Found: 12

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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

  • Fatal Case of Chronic Jamestown Canyon Virus Encephalitis Diagnosed by Metagenomic Sequencing in Patient Receiving Rituximab.

    Published in:
    2021
    By:
    • Solomon, Isaac H.;
    • Ganesh, Vijay S.;
    • Guixia Yu;
    • Xian Ding Deng;
    • Wilson, Michael R.;
    • Miller, Steve;
    • Milligan, Tracey A.;
    • Mukerji, Shibani S.;
    • Mathewson, Abigail;
    • Linxweiler, Justin;
    • Morse, Darlene;
    • Ritter, Jana M.;
    • Staples, J. Erin;
    • Hughes, Holly;
    • Gould, Carolyn V.;
    • Sabeti, Pardis C.;
    • Chiu, Charles Y.;
    • Piantadosi, Anne;
    • Yu, Guixia;
    • Deng, Xian Ding
    Publication type:
    journal article

  • Genomic and functional profiling of human Down syndrome neural progenitors implicates S100B and aquaporin 4 in cell injury.

    Published in:
    Human Molecular Genetics, 2008, v. 17, n. 3, p. 440, doi. 10.1093/hmg/ddm322
    By:
    • Esposito, Giuseppe;
    • Imitola, Jaime;
    • Lu, Jie;
    • De Filippis, Daniele;
    • Scuderi, Caterina;
    • Ganesh, Vijay S.;
    • Folkerth, Rebecca;
    • Hecht, Jonathan;
    • Shin, Soojung;
    • Iuvone, Teresa;
    • Chesnut, Jonathan;
    • Steardo, Luca;
    • Sheen, Volney
    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

  • Low Speed Centrifugation: A Novelconceptin Regenerative Endodontics.

    Published in:
    Journal of Pharmaceutical Negative Results, 2023, v. 14, n. 3, p. 1022, doi. 10.47750/pnr.2023.14.03.133
    By:
    • Ganesh, S. Vijay;
    • Jadhav, Aniket;
    • Sharma, Anupam;
    • Rajendran, Vikash;
    • Mhatre, Pranjal;
    • Kumar, Vaibhav
    Publication type:
    Article

  • BET1 variants establish impaired vesicular transport as a cause for muscular dystrophy with epilepsy.

    Published in:
    EMBO Molecular Medicine, 2021, v. 13, n. 12, p. 1, doi. 10.15252/emmm.202013787
    By:
    • Donkervoort, Sandra;
    • Krause, Niklas;
    • Dergai, Mykola;
    • Yun, Pomi;
    • Koliwer, Judith;
    • Gorokhova, Svetlana;
    • Geist Hauserman, Janelle;
    • Cummings, Beryl B;
    • Hu, Ying;
    • Smith, Rosemarie;
    • Uapinyoying, Prech;
    • Ganesh, Vijay S;
    • Ghosh, Partha S;
    • Monaghan, Kristin G;
    • Edassery, Seby L;
    • Ferle, Pia E;
    • Silverstein, Sarah;
    • Chao, Katherine R;
    • Snyder, Molly;
    • Ellingwood, Sara
    Publication type:
    Article

  • CHMP1A encodes an essential regulator of BMI1-INK4A in cerebellar development.

    Published in:
    Nature Genetics, 2012, v. 44, n. 11, p. 1260, doi. 10.1038/ng.2425
    By:
    • Mochida, Ganeshwaran H;
    • Ganesh, Vijay S;
    • de Michelena, Maria I;
    • Dias, Hugo;
    • Atabay, Kutay D;
    • Kathrein, Katie L;
    • Huang, Hsuan-Ting;
    • Hill, R Sean;
    • Felie, Jillian M;
    • Rakiec, Daniel;
    • Gleason, Danielle;
    • Hill, Anthony D;
    • Malik, Athar N;
    • Barry, Brenda J;
    • Partlow, Jennifer N;
    • Tan, Wen-Hann;
    • Glader, Laurie J;
    • Barkovich, A James;
    • Dobyns, William B;
    • Zon, Leonard I
    Publication type:
    Article

  • Mutations in PNKP cause microcephaly, seizures and defects in DNA repair.

    Published in:
    Nature Genetics, 2010, v. 42, n. 3, p. 245, doi. 10.1038/ng.526
    By:
    • Jun Shen;
    • Gilmore, Edward C.;
    • Marshall, Christine A.;
    • Haddadin, Mary;
    • Reynolds, John J.;
    • Eyaid, Wafaa;
    • Bodell, Adria;
    • Barry, Brenda;
    • Gleason, Danielle;
    • Allen, Kathryn;
    • Ganesh, Vijay S.;
    • Chang, Bernard S.;
    • Grix, Arthur;
    • Hill, R. Sean;
    • Topcu, Meral;
    • Caldecott, Keith W.;
    • Barkovich, A. James;
    • Walsh, Christopher A.
    Publication type:
    Article

  • Mutations in ARFGEF2 implicate vesicle trafficking in neural progenitor proliferation and migration in the human cerebral cortex.

    Published in:
    2004
    By:
    • Topcu, Meral;
    • Sebire, Guillaume;
    • Bodell, Adria;
    • Shugart, Yin Yao;
    • Imitola, Jaime;
    • Guerrini, Renzo;
    • Hill, R. Sean;
    • Grant, P. Ellen;
    • Walsh, Christopher A.;
    • Khoury, Samia J.;
    • Sheen, Volney L.;
    • Ganesh, Vijay S.
    Publication type:
    Letter

  • Genome and RNA sequencing boost neuromuscular diagnoses to 62% from 34% with exome sequencing alone.

    Published in:
    Annals of Clinical & Translational Neurology, 2024, v. 11, n. 5, p. 1250, doi. 10.1002/acn3.52041
    By:
    • Marchant, Rhett G.;
    • Bryen, Samantha J.;
    • Bahlo, Melanie;
    • Cairns, Anita;
    • Chao, Katherine R.;
    • Corbett, Alastair;
    • Davis, Mark R.;
    • Ganesh, Vijay S.;
    • Ghaoui, Roula;
    • Jones, Kristi J.;
    • Kornberg, Andrew J.;
    • Lek, Monkol;
    • Liang, Christina;
    • MacArthur, Daniel G.;
    • Oates, Emily C.;
    • O'Donnell‐Luria, Anne;
    • O'Grady, Gina L.;
    • Osei‐Owusu, Ikeoluwa A.;
    • Rafehi, Haloom;
    • Reddel, Stephen W.
    Publication type:
    Article

  • Diagnostic capabilities of nanopore long‐read sequencing in muscular dystrophy.

    Published in:
    Annals of Clinical & Translational Neurology, 2022, v. 9, n. 8, p. 1302, doi. 10.1002/acn3.51612
    By:
    • Bruels, Christine C.;
    • Littel, Hannah R.;
    • Daugherty, Audrey L.;
    • Stafki, Seth;
    • Estrella, Elicia A.;
    • McGaughy, Emily S.;
    • Truong, Don;
    • Badalamenti, Jonathan P.;
    • Pais, Lynn;
    • Ganesh, Vijay S.;
    • O'Donnell‐Luria, Anne;
    • Stalker, Heather J.;
    • Wang, Yang;
    • Collins, Christin;
    • Behlmann, Andrea;
    • Lemmers, Richard J. L. F.;
    • van der Maarel, Silvère M.;
    • Laine, Regina;
    • Ghosh, Partha S.;
    • Darras, Basil T.
    Publication type:
    Article

  • Exome Sequencing and the Identification of New Genes and Shared Mechanisms in Polymicrogyria.

    Published in:
    JAMA Neurology, 2023, v. 80, n. 9, p. 980, doi. 10.1001/jamaneurol.2023.2363
    By:
    • Akula, Shyam K.;
    • Chen, Allen Y.;
    • Neil, Jennifer E.;
    • Shao, Diane D.;
    • Mo, Alisa;
    • Hylton, Norma K.;
    • DiTroia, Stephanie;
    • Ganesh, Vijay S.;
    • Smith, Richard S.;
    • O'Kane, Katherine;
    • Yeh, Rebecca C.;
    • Marciano, Jack H.;
    • Kirkham, Samantha;
    • Kenny, Connor J.;
    • Song, Janet H. T.;
    • Al Saffar, Muna;
    • Millan, Francisca;
    • Harris, David J.;
    • Murphy, Andrea V.;
    • Klemp, Kara C.
    Publication type:
    Article