Steven R DePalma
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Explore the profile of Steven R DePalma including associated specialties, affiliations and a list of published articles.
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42
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3048
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Recent Articles
1.
Ward T, Morton S, Venturini G, Tai W, Jang M, Gorham J, et al.
J Am Heart Assoc
. 2025 Mar;
14(5):e036860.
PMID: 40028843
Background: SMAD2 is a coregulator that binds a variety of transcription factors in human development. Heterozygous loss-of-function and missense variants are identified in patients with congenital heart disease (CHD) or...
2.
Mondragon-Estrada E, Newburger J, DePalma S, Brueckner M, Cleveland J, Chung W, et al.
iScience
. 2025 Jan;
28(2):111707.
PMID: 39877905
Neurodevelopmental impairments associated with congenital heart disease (CHD) may arise from perturbations in brain developmental pathways, including the formation of sulcal patterns. While genetic factors contribute to sulcal features, the...
3.
McKean D, Zhang Q, Narayan P, Morton S, Strohmenger V, Tang V, et al.
J Clin Invest
. 2024 Jun;
134(11.
PMID: 38828726
Trisomy 21 (T21), a recurrent aneuploidy occurring in 1:800 births, predisposes to congenital heart disease (CHD) and multiple extracardiac phenotypes. Despite a definitive genetic etiology, the mechanisms by which T21...
4.
Kim Y, Gunnarsdottir O, Viveiros A, Reichart D, Quiat D, Willcox J, et al.
Circ Genom Precis Med
. 2023 Sep;
16(5):452-461.
PMID: 37767697
Background: Many cardiovascular disorders propel the development of advanced heart failure that necessitates cardiac transplantation. When treatable causes are excluded, studies to define causes are often abandoned, resulting in a...
5.
Jang M, Patel P, Pereira A, Willcox J, Haghighi A, Tai A, et al.
Circ Genom Precis Med
. 2023 May;
16(3):224-231.
PMID: 37165897
Background: Known genetic causes of congenital heart disease (CHD) explain <40% of CHD cases, and interpreting the clinical significance of variants with uncertain functional impact remains challenging. We aim to...
6.
Agarwal R, Wakimoto H, Paulo J, Zhang Q, Reichart D, Toepfer C, et al.
Circulation
. 2022 Nov;
146(22):1674-1693.
PMID: 36321451
Background: encodes α-kinase 3, a muscle-specific protein of unknown function. loss-of-function variants cause cardiomyopathy with distinctive clinical manifestations in both children and adults, but the molecular functions of ALPK3 remain...
7.
Quiat D, Timberlake A, Curran J, Cunningham M, McDonough B, Artunduaga M, et al.
Genet Med
. 2022 Oct;
25(1):143-150.
PMID: 36260083
Purpose: Craniofacial microsomia (CFM) represents a spectrum of craniofacial malformations, ranging from isolated microtia with or without aural atresia to underdevelopment of the mandible, maxilla, orbit, facial soft tissue, and/or...
8.
Quiat D, Kim S, Zhang Q, Morton S, Pereira A, DePalma S, et al.
Proc Natl Acad Sci U S A
. 2022 May;
119(21):e2203928119.
PMID: 35584116
Microtia is a congenital malformation that encompasses mild hypoplasia to complete loss of the external ear, or pinna. Although the contribution of genetic variation and environmental factors to microtia remains...
9.
Patel P, Ito K, Willcox J, Haghighi A, Jang M, Gorham J, et al.
Circ Genom Precis Med
. 2021 Aug;
14(5):e003389.
PMID: 34461741
Background: Heterozygous truncating variants cause 10% to 20% of idiopathic dilated cardiomyopathy (DCM). Although variants which disrupt canonical splice signals (ie, invariant dinucleotide of the splice donor site, invariant dinucleotide...
10.
Agarwal R, Paulo J, Toepfer C, Ewoldt J, Sundaram S, Chopra A, et al.
Circ Res
. 2021 Aug;
129(7):751-766.
PMID: 34405687
[Figure: see text].