Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation

Search Page

Filters

My NCBI Filters

Text availability

Article attribute

Article type

Publication date

Search Results

344 results

Filters applied: . Clear all
Results are displayed in a computed author sort order. The Results By Year timeline is not available.
Page 1
Unravelling undiagnosed rare disease cases by HiFi long-read genome sequencing.
Steyaert W, Sagath L, Demidov G, Yépez VA, Esteve-Codina A, Gagneur J, Ellwanger K, Derks R, Weiss M, den Ouden A, van den Heuvel S, Swinkels H, Zomer N, Steehouwer M, O'Gorman L, Astuti G, Neveling K, Schüle R, Xu J, Synofzik M, Beijer D, Hengel H, Schöls L, Claeys KG, Baets J, Van de Vondel L, Ferlini A, Selvatici R, Morsy H, Saeed Abd Elmaksoud M, Straub V, Müller J, Pini V, Perry L, Sarkozy A, Zaharieva I, Muntoni F, Bugiardini E, Polavarapu K, Horvath R, Reid E, Lochmüller H, Spinazzi M, Savarese M; Solve-RD DITF-ITHACA; Solve-RD DITF-Euro-NMD; Solve-RD DITF-RND; Solve-RD DITF-EpiCARE; Matalonga L, Laurie S, Brunner HG, Graessner H, Beltran S, Ossowski S, Vissers LELM, Gilissen C, Hoischen A. Steyaert W, et al. Among authors: sarkozy a. medRxiv [Preprint]. 2024 May 4:2024.05.03.24305331. doi: 10.1101/2024.05.03.24305331. medRxiv. 2024. PMID: 38746462 Free PMC article. Preprint.
Pre- and post-procedural cardiac imaging (computed tomography and magnetic resonance imaging) in electrophysiology: a clinical consensus statement of the European Heart Rhythm Association and European Association of Cardiovascular Imaging of the European Society of Cardiology.
Deneke T, Kutyifa V, Hindricks G, Sommer P, Zeppenfeld K, Carbuccichio C, Pürerfellner H, Heinzel FR, Traykov VB, De Riva M, Pontone G, Lehmkuhl L, Haugaa K, Sarkozy A, Gimelli A, Tondo C, Ernst S, Antz M, Westwood M. Deneke T, et al. Among authors: sarkozy a. Europace. 2024 May 2;26(5):euae108. doi: 10.1093/europace/euae108. Europace. 2024. PMID: 38743765 Free PMC article. Review.
Predicting and Recognizing Drug-Induced Type I Brugada Pattern Using ECG-Based Deep Learning.
Călburean PA, Pannone L, Monaco C, Rocca DD, Sorgente A, Almorad A, Bala G, Aglietti F, Ramak R, Overeinder I, Ströker E, Pappaert G, Măru'teri M, Harpa M, La Meir M, Brugada P, Sieira J, Sarkozy A, Chierchia GB, de Asmundis C. Călburean PA, et al. Among authors: sarkozy a. J Am Heart Assoc. 2024 May 21;13(10):e033148. doi: 10.1161/JAHA.123.033148. Epub 2024 May 10. J Am Heart Assoc. 2024. PMID: 38726893 Free article.
SCN5A gene variants and arrhythmic risk in Brugada syndrome: An updated systematic review and meta-analysis.
Doundoulakis I, Pannone L, Chiotis S, Della Rocca DG, Sorgente A, Tsioufis P, Del Monte A, Vetta G, Piperis C, Overeinder I, Bala G, Almorad A, Ströker E, Sieira J, La Meir M, Brugada P, Tsiachris D, Sarkozy A, Chierchia GB, de Asmundis C. Doundoulakis I, et al. Among authors: sarkozy a. Heart Rhythm. 2024 Apr 16:S1547-5271(24)02374-9. doi: 10.1016/j.hrthm.2024.04.047. Online ahead of print. Heart Rhythm. 2024. PMID: 38614189
Quantitative Foot Muscle Magnetic Resonance Imaging Reliably Measures Disease Progression in Children and Adolescents with Charcot-Marie-Tooth Disease Type 1A.
Doherty CM, Howard P, O'Donnell LF, Zuccarino R, Wastling S, Milev E, Banks T, Shah S, Zafeiropoulos N, Stephens KJ, Sarkozy A, Grider T, Feely SME, Manzur A, Shy RR, Skorupinska M, Pipis M, Nicolaisen E, McDowell A, Dilek N, Rossor AM, Laura M, Clark C, Muntoni F, Thedens D, Thornton J, Morrow JM, Shy ME, Reilly MM. Doherty CM, et al. Among authors: sarkozy a. Ann Neurol. 2024 Apr 13. doi: 10.1002/ana.26934. Online ahead of print. Ann Neurol. 2024. PMID: 38613459
344 results