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Biallelic loss-of-function in NRAP is a cause of recessive dilated cardiomyopathy.
Koskenvuo JW, Saarinen I, Ahonen S, Tommiska J, Weckström S, Seppälä EH, Tuupanen S, Kangas-Kontio T, Schleit J, Heliö K, Hathaway J, Gummesson A, Dahlberg P, Ojala TH, Vepsäläinen V, Kytölä V, Muona M, Sistonen J, Salmenperä P, Gentile M, Paananen J, Myllykangas S, Alastalo TP, Heliö T. Koskenvuo JW, et al. Among authors: ojala th. PLoS One. 2021 Feb 3;16(2):e0245681. doi: 10.1371/journal.pone.0245681. eCollection 2021. PLoS One. 2021. PMID: 33534821 Free PMC article.
Exome sequencing identifies mitochondrial alanyl-tRNA synthetase mutations in infantile mitochondrial cardiomyopathy.
Götz A, Tyynismaa H, Euro L, Ellonen P, Hyötyläinen T, Ojala T, Hämäläinen RH, Tommiska J, Raivio T, Oresic M, Karikoski R, Tammela O, Simola KO, Paetau A, Tyni T, Suomalainen A. Götz A, et al. Am J Hum Genet. 2011 May 13;88(5):635-42. doi: 10.1016/j.ajhg.2011.04.006. Epub 2011 May 5. Am J Hum Genet. 2011. PMID: 21549344 Free PMC article.
Cardiovascular magnetic resonance findings in patients with PRKAG2 gene mutations.
Pöyhönen P, Hiippala A, Ollila L, Kaasalainen T, Hänninen H, Heliö T, Tallila J, Vasilescu C, Kivistö S, Ojala T, Holmström M. Pöyhönen P, et al. J Cardiovasc Magn Reson. 2015 Oct 24;17:89. doi: 10.1186/s12968-015-0192-3. J Cardiovasc Magn Reson. 2015. PMID: 26496977 Free PMC article.
Genetic Basis of Severe Childhood-Onset Cardiomyopathies.
Vasilescu C, Ojala TH, Brilhante V, Ojanen S, Hinterding HM, Palin E, Alastalo TP, Koskenvuo J, Hiippala A, Jokinen E, Jahnukainen T, Lohi J, Pihkala J, Tyni TA, Carroll CJ, Suomalainen A. Vasilescu C, et al. Among authors: ojala th. J Am Coll Cardiol. 2018 Nov 6;72(19):2324-2338. doi: 10.1016/j.jacc.2018.08.2171. J Am Coll Cardiol. 2018. PMID: 30384889 Free article.
Recessive TMOD1 mutation causes childhood cardiomyopathy.
Vasilescu C, Colpan M, Ojala TH, Manninen T, Mutka A, Ylänen K, Rahkonen O, Poutanen T, Martelius L, Kumari R, Hinterding H, Brilhante V, Ojanen S, Lappalainen P, Koskenvuo J, Carroll CJ, Fowler VM, Gregorio CC, Suomalainen A. Vasilescu C, et al. Among authors: ojala th. Commun Biol. 2024 Jan 2;7(1):7. doi: 10.1038/s42003-023-05670-9. Commun Biol. 2024. PMID: 38168645 Free PMC article.
Loss of function, missense, and intronic variants in NOTCH1 confer different risks for left ventricular outflow tract obstructive heart defects in two European cohorts.
Helle E, Córdova-Palomera A, Ojala T, Saha P, Potiny P, Gustafsson S, Ingelsson E, Bamshad M, Nickerson D, Chong JX; University of Washington Center for Mendelian Genomics; Ashley E, Priest JR. Helle E, et al. Genet Epidemiol. 2019 Mar;43(2):215-226. doi: 10.1002/gepi.22176. Epub 2018 Dec 4. Genet Epidemiol. 2019. PMID: 30511478 Free PMC article.
External validation of the HCM Risk-Kids model for predicting sudden cardiac death in childhood hypertrophic cardiomyopathy.
Norrish G, Qu C, Field E, Cervi E, Khraiche D, Klaassen S, Ojala TH, Sinagra G, Yamazawa H, Marrone C, Popoiu A, Centeno F, Schouvey S, Olivotto I, Day SM, Colan S, Rossano J, Wittekind SG, Saberi S, Russell M, Helms A, Ingles J, Semsarian C, Elliott PM, Ho CY, Omar RZ, Kaski JP. Norrish G, et al. Among authors: ojala th. Eur J Prev Cardiol. 2022 Mar 30;29(4):678-686. doi: 10.1093/eurjpc/zwab181. Eur J Prev Cardiol. 2022. PMID: 34718528 Free PMC article.
72 results