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Next-Generation Sequencing-Based Molecular Profiling Using Cell-Free DNA: A Valuable Tool for the Diagnostic and Prognostic Evaluation of Patients With Gastric Cancer

Annals of Laboratory Medicine, 2024, 44(2), , pp.119-121

Jang, Mi-Ae

2024

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Genomic technologies for detecting structural variations in hematologic malignancies

Blood Research, 2024, 59(1), , pp.1-1

Jang, Mi-Ae

2024

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WBC YOLO-ViT: 2 Way - 2 stage white blood cell detection and classification with a combination of YOLOv5 and vision transformer

Computers in biology and medicine, 2024-02, Vol.169, p.107875-107875, Article 107875

2024

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Mutations in DDX58, which Encodes RIG-I, Cause Atypical Singleton-Merten Syndrome

American journal of human genetics, 2015-02, Vol.96 (2), p.266-274

2015

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Recent insights regarding the molecular basis of myeloproliferative neoplasms

The Korean Journal of Internal Medicine, 2020, 35(1), , pp.1-11

2020

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Overcoming challenges associated with identifying FBN1 deep intronic variants through whole‐genome sequencing

Journal of clinical laboratory analysis, 2024-01, Vol.38 (1-2), p.e25009-n/a

2024

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Optimization of extraction-free protocols for SARS-CoV-2 detection using a commercial rRT-PCR assay

Scientific reports, 2023-11, Vol.13 (1), p.20364-20364, Article 20364

2023

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Challenges and Considerations in Sequence Variant Interpretation for Mendelian Disorders

Annals of Laboratory Medicine, 2019, 39(5), , pp.421-429

2019

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WNT16 elevation induced cell senescence of osteoblasts in ankylosing spondylitis

Arthritis research & therapy, 2021-12, Vol.23 (1), p.301-11, Article 301

2021

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Frequency and spectrum of actionable pathogenic secondary findings in 196 Korean exomes

Genetics in medicine, 2015-12, Vol.17 (12), p.1007-1011

2015

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Reporting Quality of Diagnostic Accuracy Studies in Laboratory Medicine: Adherence to Standards for Reporting of Diagnostic Accuracy Studies (STARD) 2015

Annals of Laboratory Medicine, 2020, 40(3), , pp.245-252

2020

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Distribution of nontuberculous mycobacteria by multigene sequence-based typing and clinical significance of isolated strains

Journal of clinical microbiology, 2014-04, Vol.52 (4), p.1207-1212

2014

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Frequency and significance of rare RNF213 variants in patients with adult moyamoya disease

PloS one, 2017-06, Vol.12 (6), p.e0179689-e0179689

2017

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Clinical Manifestations and Genetic Analysis of 5 Korean Choroideremia Patients Initially Diagnosed With Retinitis Pigmentosa

Journal of Korean Medical Science, 2022, 37(3), , pp.1-8

2022

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Performance evaluation of the SMG HHV-6 Q Real-Time PCR Kit for quantitative detection and differentiation of human herpesvirus 6A and 6B

Microbiology spectrum, 2024-04, Vol.12 (4), p.e0424923-e0424923

2024

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Rapid Targeted Genomic Testing: A Powerful Tool for Diagnostic Evaluation of Critically Ill Neonates and Infants With Suspected Genetic Diseases

Annals of laboratory medicine, 2023-05, Vol.43 (3), p.223-224

Jang, Mi-Ae

2023

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The First Korean Case of De Novo Proximal 4p Deletion Syndrome in a Child With Developmental Delay

Annals of Laboratory Medicine, 2020, 40(5), , pp.435-437

2020

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Diffusion-based Wasserstein generative adversarial network for blood cell image augmentation

Engineering applications of artificial intelligence, 2024-07, Vol.133, p.108221, Article 108221

2024

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Identification and characterization of NF1 splicing mutations in Korean patients with neurofibromatosis type 1

Journal of human genetics, 2016-08, Vol.61 (8), p.705-709

2016

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Gardnerella vaginalis in Recurrent Urinary Tract Infection Is Associated with Dysbiosis of the Bladder Microbiome

Journal of clinical medicine, 2022-04, Vol.11 (9), p.2295

2022

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

Journal of human genetics, 2013-05, Vol.58 (5), p.298-303

2013

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Dikkopf-1 promotes matrix mineralization of osteoblasts by regulating Ca + -CAMK2A- CREB1 pathway

BMB Reports, 2022-12, Vol.55 (12), p.627-632

2022

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Dikkopf-1 promotes matrix mineralization of osteoblasts by regulating Ca + -CAMK2A- CREB1 pathway

BMB reports, 2022-12, Vol.55 (12), p.627-632

2022

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Chronic lymphocytic leukemia in Korean patients: frequent atypical immunophenotype and relatively aggressive clinical behavior

International journal of hematology, 2013-03, Vol.97 (3), p.403-408

2013

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Enhancing the Reliability of PMP22 Copy Number Variation Detection with an Inherited Peripheral Neuropathy Panel

The Journal of molecular diagnostics : JMD, 2024-04, Vol.26 (4), p.304-309

2024

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Next-Generation Sequencing-Based Molecular Profiling Using Cell-Free DNA: A Valuable Tool for the Diagnostic and Prognostic Evaluation of Patients With Gastric Cancer

Genomic technologies for detecting structural variations in hematologic malignancies

WBC YOLO-ViT: 2 Way - 2 stage white blood cell detection and classification with a combination of YOLOv5 and vision transformer

Mutations in DDX58, which Encodes RIG-I, Cause Atypical Singleton-Merten Syndrome

Recent insights regarding the molecular basis of myeloproliferative neoplasms

Overcoming challenges associated with identifying FBN1 deep intronic variants through whole‐genome sequencing

Optimization of extraction-free protocols for SARS-CoV-2 detection using a commercial rRT-PCR assay

Challenges and Considerations in Sequence Variant Interpretation for Mendelian Disorders

WNT16 elevation induced cell senescence of osteoblasts in ankylosing spondylitis

Frequency and spectrum of actionable pathogenic secondary findings in 196 Korean exomes

Reporting Quality of Diagnostic Accuracy Studies in Laboratory Medicine: Adherence to Standards for Reporting of Diagnostic Accuracy Studies (STARD) 2015

Distribution of nontuberculous mycobacteria by multigene sequence-based typing and clinical significance of isolated strains

Frequency and significance of rare RNF213 variants in patients with adult moyamoya disease

Clinical Manifestations and Genetic Analysis of 5 Korean Choroideremia Patients Initially Diagnosed With Retinitis Pigmentosa

Performance evaluation of the SMG HHV-6 Q Real-Time PCR Kit for quantitative detection and differentiation of human herpesvirus 6A and 6B

Rapid Targeted Genomic Testing: A Powerful Tool for Diagnostic Evaluation of Critically Ill Neonates and Infants With Suspected Genetic Diseases

The First Korean Case of De Novo Proximal 4p Deletion Syndrome in a Child With Developmental Delay

Diffusion-based Wasserstein generative adversarial network for blood cell image augmentation

Identification and characterization of NF1 splicing mutations in Korean patients with neurofibromatosis type 1

Gardnerella vaginalis in Recurrent Urinary Tract Infection Is Associated with Dysbiosis of the Bladder Microbiome

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

Dikkopf-1 promotes matrix mineralization of osteoblasts by regulating Ca + -CAMK2A- CREB1 pathway

Dikkopf-1 promotes matrix mineralization of osteoblasts by regulating Ca + -CAMK2A- CREB1 pathway

Chronic lymphocytic leukemia in Korean patients: frequent atypical immunophenotype and relatively aggressive clinical behavior

Enhancing the Reliability of PMP22 Copy Number Variation Detection with an Inherited Peripheral Neuropathy Panel

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