Search Results - Newell Belnap

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  1. 1
    Improved methods for RNAseq-based alternative splicing analysis

    Improved methods for RNAseq-based alternative splicing analysis by Rebecca F. Halperin, Apurva M. Hegde, Jessica D. Lang, Elizabeth A. Raupach, Vinodh Narayanan, Matt Huentelman, Newell Belnap, Anne-Marie Aziz, Keri Ramsey, Christophe Legendre, Winnie S. Liang, Patricia LoRusso, Aleksandar Sekulić, Jeffrey A. Sosman, Jeffrey M. Trent, Sampathkumar Rangasamy, Patrick Pirrotte, Nicholas J. Schork

    Published 2021
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  2. 2
    Gain-of-function variants in the ion channel gene TRPM3 underlie a spectrum of neurodevelopmental disorders

    Gain-of-function variants in the ion channel gene TRPM3 underlie a spectrum of neurodevelopmental disorders by Lydie Bürglen, Evelien Van Hoeymissen, Leila Qebibo, Magalie Barth, Newell Belnap, Felix Boschann, Christel Depienne, Katrien De Clercq, Andrew G. L. Douglas, Mark P. Fitzgerald, Nicola Foulds, Cathérine Garel, Ingo Helbig, Katharina Held, Denise Horn, Annelies Janssen, Angela M. Kaindl, Vinodh Narayanan, Christina Prager, Mailys Rupin-Mas, Alexandra Afenjar, Siyuan Zhao, V. Ramaekers, Sarah M. Ruggiero, Simon Thomas, Stéphanie Valence, Lionel Van Maldergem, Tibor Rohács, Diana Rodriguez, David A. Dyment, Thomas Voets, Joris Vriens

    Published 2023
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  3. 3
    Loss-of-function and missense variants in NSD2 cause decreased methylation activity and are associated with a distinct developmental phenotype

    Loss-of-function and missense variants in NSD2 cause decreased methylation activity and are associated with a distinct developmental phenotype by Paolo Zanoni, Katharina Steindl, Deepanwita Sengupta, Pascal Joset, Angela Bahr, Heinrich Sticht, Mariarosaria Lang‐Muritano, Conny M.A. van Ravenswaaij‐Arts, Marwan Shinawi, Marisa V. Andrews, Tania Attié‐Bitach, Isabelle Maystadt, Newell Belnap, Valérie Benoît, Geoffroy Delplancq, Bert B.A. de Vries, Sarah Grotto, Didier Lacombe, Austin Larson, Jeroen Mourmans, Katrin Õunap, Giulia Petrilli, Rolph Pfundt, Keri Ramsey, Lot Snijders Blok, Vassilis Tsatsaris, Antonio Vitobello, Laurence Faivre, Patricia G. Wheeler, Marijke R. Wevers, Monica H. Wojcik, Markus Zweier, Or Gozani, Anita Rauch

    Published 2021
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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
    Delineating the <i>GRIN1</i> phenotypic spectrum

    Delineating the <i>GRIN1</i> phenotypic spectrum by Johannes R. Lemke, Kirsten Geider, Katherine L. Helbig, Henrike Heyne, Hannah M. Schutz, Julia Hentschel, Carolina Courage, Christel Depienne, Caroline Nava, Delphine Héron, Rikke S. Møller, Helle Hjalgrim, Dennis Lal, Bernd A. Neubauer, Peter Nürnberg, Hölger Thiele, Gerhard Kurlemann, Georgianne L. Arnold, Vikas Bhambhani, Deborah Bartholdi, Christeen Ramane J. Pedurupillay, Doriana Misceo, Eirik Frengen, Petter Strømme, Dennis Dlugos, Emily S Doherty, Emilia K. Bijlsma, Claudia Ruivenkamp, Mariëtte J.V. Hoffer, Amy B. Goldstein, Deepa Rajan, Vinodh Narayanan, Keri Ramsey, Newell Belnap, Isabelle Schrauwen, Ryan Richholt, Bobby P.C. Koeleman, Joaquim Sá, Carla Mendonça, Carolien G. F. de Kovel, Sarah Weckhuysen, Katia Hardies, Peter De Jonghe, Linda De Meırleır, Mathieu Milh, Catherine Badens, Marine Lebrun, Tiffany Busa, Christine Francannet, Amélie Piton, Erik Riesch, Saskia Biskup, Heinrich Vogt, Thomas Dorn, Ingo Helbig, Jacques L. Michaud, Bodo Laube, Steffen Syrbe

    Published 2016
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  6. 6
    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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