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Page 1
Racial Disparities in Genetic Detection Rates for Inherited Retinal Diseases.
Abuzaitoun RO, Branham KH, Lacy GD, Hufnagel RB, Kumar MM, Koskenvuo JW, Tuupanen S, Durham T, Zhao PY, Abalem MF, Andrews CA, Schlegel D, Khan NW, Fahim AT, Heckenlively JR, Musch DC, Jayasundera KT. Abuzaitoun RO, et al. Among authors: koskenvuo jw. JAMA Ophthalmol. 2024 Nov 7;142(12):1150-6. doi: 10.1001/jamaophthalmol.2024.4696. Online ahead of print. JAMA Ophthalmol. 2024. PMID: 39509105
Diagnostic yield of genetic testing in a multinational heterogeneous cohort of 2088 DCM patients.
Heliö K, Cicerchia M, Hathaway J, Tommiska J, Huusko J, Saarinen I, Koskinen L, Muona M, Kytölä V, Djupsjöbacka J, Gentile M, Salmenperä P, Alastalo TP, Steinberg C, Heliö T, Paananen J, Myllykangas S, Koskenvuo J. Heliö K, et al. Front Cardiovasc Med. 2023 Sep 19;10:1254272. doi: 10.3389/fcvm.2023.1254272. eCollection 2023. Front Cardiovasc Med. 2023. PMID: 37795486 Free PMC article.
The Junctophilin-2 Mutation p.(Thr161Lys) Is Associated with Hypertrophic Cardiomyopathy Using Patient-Specific iPS Cardiomyocytes and Demonstrates Prolonged Action Potential and Increased Arrhythmogenicity.
Valtonen J, Prajapati C, Cherian RM, Vanninen S, Ojala M, Leivo K, Heliö T, Koskenvuo J, Aalto-Setälä K. Valtonen J, et al. Biomedicines. 2023 May 27;11(6):1558. doi: 10.3390/biomedicines11061558. Biomedicines. 2023. PMID: 37371654 Free PMC article.
A Systematic Analysis of the Clinical Outcome Associated with Multiple Reclassified Desmosomal Gene Variants in Arrhythmogenic Right Ventricular Cardiomyopathy Patients.
Nagyova E, Hoorntje ET, Te Rijdt WP, Bosman LP, Syrris P, Protonotarios A, Elliott PM, Tsatsopoulou A, Mestroni L, Taylor MRG, Sinagra G, Merlo M, Wada Y, Horie M, Mogensen J, Christensen AH, Gerull B, Song L, Yao Y, Fan S, Saguner AM, Duru F, Koskenvuo JW, Cruz Marino T, Tichnell C, Judge DP, Dooijes D, Lekanne Deprez RH, Basso C, Pilichou K, Bauce B, Wilde AAM, Charron P, Fressart V, van der Heijden JF, van den Berg MP, Asselbergs FW, James CA, Jongbloed JDH, Harakalova M, van Tintelen JP. Nagyova E, et al. Among authors: koskenvuo jw. J Cardiovasc Transl Res. 2023 Dec;16(6):1276-1286. doi: 10.1007/s12265-023-10403-8. Epub 2023 Jul 7. J Cardiovasc Transl Res. 2023. PMID: 37418234 Free PMC article.
DSP c.6310delA p.(Thr2104Glnfs*12) associates with arrhythmogenic cardiomyopathy, increased trabeculation, curly hair, and palmoplantar keratoderma.
Heliö K, Brandt E, Vaara S, Weckström S, Harjama L, Kandolin R, Järviö J, Hannula-Jouppi K, Heliö T, Holmström M, Koskenvuo JW. Heliö K, et al. Among authors: koskenvuo jw. Front Cardiovasc Med. 2023 Mar 15;10:1130903. doi: 10.3389/fcvm.2023.1130903. eCollection 2023. Front Cardiovasc Med. 2023. PMID: 37008330 Free PMC article.
A novel desmoplakin mutation causes dilated cardiomyopathy with palmoplantar keratoderma as an early clinical sign.
Karvonen V, Harjama L, Heliö K, Kettunen K, Elomaa O, Koskenvuo JW, Kere J, Weckström S, Holmström M, Saarela J, Ranki A, Heliö T, Hannula-Jouppi K. Karvonen V, et al. Among authors: koskenvuo jw. J Eur Acad Dermatol Venereol. 2022 Aug;36(8):1349-1358. doi: 10.1111/jdv.18164. Epub 2022 May 6. J Eur Acad Dermatol Venereol. 2022. PMID: 35445468 Free PMC article.
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. PLoS One. 2021 Feb 3;16(2):e0245681. doi: 10.1371/journal.pone.0245681. eCollection 2021. PLoS One. 2021. PMID: 33534821 Free PMC article.
62 results