Literature DB >> 32078431

Time to Rethink the Genetic Architecture of Long QT Syndrome.

Jodie Ingles1, Christopher Semsarian1.   

Abstract

Entities:  

Keywords:  Editorials; genetics; long QT syndrome; pathogenicity

Year:  2020        PMID： 32078431     DOI： 10.1161/CIRCULATIONAHA.119.044760

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


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  3 in total

1.  Common genetic variation associated with Mendelian disease severity revealed through cryptic phenotype analysis.

Authors:  David R Blair; Thomas J Hoffmann; Joseph T Shieh
Journal:  Nat Commun       Date:  2022-06-27       Impact factor: 17.694

Review 2.  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

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
  3 in total

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