Search Results - "Kim, Borahm"

Prevalence and clinical implications of germline predisposition gene mutations in patients with acute myeloid leukemia by Kim, Borahm, Yun, Woobin, Lee, Seung-Tae, Choi, Jong Rok, Yoo, Keon Hee, Koo, Hong Hoe, Jung, Chul Won, Kim, Sun Hee

“…Acute myeloid leukemia (AML) is one of the most common types of leukemia. With the recent advances in sequencing technology and the growing body of knowledge…”
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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 by Kim, Borahm, Won, Dongju, Lee, Seung-Tae, Choi, Jong Rak

“…PPM1D (Protein phosphatase magnesium-dependent 1δ) is known as a damage response regulator, a part of the p53 negative feedback loop. Truncating mutations of…”
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Whole exome sequencing identifies mutational signatures of vitreoretinal lymphoma by Lee, Junwon, Kim, Borahm, Lee, Hyeonah, Park, Heejung, Byeon, Suk Ho, Choi, Jong Rak, Lee, Sung Chul, Lee, Seung-Tae, Lee, Christopher Seungkyu

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Targeted gene panel sequencing in early infantile onset developmental and epileptic encephalopathy by Na, Ji-Hoon, Shin, Saeam, Yang, Donghwa, Kim, Borahm, Kim, Heung Dong, Kim, Sehee, Lee, Joon-Soo, Choi, Jong-Rak, Lee, Seung-Tae, Kang, Hoon-Chul

“…Early-onset developmental and epileptic encephalopathy (DEE) is characterized by repeated seizures beginning within 3 months of birth and severe interictal…”
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Targeted next generation sequencing can serve as an alternative to conventional tests in myeloid neoplasms by Kim, Borahm, Lee, Hyeonah, Jang, Jieun, Kim, Soo-Jeong, Lee, Seung-Tae, Cheong, June-Won, Lyu, Chuhl Joo, Min, Yoo Hong, Choi, Jong Rak

“…The 2016 World Health Organization classification introduced a number of genes with somatic mutations and a category for germline predisposition syndromes in…”
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Next-generation sequencing with comprehensive bioinformatics analysis facilitates somatic mosaic APC gene mutation detection in patients with familial adenomatous polyposis by Kim, Borahm, Won, Dongju, Jang, Mi, Kim, Hoguen, Choi, Jong Rak, Kim, Tae Il, Lee, Seung-Tae

“…Familial adenomatous polyposis (FAP) is an autosomal dominant colorectal tumor characterized by numerous adenomatous colonic polyps that often lead to colon…”
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Reanalysis of Genomic Sequencing Results in a Clinical Laboratory: Advantages and Limitations by Won, Dongju, Kim, Se Hee, Kim, Borahm, Lee, Seung-Tae, Kang, Hoon-Chul, Choi, Jong Rak

“…Genetic diagnosis of patients with neurodevelopmental disorders is imperative and a standard clinical practice. Considering the continuous accumulation of data…”
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Impact of maternal engrafted cytomegalovirus‐specific CD8+ T cells in a patient with severe combined immunodeficiency by Koh, June‐Young, Lee, Sang‐Bo, Kim, Borahm, Park, Younhee, Choi, Jong Rak, Son, Sohee, Kim, Yae‐Jean, Hahn, Seung Min, Ahn, Jong Gyun, Kang, Ji‐Man, Shin, Eui‐Cheol

“…Objectives In patients with severe combined immunodeficiency (SCID), the immune system often fails to eradicate maternal cells that enter the foetus via the…”
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Clinical Evaluation of Massively Parallel RNA Sequencing for Detecting Recurrent Gene Fusions in Hematologic Malignancies by Kim, Borahm, Lee, Hyeonah, Shin, Saeam, Lee, Seung-Tae, Choi, Jong Rak

“…The application of next-generation sequencing (NGS) technology in clinical diagnostics should proceed with care. We have evaluated the clinical validity of two…”
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Whole exome sequencing identifies mutational signatures of vitreoretinal lymphoma by Lee, Junwon, Kim, Borahm, Lee, Hyeonah, Park, Heejung, Ho Byeon, Suk, Choi, Jong Rak, Lee, Sung Chul, Lee, Seung-Tae, Lee, Christopher Seungkyu

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Comprehensive Sequencing Identifies High Frequency of Copy Number Changes in Korean Patients with Acute Lymphoblastic Leukemia by Shin, Sang-Yong, Kim, Borahm, Lee, Seung-Tae, Choi, Jong Rak, Kim, Sun-Hee

“…Acute lymphoblastic leukemia (ALL) is a genetically complex and heterogeneous disease with a wide range of genetic variations thus identified. As genomic…”
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Genetic diagnosis and clinical characteristics by etiological classification in early-onset epileptic encephalopathy with burst suppression pattern by Lee, Sangbo, Kim, Se Hee, Kim, Borahm, Lee, Seung-Tae, Choi, Jong Rak, Kim, Heung Dong, Lee, Joon Soo, Kang, Hoon-Chul

“…•Precise etiological diagnosis of EOEE-BS may be helpful in identifying clinical features and prognosis.•Molecular etiology may comprise a significant…”
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Proband-Only Clinical Exome Sequencing for Neurodevelopmental Disabilities by Kim, Se Hee, Kim, Borahm, Lee, Joon Soo, Kim, Heung Dong, Choi, Jong Rak, Lee, Seung-Tae, Kang, Hoon-Chul

“…Whole exome sequencing on family trios gives the highest diagnostic yield, but high cost limits its application. Here, we performed proband-only clinical exome…”
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Clinical utility of targeted NGS panel with comprehensive bioinformatics analysis for patients with acute lymphoblastic leukemia by Kim, Borahm, Lee, Hyeonah, Kim, Esl, Shin, Saeam, Lee, Seung-Tae, Choi, Jong Rak

“…Acute lymphoblastic leukemia (ALL) is a genetically complex and heterogeneous disease for which a wide range of genetic variations has been identified. With…”
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Serial Detection of MYD88 L265P Mutation in the Aqueous Humor of a Patient with Vitreoretinal Lymphoma for Disease Monitoring by Choi, Seonghee, Shin, Saeam, Lee, Seung-Tae, Lee, Junwon, Lee, Jihei Sara, Kim, Borahm, Lee, Christopher Seungkyu

“…To report a case of a patient whose MYD88 mutation disappeared from the aqueous humor following treatment with intravitreal methotrexate. A retrospective…”
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Genetic and clinical features of SCN8A developmental and epileptic encephalopathy by Kim, Hyo Jeong, Yang, Donghwa, Kim, Se Hee, Kim, Borahm, Kim, Heung Dong, Lee, Joon Soo, Choi, Jong Rak, Lee, Seung-Tae, Kang, Hoon-Chul

“…•De novo missense mutations cause SCN8A encephalopathy.•Intractable seizures including spasms and focal seizures are present in 6/9(66.7%).•Sodium channel…”
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Clinical Implementation of Targeted Gene Sequencing for Malformation of Cortical Development by Lee, Sangbo, Kim, Se Hee, Kim, Borahm, Lee, Seung-Tae, Choi, Jong Rak, Kim, Heung Dong, Lee, Joon Soo, Kang, Hoon-Chul

“…Malformations of cortical development comprise phenotypically heterogeneous conditions, and the diagnostic value of genetic testing in blood still remains to…”
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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] by Na, Ji-Hoon, Shin, Saeam, Yang, Donghwa, Kim, Borahm, Dong Kim, Heung, Kim, Sehee, Lee, Joon-Soo, Choi, Jong-Rak, Lee, Seung-Tae, Kang, Hoon-Chul

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The phenotype and treatment of SCN2A‐related developmental and epileptic encephalopathy by Kim, Hyo Jeong, Yang, Donghwa, Kim, Se Hee, Kim, Borahm, Kim, Heung Dong, Lee, Joon Soo, Choi, Jong Rak, Lee, Seung‐Tae, Kang, Hoon‐Chul

“…Aims. We aimed to delineate the phenotypic spectrum of SCN2A‐related developmental and epileptic encephalopathy (DEE) and determine the effectiveness of…”
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Detection of recurrent, rare, and novel gene fusions in patients with acute leukemia using next‐generation sequencing approaches by Kim, Borahm, Kim, Esl, Lee, Seung‐Tae, Cheong, June‐Won, Lyu, Chuhl Joo, Min, Yoo Hong, Choi, Jong Rak

“…Identification of gene fusion is an essential part in the management of patients with acute leukemia, not only for diagnosis but also in predicting the…”
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