Works by Koskenvuo, Juha W.


Results: 25
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    Racial Disparities in Genetic Detection Rates for Inherited Retinal Diseases.

    Published in:
    JAMA Ophthalmology, 2024, v. 142, n. 12, p. 1150, doi. 10.1001/jamaophthalmol.2024.4696
    By:
    • Abuzaitoun, Rebhi O.;
    • Branham, Kari H.;
    • Lacy, Gabrielle D.;
    • Hufnagel, Robert B.;
    • Kumar, Meenakshi M.;
    • Koskenvuo, Juha W.;
    • Tuupanen, Sari;
    • Durham, Todd;
    • Zhao, Peter Y.;
    • Abalem, Maria Fernanda;
    • Andrews, Chris A.;
    • Schlegel, Dana;
    • Khan, Naheed W.;
    • Fahim, Abigail T.;
    • Heckenlively, John R.;
    • Musch, David C.;
    • Jayasundera, K. Thiran
    Publication type:
    Article
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    Cardiopulmonary involvement in Fabry's disease.

    Published in:
    Acta Cardiologica, 2010, v. 65, n. 2, p. 185, doi. 10.2143/AC.65.2.2047052
    By:
    • Koskenvuo, Juha W.;
    • Kantola, Ilkka M.;
    • Nuutila, Pirjo;
    • Knuuti, Juhani;
    • Parkkola, Riikka;
    • Mononen, Llkka;
    • Hurme, Saija;
    • Kalliokoski, Riikka;
    • Viikar, Jorma S.;
    • Wendelin-Saarenhovi, Maria;
    • Kiviniemi, Tuomas O.;
    • Hartiala, Jaakko J.
    Publication type:
    Article
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    ESC EORP Cardiomyopathy Registry: real‐life practice of genetic counselling and testing in adult cardiomyopathy patients.

    Published in:
    ESC Heart Failure, 2020, v. 7, n. 5, p. 3013, doi. 10.1002/ehf2.12925
    By:
    • Heliö, Tiina;
    • Elliott, Perry;
    • Koskenvuo, Juha W.;
    • Gimeno, Juan R.;
    • Tavazzi, Luigi;
    • Tendera, Michal;
    • Kaski, Juan Pablo;
    • Mansencal, Nicolas;
    • Bilińska, Zofia;
    • Carr‐White, Gerry;
    • Damy, Thibaud;
    • Frustaci, Andrea;
    • Kindermann, Ingrid;
    • Ripoll‐Vera, Tomas;
    • Čelutkienė, Jelena;
    • Axelsson, Anna;
    • Lorenzini, Massimiliano;
    • Saad, Aly;
    • Maggioni, Aldo P.;
    • Laroche, Cécile
    Publication type:
    Article
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    Biallelic loss-of-function in NRAP is a cause of recessive dilated cardiomyopathy.

    Published in:
    PLoS ONE, 2021, v. 16, n. 2, p. 1, doi. 10.1371/journal.pone.0245681
    By:
    • Koskenvuo, Juha W.;
    • Saarinen, Inka;
    • Ahonen, Saija;
    • Tommiska, Johanna;
    • Weckström, Sini;
    • Seppälä, Eija H.;
    • Tuupanen, Sari;
    • Kangas-Kontio, Tiia;
    • Schleit, Jennifer;
    • Heliö, Krista;
    • Hathaway, Julie;
    • Gummesson, Anders;
    • Dahlberg, Pia;
    • Ojala, Tiina H.;
    • Vepsäläinen, Ville;
    • Kytölä, Ville;
    • Muona, Mikko;
    • Sistonen, Johanna;
    • Salmenperä, Pertteli;
    • Gentile, Massimiliano
    Publication type:
    Article
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    Scaling resolution of variant classification differences in ClinVar between 41 clinical laboratories through an outlier approach.

    Published in:
    Human Mutation, 2018, v. 39, n. 11, p. 1641, doi. 10.1002/humu.23643
    By:
    • Harrison, Steven M.;
    • Dolinksy, Jill S.;
    • Chen, Wenjie;
    • Collins, Christin D.;
    • Das, Soma;
    • Deignan, Joshua L.;
    • Garber, Kathryn B.;
    • Garcia, John;
    • Jarinova, Olga;
    • Knight Johnson, Amy E.;
    • Koskenvuo, Juha W.;
    • Lee, Hane;
    • Mao, Rong;
    • Mar‐Heyming, Rebecca;
    • McFaddin, Andrew S.;
    • Moyer, Krista;
    • Nagan, Narasimhan;
    • Rentas, Stefan;
    • Santani, Avni B.;
    • Seppälä, Eija H.
    Publication type:
    Article
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