Searching journal content for Jesper Eisfeldt in author.

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  1. Research: Centromeric instability and chromoanasynthesis observed in nine supernumerary marker chromosomes resolved with long-read genome sequencing
    • Kristine Bilgrav Saether,
    • Angelo Salazar Mantero,
    • Marlene Ek,
    • Maria Pettersson,
    • Elisabeth Syk Lundberg,
    • Christopher M. Grochowski,
    • Claudia M.B. Carvalho,
    • Jesper Eisfeldt,
    • and Anna Lindstrand
    Genome Res. March 25, 2026 ; Published in Advance March 25, 2026, doi:10.1101/gr.281175.125
    OPEN ACCESS ARTICLE
  2. Research: Leveraging the T2T assembly to resolve rare and pathogenic inversions in reference genome gaps
    • Kristine Bilgrav Saether,
    • Jesper Eisfeldt,
    • Jesse D. Bengtsson,
    • Ming Yin Lun,
    • Christopher M. Grochowski,
    • Medhat Mahmoud,
    • Hsiao-Tuan Chao,
    • Jill A. Rosenfeld,
    • Pengfei Liu,
    • Marlene Ek,
    • Jakob Schuy,
    • Adam Ameur,
    • Hongzheng Dai,
    • Undiagnosed Diseases Network,
    • James Paul Hwang,
    • Fritz J. Sedlazeck,
    • Weimin Bi,
    • Ronit Marom,
    • Josephine Wincent,
    • Ann Nordgren,
    • Claudia M.B. Carvalho,
    • and Anna Lindstrand
    Genome Res. November 2024 34: 1785-1797; Published in Advance November 1, 2024, doi:10.1101/gr.279346.124
    OPEN ACCESS ARTICLE
  3. Research: Resolving complex duplication variants in autism spectrum disorder using long-read genome sequencing
    • Jesper Eisfeldt,
    • Edward J. Higginbotham,
    • Felix Lenner,
    • Jennifer Howe,
    • Bridget A. Fernandez,
    • Anna Lindstrand,
    • Stephen W. Scherer,
    • and Lars Feuk
    Genome Res. November 2024 34: 1763-1773; Published in Advance October 29, 2024, doi:10.1101/gr.279263.124
    OPEN ACCESS ARTICLE
  4. Research: A national long-read sequencing study on chromosomal rearrangements uncovers hidden complexities
    • Jesper Eisfeldt,
    • Adam Ameur,
    • Felix Lenner,
    • Esmee Ten Berk de Boer,
    • Marlene Ek,
    • Josephine Wincent,
    • Raquel Vaz,
    • Jesper Ottosson,
    • Tord Jonson,
    • Sofie Ivarsson,
    • Sofia Thunström,
    • Alexandra Topa,
    • Simon Stenberg,
    • Anna Rohlin,
    • Anna Sandestig,
    • Margareta Nordling,
    • Pia Palmebäck,
    • Magnus Burstedt,
    • Frida Nordin,
    • Eva-Lena Stattin,
    • Maria Sobol,
    • Panagiotis Baliakas,
    • Marie-Louise Bondeson,
    • Ida Höijer,
    • Kristine Bilgrav Saether,
    • Lovisa Lovmar,
    • Hans Ehrencrona,
    • Malin Melin,
    • Lars Feuk,
    • and Anna Lindstrand
    Genome Res. November 2024 34: 1774-1784; Published in Advance October 29, 2024, doi:10.1101/gr.279510.124
    OPEN ACCESS ARTICLE
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