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List of works by Kyung-A Lee

A Comparative Study for Detection of EGFR Mutations in Plasma Cell-Free DNA in Korean Clinical Diagnostic Laboratories.

scientific article published on 8 May 2018

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

scientific article published in July 2018

A case of late-onset Li-Fraumeni-like syndrome with unilateral breast cancer

scientific article published on 17 April 2013

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

scientific article published on 01 January 2011

A novel F11 mutation in a Korean pediatric patient with recurrent epistaxis ⬇️

scientific article published on June 1, 2013

A novel association between relaxin receptor polymorphism and hematopoietic stem cell yield after mobilization.

scientific article

A novel missense MSH2 gene mutation in a patient of a Korean family with hereditary nonpolyposis colorectal cancer.

scientific article

A novel synonymous mutation causing complete skipping of exon 16 in the SLC26A4 gene in a Korean family with hearing loss ⬇️

scientific article published on December 14, 2012

A novel three-way variant t(4;17;5)(p16;q23;q31) in a case of secondary plasma cell leukemia

scientific article published on 07 February 2012

ALK-positive anaplastic large cell lymphoma with TPM3-ALK translocation.

scientific article

Acute promyelocytic leukemia with trisomy 8 and del(9)(q22) after treatment of cervical cancer with concurrent chemoradiotherapy: a case report

scientific article published on 17 June 2011

An optimized BRCA1/2 next-generation sequencing for different clinical sample types

scientific article published on 06 August 2019

Analytical Performance of Multiplex Real-Time PCR for Six Sexually Transmitted Pathogens.

scientific article published on January 2015

Applying Functional Assay Evidence to Interpret Sequence Variants Identified in Hereditary Cancer Genes

scientific article published on 29 June 2022

Assessment of real-time PCR method for detection of EGFR mutation using both supernatant and cell pellet of malignant pleural effusion samples from non-small-cell lung cancer patients.

scientific article

Automated detection of malaria-associated pseudoeosinophilia and abnormal WBC scattergram by the Sysmex XE-2100 hematology analyzer: a clinical study with 1,801 patients and real-time quantitative PCR analysis in vivax malaria-endemic area.

scientific article

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

scientific article published in August 2008

Bone marrow hypoplasia, isochromosome 8q and deletion of chromosome 6q preceding B-cell lymphoma.

scientific article published on 25 September 2014

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

scientific article published on 4 June 2015

Burden of premature ventricular contractions beyond nonsustained ventricular tachycardia is related to the myocardial extracellular space expansion in patients with hypertrophic-cardiomyopathy

scientific article published on 20 August 2020

CD5-negative blastoid variant mantle cell lymphoma with complex CCND1/IGH and MYC aberrations.

scientific article published on 20 December 2011

Cerebellar vermis hypoplasia in CHARGE syndrome: clinical and molecular characterization of 18 unrelated Korean patients.

scientific article

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

scientific article published in November 2018

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

scientific article published on March 2017

Cys482Trp missense mutation in the coagulation factor XI gene (F11) in a Korean patient with factor XI deficiency

scientific article published on 19 June 2014

Detection of Anti-Extractable Nuclear Antigens in Patients with Systemic Rheumatic Disease via Fluorescence Enzyme Immunoassay and Its Clinical Utility

scientific article published on 01 January 2020

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

scholarly article by Yeeok Kang published in October 2018

Differential association of RANTES-403 and IL-1B-1464 polymorphisms on histological subtypes in male Korean patients with gastric cancer.

scientific article published on 11 December 2013

Distinct linkage disequilibrium (LD) runs of single nucleotide polymorphisms and microsatellite markers; implications for use of mixed marker haplotypes in LD-based mapping.

scientific article published on June 2007

Effectiveness of in silico tagSNP selection methods: virtual analysis of the genotypes of pharmacogenetic genes.

scientific article published in October 2007

Ethnic differences in gastric cancer genetic susceptibility: allele flips of interleukin gene

scientific article

Evaluation of three automated nucleic acid extraction systems for identification of respiratory viruses in clinical specimens by multiplex real-time PCR.

scientific article published on 28 April 2014

First Korean case of SATB2-associated 2q32-q33 microdeletion syndrome.

scientific article published on 12 February 2015

Genetic Spectrum of UGT1A1 in Korean Patients with Unconjugated Hyperbilirubinemia

scientific article published on 01 May 2020

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

scientific article published on 24 January 2009

Heterozygosities of 735 microsatellite markers and background linkage disequilibrium in the Korean population

scientific article published on 01 December 2006

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

scientific article

Increased frequencies of glutathione S-transferase(GSTM1 and GSTT1) gene deletions in Korean patients with acquired aplastic anemia ⬇️

scientific article published on December 1, 2001

Interaction of polymorphisms in the interleukin 1B-31 and general transcription factor 2A1 genes on the susceptibility to gastric cancer.

scientific article published in May 2007

Interleukin 10 polymorphisms differentially influence the risk of gastric cancer in East Asians and Caucasians.

scientific article published on 2 April 2010

Intrafamilial phenotypic variability in families with biallelic SLC26A4 mutations.

scientific article published on 13 December 2013

JAK2 V617F/C618R mutation in a patient with polycythemia vera: a case study and review of the literature.

scientific article published on February 2009

Multiplex Ligation-Dependent Probe Amplification in X-linked Recessive Muscular Dystrophy in Korean Subjects

scientific article published on May 2017

Non-syndromic hearing loss caused by the dominant cis mutation R75Q with the recessive mutation V37I of the GJB2 (Connexin 26) gene

scientific article published on 19 June 2015

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

scientific article published on July 2016

Novel in-frame deletion mutation in FLCN gene in a Korean family with recurrent primary spontaneous pneumothorax

scientific article published on 15 March 2012

PRSS1, SPINK1, CFTR, and CTRC Pathogenic Variants in Korean Patients With Idiopathic Pancreatitis

scientific article

Partial Gene Deletions of PMP22 Causing Hereditary Neuropathy with Liability to Pressure Palsies

scientific article published on 20 November 2014

Population-specific spectrum of the F11 mutations in Koreans: evidence for a founder effect.

scientific article published on 30 June 2011

Prevalence of sexually transmitted infections among healthy Korean women: implications of multiplex PCR pathogen detection on antibiotic therapy

scientific article published on 11 December 2013

Profiling cancer-associated genetic alterations and molecular classification of cancer in Korean gastric cancer patients.

scientific article published on 22 July 2017

Rare Korean Cases of Very-long-chain Acyl-CoA Dehydrogenase Deficiency with a Novel Recurrent Mutation

scientific article

Refractory anemia with ring sideroblasts associated with marked thrombocytosis harboring cytogenetic abnormality dup(2)(p15p22) treated with decitabine

scientific article published on 16 May 2012

Routine chromosomal microarray analysis is necessary in Korean patients with unexplained developmental delay/mental retardation/autism spectrum disorder.

scientific article published in September 2015

Selecting short length nucleic acids localized in exosomes improves plasma EGFR mutation detection in NSCLC patients

scientific article published on 01 October 2019

Three cases of manifesting female carriers in patients with Duchenne muscular dystrophy

scientific article

Three-way Philadelphia variant t(9;22;14)(q34;q11.2;p11) in chronic myeloid leukemia.

scientific article published in May 2009

Validation and optimization of the Ion Torrent S5 XL sequencer and Oncomine workflow for BRCA1 and BRCA2 genetic testing

scientific article published on 3 April 2017

[Evaluation of multiplex PCR assay using dual priming oligonucleotide system for detection mutation in the Duchenne muscular dystrophy gene].

scientific article

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