Detalhe da pesquisa
1.
Diagnostic algorithm for neonatal intrahepatic cholestasis integrating single-gene testing and next-generation sequencing in East Asia.
J Gastroenterol Hepatol
; 39(5): 964-974, 2024 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-38323732
2.
A nonsense TMEM43 variant leads to disruption of connexin-linked function and autosomal dominant auditory neuropathy spectrum disorder.
Proc Natl Acad Sci U S A
; 118(22)2021 06 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-34050020
3.
Utility of Next-Generation Sequencing-Based Chimerism Analysis for Early Relapse Prediction following Allogenic Hematopoietic Cell Transplantation.
Int J Mol Sci
; 25(5)2024 Feb 28.
Artigo
em Inglês
| MEDLINE | ID: mdl-38474058
4.
ITDetect: a method to detect internal tandem duplication of FMS-like tyrosine kinase (FLT3) from next-generation sequencing data with high sensitivity and clinical application.
BMC Bioinformatics
; 24(1): 62, 2023 Feb 23.
Artigo
em Inglês
| MEDLINE | ID: mdl-36823555
5.
Impact of Treatment on Long-Term Survival of Patients With Mycobacterium avium Complex Pulmonary Disease.
Clin Infect Dis
; 77(1): 120-126, 2023 07 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-36861203
6.
Prevalence and founder effect of DRC1 exon 1-4 deletion in Korean patients with primary ciliary dyskinesia.
J Hum Genet
; 68(6): 369-374, 2023 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-36747106
7.
Threshold of Quantitative Cytomegalovirus DNA PCR for Preemptive Treatment in Pediatric Hematopoietic Stem Cell Transplant Recipients.
J Pediatr Hematol Oncol
; 45(2): e200-e207, 2023 03 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-35482472
8.
Characteristics of germline mutations in Korean patients with pheochromocytoma/paraganglioma.
J Med Genet
; 59(1): 56-64, 2022 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-33219105
9.
Consistent count region-copy number variation (CCR-CNV): an expandable and robust tool for clinical diagnosis of copy number variation at the exon level using next-generation sequencing data.
Genet Med
; 24(3): 663-672, 2022 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-34906491
10.
Parallel Analysis of Pre- and Postoperative Circulating Tumor DNA and Matched Tumor Tissues in Resectable Pancreatic Ductal Adenocarcinoma: A Prospective Cohort Study.
Clin Chem
; 68(12): 1509-1518, 2022 12 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-36177751
11.
Intronic LINE-1 insertion in SLCO1B3 as a highly prevalent cause of rotor syndrome in East Asian population.
J Hum Genet
; 67(2): 71-77, 2022 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-34354231
12.
Longitudinal proteomic profiling provides insights into host response and proteome dynamics in COVID-19 progression.
Proteomics
; 21(11-12): e2000278, 2021 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-33945677
13.
Evidence of Severe Acute Respiratory Syndrome Coronavirus 2 Reinfection After Recovery from Mild Coronavirus Disease 2019.
Clin Infect Dis
; 73(9): e3002-e3008, 2021 11 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-33219681
14.
Importance of extracutaneous organ involvement in determining the clinical severity and prognosis of incontinentia pigmenti caused by mutations in the IKBKG gene.
Exp Dermatol
; 30(5): 676-683, 2021 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-33655605
15.
Sequential Analysis of Viral Load in a Neonate and Her Mother Infected With Severe Acute Respiratory Syndrome Coronavirus 2.
Clin Infect Dis
; 71(16): 2236-2239, 2020 11 19.
Artigo
em Inglês
| MEDLINE | ID: mdl-32297925
16.
Viral RNA Load in Mildly Symptomatic and Asymptomatic Children with COVID-19, Seoul, South Korea.
Emerg Infect Dis
; 26(10): 2497-2499, 2020 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-32497001
17.
Nationwide External Quality Assessment of SARS-CoV-2 Molecular Testing, South Korea.
Emerg Infect Dis
; 26(10): 2353-2360, 2020 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-32723432
18.
Replication-Based Rearrangements Are a Common Mechanism for SNCA Duplication in Parkinson's Disease.
Mov Disord
; 35(5): 868-876, 2020 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-32039503
19.
Plasma vs. serum in circulating tumor DNA measurement: characterization by DNA fragment sizing and digital droplet polymerase chain reaction.
Clin Chem Lab Med
; 58(4): 527-532, 2020 03 26.
Artigo
em Inglês
| MEDLINE | ID: mdl-31874093
20.
Mutation spectrum and biochemical features in infants with neonatal Dubin-Johnson syndrome.
BMC Pediatr
; 20(1): 369, 2020 08 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-32758197