Prevalence of cancer susceptibility variants in patients with multiple Lynch syndrome related cancers

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Functional Characteristics of Novel FGFR1 Mutations in Patients with Isolated Gonadotropin-Releasing Hormone Deficiency

Exp Clin Endocrinol Diabetes. 2021 Jun;129(6):457-463. doi: 10.1055/a-1151-4800. Epub 2020 Jun 2. 

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Clinical and Genetic Characteristics of Korean Congenital Stationary Night Blindness Patients

Genes (Basel). 2021 May 21;12(6):789. doi: 10.3390/genes12060789. 

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The Combination of Single-Cell and Next-Generation Sequencing Can Reveal Mosaicism for BRCA2 Mutations and the Fine Molecular Details of Tumorigenesis

Cancers (Basel). 2021 May 13;13(10):2354. doi: 10.3390/cancers13102354. 

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Genetic Confirmation and Identification of Novel Variants for Glanzmann Thrombasthenia and Other Inherited Platelet Function Disorders: A Study by the Korean Pediatric Hematology Oncology Group (KPHOG)

Genes (Basel). 2021 May 6;12(5):693. doi: 10.3390/genes12050693. 

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Metaphyseal Dysplasia Without Hypotrichosis Caused by RNA Component of Mitochondrial RNA-Processing Endoribonuclease (RMRP) Gene Variants: The First Case in Korea

Ann Lab Med. 2021 May 1;41(3):346-349. doi: 10.3343/alm.2021.41.3.346. 

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A Case of Acute Myeloid Leukemia With inv(16)(p13.1q22);CBFB-MYH11 Presenting With Faggot Cells

Ann Lab Med. 2021 May 1;41(3):333-335. doi: 10.3343/alm.2021.41.3.333. 

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Molecular Characterization of Biliary Tract Cancer Predicts Chemotherapy and PD‐1/PD‐L1 Blockade Responses

Hepatology. 2021 Apr 21. doi: 10.1002/hep.31862. 

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Targeted next-generation sequencing-based detection of microsatellite instability in colorectal carcinomas

PLoS One. 2021 Feb 1;16(2): e0246356. doi: 10.1371/journal.pone.0246356 

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Neutralization of Zika virus by E protein domain III-Specific human monoclonal antibody

Biochem Biophys Res Commun. 2021 Mar 19;545:33-39. doi: 10.1016/j.bbrc.2021.01.075. Epub 2021 Jan 31. 

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Genomic mutation profiling using liquid biopsy in Korean patients with prostate cancer: Circulating tumor DNA mutation predicts the development of castration resistance

Investig Clin Urol. 2021 Mar;62(2):224-232. doi: 10.4111/icu.20200406. 

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An Overview of Characteristics of Clinical Next-Generation Sequencing–Based Testing for Hematologic Malignancies

Arch Pathol Lab Med. 2021 Jan 15. doi: 10.5858/arpa.2019-0661-CP. 

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Genome Sequences of Two GH Clade SARS-CoV-2 Strains Isolated from Patients with COVID-19 in South Korea

Microbiol Resour Announc. 2021 Jan 7;10(1):e01384-20. doi: 10.1128/MRA.01384-20. 

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Genetic Evaluation of Congenital Hypothyroidism with Gland in situ Using Targeted Exome Sequencing

Ann Clin Lab Sci. 2021 Jan;51(1):73-81. 

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Genomic profiling of extracellular vesicle-derived DNA from bronchoalveolar lavage fluid of patients with lung adenocarcinoma

Transl Lung Cancer Res. 2021 Jan;10(1):104-116. doi: 10.21037/tlcr-20-888. 

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Development of the phenylpyrazolo [3, 4-d] pyrimidine-based, insulin-like growth factor receptor/Src/AXL-targeting small molecule kinase inhibitor

Theranostics. 2021 Jan 1;11(4):1918-1936. doi: 10.7150/thno.48865. eCollection 2021. 

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Ultradeep Sequencing Analysis of Paroxysmal Nocturnal Hemoglobinuria Clones Detected by Flow Cytometry: PIG Mutation in Small PNH Clones

Am J Clin Pathol. 2021 Jun 17;156(1):72-85. doi: 10.1093/ajcp/aqaa211. 

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Evidence of Long-Distance Droplet Transmission of SARS-CoV-2 by Direct Air Flow in a Restaurant in Korea

J Korean Med Sci. 2020 Nov 30;35(46):e415. doi: 10.3346/jkms.2020.35.e415. 

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Development and validation of a next-generation sequencing-based multigene assay to predict the prognosis of estrogen receptor-positive, HER2-negative breast cancer

Clin Cancer Res. 2020 Dec 15;26(24):6513-6522. doi: 10.1158/1078-0432.CCR-20-2107. Epub 2020 Oct 7. 

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Molecular Characteristics of Sequence Variants in GATA4 in Patients with 46, XY Disorders of Sex Development without Cardiac Defects

Sex Dev. 2019;13(5-6):240-245. doi: 10.1159/000511258. Epub 2020 Sep 26. 

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Phenotype-based single cell sequencing identifies diverse genetic subclones in CD133 positive cancer stem cells

Biochem Biophys Res Commun. 2021 Jun 18;558:209-215. doi: 10.1016/j.bbrc.2020.09.005. Epub 2020 Sep 19. 

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Detailed analysis of phenotypes and genotypes in megalencephaly-capillary malformation-polymicrogyria syndrome caused by somatic mosaicism of PIK3CA mutations

Orphanet J Rare Dis. 2020 Aug 10;15(1):205. doi: 10.1186/s13023-020-01480-y. 

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Genetic heterogeneity and prognostic impact of recurrent ANK2 and TP53 mutations in mantle cell lymphoma: a multi-centre cohort study

Sci Rep. 2020 Aug 7;10(1):13359. doi: 10.1038/s41598-020-70310-9. 

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Exon splicing analysis of intronic variants in multigene cancer panel testing for hereditary breast/ovarian cancer

Cancer Sci. 2020 Oct;111(10):3912-3925. doi: 10.1111/cas.14600. Epub 2020 Sep 2.

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Molecular Diagnosis of Craniosynostosis Using Targeted Next-Generation Sequencing

Neurosurgery. 2020 Aug 1;87(2):294-302. doi: 10.1093/neuros/nyz470.

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Incidental Severe Fatty Degeneration of the Erector Spinae in a Patient with L5–S1 Disc Extrusion Diagnosed with Limb-Girdle Muscular Dystrophy R2 Dysferin-Related

Diagnostics (Basel). 2020 Jul 29;10(8):530. doi: 10.3390/diagnostics10080530. 

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Anaplastic Thyroid Cancer Arising from Dyshormonogenetic Goiter: c.3070T>C and Novel c.7070T>C Mutation in the Thyroglobulin Gene

Thyroid. 2020 Nov;30(11):1676-1680. doi: 10.1089/thy.2020.0248. Epub 2020 Jul 6.

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Liquid biopsy-based tumor profiling for metastatic colorectal cancer patients with ultra-deep targeted sequencing

PLoS One. 2020 May 7;15(5):e0232754. doi: 10.1371/journal.pone.0232754. eCollection 2020. 

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Differential contributions of sarcomere and mitochondria-related multigene variants to the endophenotype of hypertrophic cardiomyopathy

Mitochondrion. 2020 Jul;53:48-56. doi: 10.1016/j.mito.2020.04.010. Epub 2020 May 4. 

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Single-cell analysis of a mutant library generated using CRISPR-guided deaminase in human melanoma cells

Commun Biol. 2020 Apr 2;3(1):154. doi: 10.1038/s42003-020-0888-2.

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A High-Throughput Single-Clone Phage Fluorescence Microwell Immunoassay and Laser-Driven Clonal Retrieval System

Biomolecules. 2020 Mar 29;10(4):517. doi: 10.3390/biom10040517.

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Detection of Germline Mutations in Breast Cancer Patients with Clinical Features of Hereditary Cancer Syndrome Using a Multi-Gene Panel Test

Cancer Res Treat. 2020 Jul;52(3):697-713. doi: 10.4143/crt.2019.559. Epub 2020 Feb 4. 

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Spontaneous mutations in the single TTN gene represent high tumor mutation burden

NPJ Genom Med. 2020 Jan 14;5:33. doi: 10.1038/s41525-019-0107-6. eCollection 2020.

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Implementation of a Targeted Next-Generation Sequencing Panel for Constitutional Newborn Screening in High-Risk Neonates

Yonsei Med J. 2019 Nov;60(11):1061-1066. doi: 10.3349/ymj.2019.60.11.1061. 

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Telomere length and its correlation with gene mutations in chronic lymphocytic leukemia in a Korean population

PLoS One. 2019 Jul 23;14(7):e0220177. doi: 10.1371/journal.pone.0220177. eCollection 2019. 

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Targeted sequencing aids in identifying clonality in chronic myelomonocytic leukemia

Leuk Res. 2019 Sep;84:106190. doi: 10.1016/j.leukres.2019.106190. Epub 2019 Jul 12. 

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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 Med Genomics. 2019 Jul 3;12(1):103. doi: 10.1186/s12920-019-0553-0. 

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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 Jun 26;14(6):e0217521. doi: 10.1371/journal.pone.0217521. eCollection 2019. 

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Clinical utility of targeted NGS panel with comprehensive bioinformatics analysis for patients with acute lymphoblastic leukemia

Leuk Lymphoma. 2019 Dec;60(13):3138-3145. doi: 10.1080/10428194.2019.1627538. Epub 2019 Jun 17. 

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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

Ann Lab Med. 2019 May;39(3):327-329. doi: 10.3343/alm.2019.39.3.327. 

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Impact of next‐generation sequencing panels in the evaluation of limb‐girdle muscular dystrophies

Ann Hum Genet. 2019 Sep;83(5):331-347. doi: 10.1111/ahg.12319. Epub 2019 May 7. 

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Cytogenetic evolution in myeloproliferative neoplasms with different molecular abnormalities

Blood Cells Mol Dis. 2019 Jul;77:120-128. doi: 10.1016/j.bcmd.2019.04.007. Epub 2019 Apr 13. 

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p53 expression status is associated with cancer-specific survival in stage III and high-risk stage II colorectal cancer patients treated with oxaliplatin-based adjuvant chemotherapy

Br J Cancer. 2019 Apr;120(8):797-805. doi: 10.1038/s41416-019-0429-2. Epub 2019 Mar 21.

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Targeted next generation sequencing can serve as an alternative to conventional tests in myeloid neoplasms

PLoS One. 2019 Mar 6;14(3):e0212228. doi: 10.1371/journal.pone.0212228. eCollection 2019. 

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Enzymatic construction of shRNA library from oligonucleotide library

Genes Genomics. 2019 May;41(5):573-581. doi: 10.1007/s13258-019-00800-2. Epub 2019 Mar 4. 

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High-throughput retrieval of physical DNA for NGS-identifiable clones in phage display library

MAbs. 2019 Apr;11(3):532-545. doi: 10.1080/19420862.2019.1571878. Epub 2019 Feb 12.

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Comparison of Clinical Features and Outcomes in Epithelial Ovarian Cancer according to Tumorigenicity in Patient-Derived Xenograft Models

Cancer Res Treat. 2018 Jul;50(3):956-963. doi: 10.4143/crt.2017.181. Epub 2017 Oct 17. 

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ASXL1 is a molecular predictor in idiopathic cytopenia of undetermined significance

Leuk Lymphoma. 2019 Mar;60(3):756-763. doi: 10.1080/10428194.2018.1492129. Epub 2018 Oct 10. 

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Urinary Exosomal and cell-free DNA Detects Somatic Mutation and Copy Number Alteration in Urothelial Carcinoma of Bladder

Sci Rep. 2018 Oct 2;8(1):14707. doi: 10.1038/s41598-018-32900-6. 

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Comprehensive Analysis of Germline Variants in Mexican Patients with Hereditary Breast and Ovarian Cancer Susceptibility

Cancers (Basel). 2018 Sep 27;10(10):361. doi: 10.3390/cancers10100361.

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Targeted Gene Panel Sequencing for Molecular Diagnosis of Kallmann Syndrome and Normosmic Idiopathic Hypogonadotropic Hypogonadism

Exp Clin Endocrinol Diabetes. 2019 Sep;127(8):538-544. doi: 10.1055/a-0681-6608. Epub 2018 Sep 14. 

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Evaluating Tumor Evolution via Genomic Profiling of Individual Tumor Spheroids in a Malignant Ascites

Sci Rep. 2018 Aug 24;8(1):12724. doi: 10.1038/s41598-018-31097-y. 

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Pyrosequencing-based quantitative measurement of CALR mutation allele burdens and their clinical implications in patients with myeloproliferative neoplasms

Clin Chim Acta. 2018 Aug;483:183-191. doi: 10.1016/j.cca.2018.05.001. Epub 2018 May 1. 

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Frequency of hereditary neuropathy with liability to pressure palsies (HNPP) due to 17p11.2 deletion in a Korean newborn population

Orphanet J Rare Dis. 2018 Mar 15;13(1):40. doi: 10.1186/s13023-018-0779-5. 

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Deep learning improves prediction of CRISPR-Cpf1 guide RNA activity

Nat Biotechnol. 2018 Mar;36(3):239-241. doi: 10.1038/nbt.4061. Epub 2018 Jan 29.

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Variants of cancer susceptibility genes in Korean BRCA1/2 mutation-negative patients with high risk for hereditary breast cancer

BMC Cancer. 2018 Jan 16;18(1):83. doi: 10.1186/s12885-017-3940-y. 

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Optimization of RNA Extraction from Formalin-Fixed Paraffin-Embedded Blocks for Targeted Next-Generation Sequencing

J Breast Cancer. 2017 Dec;20(4):393-399. doi: 10.4048/jbc.2017.20.4.393. Epub 2017 Dec 19. 

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Variants of Lipolysis-Related Genes in Korean Patients with Very High Triglycerides

Yonsei Med J. 2018 Jan;59(1):148-153. doi: 10.3349/ymj.2018.59.1.148. 

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Idiopathic hypereosinophilia is clonal disorder? Clonality identified by targeted sequencing

PLoS One. 2017 Oct 31;12(10):e0185602. doi: 10.1371/journal.pone.0185602. eCollection 2017. 

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Rare and common variants of APOB and PCSK9 in Korean patients with extremely low low-density lipoprotein-cholesterol levels

PLoS One. 2017 Oct 16;12(10):e0186446. doi: 10.1371/journal.pone.0186446. eCollection 2017. 

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Detection of Germline Mutations in Patients with Epithelial Ovarian Cancer Using Multi-gene Panels: Beyond BRCA1/2

Cancer Res Treat. 2018 Jul;50(3):917-925. doi: 10.4143/crt.2017.220. Epub 2017 Sep 27. 

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Telomere length and somatic mutations in correlation with response to immunosuppressive treatment in aplastic anaemia

Br J Haematol. 2017 Aug;178(4):603-615. doi: 10.1111/bjh.14691. Epub 2017 Jul 12.

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Asymmetrical barcode adapter-assisted recovery of duplicate reads and error correction strategy to detect rare mutations in circulating tumor DNA

Sci Rep. 2017 May 2;7:46678. doi: 10.1038/srep46678. 

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Genomic Profile of Chronic Lymphocytic Leukemia in Korea Identified by Targeted Sequencing

PLoS One. 2016 Dec 13;11(12):e0167641. doi: 10.1371/journal.pone.0167641. eCollection 2016 

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A coding variant in FTO confers susceptibility to thiopurine-induced leukopenia in East Asian patients with IBD

Gut. 2017 Nov;66(11):1926-1935. doi: 10.1136/gutjnl-2016-311921. Epub 2016 Aug 24. 

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Target sequencing and CRISPR/Cas editing reveal simultaneous loss of UTX and UTY in urothelial bladder cancer

Oncotarget. 2016 Sep 27;7(39):63252-63260. doi: 10.18632/oncotarget.11207. 

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Short telomere length and its correlation with gene mutations in myelodysplastic syndrome

J Hematol Oncol. 2016 Jul 28;9(1):62. doi: 10.1186/s13045-016-0287-9. 

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Clinical features of familial hypercholesterolemia in Korea: Predictors of pathogenic mutations and coronary artery disease–A study supported by the Korean Society of Lipidology and Atherosclerosis

Atherosclerosis. 2015 Nov;243(1):53-8. doi: 10.1016/j.atherosclerosis.2015.08.033. Epub 2015 Sep 5. 

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Cytogenetic heterogeneity and their serial dynamic changes during acquisition of cytogenetic aberrations in cultured mesenchymal stem cells

Mutat Res. 2015 Jul;777:60-8. doi: 10.1016/j.mrfmmm.2015.04.003. Epub 2015 Apr 18. 

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Targeted next-generation sequencing for the genetic diagnosis of dysferlinopathy

Neuromuscul Disord. 2015 Jun;25(6):502-10. doi: 10.1016/j.nmd.2015.03.006. Epub 2015 Mar 16. 

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Skeletal overgrowth syndrome caused by overexpression of C-type natriuretic peptide in a girl with balanced chromosomal translocation, t(1;2)(q41;q37.1)

Am J Med Genet A. 2015 May;167A(5):1033-8. doi: 10.1002/ajmg.a.36884. Epub 2015 Feb 27. 

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Tumor evolution and intratumor heterogeneity of an epithelial ovarian cancer investigated using next-generation sequencing

BMC Cancer. 2015 Feb 26;15:85. doi: 10.1186/s12885-015-1077-4. 

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