Found: 4

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  • The Role of Structural Variants in the Genetic Architecture of Parkinson's Disease.

    Published in:
    International Journal of Molecular Sciences, 2024, v. 25, n. 9, p. 4801, doi. 10.3390/ijms25094801
    By:
    • Miano-Burkhardt, Abigail;
    • Alvarez Jerez, Pilar;
    • Daida, Kensuke;
    • Bandres Ciga, Sara;
    • Billingsley, Kimberley J.
    Publication type:
    Article

  • Long‐Read Sequencing Resolves a Complex Structural Variant in PRKN Parkinson's Disease.

    Published in:
    Movement Disorders, 2023, v. 38, n. 12, p. 2249, doi. 10.1002/mds.29610
    By:
    • Daida, Kensuke;
    • Funayama, Manabu;
    • Billingsley, Kimberley J.;
    • Malik, Laksh;
    • Miano‐Burkhardt, Abigail;
    • Leonard, Hampton L.;
    • Makarious, Mary B.;
    • Iwaki, Hirotaka;
    • Ding, Jinhui;
    • Gibbs, J. Raphael;
    • Ishiguro, Mayu;
    • Yoshino, Hiroyo;
    • Ogaki, Kotaro;
    • Oyama, Genko;
    • Nishioka, Kenya;
    • Nonaka, Risa;
    • Akamatsu, Wado;
    • Blauwendraat, Cornelis;
    • Hattori, Nobutaka
    Publication type:
    Article

  • Characterizing a complex CT-rich haplotype in intron 4 of SNCA using large-scale targeted amplicon long-read sequencing.

    Published in:
    NPJ Parkinson's Disease, 2024, v. 10, n. 1, p. 1, doi. 10.1038/s41531-024-00749-4
    By:
    • Alvarez Jerez, Pilar;
    • Daida, Kensuke;
    • Grenn, Francis P.;
    • Malik, Laksh;
    • Miano-Burkhardt, Abigail;
    • Makarious, Mary B.;
    • Ding, Jinhui;
    • Gibbs, J. Raphael;
    • Moore, Anni;
    • Reed, Xylena;
    • Nalls, Mike A.;
    • Shah, Syed;
    • Mahmoud, Medhat;
    • Sedlazeck, Fritz J.;
    • Dolzhenko, Egor;
    • Park, Morgan;
    • Iwaki, Hirotaka;
    • Casey, Bradford;
    • Ryten, Mina;
    • Blauwendraat, Cornelis
    Publication type:
    Article

  • Profiling complex repeat expansions in RFC1 in Parkinson's disease.

    Published in:
    NPJ Parkinson's Disease, 2024, v. 10, n. 1, p. 1, doi. 10.1038/s41531-024-00723-0
    By:
    • Alvarez Jerez, Pilar;
    • Daida, Kensuke;
    • Miano-Burkhardt, Abigail;
    • Iwaki, Hirotaka;
    • Malik, Laksh;
    • Cogan, Guillaume;
    • Makarious, Mary B.;
    • Sullivan, Roisin;
    • Vandrovcova, Jana;
    • Ding, Jinhui;
    • Gibbs, J. Raphael;
    • Markham, Androo;
    • Nalls, Mike A.;
    • Kesharwani, Rupesh K.;
    • Sedlazeck, Fritz J.;
    • Casey, Bradford;
    • Hardy, John;
    • Houlden, Henry;
    • Blauwendraat, Cornelis;
    • Singleton, Andrew B.
    Publication type:
    Article