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

Park S, Jeon BR, Lee YK, Ki CS, Jang MA

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

Jang MA, Seo MY, Choi KJ, Hong DS

Philadelphia-negative (Ph−) classical myeloproliferative neoplasms (MPNs) include polycythemia vera, essential thrombocythemia (ET), and primary myelofibrosis. Somatic driver mutations in the JAK2, CALR, and MPL genes serve as major diagnostic criteria...
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Reporting Quality of Diagnostic Accuracy Studies in Laboratory Medicine: Adherence to Standards for Reporting of Diagnostic Accuracy Studies (STARD) 2015

Jang MA, Kim B, Lee YK

BACKGROUND: Poor reporting quality in diagnostic accuracy studies hampers an adequate judgment of the validity of the study. The Standards for Reporting of Diagnostic Accuracy Studies (STARD) statement was published...
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Identification of MECP2 Duplication Using Low-Depth Whole-Genome Sequencing-Based Copy Number Variation Analysis

Jang MA, Park S, Park JE, Kim YE, Ki CS

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Korean Clinical Laboratory Accreditation Program Quality Standards for Laboratory Management: Identifying a Compliance Gap with World Health Organization Quality System Essentials

Jeon BR, Yoon C, Jang MA, Cho SR, Kim S, Lee YK

Background The Laboratory Medicine Foundation (LMF) checklists explain the accreditation requirements of the program and reflect quality standards like those of the Clinical Laboratory Standards Institute (CLSI) or quality system essentials...
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Rare Cases of PLOD1-Related Kyphoscoliotic Ehlers-Danlos Syndrome in a Korean Family Identified by Next Generation Sequencing

Shin YL, Park YN, Jang MA

Kyphoscoliotic Ehlers-Danlos syndrome (kEDS) is an autosomal recessive connective tissue disorder characterized by muscular hypotonia, hyperextensible skin, skin fragility, joint hypermobility, and progressive kyphoscoliosis. The disorder results from a deficiency...
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Recent insights regarding the molecular basis of myeloproliferative neoplasms

Jang MA, Choi CW

Myeloproliferative neoplasms (MPNs) are a heterogeneous group of clonal disorders characterized by the overproduction of mature blood cells that have an increased risk of thrombosis and progression to acute myeloid...
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Challenges and Considerations in Sequence Variant Interpretation for Mendelian Disorders

Kim YE, Ki CS, Jang MA

In 2015, the American College of Medical Genetics and Genomics (ACMG), together with the Association for Molecular Pathology (AMP), published the latest guidelines for the interpretation of sequence variants, which...
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Correspondence: Response to “Evaluating the Cumulative Impact of Ionizing Radiation Exposure With Diagnostic Genetics”

Jang MA, Han EA, Shin HB, Lee YK

No abstract available.
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A Novel Pathogenic Variant (c.592_599del) in PCDH19 in a Korean Family with Epilepsy

Park YN, Jang MA, Park S

No abstract available.
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Erratum: Challenges and Considerations in Sequence Variant Interpretation for Mendelian Disorders

Kim YE, Ki CS, Jang MA

This erratum is being published to revise the website address of the Korean Reference Genome Database (KRGDB) and correct two typographical errors in the article.
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A Novel Pathogenic RS1 Variant (c.362delA) in a Korean Patient With Late-onset X-linked Retinoschisis

Lee ES, Jang MA, Kim HD, Park JE, Kim JW, Ohn YH

No abstract available.
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Dose Estimation Curves Following In Vitro X-ray Irradiation Using Blood From Four Healthy Korean Individuals

Jang MA, Han EA, Lee JK, Cho KH, Shin HB, Lee YK

Cytogenetic dosimetry is useful for evaluating the absorbed dose of ionizing radiation based on analysis of radiation-induced chromosomal aberrations. We created two types of in vitro dose-response calibration curves for...
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Major Changes to the 2017 Revision of the World Health Organization Classification of Myeloproliferative Neoplasms

Jang MA

The World Health Organization (WHO) Classification of Tumors of Haematopoietic and Lymphoid Tissues was recently published in a revised fourth edition. The categories of myeloproliferative neoplasms (MPNs) have not significantly...
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Budget Impact of the Accreditation Program for Clinical Laboratories on Colorectal Cancer Screening via Fecal Immunochemical Testing: Results from the National Cancer Screening Program in Korea

Jun JK, Sung NY, Song SH, Hong S, Jang MA, Song J, Kim JH, Min WK, Lee YK

BACKGROUND: False-positive fecal immunochemical test (FIT) results in the National Cancer Screening Program (NCSP) for colorectal cancer may lead to unnecessary procedures, such as colonoscopies, increasing the medical costs. We...
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Clinical Utility of a Diagnostic Approach to Detect Genetic Abnormalities in Multiple Myeloma: A Single Institution Experience

Jung HA, Jang MA, Kim K, Kim SH

BACKGROUND: The identification of genetic abnormalities in patients with multiple myeloma (MM) has gained emphasis because genetics-based risk stratification significantly affects overall survival (OS). We investigated genetic abnormalities using conventional...
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Effect of the Standardization of Diagnostic Tests on the Prevalence of Diabetes Mellitus and Impaired Fasting Glucose

Lee B, Lee JS, Lee YW, Jang MA, Song J, Kim JH, Lee WG, Min WK, Lee J, Lee YK

BACKGROUND: Without standardization of medical laboratory's testing practices, there is an increase in false diagnoses when relying on test results. However, the effect of test standardization is difficult to assess...
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Effect of Accreditation on the Accuracy of Diagnostic Hematologic Tests: Standard Deviation Index Analysis

Yoon YA, Jang MA, Lee JS, Min WK, Kwon KC, Lee YW, Lee YK

No abstract available.
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Clinical impact of CD5 expression in Korean patients with diffuse large B-cell lymphoma

Kim HY, Jang MA, Kim HJ, Kim SJ, Kim WS, Kim SH

BACKGROUND: CD5-positive diffuse large B-cell lymphoma (CD5+ DLBCL) accounts for 5–10% of DLBCL cases and has poor patient outcomes. However, most studies on CD5+ DLBCL were performed in Japanese patients...
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A Novel De Novo Pathogenic Variant in FOXF1 in a Newborn with Alveolar Capillary Dysplasia with Misalignment of Pulmonary Veins

Ma Y, Jang MA, Yoo HS, Ahn SY, Sung SI, Chang YS, Ki CS, Park WS

Alveolar capillary dysplasia with misalignment of pulmonary veins (ACD/MPV) is an autosomal dominant, fatal developmental disorder of the lungs, with a mortality rate of about 100%. ACD/MPV is caused by...
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