J. Choi

N. Park, J. Choi, K. Chung, 2006, Clinical and applied thrombosis/hemostasis : official journal of the International Academy of Clinical and Applied Thrombosis/Hemostasis.

A heparin binding site Arg79Cys missense mutation in the SERPINC1 gene in a Korean patient with hereditary antithrombin deficiency.

Hee-Jin Kim, J. Choi, Kyung-A Lee, 2011, Annals of clinical and laboratory science.

FLT3 Internal Tandem Duplication in Patients With Acute Myeloid Leukemia Is Readily Detectable in a Single Next-Generation Sequencing Assay Using the Pindel Algorithm

J. Choi, Y. Min, Seung Tae Lee, 2019, Annals of laboratory medicine.

Accuracy of Next-Generation Sequencing for Molecular Diagnosis in Patients With Infantile Nystagmus Syndrome

J. Choi, H. Gee, Jinu Han, 2017, JAMA ophthalmology.

Effectiveness of Real-Time Quantitative PCR Compare to Repeat PCR for the Diagnosis of Charcot-Marie-Tooth Type 1A and Hereditary Neuropathy with Liability to Pressure Palsies

J. Choi, I. Sunwoo, Jong-Baeck Lim, 2005, Yonsei medical journal.

Precision Medicine through Next-Generation Sequencing in Inherited Eye Diseases in a Korean Cohort

J. Choi, Jinu Han, Saeam Shin, 2021, Genes.

Newborn hereditary elliptocytosis confirmed by familial genetic testing

J. Choi, Seung-Tae Lee, Hyun Ok Kim, 2020, International journal of laboratory hematology.

Bone Marrow Chimerism Detection Using Next Generation Sequencing Based on Single Nucleotide Polymorphisms Following Liver Transplantation: Comparison With Short Tandem Repeat-PCR

J. Choi, Insik Hwang, Jieun Kim, 2015, Annals of laboratory medicine.

The TECTA mutation R1890C is identified as one of the causes of genetic hearing loss: a case report

J. Choi, H. Gee, J. Rim, 2019, BMC Medical Genetics.

Tissue transglutaminase autoantibodies in patients with IgM rheumatoid factors.

J. Choi, K. Song, 2004, Yonsei medical journal.

Clinical Evaluation of Massively Parallel RNA Sequencing for Detecting Recurrent Gene Fusions in Hematologic Malignancies.

J. Choi, Saeam Shin, Seung-Tae Lee, 2019, The Journal of molecular diagnostics : JMD.

Detection of an Ala601Thr mutation of plasminogen gene in 3 out of 36 Korean patients with deep vein thrombosis.

J. Choi, K. Song, Seung Moo Lee, 2003, Journal of Korean medical science.

The effect of trauma and PTSD on telomere length: An exploratory study in people exposed to combat trauma

J. Choi, Se Joo Kim, J. Kang, 2017, Scientific Reports.

Ambras syndrome in a Korean patient with balanced pericentric inversion (8)(p11.2q24.2).

A. Christiano, J. Choi, Juwon Kim, 2010, Journal of dermatological science.

Breakpoint mapping by whole genome sequencing identifies PTH2R gene disruption in a patient with midline craniosynostosis and a de novo balanced chromosomal rearrangement

H. Won, J. Choi, Yoonjung Kim, 2015, Journal of Medical Genetics.

In-depth circulating tumor DNA sequencing for prognostication and monitoring in natural killer/T-cell lymphomas

J. Choi, S. Kim, W. Kim, 2023, Frontiers in Oncology.

Case Report and Review of the Literature: Chronic Myelomonocytic Leukemia with der(9)t(1;9)(q11;q34) as a Sole Abnormality

Jong Rak Choi, Jaewoo Song, Jin Seok Kim, 2009 .

Genetic Analysis and Clinical Characteristics of Hereditary Pheochromocytoma and Paraganglioma Syndrome in Korean Population

J. Choi, Seung Tae Lee, Y. Rhee, 2020, Endocrinology and metabolism.

J. Choi, J. Cheong, T. Park, 2009, Leukemia research.

The First Korean Case of Camurati-Engelmann Disease (Progressive Diaphyseal Dysplasia) Confirmed by TGFB1 Gene Mutation Analysis

J. Choi, Kyung-A Lee, C. Yoon, 2009, Journal of Korean medical science.

Delta Neutrophil Index: A Promising Diagnostic and Prognostic Marker for Sepsis

Jong Rak Choi, Young Keun Kim, Jaewoo Song, 2012, Shock.

Clinical characteristics of KCNQ2 encephalopathy

Hoon-Chul Kang, H. Kim, J. Choi, 2020, Brain and Development.

A Case of Therapy-Related Acute Leukemia With Mixed Phenotype With BCR-ABL1 After Treatment of Diffuse Large B-Cell Lymphoma

J. Choi, H. Hwang, S. Cho, 2016, Annals of laboratory medicine.

Identification of cell morphology parameters from automatic hematology analyzers to predict the peripheral blood CD34-positive cell count after mobilization

J. Choi, Kyung-A Lee, Sinyoung Kim, 2017, PloS one.

Detection of FUS-ERG chimeric transcript in two cases of acute myeloid leukemia with t(16;21)(p11.2;q22) with unusual characteristics.

J. Choi, Juwon Kim, Kyung-A Lee, 2009, Cancer genetics and cytogenetics.

Chimerism Assay Using Single Nucleotide Polymorphisms Adjacent and in Linkage-Disequilibrium Enables Sensitive Disease Relapse Monitoring after Hematopoietic Stem-Cell Transplantation.

J. Choi, Yu Jin Park, Jieun Seo, 2021, Clinical chemistry.

The Role of Ion Channel-Related Genes in Autism Spectrum Disorder: A Study Using Next-Generation Sequencing

J. Choi, K. Cheon, Seung-Tae Lee, 2021, Frontiers in Genetics.

Anovelfibrinogen variant (fibrinogen Seoul II;AGln328Pro) characterized by impairedfibrin -chain cross-linking

S. An, J. Choi, K. Chung, 2006 .

Constitutional pericentric inversion 9 and hematological disorders: a Korean tertiary institution's experience over eight years.

J. Choi, Kyung-A Lee, T. Park, 2010, Annals of clinical and laboratory science.

Reanalysis of Genomic Sequencing Results in a Clinical Laboratory: Advantages and Limitations

Hoon-Chul Kang, J. Choi, Seung-Tae Lee, 2020, Frontiers in Neurology.

Association between survivor motor neuron 2 (SMN2) gene homozygous deletion and sporadic lower motor neuron disease in a Korean population.

J. Choi, Juwon Kim, Kyung-A Lee, 2010, Annals of clinical and laboratory science.

Copy number variations and multiallelic variants in Korean patients with Leber congenital amaurosis

J. Choi, Jinu Han, Saeam Shin, 2020, Molecular vision.

Analytical validation of the droplet digital PCR assay for diagnosis of spinal muscular atrophy.

J. Choi, Kyung-A Lee, Saeam Shin, 2020, Clinica chimica acta; international journal of clinical chemistry.

[A case of pseudoisodicentric chromosome 18q detected at prenatal diagnosis].

Min Jin Kim, J. Choi, Kyung-A Lee, 2010, The Korean journal of laboratory medicine.

A novel PTEN mutation in a Korean patient with Cowden syndrome and vascular anomalies.

S. Lee, J. Choi, Kyung-A Lee, 2011, Acta dermato-venereologica.

A molecular model of a point mutation (Val297Met) in the serine protease domain of protein C

Q. Park, J. Choi, H. K. Kim, 1999, Experimental and Molecular Medicine.

PTPN23 Neurodevelopmental Disorder Presenting With Optic Atrophy and Spasmus Nutans-Like Nystagmus.

J. Choi, Seung-Tae Lee, Dongju Won, 2022, Journal of neuro-ophthalmology : the official journal of the North American Neuro-Ophthalmology Society.

Next-generation sequencing of BRCA1/2 in breast cancer patients: potential effects on clinical decision-making using rapid, high-accuracy genetic results

H. Park, Seho Park, Seung Il Kim, 2017, Annals of surgical treatment and research.

Two childhood cases of acute leukemia with t(16;21)(p11.2;q22): second case report of infantile acute lymphoblastic leukemia with unusual type of FUS-ERG chimeric transcript.

J. Choi, Juwon Kim, J. Shin, 2010, Cancer genetics and cytogenetics.

Clinical evaluation of micro-scale chip-based PCR system for rapid detection of hepatitis B virus.

Jong Rak Choi, Suhyeon Kim, Yoon-Kyoung Cho, 2006, Biosensors & bioelectronics.

der(1)t(1;19)(p13;p13.1) in two elderly patients with myeloid neoplasms: new case reports and review of the literature.

J. Choi, Seung Tae Lee, T. Park, 2009, Leukemia research.

Association between acute promyelocytic leukemia and ring chromosome 6.

J. Choi, Juwon Kim, Y. Min, 2009, Cancer genetics and cytogenetics.

The Genotype-Phenotype Correlation in Human 5α-Reductase Type 2 Deficiency: Classified and Analyzed from a SRD5A2 Structural Perspective

J. Choi, Jieun Seo, Saeam Shin, 2023, International journal of molecular sciences.

Development and Comparison of Warfarin Dosing Algorithms in Stroke Patients

J. Choi, Kyung-A Lee, Kyung-Yul Lee, 2016, Yonsei medical journal.

Detecting low-variant allele frequency mosaic pathogenic variants of NF1, TSC2, and AKT3 genes from blood in patients with neurodevelopmental disorders.

Soon Sung Kwon, Hoon-Chul Kang, H. Kim, 2023, The Journal of molecular diagnostics : JMD.

Next-generation sequencing with comprehensive bioinformatics analysis facilitates somatic mosaic APC gene mutation detection in patients with familial adenomatous polyposis

Hoguen Kim, J. Choi, Seung-Tae Lee, 2019, BMC Medical Genomics.

Detection of Immunoglobulin Heavy Chain Gene Clonality by Next-Generation Sequencing for Minimal Residual Disease Monitoring in B-Lymphoblastic Leukemia

J. Choi, Kyung-A Lee, Insik Hwang, 2017, Annals of laboratory medicine.

Plasma Factor XIII Activity in Patients with Disseminated Intravascular Coagulation

J. Choi, K. Song, Jaewoo Song, 2006, Yonsei medical journal.

Presence of 844ins68 in the Cystathionine β-Synthase Gene in Asians (Koreans)

J. Choi, H. K. Kim, K. Song, 2001, Thrombosis and Haemostasis.

Telomere length in alcohol dependence: A role for impulsive choice and childhood maltreatment

J. Choi, Se Joo Kim, J. Kang, 2017, Psychoneuroendocrinology.

Isodicentric Chromosome 15 Syndrome in a Korean Patient With Café-au-lait Spots

J. Choi, J. Rim, Saeam Shin, 2015, Annals of Laboratory Medicine.

Copy‐number analysis by base‐level normalization: An intuitive visualization tool for evaluating copy number variations

J. Choi, Saeam Shin, Seung-Tae Lee, 2022, Clinical genetics.

Copy-number Analysis by Base-level Normalization (CABANA): An Intuitive Visualization Tool for Confirming True Copy Number Variations

J. Choi, Saeam Shin, Seung-Tae Lee, 2022 .

The phenotype and treatment of SCN2A-related developmental and epileptic encephalopathy.

Hoon-Chul Kang, H. Kim, J. Choi, 2020, Epileptic disorders : international epilepsy journal with videotape.

Development and validation of sensitive BCR::ABL1 fusion gene quantitation using next-generation sequencing

J. Choi, Jieun Seo, Saeam Shin, 2023, Cancer Cell International.

Evaluation of HER2/neu status by real-time quantitative PCR in breast cancer.

Jong Rak Choi, J. Choi, Young Ree Kim, 2002, Yonsei medical journal.

Concomitant AID Expression and BCL7A Loss Associates With Accelerated Phase Progression and Imatinib Resistance in Chronic Myeloid Leukemia

Saeam Shin, Nae Yu, Jong Rak Choi, 2016, Annals of laboratory medicine.

Letter to the Editor: Diagnostic Standardization of Leukemia Fusion Gene Detection System using Multiplex Reverse Transcriptase-polymerase Chain Reaction in Korea

Min Jin Kim, J. Choi, J. Suh, 2011, Journal of Korean medical science.

Circulating Tumor DNA Reflects Histologic and Clinical Characteristics of Various Lymphoma Subtypes.

J. Choi, Saeam Shin, Seung-Tae Lee, 2023, Cancer research and treatment.

Becker muscular dystrophy with r(X) carrying an out-of-frame DMD deletion.

J. Choi, Kyung-A Lee, Sung-Hee Han, 2008, Pediatric neurology.

A Novel Fibrinogen Variant ( Fibrinogen Seoul II ; A α Gln 328 Pro ) Characterized by Impaired Fibrin α-chain Cross-linking Short title : Fibrinogen Seoul II

S. An, J. Choi, K. Chung, 2006 .

Efficient strategy for the molecular diagnosis of intractable early-onset epilepsy using targeted gene sequencing

Soon Sung Kwon, Hoon-Chul Kang, H. Kim, 2018, BMC Medical Genomics.

Clinical Meaning of INNO-LiPA Test in the Diagnosis of Rifampin Resistant Tuberculosis

Y. Chang, J. Choi, H. J. Kim, 2003 .

Rapid Identification of Thrombocytopenia-Associated Multiple Organ Failure Using Red Blood Cell Parameters and a Volume/Hemoglobin Concentration Cytogram

Young Keun Kim, Kyung-A Lee, J. Choi, 2011, Yonsei medical journal.

Whole exome sequencing identifies mutational signatures of vitreoretinal lymphoma

J. Choi, Seung-Tae Lee, S. C. Lee, 2020, Haematologica.

Clinical Implication of Highly Sensitive Detection of the BRAFV600E Mutation in Fine-Needle Aspirations According to the Thyroid Bethesda System in Patients With Conventional Papillary Thyroid Carcinoma

Jae Young Seo, Kyunghwa Han, J. Choi, 2015, The Annals of otology, rhinology, and laryngology.

Exploring the Characteristics of Circulating Tumor DNA in Pt1a Clear Cell Renal Cell Carcinoma: A Pilot Study

J. Choi, J. Park, W. Ham, 2023, Cancers.

Minor BCR-ABL1-Positive Acute Myeloid Leukemia Associated With the NPM1 Mutation and FLT3 Internal Tandem Duplication

J. Choi, S. Jeong, J. Jang, 2016, Annals of laboratory medicine.

Isolated 9p Duplication With der(Y)t(Y;9)(q12;p13.2) in a Male Patient With Cardiac Defect and Mental Retardation Confirmed by Chromosomal Microarray

J. Choi, Saeam Shin, Seung-Tae Lee, 2015, Annals of laboratory medicine.

Application of Multiplex Ligation-Dependent Probe Amplification Assay for Genotyping Major Blood Group Systems Including DEL Variants in the D-Negative Korean Population

J. Choi, Sinyoung Kim, Seung-Tae Lee, 2017, Annals of laboratory medicine.

Frequency and Clinical Characteristics of Intrachromosomal Amplification of Chromosome 21 in Korean Childhood B-lineage Acute Lymphoblastic Leukemia

J. Choi, Jieun Kim, Saeam Shin, 2016, Annals of laboratory medicine.

Genetic diagnosis of inborn errors of immunity using clinical exome sequencing

Soon Sung Kwon, J. Choi, Jong Gyun Ahn, 2023, Frontiers in Immunology.

Circulating Tumor DNA Analysis on Metastatic Prostate Cancer with Disease Progression

J. Choi, K. Cho, Saeam Shin, 2023, Cancers.

Clinical relevance of clonal hematopoiesis and its interference in cell-free DNA profiling of patients with gastric cancer

Soon Sung Kwon, J. Choi, S. Rha, 2023, Clinical Chemistry and Laboratory Medicine.

Analytical and Clinical Validation of Cell-Free Circulating Tumor DNA Assay for the Estimation of Tumor Mutational Burden.

J. Choi, H. Chung, S. Rha, 2022, Clinical chemistry.

Identification of Adenovirus, Influenza Virus, Parainfluenza Virus, and Respiratory Syncytial Virus by Two Kinds of Multiplex Polymerase Chain Reaction (PCR) and a Shell Vial Culture in Pediatric Patients with Viral Pneumonia

J. Choi, D. S. Kim, J. Chun, 2010, Yonsei medical journal.

Establishment of a novel human iPSC line (YCMi003-A) from a patient with dilated cardiomyopathy carrying genetic variant LMNA p.Asp364His.

J. Choi, Sahng-Wook Park, Seok‐Min Kang, 2021, Stem cell research.

MLL rearrangement with t(6;11)(q15;q23) as a sole abnormality in a patient with de novo acute myeloid leukemia: conventional cytogenetics, FISH, and multicolor FISH analyses for detection of rare MLL-related chromosome abnormalities.

J. Choi, Juwon Kim, Kyung-A Lee, 2008, Cancer genetics and cytogenetics.

Hereditary protein S deficiency from a novel large deletion mutation of the PROS1 gene detected by multiplex ligation-dependent probe amplification (MLPA).

Hee-Jin Kim, Sun-Hee Kim, J. Choi, 2009, Thrombosis research.

Effects of Neutralization by Soluble ABH Antigens Produced by Transplanted Kidneys From ABO-Incompatible Secretor Donors

Jae Geun Lee, M. Kim, J. Choi, 2017, Annals of laboratory medicine.

Comparison study of the rates of manual peripheral blood smear review from 3 automated hematology analyzers, Unicel DxH 800, ADVIA 2120i, and XE 2100, using international consensus group guidelines.

Saeam Shin, Jong Rak Choi, Jaewoo Song, 2012, Archives of pathology & laboratory medicine.

Birt-Hogg-Dubé syndrome incidentally diagnosed during asthma management

Jae Hyun Lee, J. Choi, H. Park, 2015 .

A novel in-frame deletion in the factor V C1 domain associated with severe coagulation factor V deficiency in a Korean family

I. Guella, J. Choi, R. Asselta, 2009, Blood coagulation & fibrinolysis : an international journal in haemostasis and thrombosis.

Application of BRAF, NRAS, KRAS mutations as markers for the detection of papillary thyroid cancer from FNAB specimens by pyrosequencing analysis

J. Choi, J. Kwak, W. Chung, 2013, Clinical chemistry and laboratory medicine.

Impact of maternal engrafted cytomegalovirus‐specific CD8+ T cells in a patient with severe combined immunodeficiency

J. Choi, E. Shin, J. Koh, 2021, Clinical & translational immunology.

NOTCH2 missplicing can occur in relation to apoptosis.

J. Choi, Y. Min, Insik Hwang, 2015, Blood.

Report on the External Quality Assessment Scheme for Cytogenetics and Molecular Cytogenetics in Korea (2016–2017)

J. Choi, Myungshin Kim, Jieun Kim, 2018, Journal of Laboratory Medicine and Quality Assurance.

Adoptive immunotherapy for cytomegalovirus (CMV) disease in immunocompromised patients.

J. Choi, D. Stroncek, Hyun Ok Kim, 2004, Yonsei medical journal.

A Gly1609Arg missense mutation in the vWF gene in a Korean patient with von Willebrand disease type 2A.

Hee-Jin Kim, J. Choi, Kyung-A Lee, 2012, Annals of clinical and laboratory science.

Development and validation of sensitive BCR::ABL1 fusion gene quantitation using next-generation sequencing

J. Choi, Jieun Seo, Saeam Shin, 2023, Cancer Cell International.

Rare translocations involving chromosome band 8p11 in myeloid neoplasms.

J. Choi, Juwon Kim, Kyung-A Lee, 2008, Cancer genetics and cytogenetics.