Search Results - Chris Balak

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  1. 1
    Total Extracellular Small RNA Profiles from Plasma, Saliva, and Urine of Healthy Subjects

    Total Extracellular Small RNA Profiles from Plasma, Saliva, and Urine of Healthy Subjects by Ashish Yeri, Amanda Courtright, Rebecca Reiman, Elizabeth Carlson, Taylor Beecroft, Alex Janss, Ashley L. Siniard, Ryan Richholt, Chris Balak, Joel Rozowsky, Robert R. Kitchen, Elizabeth Hutchins, Joseph Winarta, Roger McCoy, Matthew Anastasi, Seungchan Kim, Matthew J. Huentelman, Kendall Van Keuren‐Jensen

    Published 2017
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  2. 2
    A recurrent de novo missense mutation in UBTF causes developmental neuroregression

    A recurrent de novo missense mutation in UBTF causes developmental neuroregression by Camilo Toro, Roderick Hori, May Christine V. Malicdan, Cynthia J. Tifft, Amy Goldstein, William A. Gahl, David R. Adams, Harper B Fauni, Lynne A. Wolfe, Jianfeng Xiao, Mohammad Moshahid Khan, Jun Tian, Kevin A. Hope, Lawrence T. Reiter, Michel G. Tremblay, Tom Moss, Alexis L. Franks, Chris Balak, Mark S. LeDoux

    Published 2017
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  3. 3
    De novo mutations of the ATP6V1A gene cause developmental encephalopathy with epilepsy

    De novo mutations of the ATP6V1A gene cause developmental encephalopathy with epilepsy by Anna Fassio, Alessandro Esposito, Mitsuhiro Kato, Hirotomo Saitsu, Davide Mei, Carla Marini, Valerio Conti, Mitsuko Nakashima, Nobuhiko Okamoto, Akgun Olmez Turker, Burcu Albuz, Cavidan Nur Semerci Gündüz, Keiko Yanagihara, Elisa L. Belmonte, Luca Maragliano, Keri Ramsey, Chris Balak, Ashley L. Siniard, Vinodh Narayanan, Chihiro Ohba, Masaaki Shiina, Kazuhiro Ogata, Naomichi Matsumoto, Fabio Benfenati, Renzo Guerrini

    Published 2018
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  4. 4
    Rare De Novo Missense Variants in RNA Helicase DDX6 Cause Intellectual Disability and Dysmorphic Features and Lead to P-Body Defects and RNA Dysregulation

    Rare De Novo Missense Variants in RNA Helicase DDX6 Cause Intellectual Disability and Dysmorphic Features and Lead to P-Body Defects and RNA Dysregulation by Chris Balak, Marianne Bénard, Élise Schaefer, Sumaiya Iqbal, Keri Ramsey, Michèle Ernoult‐Lange, Francesca Mattioli, Lorida Llaci, Véronique Geoffroy, Maïté Courel, Marcus Naymik, Kristine Bachman, Rolph Pfundt, Patrick Rump, Johanna ter Beest, Ingrid M. Wentzensen, Kristin G. Monaghan, Kirsty McWalter, Ryan Richholt, Antony Le Béchec, Wayne M. Jepsen, Matt De Both, Newell Belnap, Anne Boland, Ignazio S. Piras, Jean‐François Deleuze, Szabolcs Szelinger, Hélène Dollfus, Jamel Chelly, Jean Muller, Arthur J. Campbell, Dennis Lal, Sampathkumar Rangasamy, Jean‐Louis Mandel, Vinodh Narayanan, Matt Huentelman, Dominique Weil, Amélie Piton

    Published 2019
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  5. 5
    Biallelic VARS variants cause developmental encephalopathy with microcephaly that is recapitulated in vars knockout zebrafish

    Biallelic VARS variants cause developmental encephalopathy with microcephaly that is recapitulated in vars knockout zebrafish by Aleksandra Siekierska, Hannah Stamberger, Tine Deconinck, Stephanie N. Oprescu, Michèle Partoens, Yifan Zhang, Jo Sourbron, Elias Adriaenssens, Patrick Mullen, Patrick Wiencek, Katia Hardies, Jeong-Soo Lee, Hoi-Khoanh Giong, Felix Distelmaier, Orly Elpeleg, Katherine L. Helbig, Joseph H. Hersh, Sedat Işıkay, Elizabeth Jordan, Ender Karaca, Angéla Kecskés, James R. Lupski, Réka Kovács-Nagy, Patrick May, Vinodh Narayanan, Manuela Pendziwiat, Keri Ramsey, Sampathkumar Rangasamy, Deepali N. Shinde, Ronen Spiegel, Vincent Timmerman, Sarah von Spiczak, Ingo Helbig, Chris Balak, Newell Belnap, Ana M. Claasen, Amanda Courtright, Matt De Both, Matthew J. Huentelman, Marcus Naymik, Ryan Richholt, Ashley L. Siniard, Szabolcs Szelinger, David W. Craig, Isabelle Schrauwen, Zaid Afawi, Rudi Balling, Stéphanie Baulac, Nina Barišić, Hande Çağlayan, Dana Craiu, Rosa Guerrero-López, Renzo Guerrini, Helle Hjalgrim, Johanna Jähn, Karl Martin Klein, Eric LeGuern, Johannes R. Lemke, Holger Lerche, Carla Marini, Rikke S. Møller, Hiltrud Muhle, Felix Rosenow, José M. Serratosa, Arvid Suls, Ulrich Stephani, Katalin Štěrbová, Pasquale Striano, Federico Zara, Sarah Weckhuysen, Christopher Francklyn, Anthony Antonellis, Peter de Witte, Peter De Jonghe

    Published 2019
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