Works by Ganetzky, Rebecca

Results: 33
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    Utility of genome sequencing in exome‐negative pediatric patients with neurodevelopmental phenotypes.

    Published in:
    American Journal of Medical Genetics. Part A, 2024, v. 194, n. 12, p. 1, doi. 10.1002/ajmg.a.63817
    By:
    • Nomakuchi, Tomoki T.;
    • Teferedegn, Eden Y.;
    • Li, Dong;
    • Muirhead, Kayla J.;
    • Dubbs, Holly;
    • Leonard, Jacqueline;
    • Muraresku, Colleen;
    • Sergio, Emily;
    • Arnold, Kaley;
    • Pizzino, Amy;
    • Skraban, Cara M.;
    • Zackai, Elaine H.;
    • Wang, Kai;
    • Ganetzky, Rebecca D.;
    • Vanderver, Adeline L.;
    • Ahrens‐Nicklas, Rebecca C.;
    • Bhoj, Elizabeth J. K.
    Publication type:
    Article
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    Single Large-Scale Mitochondrial Deletion Syndromes: Neuroimaging Phenotypes and Longitudinal Progression in Pediatric Patients.

    Published in:
    American Journal of Neuroradiology, 2025, v. 46, n. 6, p. 1272, doi. 10.3174/ajnr.A8670
    By:
    • Alves, Cesar A. P. F.;
    • Rossi-Espagnet, Maria Camilla;
    • Perez, Francisco;
    • Manteghinejad, Amirreza;
    • Peterson, James T.;
    • Ganetzky, Rebecca;
    • Napolitano, Antonio;
    • Grassi, Francesco;
    • George-Sankoh, Ibrahim;
    • Yildiz, Harun;
    • Muraresku, Colleen;
    • Falk, Marni J.;
    • Martinelli, Diego;
    • Longo, Daniela;
    • Vanderver, Adeline;
    • Gandolfo, Carlo;
    • Saneto, Russell P.;
    • Goldstein, Amy;
    • Vossough, Arastoo
    Publication type:
    Article
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    'CHARGE-like presentation, craniosynostosis and mild Mowat-Wilson Syndrome diagnosed by recognition of the distinctive facial gestalt in a cohort of 28 new cases' American Journal of Medical Genetics Part A. 164:2557-2566, 2014.

    Published in:
    American Journal of Medical Genetics. Part A, 2015, v. 167A, n. 7, p. 1682, doi. 10.1002/ajmg.a.36860
    By:
    • Wenger, Tara L.;
    • Harr, Margaret;
    • Ricciardi, Stefania;
    • Bhoj, Elizabeth;
    • Santani, Avni;
    • Adam, Margaret P.;
    • Barnett, Sarah S.;
    • Ganetzky, Rebecca;
    • McDonald‐McGinn, Donna M.;
    • Battaglia, Domenica;
    • Bigoni, Stefania;
    • Selicorni, Angelo;
    • Sorge, Giovanni;
    • Monica, Matteo Della;
    • Mari, Francesca;
    • Andreucci, Elena;
    • Romano, Silvia;
    • Cocchi, Guido;
    • Savasta, Salvatore;
    • Malbora, Baris
    Publication type:
    Article
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    CHARGE-like presentation, craniosynostosis and mild Mowat-Wilson Syndrome diagnosed by recognition of the distinctive facial gestalt in a cohort of 28 new cases.

    Published in:
    American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 10, p. 2557, doi. 10.1002/ajmg.a.36696
    By:
    • Wenger, Tara L.;
    • Harr, Margaret;
    • Ricciardi, Stefania;
    • Bhoj, Elizabeth;
    • Santani, Avni;
    • Adam, Margaret P.;
    • Barnett, Sarah S.;
    • Ganetzky, Rebecca;
    • McDonald‐McGinn, Donna M.;
    • Battaglia, Domenica;
    • Bigoni, Stefania;
    • Selicorni, Angelo;
    • Sorge, Giovanni;
    • Monica, Matteo Della;
    • Mari, Francesca;
    • Andreucci, Elena;
    • Romano, Silvia;
    • Cocchi, Guido;
    • Savasta, Salvatore;
    • Malbora, Baris
    Publication type:
    Article
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    Reply to "Pediatric Leigh Syndrome: Neuroimaging Features and Genetic Correlations".

    Published in:
    Annals of Neurology, 2021, v. 89, n. 3, p. 631, doi. 10.1002/ana.25999
    By:
    • Alves, Cesar Augusto Pinheiro Ferreira;
    • Teixeira, Sara Reis;
    • Martin‐Saavedra, Juan Sebastian;
    • Guimarães Gonçalves, Fabrício;
    • Lo Russo, Francesco;
    • Muraresku, Colleen;
    • McCormick, Elizabeth M.;
    • Zolkipli‐Cunningham, Zarazuela;
    • Ganetzky, Rebecca;
    • Falk, Marni J.;
    • Vossough, Arastoo;
    • Goldstein, Amy;
    • Zuccoli, Giulio
    Publication type:
    Article
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    Pediatric Leigh Syndrome: Neuroimaging Features and Genetic Correlations.

    Published in:
    2020
    By:
    • Alves, Cesar A. P. F.;
    • Teixeira, Sara R.;
    • Martin‐Saavedra, Juan S.;
    • Guimarães Gonçalves, Fabrício;
    • Lo Russo, Francesco;
    • Muraresku, Colleen;
    • McCormick, Elizabeth M.;
    • Falk, Marni J.;
    • Zolkipli‐Cunningham, Zarazuela;
    • Ganetzky, Rebecca;
    • Vossough, Arastoo;
    • Goldstein, Amy;
    • Zuccoli, Giulio;
    • Martin-Saavedra, Juan S;
    • Zolkipli-Cunningham, Zarazuela
    Publication type:
    journal article
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    Impaired hydroxylation of 5-methylcytosine in myeloid cancers with mutant TET2.

    Published in:
    Nature, 2010, v. 468, n. 7325, p. 839, doi. 10.1038/nature09586
    By:
    • Myunggon Ko;
    • Yun Huang;
    • Jankowska, Anna M.;
    • Pape, Utz J.;
    • Tahiliani, Mamta;
    • Bandukwala, Hozefa S.;
    • Jungeun An;
    • Lamperti, Edward D.;
    • Kian PengKoh;
    • Ganetzky, Rebecca;
    • Liu, X. Shirley;
    • Aravind, L.;
    • Agarwal, Suneet;
    • Maciejewski, Jaroslaw P.;
    • Anjana Rao
    Publication type:
    Article
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    Perspectives of Rare Disease Experts on Newborn Genome Sequencing.

    Published in:
    JAMA Network Open, 2023, v. 6, n. 5, p. e2312231, doi. 10.1001/jamanetworkopen.2023.12231
    By:
    • Gold, Nina B.;
    • Adelson, Sophia M.;
    • Shah, Nidhi;
    • Williams, Shardae;
    • Bick, Sarah L.;
    • Zoltick, Emilie S.;
    • Gold, Jessica I.;
    • Strong, Alanna;
    • Ganetzky, Rebecca;
    • Roberts, Amy E.;
    • Walker, Melissa;
    • Holtz, Alexander M.;
    • Sankaran, Vijay G.;
    • Delmonte, Ottavia;
    • Tan, Weizhen;
    • Holm, Ingrid A.;
    • Thiagarajah, Jay R.;
    • Kamihara, Junne;
    • Comander, Jason;
    • Place, Emily
    Publication type:
    Article
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