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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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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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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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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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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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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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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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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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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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Identification of SUZ12 Haploinsufficiency due to a 1.4-Mb Deletion at 17q11.2 in a Child With Overgrowth and Intellectual Disability Syndrome

Annals of Laboratory Medicine, 2023, 43(3), , pp.319-322

2023

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A Rare Case of Essential Thrombocythemia with Coexisting JAK2 and MPL Driver Mutations

Journal of Korean Medical Science, 2020, 35(23), , pp.1-5

2020

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Distinctive Severe Ocular Abnormalities and Epilepsy Accompanied by a Novel ZEB2 Mutation in a Child with Mowat-Wilson Syndrome

Annals of child neurology, 2022-01, Vol.30 (1), p.31-34

2022

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Clinical, Mutational, and Transcriptomic Characteristics in Elderly Korean Individuals With Clonal Hematopoiesis Driver Mutations

Annals of Laboratory Medicine, 2023, 43(2), , pp.145-152

2023

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Rare Cases of PLOD1-Related Kyphoscoliotic Ehlers-Danlos Syndrome in a Korean Family Identified by Next Generation Sequencing

Journal of Korean Medical Science, 2020, 35(10), , pp.1-7

2020

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The First Case of Acute Myeloid Leukemia With a Novel Five-way Variant Translocation of RUNX1-RUNX1T1

Annals of Laboratory Medicine, 2023, 43(3), , pp.315-318

2023

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Low-level somatic JAK2 V617F mutation in myelodysplastic/myeloproliferative neoplasm with ring sideroblasts, and thrombocytosis with co-mutated SF3B1 and CALR

Blood Research, 2022, 57(3), , pp.239-241

2022

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Response to Biesecker

Genetics in medicine, 2016-04, Vol.18 (4), p.417-417

2016

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Erratum: Challenges and Considerations in Sequence Variant Interpretation for Mendelian Disorders

Annals of laboratory medicine, 2019-11, Vol.39 (6), p.606-606

2019

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A Novel Pathogenic Variant (c.592_599del) in PCDH19 in a Korean Family with Epilepsy

Annals of child neurology, 2019-12, Vol.27 (4), p.152-154

2019

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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

Recent insights regarding the molecular basis of myeloproliferative neoplasms

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

Challenges and Considerations in Sequence Variant Interpretation for Mendelian Disorders

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

WNT16 elevation induced cell senescence of osteoblasts in ankylosing spondylitis

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

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

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

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

Identification of SUZ12 Haploinsufficiency due to a 1.4-Mb Deletion at 17q11.2 in a Child With Overgrowth and Intellectual Disability Syndrome

A Rare Case of Essential Thrombocythemia with Coexisting JAK2 and MPL Driver Mutations

Distinctive Severe Ocular Abnormalities and Epilepsy Accompanied by a Novel ZEB2 Mutation in a Child with Mowat-Wilson Syndrome

Clinical, Mutational, and Transcriptomic Characteristics in Elderly Korean Individuals With Clonal Hematopoiesis Driver Mutations

Rare Cases of PLOD1-Related Kyphoscoliotic Ehlers-Danlos Syndrome in a Korean Family Identified by Next Generation Sequencing

The First Case of Acute Myeloid Leukemia With a Novel Five-way Variant Translocation of RUNX1-RUNX1T1

Low-level somatic JAK2 V617F mutation in myelodysplastic/myeloproliferative neoplasm with ring sideroblasts, and thrombocytosis with co-mutated SF3B1 and CALR

Response to Biesecker

Erratum: Challenges and Considerations in Sequence Variant Interpretation for Mendelian Disorders

A Novel Pathogenic Variant (c.592_599del) in PCDH19 in a Korean Family with Epilepsy

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