Jonathan Klonowski
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Explore the profile of Jonathan Klonowski including associated specialties, affiliations and a list of published articles.
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4
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10
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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...