Search Results - Rena Vanzo

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  1. 1
    Chromosomal Microarray Analysis of Consecutive Individuals with Autism Spectrum Disorders Using an Ultra-High Resolution Chromosomal Microarray Optimized for Neurodevelopmental Disorders

    Chromosomal Microarray Analysis of Consecutive Individuals with Autism Spectrum Disorders Using an Ultra-High Resolution Chromosomal Microarray Optimized for Neurodevelopmental Dis... by Karen S. Ho, E. Robert Wassman, Adrianne L. Baxter, Charles H. Hensel, Megan Martin, Aparna Prasad, Hope Twede, Rena Vanzo, Merlin G. Butler

    Published 2016
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  2. 2
    Chromosomal microarray testing identifies a 4p terminal region associated with seizures in Wolf–Hirschhorn syndrome

    Chromosomal microarray testing identifies a 4p terminal region associated with seizures in Wolf–Hirschhorn syndrome by Karen S. Ho, Sarah T. South, Amanda Lortz, Charles H. Hensel, Mallory R. Sdano, Rena Vanzo, Megan Martin, Andreas Peiffer, Christophe G Lambert, Amy Calhoun, John C. Carey, Agatino Battaglia

    Published 2016
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  3. 3
    Limitations of exome sequencing in detecting rare and undiagnosed diseases

    Limitations of exome sequencing in detecting rare and undiagnosed diseases by Kendall J. Burdick, Joy D. Cogan, Lynette Rives, Amy K. Robertson, Mary Koziura, Elly Brokamp, Laura Duncan, Vickie Hannig, Jean P. Pfotenhauer, Rena Vanzo, Michael S. Paul, Anna Bican, Thomas M. Morgan, Jessica Duis, John H. Newman, Rizwan Hamid, John A. Phillips

    Published 2020
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  4. 4
    MEF2C Haploinsufficiency features consistent hyperkinesis, variable epilepsy, and has a role in dorsal and ventral neuronal developmental pathways

    MEF2C Haploinsufficiency features consistent hyperkinesis, variable epilepsy, and has a role in dorsal and ventral neuronal developmental pathways by Alex R. Paciorkowski, Ryan N. Traylor, Jill A. Rosenfeld, Jacqueline M. Hoover, Catharine Harris, Susan Winter, Yves Lacassie, Martin G. Bialer, Allen N. Lamb, Roger A. Schultz, Elizabeth Berry‐Kravis, Brenda E. Porter, Marni J. Falk, Anu Venkat, Rena Vanzo, Julie S. Cohen, Ali Fatemi, William B. Dobyns, Lisa G. Shaffer, Blake C. Ballif, Eric D. Marsh

    Published 2013
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  5. 5
    <i>GRIN2B</i>encephalopathy: novel findings on phenotype, variant clustering, functional consequences and treatment aspects

    <i>GRIN2B</i>encephalopathy: novel findings on phenotype, variant clustering, functional consequences and treatment aspects by Konrad Platzer, Hongjie Yuan, Hannah M. Schutz, Alexander Winschel, Wenjuan Chen, Chun Hu, Hirofumi Kusumoto, Henrike Heyne, Katherine L. Helbig, Sha Tang, Marcia Willing, Brad T. Tinkle, Darius J. Adams, Christel Depienne, Boris Keren, Cyril Mignot, Eirik Frengen, Petter Strømme, Saskia Biskup, Dennis Döcker, Tim M. Strom, Heather C. Mefford, Candace T. Myers, Alison M. Muir, Amy Lacroix, Lynette G. Sadleir, Ingrid E. Scheffer, Eva H. Brilstra, Mieke M. van Haelst, Jasper J. van der Smagt, Levinus A. Bok, Rikke S. Møller, Uffe Birk Jensen, J Gordon Millichap, Anne T. Berg, Ethan M. Goldberg, Isabelle De Bie, Stéphanie Fox, Philippe Major, Julie R. Jones, Elaine H. Zackai, Rami Abou Jamra, Arndt Rolfs, Richard J. Leventer, John A. Lawson, Tony Roscioli, Floor E. Jansen, Emmanuelle Ranza, Christian Korff, Anna-Elina Lehesjoki, Carolina Courage, Tarja Linnankivi, Andrew R. Smith, Christine M. Stanley, Mark Mintz, Dianalee McKnight, Amy Decker, Wen‐Hann Tan, Mark A. Tarnopolsky, Lauren Brady, Markus Wolff, Lutz Dondit, Hélio Pedro, Sarah Parisotto, Kelly L. Jones, Anup D. Patel, David Neal Franz, Rena Vanzo, Elysa Marco, Judith D. Ranells, Nataliya Di Donato, William B. Dobyns, Bodo Laube, Stephen F. Traynelis, Johannes R. Lemke

    Published 2017
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