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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: seppala eh. PLoS One. 2021 Feb 3;16(2):e0245681. doi: 10.1371/journal.pone.0245681. eCollection 2021. PLoS One. 2021. PMID: 33534821 Free PMC article.
Diagnostic yield of genetic testing in a heterogeneous cohort of 1376 HCM patients.
Hathaway J, Heliö K, Saarinen I, Tallila J, Seppälä EH, Tuupanen S, Turpeinen H, Kangas-Kontio T, Schleit J, Tommiska J, Kytölä V, Valori M, Muona M, Sistonen J, Gentile M, Salmenperä P, Myllykangas S, Paananen J, Alastalo TP, Heliö T, Koskenvuo J. Hathaway J, et al. Among authors: seppala eh. BMC Cardiovasc Disord. 2021 Mar 5;21(1):126. doi: 10.1186/s12872-021-01927-5. BMC Cardiovasc Disord. 2021. PMID: 33673806 Free PMC article.
Heterozygous junctophilin-2 (JPH2) p.(Thr161Lys) is a monogenic cause for HCM with heart failure.
Vanninen SUM, Leivo K, Seppälä EH, Aalto-Setälä K, Pitkänen O, Suursalmi P, Annala AP, Anttila I, Alastalo TP, Myllykangas S, Heliö TM, Koskenvuo JW. Vanninen SUM, et al. Among authors: seppala eh. PLoS One. 2018 Sep 20;13(9):e0203422. doi: 10.1371/journal.pone.0203422. eCollection 2018. PLoS One. 2018. PMID: 30235249 Free PMC article. Clinical Trial.
A novel form of progressive retinal atrophy in Swedish vallhund dogs.
Cooper AE, Ahonen S, Rowlan JS, Duncan A, Seppälä EH, Vanhapelto P, Lohi H, Komáromy AM. Cooper AE, et al. Among authors: seppala eh. PLoS One. 2014 Sep 8;9(9):e106610. doi: 10.1371/journal.pone.0106610. eCollection 2014. PLoS One. 2014. PMID: 25198798 Free PMC article.
Scaling resolution of variant classification differences in ClinVar between 41 clinical laboratories through an outlier approach.
Harrison SM, Dolinksy JS, Chen W, Collins CD, Das S, Deignan JL, Garber KB, Garcia J, Jarinova O, Knight Johnson AE, Koskenvuo JW, Lee H, Mao R, Mar-Heyming R, McFaddin AS, Moyer K, Nagan N, Rentas S, Santani AB, Seppälä EH, Shirts BH, Tidwell T, Topper S, Vincent LM, Vinette K, Rehm HL; ClinGen Sequence Variant Inter-Laboratory Discrepancy Resolution Working Group. Harrison SM, et al. Among authors: seppala eh. Hum Mutat. 2018 Nov;39(11):1641-1649. doi: 10.1002/humu.23643. Hum Mutat. 2018. PMID: 30311378 Free PMC article.
Identification of a novel idiopathic epilepsy locus in Belgian Shepherd dogs.
Seppälä EH, Koskinen LL, Gulløv CH, Jokinen P, Karlskov-Mortensen P, Bergamasco L, Baranowska Körberg I, Cizinauskas S, Oberbauer AM, Berendt M, Fredholm M, Lohi H. Seppälä EH, et al. PLoS One. 2012;7(3):e33549. doi: 10.1371/journal.pone.0033549. Epub 2012 Mar 23. PLoS One. 2012. PMID: 22457775 Free PMC article.
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