hemoglobin variants on the measurement of glycohemoglobin by 14 analytical methods.

C. Ki, Jong-Won Kim, C. Weykamp, 2007, Clinical chemistry.

Clinical, biochemical, and genetic analysis of korean patients with pseudohypoparathyroidism type Ia.

Jong-Won Kim, Y. Sohn, Soo-Youn Lee, 2010, Annals of clinical and laboratory science.

Analysis of intrapatient heterogeneity uncovers the microevolution of Middle East respiratory syndrome coronavirus

Yeon Jeong Kim, C. Ki, W. Park, 2016, Cold Spring Harbor molecular case studies.

Papillary thyroid carcinoma with BRAFV600E mutation: sonographic prediction.

Jong-Won Kim, B. Han, E. Ko, 2010, AJR. American journal of roentgenology.

Identification of a novel mutation in the ectodysplasin A gene in a Korean family with X‐linked hypohidrotic ectodermal dysplasia

Hee-Jin Kim, C. Ki, Jong-Won Kim, 2011, International journal of dermatology.

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

Eunjung Lee, Inho Park, Jong-Won Kim, 2018, BMC Bioinformatics.

Identification of two novel COL3A1 variants in patients with vascular Ehlers‐Danlos syndrome

Jong-Won Kim, T. Park, S. Jang, 2023, Molecular genetics & genomic medicine.

Mutant Enrichment with 3′‐Modified Oligonucleotides (MEMO)‐Quantitative PCR for Detection of NPM1 Mutations in Acute Myeloid Leukemia

Hee-Jin Kim, C. Ki, Sun-Hee Kim, 2015, Journal of clinical laboratory analysis.

Clinical Characteristics and Genetic Analysis ofPrader-Willi Syndrome

Sun-Hee Kim, Jong-Won Kim, J. Lee, 2002 .

Clinical Characteristics and Genotype-Phenotype Correlation of Korean Patients with Spinal and Bulbar Muscular Atrophy

C. Ki, Jong-Won Kim, B. Kim, 2015, Yonsei medical journal.

Improved Detection of Germline Mutations in Korean VHL Patients by Multiple Ligation-dependent Probe Amplification Analysis

C. Ki, Jong-Won Kim, Hyun‐Jung Cho, 2009, Journal of Korean medical science.

X-linked Opitz G/BBB Syndrome: Identification of a Novel Mutation and Prenatal Diagnosis in a Korean Family

Hee-Jin Kim, C. Ki, Jong-Won Kim, 2006, Journal of Korean medical science.

Lack of association of the interleukin‐1α gene polymorphism with Alzheimer's disease in a Korean population

D. K. Kim, D. Na, C. Ki, 2001, Annals of neurology.

Correction: SORL1 Is Genetically Associated with Late-Onset Alzheimer’s Disease in Japanese, Koreans and Caucasians

J. Haines, M. Pericak-Vance, G. Schellenberg, 2013, PLoS ONE.

Application of whole exome sequencing to a rare inherited metabolic disease with neurological and gastrointestinal manifestations: a congenital disorder of glycosylation mimicking glycogen storage disease.

C. Ki, Jong-Won Kim, Soo-Youn Lee, 2015, Clinica chimica acta; international journal of clinical chemistry.

A novel COL3A1 gene mutation in patient with aortic dissected aneurysm and cervical artery dissections

C. Ki, Jong-Won Kim, S. Jang, 2008, Heart and Vessels.

A novel ATP7A gross deletion mutation in a Korean patient with Menkes disease.

Munhyang Lee, C. Ki, Jong-Won Kim, 2009, Annals of clinical and laboratory science.

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

Seong-Hyeuk Nam, Inho Park, Eunjung Lee, 2018, BMC Bioinformatics.

Short communication Identification of an Arg35X mutation in the PDCD10 gene in a patient with cerebral and multiple spinal cavernous malformations

C. Ki, Jong-Won Kim, Seung-Tae Lee, 2008 .

BRAF V600E and MAP2K1 Mutations in Hairy Cell Leukemia and Splenic Marginal Zone Lymphoma Cases

Hee-Jin Kim, C. Ki, Sun-Hee Kim, 2015, Annals of laboratory medicine.

Spectrum of NOTCH3 mutations in Korean patients with clinically suspicious cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy

D. Na, C. Ki, S. Seo, 2014, Neurobiology of Aging.

Evaluation of the Real-Q BRAF V600E Detection Assay in Fine-Needle Aspiration Samples of Thyroid Nodules.

C. Ki, Jong-Won Kim, Y. Oh, 2015, The Journal of molecular diagnostics : JMD.

A Case of Next-generation Sequencing Gene Testing: Points to be Considered in Testing and Reporting

Jong-Won Kim, Na-Kyoung Kim, 2022, Annals of laboratory medicine.