Searching journal content for Alexander Hoischen in author.

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  1. Research: Unraveling undiagnosed rare disease cases by HiFi long-read genome sequencing
    • Wouter Steyaert,
    • Lydia Sagath,
    • German Demidov,
    • Vicente A. Yépez,
    • Anna Esteve-Codina,
    • Julien Gagneur,
    • Kornelia Ellwanger,
    • Ronny Derks,
    • Marjan Weiss,
    • Amber den Ouden,
    • Simone van den Heuvel,
    • Hilde Swinkels,
    • Nick Zomer,
    • Marloes Steehouwer,
    • Luke O'Gorman,
    • Galuh Astuti,
    • Kornelia Neveling,
    • Rebecca Schüle,
    • Jishu Xu,
    • Matthis Synofzik,
    • Danique Beijer,
    • Holger Hengel,
    • Ludger Schöls,
    • Kristl G. Claeys,
    • Jonathan Baets,
    • Liedewei Van de Vondel,
    • Alessandra Ferlini,
    • Rita Selvatici,
    • Heba Morsy,
    • Marwa Saeed Abd Elmaksoud,
    • Volker Straub,
    • Juliane Müller,
    • Veronica Pini,
    • Luke Perry,
    • Anna Sarkozy,
    • Irina Zaharieva,
    • Francesco Muntoni,
    • Enrico Bugiardini,
    • Kiran Polavarapu,
    • Rita Horvath,
    • Evan Reid,
    • Hanns Lochmüller,
    • Marco Spinazzi,
    • Marco Savarese,
    • Solve-RD DITF-ITHACA, Solve-RD DITF-Euro-NMD, Solve-RD DITF-RND, Solve-RD DITF-EpiCARE,
    • Leslie Matalonga,
    • Steven Laurie,
    • Han G. Brunner,
    • Holm Graessner,
    • Sergi Beltran,
    • Stephan Ossowski,
    • Lisenka E.L.M. Vissers,
    • Christian Gilissen,
    • Alexander Hoischen,
    • and on behalf of the Solve-RD consortium
    Genome Res. April 2025 35: 755-768; Published in Advance March 26, 2025, doi:10.1101/gr.279414.124
    OPEN ACCESS ARTICLE
  2. Research: Optical genome mapping enables accurate testing of large repeat expansions
    • Bart van der Sanden,
    • Kornelia Neveling,
    • Syukri Shukor,
    • Michael D. Gallagher,
    • Joyce Lee,
    • Stephanie L. Burke,
    • Maartje Pennings,
    • Ronald van Beek,
    • Michiel Oorsprong,
    • Ellen Kater-Baats,
    • Eveline Kamping,
    • Alide A. Tieleman,
    • Nicol C. Voermans,
    • Ingrid E. Scheffer,
    • Jozef Gecz,
    • Mark A. Corbett,
    • Lisenka E.L.M. Vissers,
    • Andy Wing Chun Pang,
    • Alex Hastie,
    • Erik-Jan Kamsteeg,
    • and Alexander Hoischen
    Genome Res. April 2025 35: 810-823; Published in Advance March 20, 2025, doi:10.1101/gr.279491.124
    OPEN ACCESS ARTICLE
  3. Research: Deciphering the largest disease-associated transcript isoforms in the human neural retina with advanced long-read sequencing approaches
    • Merel Stemerdink,
    • Tabea Riepe,
    • Nick Zomer,
    • Renee Salz,
    • Michael Kwint,
    • Jaap Oostrik,
    • Raoul Timmermans,
    • Barbara Ferrari,
    • Stefano Ferrari,
    • Alfredo Dueñas Rey,
    • Emma Delanote,
    • Suzanne E. de Bruijn,
    • Hannie Kremer,
    • Susanne Roosing,
    • Frauke Coppieters,
    • Alexander Hoischen,
    • Frans P.M. Cremers,
    • Peter A.C. ‘t Hoen,
    • Erwin van Wijk,
    • and Erik de Vrieze
    Genome Res. April 2025 35: 725-739; Published in Advance March 4, 2025, doi:10.1101/gr.280060.124
  4. Editorial: Long reads decipher genomes and transcriptomes and offer novel insights into biology and diseases
    • Ana Conesa,
    • Alexander Hoischen,
    • and Fritz J. Sedlazeck
    Genome Res. April 2025 35: xi-xiv; doi:10.1101/gr.280665.125
  5. Editorial: Revolutionizing genomics and medicine—one long molecule at a time
    • Ana Conesa,
    • Alexander Hoischen,
    • and Fritz J. Sedlazeck
    Genome Res. November 2024 34: ix-xi; doi:10.1101/gr.280179.124
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