Found: 5

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  • Critical assessment of variant prioritization methods for rare disease diagnosis within the rare genomes project.

    Published in:
    Human Genomics, 2024, v. 18, n. 1, p. 1, doi. 10.1186/s40246-024-00604-w
    By:
    • Stenton, Sarah L.;
    • O'Leary, Melanie C.;
    • Lemire, Gabrielle;
    • VanNoy, Grace E.;
    • DiTroia, Stephanie;
    • Ganesh, Vijay S.;
    • Groopman, Emily;
    • O'Heir, Emily;
    • Mangilog, Brian;
    • Osei-Owusu, Ikeoluwa;
    • Pais, Lynn S.;
    • Serrano, Jillian;
    • Singer-Berk, Moriel;
    • Weisburd, Ben;
    • Wilson, Michael W.;
    • Austin-Tse, Christina;
    • Abdelhakim, Marwa;
    • Althagafi, Azza;
    • Babbi, Giulia;
    • Bellazzi, Riccardo
    Publication type:
    Article

  • Variants in Mitochondrial ATP Synthase Cause Variable Neurologic Phenotypes.

    Published in:
    Annals of Neurology, 2022, v. 91, n. 2, p. 225, doi. 10.1002/ana.26293
    By:
    • Zech, Michael;
    • Kopajtich, Robert;
    • Steinbrücker, Katja;
    • Bris, Céline;
    • Gueguen, Naig;
    • Feichtinger, René G.;
    • Achleitner, Melanie T.;
    • Duzkale, Neslihan;
    • Périvier, Maximilien;
    • Koch, Johannes;
    • Engelhardt, Harald;
    • Freisinger, Peter;
    • Wagner, Matias;
    • Brunet, Theresa;
    • Berutti, Riccardo;
    • Smirnov, Dmitrii;
    • Navaratnarajah, Tharsini;
    • Rodenburg, Richard J.T.;
    • Pais, Lynn S;
    • Austin‐Tse, Christina
    Publication type:
    Article

  • Variants in DTNA cause a mild, dominantly inherited muscular dystrophy.

    Published in:
    Acta Neuropathologica, 2023, v. 145, n. 4, p. 479, doi. 10.1007/s00401-023-02551-7
    By:
    • Nascimento, Andres;
    • Bruels, Christine C.;
    • Donkervoort, Sandra;
    • Foley, A. Reghan;
    • Codina, Anna;
    • Milisenda, Jose C.;
    • Estrella, Elicia A.;
    • Li, Chengcheng;
    • Pijuan, Jordi;
    • Draper, Isabelle;
    • Hu, Ying;
    • Stafki, Seth A.;
    • Pais, Lynn S.;
    • Ganesh, Vijay S.;
    • O'Donnell-Luria, Anne;
    • Syeda, Safoora B.;
    • Carrera-García, Laura;
    • Expósito-Escudero, Jessica;
    • Yubero, Delia;
    • Martorell, Loreto
    Publication type:
    Article

  • seqr: A web‐based analysis and collaboration tool for rare disease genomics.

    Published in:
    Human Mutation, 2022, v. 43, n. 6, p. 698, doi. 10.1002/humu.24366
    By:
    • Pais, Lynn S.;
    • Snow, Hana;
    • Weisburd, Ben;
    • Zhang, Shifa;
    • Baxter, Samantha M.;
    • DiTroia, Stephanie;
    • O'Heir, Emily;
    • England, Eleina;
    • Chao, Katherine R.;
    • Lemire, Gabrielle;
    • Osei‐Owusu, Ikeoluwa;
    • VanNoy, Grace E.;
    • Wilson, Michael;
    • Nguyen, Kevin;
    • Arachchi, Harindra;
    • Phu, William;
    • Solomonson, Matthew;
    • Mano, Stacy;
    • O'Leary, Melanie;
    • Lovgren, Alysia
    Publication type:
    Article

  • Evaluating systematic reanalysis of clinical genomic data in rare disease from single center experience and literature review.

    Published in:
    Molecular Genetics & Genomic Medicine, 2020, v. 8, n. 11, p. 1, doi. 10.1002/mgg3.1508
    By:
    • Tan, Natalie B.;
    • Stapleton, Rachel;
    • Stark, Zornitza;
    • Delatycki, Martin B.;
    • Yeung, Alison;
    • Hunter, Matthew F.;
    • Amor, David J.;
    • Brown, Natasha J.;
    • Stutterd, Chloe A.;
    • McGillivray, George;
    • Yap, Patrick;
    • Regan, Matthew;
    • Chong, Belinda;
    • Fanjul Fernandez, Miriam;
    • Marum, Justine;
    • Phelan, Dean;
    • Pais, Lynn S.;
    • White, Susan M.;
    • Lunke, Sebastian;
    • Tan, Tiong Y.
    Publication type:
    Article