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Prevalence and clinical implications of germline predisposition gene mutations in patients with acute myeloid leukemia
Scientific reports, 2020-08, Vol.10 (1), p.14297-14297, Article 14297
2020
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Somatic mosaic truncating mutations of PPM1D in blood can result from expansion of a mutant clone under selective pressure of chemotherapy
PloS one, 2019-06, Vol.14 (6), p.e0217521-e0217521
2019
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Targeted gene panel sequencing in early infantile onset developmental and epileptic encephalopathy
Brain & development (Tokyo. 1979), 2020-06, Vol.42 (6), p.438-448
2020
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Targeted next generation sequencing can serve as an alternative to conventional tests in myeloid neoplasms
PloS one, 2019-03, Vol.14 (3), p.e0212228-e0212228
2019
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Next-generation sequencing with comprehensive bioinformatics analysis facilitates somatic mosaic APC gene mutation detection in patients with familial adenomatous polyposis
BMC medical genomics, 2019-07, Vol.12 (1), p.103-103, Article 103
2019
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Reanalysis of Genomic Sequencing Results in a Clinical Laboratory: Advantages and Limitations
Frontiers in neurology, 2020-06, Vol.11, p.612-612
2020
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Impact of maternal engrafted cytomegalovirus‐specific CD8+ T cells in a patient with severe combined immunodeficiency
Clinical & translational immunology, 2021, Vol.10 (4), p.e1272-n/a
2021
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Clinical Evaluation of Massively Parallel RNA Sequencing for Detecting Recurrent Gene Fusions in Hematologic Malignancies
The Journal of molecular diagnostics : JMD, 2019-01, Vol.21 (1), p.163-170
2019
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Whole exome sequencing identifies mutational signatures of vitreoretinal lymphoma
Haematologica (Roma), 2020-09, Vol.105 (9), p.e458
2020
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Comprehensive Sequencing Identifies High Frequency of Copy Number Changes in Korean Patients with Acute Lymphoblastic Leukemia
Blood, 2018-11, Vol.132 (Supplement 1), p.5166-5166
2018
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Genetic diagnosis and clinical characteristics by etiological classification in early-onset epileptic encephalopathy with burst suppression pattern
Epilepsy research, 2020-07, Vol.163, p.106323-106323, Article 106323
2020
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Proband-Only Clinical Exome Sequencing for Neurodevelopmental Disabilities
Pediatric neurology, 2019-10, Vol.99, p.47-54
2019
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Clinical utility of targeted NGS panel with comprehensive bioinformatics analysis for patients with acute lymphoblastic leukemia
Leukemia & lymphoma, 2019-11, Vol.60 (13), p.3138-3145
2019
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Genetic and clinical features of SCN8A developmental and epileptic encephalopathy
Epilepsy research, 2019-12, Vol.158, p.106222-106222, Article 106222
2019
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Clinical Implementation of Targeted Gene Sequencing for Malformation of Cortical Development
Pediatric neurology, 2020-02, Vol.103, p.27-34
2020
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Serial Detection of MYD88 L265P Mutation in the Aqueous Humor of a Patient with Vitreoretinal Lymphoma for Disease Monitoring
Ocular immunology and inflammation, 2021-04, Vol.29 (3), p.485-489
2021
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Corrigendum to ‘Targeted gene panel sequencing in early infantile onset developmental and epileptic encephalopathy’ [Brain Dev. 42(6) (2020) 438–448]
Brain & development (Tokyo. 1979), 2021-01, Vol.43 (1), p.179-179
2021
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The phenotype and treatment of SCN2A‐related developmental and epileptic encephalopathy
Epileptic disorders, 2020-10, Vol.22 (5), p.563-570
2020
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Detection of recurrent, rare, and novel gene fusions in patients with acute leukemia using next‐generation sequencing approaches
Hematological oncology, 2020-02, Vol.38 (1), p.82-88
2020
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FLT3 Internal Tandem Duplication in Patients With Acute Myeloid Leukemia Is Readily Detectable in a Single Next-Generation Sequencing Assay Using the Pindel Algorithm
Annals of Laboratory Medicine, 2019, 39(3), , pp.327-329
2019
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A patient with B-cell acute lymphoblastic leukemia with PAX5-ETV6 rearrangement with dic(9;12)(p13;p13) identified by chromosomal microarray
Annals of hematology, 2018-08, Vol.97 (8), p.1505-1507
2018
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Dried blood spot testing for seven steroids using liquid chromatography-tandem mass spectrometry with reference interval determination in the Korean population
Annals of Laboratory Medicine, 2015, 35(6), , pp.578-585
2015
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Bone marrow flow cytometry in staging of patients with B-cell non-Hodgkin lymphoma
Annals of Laboratory Medicine, 2015, 35(2), , pp.187-193
2015
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The first case of concurrent infective endocarditis and spondylitis caused by Streptococcus tigurinus
Annals of Laboratory Medicine, 2015, 35(6), , pp.654-656
2015
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Acute lymphoblastic leukemia with mature B-cell phenotype and t(9;11;11)(p22;q23;p11.2): a case study and literature review
Annals of Laboratory Medicine, 2014, 34(2), , pp.166-169
2014
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