Literature DB >> 32078429

Variant Frequency and Clinical Phenotype Call Into Question the Nature of Minor, Nonsyndromic Long-QT Syndrome-Susceptibility Gene-Disease Associations.

John R Giudicessi1, Ram K Rohatgi2, David J Tester3,4, Michael J Ackerman2,3,4.   

Abstract

Entities:  

Keywords:  genetics; genotype; long QT syndrome; penetrance; phenotype

Year:  2020        PMID： 32078429     DOI： 10.1161/CIRCULATIONAHA.119.043131

Source DB:  PubMed          Journal:  Circulation        ISSN： 0009-7322            Impact factor:   29.690


× No keyword cloud information.
  4 in total

Review 1.  How Functional Genomics Can Keep Pace With VUS Identification.

Authors:  Corey L Anderson; Saba Munawar; Louise Reilly; Timothy J Kamp; Craig T January; Brian P Delisle; Lee L Eckhardt
Journal:  Front Cardiovasc Med       Date:  2022-07-04

2.  Interpretation of Incidental Genetic Findings Localizing to Genes Associated With Cardiac Channelopathies and Cardiomyopathies.

Authors:  Jordan E Ezekian; Catherine Rehder; Priya S Kishnani; Andrew P Landstrom
Journal:  Circ Genom Precis Med       Date:  2021-08-13

3.  Mitochondrial cardiomyopathy and ventricular arrhythmias associated with biallelic variants in C1QBP.

Authors:  Gregory Webster; Meredith Reynolds; Nicoleta C Arva; Lisa M Dellefave-Castillo; Hilary S McElligott; Amber Kofman; Aleksandra Laboski; Defne Magnetta; Alfred L George; Elizabeth M McNally; Megan J Puckelwartz
Journal:  Am J Med Genet A       Date:  2021-05-18       Impact factor: 2.578

4.  Transethnic Genome-Wide Association Study Provides Insights in the Genetic Architecture and Heritability of Long QT Syndrome.

Authors:  Najim Lahrouchi; Rafik Tadros; Lia Crotti; Yuka Mizusawa; Pieter G Postema; Leander Beekman; Roddy Walsh; Kanae Hasegawa; Julien Barc; Marko Ernsting; Kari L Turkowski; Andrea Mazzanti; Britt M Beckmann; Keiko Shimamoto; Ulla-Britt Diamant; Yanushi D Wijeyeratne; Yu Kucho; Tomas Robyns; Taisuke Ishikawa; Elena Arbelo; Michael Christiansen; Annika Winbo; Reza Jabbari; Steven A Lubitz; Johannes Steinfurt; Boris Rudic; Bart Loeys; M Ben Shoemaker; Peter E Weeke; Ryan Pfeiffer; Brianna Davies; Antoine Andorin; Nynke Hofman; Federica Dagradi; Matteo Pedrazzini; David J Tester; J Martijn Bos; Georgia Sarquella-Brugada; Óscar Campuzano; Pyotr G Platonov; Birgit Stallmeyer; Sven Zumhagen; Eline A Nannenberg; Jan H Veldink; Leonard H van den Berg; Ammar Al-Chalabi; Christopher E Shaw; Pamela J Shaw; Karen E Morrison; Peter M Andersen; Martina Müller-Nurasyid; Daniele Cusi; Cristina Barlassina; Pilar Galan; Mark Lathrop; Markus Munter; Thomas Werge; Marta Ribasés; Tin Aung; Chiea C Khor; Mineo Ozaki; Peter Lichtner; Thomas Meitinger; J Peter van Tintelen; Yvonne Hoedemaekers; Isabelle Denjoy; Antoine Leenhardt; Carlo Napolitano; Wataru Shimizu; Jean-Jacques Schott; Jean-Baptiste Gourraud; Takeru Makiyama; Seiko Ohno; Hideki Itoh; Andrew D Krahn; Charles Antzelevitch; Dan M Roden; Johan Saenen; Martin Borggrefe; Katja E Odening; Patrick T Ellinor; Jacob Tfelt-Hansen; Jonathan R Skinner; Maarten P van den Berg; Morten Salling Olesen; Josep Brugada; Ramón Brugada; Naomasa Makita; Jeroen Breckpot; Masao Yoshinaga; Elijah R Behr; Annika Rydberg; Takeshi Aiba; Stefan Kääb; Silvia G Priori; Pascale Guicheney; Hanno L Tan; Christopher Newton-Cheh; Michael J Ackerman; Peter J Schwartz; Eric Schulze-Bahr; Vincent Probst; Minoru Horie; Arthur A Wilde; Michael W T Tanck; Connie R Bezzina
Journal:  Circulation       Date:  2020-05-20       Impact factor: 39.918
  4 in total

北京卡尤迪生物科技股份有限公司 © 2022-2023.