Dominik S Westphal
Overview
Explore the profile of Dominik S Westphal including associated specialties, affiliations and a list of published articles.
Author names and details appear as published. Due to indexing inconsistencies, multiple individuals may share a name, and a single author may have variations. MedLuna displays this data as publicly available, without modification or verification
Snapshot
Snapshot
Articles
30
Citations
256
Followers
0
Related Specialties
Related Specialties
Top 10 Co-Authors
Top 10 Co-Authors
Published In
Published In
Affiliations
Affiliations
Soon will be listed here.
Recent Articles
1.
Kurolap A, Chai Gadot C, Adiv O, Hershkovitz T, Avitan-Hersh E, Martin L, et al.
Ann Intern Med
. 2024 Dec;
178(1):39-49.
PMID: 39715557
Background: Yellow nail syndrome (YNS) is a rare disorder characterized by a triad of yellow dystrophic nails, lymphedema, and chronic lung disease. Most patients present in adulthood, with only a...
2.
Thalmann R, Obermeier V, Westphal D, Diebold I, Trenkwalder T, Pellegrini C, et al.
Clin Res Cardiol
. 2024 Dec;
PMID: 39652119
Background: Aortic stenosis (AS) induces cardiac remodeling upon chronic left ventricular (LV) pressure overload. Here, we analyzed the clinical outcome of patients undergoing transcatheter aortic valve replacement (TAVR) for symptomatic...
3.
Wenderholm K, Brunet T, Graf E, Arens M, Martens E, Winkelmann J, et al.
Gene
. 2024 Nov;
935:149063.
PMID: 39486665
Background: Exome sequencing has been established as a fundamental tool in genetic diagnostics. It may also provide information about variants in genes unrelated to the primary purpose, so-called secondary findings....
4.
Spielmann N, Miller G, Oprea T, Hsu C, Fobo G, Frishman G, et al.
Nat Cardiovasc Res
. 2024 Aug;
1(2):157-173.
PMID: 39195995
Clinical presentation of congenital heart disease is heterogeneous, making identification of the disease-causing genes and their genetic pathways and mechanisms of action challenging. By using in vivo electrocardiography, transthoracic echocardiography...
5.
Schmidt A, Danyel M, Grundmann K, Brunet T, Klinkhammer H, Hsieh T, et al.
Nat Genet
. 2024 Jul;
56(8):1644-1653.
PMID: 39039281
Individuals with ultrarare disorders pose a structural challenge for healthcare systems since expert clinical knowledge is required to establish diagnoses. In TRANSLATE NAMSE, a 3-year prospective study, we evaluated a...
6.
Sajan S, Gradisch R, Vogel F, Coffey A, Salyakina D, Soler D, et al.
Eur J Hum Genet
. 2024 Apr;
32(8):912-919.
PMID: 38565639
Nine out of 19 genes encoding GABA receptor subunits have been linked to monogenic syndromes characterized by seizures and developmental disorders. Previously, we reported the de novo variant p.(Thr300Ile) in...
7.
Thomson K, Jiang C, Richardson E, Westphal D, Burkard T, Wolf C, et al.
HGG Adv
. 2024 Jan;
5(2):100270.
PMID: 38219013
Long QT syndrome (LQTS), caused by the dysfunction of cardiac ion channels, increases the risk of sudden death in otherwise healthy young people. For many variants in LQTS genes, there...
8.
Boehm B, Gaa J, Hoppmann P, Martens E, Westphal D
Case Rep Cardiol
. 2023 Mar;
2023:6555998.
PMID: 36969731
. Atrial fibrillation (AF) is a common arrhythmia in elderly patients and is associated with increased risk of mortality. The pathogenesis of AF is complex and based on multiple genetic...
9.
Westphal D, Hauser M, Beckmann B, Wolf C, Hessling G, Oberhoffer-Fritz R, et al.
J Clin Med
. 2022 Dec;
11(23).
PMID: 36498454
Introduction: The standard obstetric definition of fetal bradycardia is a sustained fetal heart rate < 110 bpm over at least 10 min. Fetal bradycardia can be the first and only...
10.
Westphal D, Federle D, Steger A, Vodermeier T, Scheiper-Welling S, Jenewein T, et al.
Mamm Genome
. 2022 Dec;
34(2):323-330.
PMID: 36481846
Background: The number of cardiologically relevant genetic findings will continue to increase. This is due to the use of high-throughput sequencing techniques and the critical role of incidental findings in...