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Jonathan Klonowski

Explore the profile of Jonathan Klonowski including associated specialties, affiliations and a list of published articles. Areas
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Recent Articles
1.
Rai A, Klonowski J, Yuan B, Coveler K, Dardas Z, Egab I, et al.
medRxiv . 2024 Nov; PMID: 39606420
Laterality defects are defined by perturbations in the usual left-right asymmetry of organs. Due to low known genetic etiology of congenital heart disease (CHD) cases (less than 40%), we used...
2.
Klonowski J, Liang Q, Coban-Akdemir Z, Lo C, Kostka D
Bioinformatics . 2023 Sep; 39(9). PMID: 37688563
Summary: DNA changes that cause premature termination codons (PTCs) represent a large fraction of clinically relevant pathogenic genomic variation. Typically, PTCs induce transcript degradation by nonsense-mediated mRNA decay (NMD) and...
3.
Klonowski J, Liang Q, Coban-Akdemir Z, Lo C, Kostka D
bioRxiv . 2023 Mar; PMID: 36993377
DNA changes that cause premature termination codons (PTCs) represent a large fraction of clinically relevant pathogenic genomic variation. Typically, PTCs induce a transcript's degradation by nonsense-mediated mRNA decay (NMD) and...
4.
Teekakirikul P, Zhu W, Gabriel G, Young C, Williams K, Martin L, et al.
HGG Adv . 2021 Dec; 2(3). PMID: 34888534
Bicuspid aortic valve (BAV) with ~1%-2% prevalence is the most common congenital heart defect (CHD). It frequently results in valve disease and aorta dilation and is a major cause of...