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Targeted panel sequencing in pediatric primary cardiomyopathy supports a critical role of TNNI3.
Kühnisch J, Herbst C, Al-Wakeel-Marquard N, Dartsch J, Holtgrewe M, Baban A, Mearini G, Hardt J, Kolokotronis K, Gerull B, Carrier L, Beule D, Schubert S, Messroghli D, Degener F, Berger F, Klaassen S. Kühnisch J, et al. Among authors: gerull b. Clin Genet. 2019 Dec;96(6):549-559. doi: 10.1111/cge.13645. Epub 2019 Oct 22. Clin Genet. 2019. PMID: 31568572
Mutations in sarcomere protein genes in left ventricular noncompaction.
Klaassen S, Probst S, Oechslin E, Gerull B, Krings G, Schuler P, Greutmann M, Hürlimann D, Yegitbasi M, Pons L, Gramlich M, Drenckhahn JD, Heuser A, Berger F, Jenni R, Thierfelder L. Klaassen S, et al. Among authors: gerull b. Circulation. 2008 Jun 3;117(22):2893-901. doi: 10.1161/CIRCULATIONAHA.107.746164. Epub 2008 May 27. Circulation. 2008. PMID: 18506004
Utility of whole-exome sequencing for those near the end of the diagnostic odyssey: time to address gaps in care.
Sawyer SL, Hartley T, Dyment DA, Beaulieu CL, Schwartzentruber J, Smith A, Bedford HM, Bernard G, Bernier FP, Brais B, Bulman DE, Warman Chardon J, Chitayat D, Deladoëy J, Fernandez BA, Frosk P, Geraghty MT, Gerull B, Gibson W, Gow RM, Graham GE, Green JS, Heon E, Horvath G, Innes AM, Jabado N, Kim RH, Koenekoop RK, Khan A, Lehmann OJ, Mendoza-Londono R, Michaud JL, Nikkel SM, Penney LS, Polychronakos C, Richer J, Rouleau GA, Samuels ME, Siu VM, Suchowersky O, Tarnopolsky MA, Yoon G, Zahir FR; FORGE Canada Consortium; Care4Rare Canada Consortium; Majewski J, Boycott KM. Sawyer SL, et al. Among authors: gerull b. Clin Genet. 2016 Mar;89(3):275-84. doi: 10.1111/cge.12654. Epub 2015 Sep 22. Clin Genet. 2016. PMID: 26283276 Free PMC article. Review.
Mutations in ILK, encoding integrin-linked kinase, are associated with arrhythmogenic cardiomyopathy.
Brodehl A, Rezazadeh S, Williams T, Munsie NM, Liedtke D, Oh T, Ferrier R, Shen Y, Jones SJM, Stiegler AL, Boggon TJ, Duff HJ, Friedman JM, Gibson WT; FORGE Canada Consortium; Childs SJ, Gerull B. Brodehl A, et al. Among authors: gerull b. Transl Res. 2019 Jun;208:15-29. doi: 10.1016/j.trsl.2019.02.004. Epub 2019 Feb 15. Transl Res. 2019. PMID: 30802431 Free PMC article.
Mutant desmocollin-2 causes arrhythmogenic right ventricular cardiomyopathy.
Heuser A, Plovie ER, Ellinor PT, Grossmann KS, Shin JT, Wichter T, Basson CT, Lerman BB, Sasse-Klaassen S, Thierfelder L, MacRae CA, Gerull B. Heuser A, et al. Among authors: gerull b. Am J Hum Genet. 2006 Dec;79(6):1081-8. doi: 10.1086/509044. Epub 2006 Oct 3. Am J Hum Genet. 2006. PMID: 17186466 Free PMC article.
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