References
- Kelly M , SemsarianC. Multiple mutations in genetic cardiovascular disease. Circ. Cardiovasc. Genet., 2, 182–190 (2009).
- Wilde AAM , SemsarianC, MárquezMFet al. European Heart Rhythm Association (EHRA)/Heart Rhythm Society (HRS)/Asia Pacific Heart Rhythm Society (APHRS)/Latin American Heart Rhythm Society (LAHRS) expert consensus statement on the state of genetic testing for cardiac diseases. Heart Rhythm, 19, e1–e60 (2022).
- Vogiatzi G , LazarosG, OikonomouEet al. Role of genetic testing in cardiomyopathies: a primer for cardiologists. World. J. Cardiol., 14, 29–39 (2022).
- Devalla HD , GélinasR, AburawiEHet al. TECRL, a new life-threatening inherited arrhythmia gene associated with overlapping clinical features of both LQTS and CPVT. EMBO Mol. Med., 8, 1390–1408 (2016).
- Dellefave-Castillo LM , CirinoAL, CallisTEet al. Assessment of the diagnostic yield of combined cardiomyopathy and arrhythmia genetic testing. JAMA Cardiol., 7, 966–974 (2022).
- Reuter MS , ChaturvediRR, ListonEet al. The Cardiac Genome Clinic: implementing genome sequencing in pediatric heart disease. Genet. Med., 22, 1015–1024 (2020).
- Strande NT , RiggsER, BuchananAHet al. Evaluating the clinical validity of gene-disease associations: an evidence-based framework developed by the Clinical Genome Resource. Am. J. Hum. Genet., 100, 895–906 (2017).
- James CA , JongbloedJDH, HershbergerREet al. International evidence-based reappraisal of genes associated with arrhythmogenic right ventricular cardiomyopathy using the Clinical Genome Resource Framework. Circ. Genom. Precis. Med., 14, E003273 (2021).
- Hosseini SM , KimR, UdupaSet al. Reappraisal of reported genes for sudden arrhythmic death. Circulation, 138, 1195–1205 (2018).
- Walsh R , AdlerA, AminASet al. Evaluation of gene validity for CPVT and short QT syndrome in sudden arrhythmic death. Eur. Heart J., 43, 1500–1510 (2022).
- Jordan E , PetersonL, AiTet al. Evidence-based assessment of genes in dilated cardiomyopathy. Circulation, 144, 7–19 (2021).
- Ingles J , GoldsteinJ, ThaxtonCet al. Evaluating the clinical validity of hypertrophic cardiomyopathy genes. Circ. Genom. Precis. Med., 12, 57–64 (2019).
- Adler A , NovelliV, AminASet al. An international, multicentered, evidence-based reappraisal of genes reported to cause congenital long QT syndrome. Circulation, 141, 418–428 (2020).
- DiStefano MT , GeohringerS, BabbLet al. The Gene Curation Coalition: a global effort to harmonize gene-disease evidence resources. Genet. Med., 24, 1732–1734 (2022).
- Reuter MS , ChaturvediRR, ListonEet al. The Cardiac Genome Clinic: implementing genome sequencing in pediatric heart disease. Genet. Med., 22, 1015–1024 (2020).
- Reuter MS , WalkerS, ThiruvahindrapuramBet al. The personal genome project Canada: findings from whole genome sequences of the inaugural 56 participants. CMAJ, 190, E126–E136 (2018).
- Richards S , AzizN, BaleSet al. Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology. Genet. Med., 17, 405–424 (2015).
- Riggs ER , AndersenEF, CherryAMet al. Technical standards for the interpretation and reporting of constitutional copy-number variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics (ACMG) and the Clinical Genome Resource (ClinGen). Genet. Med., 22, 245–257 (2020).
- Manshaei R , MericoD, ReuterMSet al. Genes and pathways implicated in tetralogy of Fallot revealed by ultra-rare variant burden analysis in 231 genome sequences. Front. Genet., 11, 957 (2020).
- Thaxton C , GoldsteinJ, DiStefanoMet al. Lumping versus splitting: how to approach defining a disease to enable accurate genomic curation. Cell Genomics, 2, 100131 (2022).
- Cang C , ZhouY, NavarroBet al. mTOR regulates lysosomal ATP-sensitive two-pore Na(+) channels to adapt to metabolic state. Cell, 152, 778–790 (2013).
- Wang X , ZhangX, DongXPet al. TPC proteins are phosphoinositide-activated sodium-selective ion channels in endosomes and lysosomes. Cell, 151, 372–383 (2012).
- Cang C , BekeleB, RenD. The voltage-gated sodium channel TPC1 confers endolysosomal excitability. Nat. Chem. Biol., 10, 463–469 (2014).
- García-Rúa V , OteroMF, LearPVet al. Increased expression of fatty-acid and calcium metabolism genes in failing human heart. PLOS ONE, 7, e37505 (2012).
- Calcraft PJ , RuasM, PanZet al. NAADP mobilizes calcium from acidic organelles through two-pore channels. Nature, 459, 596–600 (2009).
- Niimura H , PattonKK, McKennaWJet al. Sarcomere protein gene mutations in hypertrophic cardiomyopathy of the elderly. Circulation, 105, 446–451 (2002).
- Castellana S , MastroiannoS, PalumboPet al. Sudden death in mild hypertrophic cardiomyopathy with compound DSG2/DSC2/MYH6 mutations: revisiting phenotype after genetic assessment in a master runner athlete. J. Electrocardiol., 53, 95–99 (2019).
- Liu W , WeiZ, ZhangYet al. Identification of three novel pathogenic mutations in sarcomere genes associated with familial hypertrophic cardiomyopathy based on multi-omics study. Clin. Chim. Acta, 520, 43–52 (2021).
- Schipper T , Van PouckeM, SonckLet al. A feline orthologue of the human MYH7 c.5647G>A (p.(Glu1883Lys)) variant causes hypertrophic cardiomyopathy in a Domestic Shorthair cat. Eur. J. Hum. Genet., 27, 1724–1730 (2019).
- Weiss A , SchiaffinoS, LeinwandLA. Comparative sequence analysis of the complete human sarcomeric myosin heavy chain family: implications for functional diversity. J. Mol. Biol., 290, 61–75 (1999).
- Gorza L , MercadierJJ, SchwartzK, ThornellLE, SartoreS, SchiaffinoS. Myosin types in the human heart. An immunofluorescence study of normal and hypertrophied atrial and ventricular myocardium. Circ. Res., 54, 694–702 (1984).
- Ntelios D , MeditskouS, EfthimiadisGet al. α-Myosin heavy chain (MYH6) in hypertrophic cardiomyopathy: prominent expression in areas with vacuolar degeneration of myocardial cells. Pathol. Int., 72, 308–310 (2022).
- Gacita AM , FullenkampDE, OhiriJet al. Genetic variation in enhancers modifies cardiomyopathy gene expression and progression. Circulation, 143, 1302–1316 (2021).
- Rubattu S , BozzaoC, PennacchiniEet al. A next-generation sequencing approach to identify gene mutations in early- and late-onset hypertrophic cardiomyopathy patients of an Italian cohort. Int. J. Mol. Sci., 17, (2016).
- Fagerberg L , HallströmBM, OksvoldPet al. Analysis of the human tissue-specific expression by genome-wide integration of transcriptomics and antibody-based proteomics. Mol. Cell Proteom., 13, 397–406 (2014).