Lista de obras -

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

artículo científico publicado en 2018

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

artículo científico publicado en 2017

An 18.3-Mb Duplication on Chromosome 14q With Multiple Cardiac Anomalies and Clubfoot Was Identified by Microarray Analysis.

artículo científico publicado en 2016

Analysis of mutations in the XPD gene in a patient with brittle hair

artículo científico publicado el 1 de enero de 2013

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

artículo científico publicado en 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.

artículo científico publicado en 2017

Chronic Myeloid Leukemia With Rare Variant b2a3 (e13a3) BCR-ABL1 Fusion.

artículo científico publicado en 2016

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

artículo científico publicado en 2017

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

artículo científico publicado en 2017

Diagnostic application of clinical exome sequencing in Leber congenital amaurosis

artículo científico publicado en 2017

Evaluation of an amplicon-based next-generation sequencing panel for detection of BRCA1 and BRCA2 genetic variants.

artículo científico publicado en 2016

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

artículo científico publicado en 2015

Frequency and Clinical Characteristics of Unselected Korean Gastric Cancer Patients with a Germline CDH1 V832M Mutation

artículo científico publicado en 2020

Hereditary Spastic Paraplegia with Axonal Sensorimotor Polyneuropathy in a Korean Family Caused by Pathogenic Variant of KIF5A (c.611G>A)

artículo científico publicado en 2020

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

artículo científico publicado en 2017

Isochromosome 1q in childhood Burkitt lymphoma: the first reported case in Korea.

artículo científico publicado en 2015

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

artículo científico publicado en 2015

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.

artículo científico publicado en 2016

NOTCH2 missplicing can occur in relation to apoptosis.

artículo científico publicado en 2015

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

artículo científico publicado en 2016

Report of the Korean Association of External Quality Assessment Service on Next-Generation Sequencing Analysis for Somatic Variants (2018–2020)

artículo científico publicado en 2021

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

artículo científico publicado en 2015

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

scientific article published on 01 October 2019

Usefulness of Flow Cytometric Analysis for Detecting Leptomeningeal Diseases in Non-Hodgkin Lymphoma

artículo científico publicado en 2016

Utility of Plasma Microbial Cell-Free DNA Whole-Genome Sequencing for Diagnosis of Invasive Aspergillosis in Patients With Hematologic Malignancy or COVID-19

scientific article published in 2023

Lista de obras de

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

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

An 18.3-Mb Duplication on Chromosome 14q With Multiple Cardiac Anomalies and Clubfoot Was Identified by Microarray Analysis.

Analysis of mutations in the XPD gene in a patient with brittle hair

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

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.

Chronic Myeloid Leukemia With Rare Variant b2a3 (e13a3) BCR-ABL1 Fusion.

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

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

Diagnostic application of clinical exome sequencing in Leber congenital amaurosis

Evaluation of an amplicon-based next-generation sequencing panel for detection of BRCA1 and BRCA2 genetic variants.

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

Frequency and Clinical Characteristics of Unselected Korean Gastric Cancer Patients with a Germline CDH1 V832M Mutation

Hereditary Spastic Paraplegia with Axonal Sensorimotor Polyneuropathy in a Korean Family Caused by Pathogenic Variant of KIF5A (c.611G>A)

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

Isochromosome 1q in childhood Burkitt lymphoma: the first reported case in Korea.

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

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.

NOTCH2 missplicing can occur in relation to apoptosis.

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

Report of the Korean Association of External Quality Assessment Service on Next-Generation Sequencing Analysis for Somatic Variants (2018–2020)

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

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

Usefulness of Flow Cytometric Analysis for Detecting Leptomeningeal Diseases in Non-Hodgkin Lymphoma

Utility of Plasma Microbial Cell-Free DNA Whole-Genome Sequencing for Diagnosis of Invasive Aspergillosis in Patients With Hematologic Malignancy or COVID-19