Search Results - Emily Bonkowski

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  1. 1
    Ataxia-Pancytopenia Syndrome Is Caused by Missense Mutations in SAMD9L

    Ataxia-Pancytopenia Syndrome Is Caused by Missense Mutations in SAMD9L by Dong-Hui Chen, Jennifer E. Below, Akiko Shimamura, Sioḃán Keel, Mark Matsushita, John Wolff, Youngmee Sul, Emily Bonkowski, María Castellà, Toshiyasu Taniguchi, Deborah A. Nickerson, Thalia Papayannopoulou, Thomas D. Bird, Wendy H. Raskind

    Published 2016
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  2. 2
    Two Novel Mutations in<i>ABHD12</i>: Expansion of the Mutation Spectrum in PHARC and Assessment of Their Functional Effects

    Two Novel Mutations in<i>ABHD12</i>: Expansion of the Mutation Spectrum in PHARC and Assessment of Their Functional Effects by Dong-Hui Chen, Alipi V. Naydenov, Jacqueline L. Blankman, Heather C. Mefford, Marie Y. Davis, Youngmee Sul, A. Samuel Barloon, Emily Bonkowski, John Wolff, Mark Matsushita, Corrine Smith, Benjamin F. Cravatt, Ken Mackie, Wendy H. Raskind, Nephi Stella, Thomas D. Bird

    Published 2013
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  3. 3
    Altered splicing of ATP6AP2 causes X-linked parkinsonism with spasticity (XPDS)

    Altered splicing of ATP6AP2 causes X-linked parkinsonism with spasticity (XPDS) by Olena Korvatska, Nicholas S. Strand, Jason D. Berndt, Tim Strovas, Dong Hui Chen, James B. Leverenz, Konstantin Kiianitsa, Ignácio F. Mata, Emre Karakoç, J. Lynne Greenup, Emily Bonkowski, Joseph Chuang, Randall T. Moon, Evan E. Eichler, Deborah A. Nickerson, Cyrus P. Zabetian, Brian C. Kraemer, Thomas D. Bird, Wendy H. Raskind

    Published 2013
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  4. 4
    Gain‐of‐function <i>ADCY5</i> mutations in familial dyskinesia with facial myokymia

    Gain‐of‐function <i>ADCY5</i> mutations in familial dyskinesia with facial myokymia by Yingzhang Chen, Jennifer Friedman, Donghui Chen, Guy C.‐K. Chan, Cinnamon S. Bloss, Fuki M. Hisama, Sarah E. Topol, Andrew R. Carson, Phillip Pham, Emily Bonkowski, Erick R. Scott, Janel K. Lee, Guangfa Zhang, Glenn Oliveira, Jian Xu, Ashley A. Scott‐Van Zeeland, Qi Chen, Samuel Lévy, Eric J. Topol, Daniel R. Storm, Phillip D. Swanson, Thomas D. Bird, Nicholas J. Schork, Wendy H. Raskind, Ali Torkamani

    Published 2014
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  5. 5
    <i>ADCY5</i> -related dyskinesia

    <i>ADCY5</i> -related dyskinesia by Donghui Chen, Aurélie Méneret, Jennifer Friedman, Olena Korvatska, Alona Gad, Emily Bonkowski, Holly A.F. Stessman, Diane Doummar, Cyril Mignot, Mathieu Anheim, Saunder Bernes, Marie Y. Davis, Nathalie Damon‐Perrière, Bertrand Degos, David Grabli, Domitille Gras, Fuki M. Hisama, Katherine M. Mackenzie, Phillip D. Swanson, Christine Tranchant, Marie Vidailhet, Steven P. Winesett, Oriane Trouillard, Laura M. Amendola, Michael O. Dorschner, Michael D. Weiss, Evan E. Eichler, Ali Torkamani, Emmanuel Roze, Thomas D. Bird, Wendy H. Raskind

    Published 2015
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  6. 6
    Targeted long-read sequencing identifies missing disease-causing variation

    Targeted long-read sequencing identifies missing disease-causing variation by Danny E. Miller, Arvis Sulovari, Tianyun Wang, Hailey Loucks, Kendra Hoekzema, Katherine M. Munson, Alexandra P. Lewis, Edith P. Almanza Fuerte, Catherine R. Paschal, Tom Walsh, Jenny Thies, James T. Bennett, Ian Glass, Katrina M. Dipple, Karynne Patterson, Emily Bonkowski, Zoe Nelson, Audrey Squire, Megan Sikes, Erika Beckman, Robin L. Bennett, Dawn Earl, Winston Lee, Rando Allikmets, Seth J. Perlman, Penny Chow, Anne Hing, Tara Wenger, Margaret P Adam, Angela Sun, Christina Lam, Irene J. Chang, Xue Zou, Stephanie Austin, Erin Huggins, Alexias Safi, Apoorva K. Iyengar, Timothy E. Reddy, William H. Majoros, Andrew S. Allen, Gregory E. Crawford, Priya S. Kishnani, Mary‐Claire King, Tim Cherry, Jessica X. Chong, Michael J. Bamshad, Deborah A. Nickerson, Heather C. Mefford, Dan Doherty, Evan E. Eichler

    Published 2021
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  7. 7
    Diagnostic utility of DNA methylation analysis in genetically unsolved pediatric epilepsies and CHD2 episignature refinement

    Diagnostic utility of DNA methylation analysis in genetically unsolved pediatric epilepsies and CHD2 episignature refinement by Christy W. LaFlamme, Cassandra Rastin, Soham Sengupta, Helen E. Pennington, Sophie Russ-Hall, Amy L. Schneider, Emily Bonkowski, Edith P. Almanza Fuerte, Talia J. Allan, Miranda Galey, Joy Goffena, Sophia B Gibson, Denis M. Nyaga, Nico Lieffering, Malavika Hebbar, Emily Walker, Daniel Darnell, Scott R. Olsen, Pandurang Kolekar, Mohamed Nadhir Djekidel, Wojciech Rosikiewicz, Haley McConkey, Jennifer Kerkhof, Michael A. Levy, Raissa Relator, Dorit Lev, Tally Lerman‐Sagie, Kristen Park, Mariëlle Alders, Gerarda Cappuccio, Nicolas Chatron, Leigh Demain, David Geneviève, Gaëtan Lesca, Tony Roscioli, Damien Sanlaville, Matthew L. Tedder, Sachin Gupta, Elizabeth A. Jones, Monika Weisz-Hubshman, Shamika Ketkar, Hongzheng Dai, Kim C. Worley, Jill A. Rosenfeld, Hsiao‐Tuan Chao, Geoffrey Neale, Gemma L. Carvill, Zhaoming Wang, Samuel F. Berkovic, Lynette G. Sadleir, Danny E. Miller, Ingrid E. Scheffer, Bekim Sadiković, Heather C. Mefford

    Published 2024
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  8. 8
    Association of Variants in the <i>SPTLC1</i> Gene With Juvenile Amyotrophic Lateral Sclerosis

    Association of Variants in the <i>SPTLC1</i> Gene With Juvenile Amyotrophic Lateral Sclerosis by Janel O. Johnson, Ruth Chia, Danny E. Miller, Rachel Li, Ravindran Kumaran, Yevgeniya Abramzon, Nada Alahmady, Alan E. Renton, Simon Topp, J. Raphael Gibbs, Mark Cookson, Marya S. Sabir, Clifton L. Dalgard, Claire Troakes, Ashley Jones, Aleksey Shatunov, Alfredo Iacoangeli, Ahmad Al Khleifat, Nicola Ticozzi, Vincenzo Silani, Cinzia Gellera, Ian P. Blair, Carol Dobson‐Stone, John B. Kwok, Emily Bonkowski, Robin Palvadeau, Pentti J. Tienari, Karen Morrison, Pamela J. Shaw, Ammar Al‐Chalabi, Robert H. Brown, Andrea Calvo, Gabriele Mora, Hind Al-Saif, Marc Gotkine, Fawn Leigh, Irene J. Chang, Seth J. Perlman, Ian Glass, Anna I. Scott, Christopher E. Shaw, A. Nazlı Başak, John E. Landers, Adriano Chió, Thomas O. Crawford, Bradley Smith, Bryan J. Traynor, Bradley Smith, Nicola Ticozzi, Claudia Fallini, Athina Soragia Gkazi, Simon Topp, Emma L. Scotter, Kevin P. Kenna, Pamela Keagle, Cinzia Tiloca, Caroline Vance, Claire Troakes, Claudia Colombrita, Andrew King, Viviana Pensato, Barbara Castellotti, Frank Baas, Anneloor L.M.A. ten Asbroek, Diane McKenna‐Yasek, Russell L. McLaughlin, Meraida Polak, Pamela J. Shaw, Jesús Esteban‐Pérez, Zorica Stević, Sandra D’Alfonso, Letizia Mazzini, Giacomo P. Comi, Roberto Del Bo, Mauro Ceroni, Stella Gagliardi, Giorgia Querin, Cinzia Bertolin, Wouter van Rheenen, Rosa Rademakers, Marka van Blitterswijk, Giuseppe Lauria, Stefano Duga, Stefania Corti, Cristina Cereda, Lucia Corrado, Gianni Sorarù, Kelly L. Williams, Garth A. Nicholson, Ian P. Blair, Claire Leblond-Manry, Guy A. Rouleau, Orla Hardiman, Karen Morrison, Jan H. Veldink, Leonard H. van den Berg, Ammar Al‐Chalabi, Hardev Pall, Pamela J. Shaw, Martin R. Turner

    Published 2021
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  9. 9
    Beyond the exome: What’s next in diagnostic testing for Mendelian conditions

    Beyond the exome: What’s next in diagnostic testing for Mendelian conditions by Monica H. Wojcik, Chloe M. Reuter, Shruti Marwaha, Medhat Mahmoud, Michael H. Duyzend, Hayk Barseghyan, Bo Yuan, Philip M. Boone, Emily Groopman, Emmanuèle C. Délot, Deepti Jain, Alba Sanchis‐Juan, Lea M. Starita, Michael E. Talkowski, Stephen B. Montgomery, Michael J. Bamshad, Jessica X. Chong, Matthew T. Wheeler, Seth Berger, Anne O’Donnell‐Luria, Fritz J. Sedlazeck, Danny E. Miller, Siwaar Abouhala, Jessica Albert, Miguel Almalvez, Raquel Alvarez, Mutaz Amin, Peter Anderson, Swaroop Aradhya, Euan A. Ashley, Themistocles L. Assimes, Light Auriga, Christina Austin‐Tse, Mike Bamshad, Hayk Barseghyan, Samantha Baxter, Sairam Behera, Shaghayegh Beheshti, Gill Bejerano, Seth Berger, Jon Bernstein, Sabrina Best, Benjamin Blankenmeister, Elizabeth Blue, Eric Boerwinkle, Emily Bonkowski, Devon Bonner, Philip Boone, Miriam Bornhorst, Tugce Bozkurt‐Yozgatli, Harrison Brand, Kati J. Buckingham, Daniel G. Calame, Silvia Casadei, Lisa H. Chadwick, Clarisa Chavez, Ziwei Chen, Iván K. Chinn, Jessica X. Chong, Zeynep Coban‐Akdemir, Andrea J. Cohen, Sarah J. Conner, Matthew P. Conomos, Karen J. Coveler, Ya Allen Cui, Sara Currin, Robert Daber, Zain Dardas, Colleen Davis, Moez Dawood, Ivan De Dios, Celine De Esch, Meghan Delaney, Emmanuèle C. Délot, Stephanie DiTroia, HarshaVardhan Doddapaneni, Haowei Du, Ruizhi Duan, Shannon Dugan‐Perez, Nhat Duong, Michael H. Duyzend, Evan E. Eichler, Sara Emami, Jawid M. Fatih, Jamie L. Fraser, Vincent A. Fusaro, Miranda Galey, Vijay Ganesh, Kiran Garimella, Richard A. Gibbs, Casey A. Gifford, Amy Ginsburg, Pagé C. Goddard, Stephanie M. Gogarten, Nikhita Gogate, William Gordon, John E. Gorzynski, William J. Greenleaf, Christopher M. Grochowski, Emily Groopman

    Published 2023
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