Changhee Ha
Overview
Explore the profile of Changhee Ha including associated specialties, affiliations and a list of published articles.
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Articles
16
Citations
36
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Recent Articles
1.
Kim Y, Kang H, Lee B, Jang H, Park J, Ha C, et al.
Commun Biol
. 2024 Nov;
7(1):1461.
PMID: 39511375
Despite its importance for regulating gene expression, nonsense-mediated mRNA decay (NMD) remains poorly understood. Here, we extend the findings of a previous landmark study that proposed several factors associated with...
2.
Kim Y, Lee B, Ha C, Lee C, Jung H, Sun J, et al.
Front Oncol
. 2024 Nov;
14:1463341.
PMID: 39507756
Introduction: Numerous studies have suggested high concordance between tissue and circulating tumor DNA (ctDNA) comprehensive genomic profiling (CGP) tests but only few of them focused on fusions. In addition, atypical...
3.
Park W, Chung S, Jung Y, Ha C, Kim J, Nam S, et al.
NPJ Precis Oncol
. 2024 Apr;
8(1):96.
PMID: 38689097
Triple-negative breast cancer (TNBC) patients are more likely to have BRCA1/2 mutations, with a prevalence rate of about 10-20%. Although several studies have analyzed the oncologic outcomes between BRCA1/2 carriers...
4.
Hwang N, Kim S, Kim Y, Ha C, Lee J, Choi B, et al.
Clin Genet
. 2024 Mar;
106(2):150-160.
PMID: 38515343
Krabbe disease (KD) is an autosomal recessive neurodegenerative disorder caused by deficiency of the galactocerebrosidase (GALC) due to variants in the GALC gene. Here, we provide the first and the...
5.
Ha C, Kim D, Bak M, Park J, Kim Y, Jang J, et al.
J Hum Genet
. 2024 Jan;
69(3-4):159-162.
PMID: 38212463
Missense mutations in the alpha-B crystallin gene (CRYAB) have been reported in desmin-related myopathies with or without cardiomyopathy and have also been reported in families with only a cataract phenotype....
6.
Ha C, Jang J, Kim Y, Kim J
Front Genet
. 2023 Oct;
14:1283611.
PMID: 37900184
RNA sequence analysis can be effectively used to identify aberrant splicing, and tumor suppressor genes are adequate targets considering their loss-of-function mechanisms. Sanger sequencing is the simplest method for RNA...
7.
Shin S, Lee J, Kim Y, Ha C, Park J, Kim J, et al.
Pediatr Neurol
. 2023 Sep;
149:44-52.
PMID: 37776660
Background: Neurodevelopmental disorders (NDDs) have diverse phenotypes. Their genetic diagnoses are often challenged by difficulties of targeting causative genes due to heterogeneous genetic etiologies. The objective of this study was...
8.
Kim Y, Kwon H, Park J, Nam S, Ha C, Shin S, et al.
Brain Commun
. 2023 May;
5(3):fcad139.
PMID: 37180992
Whole-genome sequencing is the most comprehensive form of next-generation sequencing method. We aimed to assess the additional diagnostic yield of whole-genome sequencing in patients with clinically diagnosed Charcot-Marie-Tooth disease when...
9.
Ha C, Kim S, Kim J, Joh J, Jang K, Choi G, et al.
Ann Transplant
. 2023 Feb;
28:e938287.
PMID: 36840341
BACKGROUND Graft-versus-host disease (GVHD) after liver transplantation (LT) is a rare but fatal complication. GVHD diagnosis is usually based on clinical symptoms and pathologic confirmation. However, it is often misdiagnosed...
10.
Kim Y, Ha C, Shin S, Park J, Jang J, Kim J
Front Genet
. 2023 Jan;
13:1087359.
PMID: 36685919
Titin truncating variants (TTNtvs) are the most common genetic cause of dilated cardiomyopathy (DCM). Among four regions of titin, A-band enrichment of DCM-causing TTNtvs is widely accepted but the underlying...