Search Results - Angela Gruber

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  1. 1
    <i>LAMA2</i>gene mutation update: Toward a more comprehensive picture of the laminin-α2 variome and its related phenotypes

    <i>LAMA2</i>gene mutation update: Toward a more comprehensive picture of the laminin-α2 variome and its related phenotypes by Jorge Oliveira, Angela Gruber, Márcio Cardoso, Ricardo Taipa, Isabel Fineza, Ana Gonçalves, Andreas Laner, Thomas Winder, Jocelyn A. Schroeder, Julie Rath, Márcia E. Oliveira, Emília Vieira, Ana Paula Sousa, José Pedro Vieira, Teresa Lourenço, Luciano Almendra, Luís Negrão, Manuela Santos, Manuel Melo Pires, Teresa Coelho, Johan T. den Dunnen, Rosário Santos, Mário Sousa

    Published 2018
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  2. 2
    Intracellular calcium leak as a therapeutic target for RYR1-related myopathies

    Intracellular calcium leak as a therapeutic target for RYR1-related myopathies by Alexander Kushnir, Joshua J. Todd, Jessica W. Witherspoon, Qi Yuan, Steven Reiken, Harvey H. Lin, Ross H. Munce, Benjamin Wajsberg, Zephan Melville, Oliver B. Clarke, Kaylee Wedderburn-Pugh, Anetta Wronska, Muslima S. Razaqyar, Irene C. Chrismer, Monique O. Shelton, Ami Mankodi, Christopher Grunseich, Mark A. Tarnopolsky, Kurenai Tanji, Michio Hirano, Sheila Riazi, Natalia Kraeva, Nicol C. Voermans, Angela Gruber, Carolyn Allen, Katherine G. Meilleur, Andrew R. Marks

    Published 2020
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  3. 3
    Exome sequencing of 457 autism families recruited online provides evidence for autism risk genes

    Exome sequencing of 457 autism families recruited online provides evidence for autism risk genes by Pamela Feliciano, Xueya Zhou, Irina Astrovskaya, Tychele N. Turner, Tianyun Wang, Leo Brueggeman, Rebecca Barnard, Alexander Hsieh, LeeAnne Green Snyder, Donna M. Muzny, Aniko Sabo, Leonard Abbeduto, John Acampado, J. Andrea, Charles F. Albright, Michael Alessandri, David G. Amaral, Alpha Amatya, Robert D. Annett, Ivette Arriaga, Ethan Bahl, Adithya Balasubramanian, Nicole Bardett, Asif Bashar, Arthur L. Beaudet, Landon Beeson, Raphael Bernier, Elizabeth Berry‐Kravis, Stephanie Booker, Stephanie Brewster, Elizabeth Brooks, Martin E. Butler, Eric Butter, Kristen Callahan, Alexies Camba, Laura A. Carpenter, Nicholas Carriero, Lindsey A. Cartner, Ahmad S. Chatha, Wubin Chin, Renee D. Clark, Cheryl Cohen, Eric Courchesne, Joseph F. Cubells, Mary Hannah Currin, Amy M. Daniels, Lindsey DeMarco, Megan Y. Dennis, Gabriel S. Dichter, Yan Ding, Huyen Dinh, Ryan N. Doan, HarshaVardhan Doddapaneni, Sara Eldred, Christine M. Eng, Craig A. Erickson, Amy Esler, Ali Fatemi, Gregory J. Fischer, I. Fisk, Éric Fombonne, Emily A. Fox, Sunday M. Francis, Sandra Friedman, Swami Ganesan, Michael R. Garrett, Vahid Gazestani, Madeleine R. Geisheker, Jennifer Gerdts, Daniel H. Geschwind, Robin P. Goin‐Kochel, Anthony J. Griswold, Luke P. Grosvenor, Angela Gruber, Amanda C. Gulsrud, Jaclyn Gunderson, Anibal Gutierrez, Melissa N. Hale, Monica Haley, Jacob B. Hall, Kira E. Hamer, Bing Han, Nathan Hanna, Christina Harkins, Nina Harris, Brenda Hauf, Caitlin Hayes, Susan Hepburn, Lynette M. Herbert, Michelle Heyman, Brittani A. Phillips, Susannah Horner, Taobo Hu, Lark Y. Huang-Storms, Hanna Hutter, Dalia Istephanous, Suma Jacob, William B. Jensen, Mark Jones, Michelle Jordy

    Published 2019
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  4. 4
    Integrating de novo and inherited variants in 42,607 autism cases identifies mutations in new moderate-risk genes

    Integrating de novo and inherited variants in 42,607 autism cases identifies mutations in new moderate-risk genes by Xueya Zhou, Pamela Feliciano, Chang Shu, Tianyun Wang, Irina Astrovskaya, Jacob B. Hall, Joseph Obiajulu, Jessica Wright, Shwetha C. Murali, Simon Xu, Leo Brueggeman, Taylor R. Thomas, Olena Marchenko, Christopher Fleisch, Sarah D. Barns, LeeAnne Green Snyder, Bing Han, Timothy S. Chang, Tychele N. Turner, William T. Harvey, Andrew Nishida, Brian J. O’Roak, Daniel H. Geschwind, Adrienne Adams, Alpha Amatya, Alicia Andrus, Asif Bashar, Anna F. Berman, Alison Brown, Alexies Camba, Amanda C. Gulsrud, Anthony D. Krentz, Amanda D. Shocklee, Amy Esler, Alex E. Lash, Anne Fanta, Ali Fatemi, Angela Fish, Alexandra Goler, Antonio González, Anibal Gutierrez, Antonio Y. Hardan, Amy Hess, Anna Hirshman, Alison Holbrook, J. Andrea, Anthony J. Griswold, Angela Gruber, A Jarratt, Anna Jelinek, Alissa Jorgenson, Aline Juárez, Annes Kim, Alex Kitaygorodsky, Addie Luo, Angela L. Rachubinski, Allison Wainer, Amy M. Daniels, Anup Mankar, Andrew L. Mason, Alexandra Miceli, Anna Milliken, Amy Morales-Lara, Alexandra N. Stephens, Ai Nhu Nguyen, Amy Nicholson, Anna Marie Paolicelli, Alexander P. McKenzie, Abha R. Gupta, A Raven, Anna Rhea, Andrea Simon, Aubrie Soucy, Amy Swanson, Anthony Sziklay, Amber Tallbull, Angela Tesng, Audrey W. M. Ward, Allyson Zick, Brittani A. Hilscher, Brandi Bell, Barbara Enright, B. E. Robertson, Brenda Hauf, Bill Jensen, Brandon Lobisi, Brianna M. Vernoia, Brady Schwind, Bonnie VanMetre, Craig A. Erickson, Catherine Sullivan, Charles F. Albright, Claudine Anglo, Cate Buescher, Catherine C. Bradley, Claudia Campo-Soria, Cheryl Cohen, Costanza Colombi, Chris Diggins, Catherine Edmonson

    Published 2022
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