檢索結果 - Madeleine R. Geisheker

  • Showing 1 - 5 results of 5
Refine Results
  1. 1
    Neurodevelopmental disease genes implicated by de novo mutation and copy number variation morbidity

    Neurodevelopmental disease genes implicated by de novo mutation and copy number variation morbidity 由 Bradley P. Coe, Holly A.F. Stessman, Arvis Sulovari, Madeleine R. Geisheker, Trygve E. Bakken, Allison M. Lake, Joseph D. Dougherty, Ed S. Lein, Fereydoun Hormozdiari, Raphael Bernier, Evan E. Eichler

    出版 2018
    獲取全文
    Artigo
    加到收藏夾
    Saved in:
  2. 2
    Hotspots of missense mutation identify neurodevelopmental disorder genes and functional domains

    Hotspots of missense mutation identify neurodevelopmental disorder genes and functional domains 由 Madeleine R. Geisheker, Gabriel Heymann, Tianyun Wang, Bradley P. Coe, Tychele N. Turner, Holly A.F. Stessman, Kendra Hoekzema, Malin Kvarnung, Marie Shaw, Kathryn Friend, Jan Liebelt, Christopher Barnett, Elizabeth M. Thompson, Eric Haan, Hui Guo, Britt-Marie Anderlid, Ann Nordgren, Anna Lindstrand, Geert Vandeweyer, A Alberti, Emanuela Avola, Mirella Vinci, Stefania Giusto, Tiziano Pramparo, Karen Pierce, Srinivasa Nalabolu, Jacob J. Michaelson, Zdeněk Sedláček, Gijs W.E. Santen, Hilde Peeters, Hákon Hákonarson, Eric Courchesne, Corrado Romano, R. Frank Kooy, Raphael Bernier, Magnus Nordenskjöld, Jozef Gécz, Kun Xia, Larry S. Zweifel, Evan E. Eichler

    出版 2017
    獲取全文
    Artigo
    加到收藏夾
    Saved in:
  3. 3
    Missense Variants in the Histone Acetyltransferase Complex Component Gene TRRAP Cause Autism and Syndromic Intellectual Disability

    Missense Variants in the Histone Acetyltransferase Complex Component Gene TRRAP Cause Autism and Syndromic Intellectual Disability 由 Benjamin Cogné, Sophie Ehresmann, Éliane Beauregard‐Lacroix, Justine Rousseau, Thomas Besnard, Thomas X. Garcia, Slavé Petrovski, Shiri Avni, Kirsty McWalter, Patrick R. Blackburn, Stephan Sanders, Kévin Uguen, Jacqueline Harris, Julie S. Cohen, Moira Blyth, Anna Lehman, Jonathan Berg, Mindy Li, Usha Kini, Shelagh Joss, Charlotte von der Lippe, Christopher T. Gordon, Jennifer Humberson, Laurie Robak, Daryl A. Scott, V. Reid Sutton, Cara Skraban, Jennifer J. Johnston, Annapurna Poduri, Magnus Nordenskjöld, Vandana Shashi, Erica H. Gerkes, Ernie M.H.F. Bongers, Christian Gilissen, Yuri A. Zárate, Malin Kvarnung, Kevin P. Lally, Peggy Kulch, Brina Daniels, Andrés Hernández, Nicholas Stong, Julie McGaughran, Kyle Retterer, Kristian Tveten, Jennifer A. Sullivan, Madeleine R. Geisheker, Asbjørg Stray‐Pedersen, Jennifer Tarpinian, Eric W. Klee, Julie C. Sapp, Jacob Zyskind, Øystein L. Holla, Emma Bedoukian, Francesca Filippini, Anne Guimier, Arnaud Picard, Øyvind L. Busk, Jaya Punetha, Rolph Pfundt, Anna Lindstrand, Ann Nordgren, Fayth M. Kalb, Megha Desai, Ashley H. Ebanks, Shalini N. Jhangiani, Tammie Dewan, Zeynep Coban‐Akdemir, Aida Telegrafi, Elaine H. Zackai, Amber Begtrup, Xiaofei Song, Annick Toutain, Ingrid M. Wentzensen, Sylvie Odent, Dominique Bonneau, Xénia Latypova, Wallid Deb, Sylvia Redon, Frédéric Bilan, Marine Legendre, Caitlin Troyer, Kerri Whitlock, Oana Caluseriu, Marine I. Murphree, Pavel N. Pichurin, Katherine Agre, Ralitza H. Gavrilova, Tuula Rinne, Meredith Park, Catherine Shain, Erin L. Heinzen, Rui Xiao, Jeanne Amiel, Stanislas Lyonnet, Bertrand Isidor, Leslie G. Biesecker, Dan Lowenstein, Jennifer E. Posey, Anne‐Sophie Denommé‐Pichon, Claude Férec

    出版 2019
    獲取全文 獲取全文
    Artigo
    加到收藏夾
    Saved in:
  4. 4
    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 由 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

    出版 2019
    獲取全文 獲取全文
    Artigo
    加到收藏夾
    Saved in:
  5. 5
    Large-scale targeted sequencing identifies risk genes for neurodevelopmental disorders

    Large-scale targeted sequencing identifies risk genes for neurodevelopmental disorders 由 Tianyun Wang, Kendra Hoekzema, Davide Vecchio, Huidan Wu, Arvis Sulovari, Bradley P. Coe, Madelyn A. Gillentine, Amy B. Wilfert, Luis A. Pérez‐Jurado, Malin Kvarnung, Yoeri Sleyp, Rachel K. Earl, Jill A. Rosenfeld, Madeleine R. Geisheker, Lin Han, Bing Du, Chris Barnett, E. A. Thompson, Marie Shaw, Renée Carroll, Kathryn Friend, Rachael Catford, Elizabeth E. Palmer, Xiaobing Zou, Jianjun Ou, Honghui Li, Hui Guo, Jennifer Gerdts, Emanuela Avola, Giuseppe Calabrese, Maurizio Elia, Donatella Greco, Anna Lindstrand, Ann Nordgren, Britt‐Marie Anderlid, Geert Vandeweyer, Anke Van Dijck, Nathalie Van der Aa, Brooke G. McKenna, Miroslava Hančárová, Šárka Bendová, Markéta Havlovicová, Giovanni Malerba, Bernardo Dalla Bernardina, Pierandrea Muglia, Arie van Haeringen, Mariëtte J.V. Hoffer, Barbara Franke, Gerarda Cappuccio, Martin B. Delatycki, Paul J. Lockhart, Melanie A. Manning, Pengfei Liu, Ingrid E. Scheffer, Nicola Brunetti‐Pierri, Nanda Rommelse, David G. Amaral, Gijs W.E. Santen, Elisabetta Trabetti, Zdeněk Sedláček, Jacob J. Michaelson, Karen Pierce, Eric Courchesne, R. Frank Kooy, John Acampado, J. Andrea, Alpha Amatya, Irina Astrovskaya, Asif Bashar, Elizabeth Brooks, Martin E. Butler, Lindsey A. Cartner, Wubin Chin, Wendy K. Chung, Amy M. Daniels, Pamela Feliciano, Chris Fleisch, Swami Ganesan, William B. Jensen, Alex E. Lash, Richard P. Marini, Vincent J. Myers, Eirene O’Connor, Chris Rigby, B. E. Robertson, Neelay Shah, Swapnil Shah, Emily Singer, LeeAnne Green Snyder, Alexandra N. Stephens, Jennifer Tjernagel, Brianna M. Vernoia, Natalia Volfovsky, L. Casey White, Alexander Hsieh, Yufeng Shen, Xueya Zhou, Tychele N. Turner, Ethan Bahl, Taylor R. Thomas

    出版 2020
    獲取全文 獲取全文
    Artigo
    加到收藏夾
    Saved in:

檢索工具: