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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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Validation and optimization of the Ion Torrent S5 XL sequencer and Oncomine workflow for BRCA1 and BRCA2 genetic testing

Oncotarget, 2017-05, Vol.8 (21), p.34858-34866

2017

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Genetic Analysis and Clinical Characteristics of Hereditary Pheochromocytoma and Paraganglioma Syndrome in Korean Population

Endocrinology and Metabolism, 2020, 35(4), , pp.858-872

2020

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Evaluation of autoimmune liver disease antibodies in hepatitis patients

PloS one, 2024-08, Vol.19 (8), p.e0307285

2024

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Comparison of exon-level copy number variants in CytoScan XON assay and next-generation sequencing in clinical samples

Clinica chimica acta, 2024-06, Vol.560, p.119703-119703, Article 119703

2024

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Copy‐number analysis by base‐level normalization: An intuitive visualization tool for evaluating copy number variations

Clinical genetics, 2023-01, Vol.103 (1), p.35-44

2023

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Common genes and recurrent causative variants in 957 Asian patients with pediatric epilepsy

Epilepsia (Copenhagen), 2024-03, Vol.65 (3), p.766-778

2024

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Oxidative status in iron-deficiency anemia

Journal of clinical laboratory analysis, 2009, Vol.23 (5), p.319-323

2009

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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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Disparate treatment outcomes according to presence of pathogenic mutations in West syndrome

Epilepsia (Copenhagen), 2021-07, Vol.62 (7), p.1656-1664

2021

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Real-World Clinical Utility of Targeted RNA Sequencing in Leukemia Diagnosis and Management

Cancers, 2024-07, Vol.16 (13), p.2467

2024

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Development and validation of sensitive BCR::ABL1 fusion gene quantitation using next-generation sequencing

Cancer cell international, 2023-05, Vol.23 (1), p.106-106, Article 106

2023

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Real‐world data on prognostic value of measurable residual disease assessment by fragment analysis or next‐generation sequencing in multiple myeloma

British journal of haematology, 2022-08, Vol.198 (3), p.503-514

2022

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Enhancing mutation detection in multiple myeloma with an error-corrected ultra-sensitive NGS assay without plasma cell enrichment

Cancer cell international, 2024-08, Vol.24 (1), p.282-10, Article 282

2024

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SNP-based next-generation sequencing reveals low-level mixed chimerism after allogeneic hematopoietic stem cell transplantation

Annals of hematology, 2018-09, Vol.97 (9), p.1731-1734

2018

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NUP214 Rearrangements in Leukemia Patients: A Case Series From a Single Institution

Annals of Laboratory Medicine, 2024, 44(4), , pp.335-342

2024

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Genetic diagnosis of inborn errors of immunity using clinical exome sequencing

Frontiers in immunology, 2023-05, Vol.14, p.1178582-1178582

2023

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Applications of molecular barcode sequencing for the detection of low‐frequency variants in circulating tumour DNA from hepatocellular carcinoma

Liver international, 2022-10, Vol.42 (10), p.2317-2326

2022

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Chimerism Assay Using Single Nucleotide Polymorphisms Adjacent and in Linkage-Disequilibrium Enables Sensitive Disease Relapse Monitoring after Hematopoietic Stem-Cell Transplantation

Clinical chemistry (Baltimore, Md.), 2021-05, Vol.67 (5), p.781-787

2021

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Corrigendum: Genetic diagnosis of inborn errors of immunity using clinical exome sequencing

Frontiers in immunology, 2023-06, Vol.14, p.1235318-1235318

2023

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Comprehensive insights into AML relapse: genetic mutations, clonal evolution, and clinical outcomes

Cancer cell international, 2024-05, Vol.24 (1), p.174-174, Article 174

2024

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Cytogenetic testing by fluorescence in situ hybridization is improved by plasma cell sorting in multiple myeloma

Scientific reports, 2022-05, Vol.12 (1), p.8287-8287, Article 8287

2022

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Unraveling trajectories from aplastic anemia to hematologic malignancies: genetic and molecular insights

Frontiers in oncology, 2024-03, Vol.14, p.1365614-1365614

2024

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Clinical characteristics of KCNQ2 encephalopathy

Brain & development (Tokyo. 1979), 2021-02, Vol.43 (2), p.244-250

2021

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Liver international, 2022-10, Vol.42 (10), p.i-i

2022

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Targeted gene panel sequencing in early infantile onset developmental and epileptic encephalopathy

Validation and optimization of the Ion Torrent S5 XL sequencer and Oncomine workflow for BRCA1 and BRCA2 genetic testing

Genetic Analysis and Clinical Characteristics of Hereditary Pheochromocytoma and Paraganglioma Syndrome in Korean Population

Evaluation of autoimmune liver disease antibodies in hepatitis patients

Comparison of exon-level copy number variants in CytoScan XON assay and next-generation sequencing in clinical samples

Copy‐number analysis by base‐level normalization: An intuitive visualization tool for evaluating copy number variations

Common genes and recurrent causative variants in 957 Asian patients with pediatric epilepsy

Oxidative status in iron-deficiency anemia

Somatic mosaic truncating mutations of PPM1D in blood can result from expansion of a mutant clone under selective pressure of chemotherapy

Disparate treatment outcomes according to presence of pathogenic mutations in West syndrome

Real-World Clinical Utility of Targeted RNA Sequencing in Leukemia Diagnosis and Management

Development and validation of sensitive BCR::ABL1 fusion gene quantitation using next-generation sequencing

Real‐world data on prognostic value of measurable residual disease assessment by fragment analysis or next‐generation sequencing in multiple myeloma

Enhancing mutation detection in multiple myeloma with an error-corrected ultra-sensitive NGS assay without plasma cell enrichment

SNP-based next-generation sequencing reveals low-level mixed chimerism after allogeneic hematopoietic stem cell transplantation

NUP214 Rearrangements in Leukemia Patients: A Case Series From a Single Institution

Genetic diagnosis of inborn errors of immunity using clinical exome sequencing

Applications of molecular barcode sequencing for the detection of low‐frequency variants in circulating tumour DNA from hepatocellular carcinoma

Chimerism Assay Using Single Nucleotide Polymorphisms Adjacent and in Linkage-Disequilibrium Enables Sensitive Disease Relapse Monitoring after Hematopoietic Stem-Cell Transplantation

Corrigendum: Genetic diagnosis of inborn errors of immunity using clinical exome sequencing

Comprehensive insights into AML relapse: genetic mutations, clonal evolution, and clinical outcomes

Cytogenetic testing by fluorescence in situ hybridization is improved by plasma cell sorting in multiple myeloma

Unraveling trajectories from aplastic anemia to hematologic malignancies: genetic and molecular insights

Clinical characteristics of KCNQ2 encephalopathy

Issue Cover

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