Search Results - Catherine Ward‐Melver

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  1. 1
    Prevalence and penetrance of <i><scp>ZFPM2</scp></i> mutations and deletions causing congenital diaphragmatic hernia

    Prevalence and penetrance of <i><scp>ZFPM2</scp></i> mutations and deletions causing congenital diaphragmatic hernia by Mauro Longoni, Meaghan Russell, Frances A. High, Katayoon Darvishi, Faouzi I. Maalouf, Alireza Kashani, Adam Tracy, Caroline Coletti, Marı́a Loscertales, Kasper Lage, Kate G. Ackerman, Susan A. Woods, Catherine Ward‐Melver, Dan Andrews, C. Lee, Barbara R. Pober, Patricia K. Donahoe

    Published 2014
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  2. 2
    Sustained immune tolerance induction in enzyme replacement therapy–treated CRIM-negative patients with infantile Pompe disease

    Sustained immune tolerance induction in enzyme replacement therapy–treated CRIM-negative patients with infantile Pompe disease by Zoheb B. Kazi, Ankit K. Desai, Kathryn L. Berrier, R. Bradley Troxler, Raymond Wang, Omar Abdul‐Rahman, Pranoot Tanpaiboon, Nancy J. Mendelsohn, Eli Herskovitz, David Kronn, Michal Inbar‐Feigenberg, Catherine Ward‐Melver, Michelle Polan, Punita Gupta, Amy S. Rosenberg, Priya S. Kishnani

    Published 2017
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  3. 3
    De Novo Truncating Variants in SON Cause Intellectual Disability, Congenital Malformations, and Failure to Thrive

    De Novo Truncating Variants in SON Cause Intellectual Disability, Congenital Malformations, and Failure to Thrive by Mari Tokita, Alicia Braxton, Yunru Shao, Andrea M. Lewis, Marie Vincent, Sébastien Küry, Thomas Besnard, Bertrand Isidor, Xénia Latypova, Stéphane Bézieau, Pengfei Liu, Connie S. Motter, Catherine Ward Melver, Nathaniel H. Robin, Elena Infante, Marianne McGuire, Areeg El‐Gharbawy, Rebecca O. Littlejohn, Scott D. McLean, Weimin Bi, Carlos A. Bacino, Seema R. Lalani, Daryl A. Scott, Christine M. Eng, Yaping Yang, Christian P. Schaaf, Magdalena Walkiewicz

    Published 2016
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  4. 4
    Biallelic <i>PI4KA</i> variants cause neurological, intestinal and immunological disease

    Biallelic <i>PI4KA</i> variants cause neurological, intestinal and immunological disease by Claire Salter, Yiying Cai, Bernice Lo, Guy Helman, Henry M. Taylor, Amber J. McCartney, Joseph S. Leslie, Andrea Accogli, Federico Zara, Monica Traverso, James Fasham, Joshua A. Lees, Matteo P. Ferla, Barry A. Chioza, Olivia Wenger, Ethan M. Scott, Harold E. Cross, Joanna Crawford, Ilka Warshawsky, Matthew Keisling, Dimitris P. Agamanolis, Catherine Ward Melver, Helen Cox, Mamoun Elawad, Tamás Marton, Matthew N. Wakeling, Dirk Holzinger, Stephan Tippelt, Martin Munteanu, Deyana Valcheva, Christin Deal, Sara Van Meerbeke, Catherine Walsh Vockley, Manish J. Butte, Utkucan Acar, Marjo S. van der Knaap, Georg Christoph Korenke, Urania Kotzaeridou, Tamás Balla, Cas Simons, Holm H. Uhlig, Andrew H. Crosby, Pietro De Camilli, Nicole I. Wolf, Emma L. Baple

    Published 2021
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  5. 5
    Complex Compound Inheritance of Lethal Lung Developmental Disorders Due to Disruption of the TBX-FGF Pathway

    Complex Compound Inheritance of Lethal Lung Developmental Disorders Due to Disruption of the TBX-FGF Pathway by Justyna A. Karolak, Marie Vincent, Gail Deutsch, Tomasz Gambin, Benjamin Cogné, Olivier Pichon, Francesco Vetrini, Heather C. Mefford, Jennifer N. Dines, Katie Golden‐Grant, Katrina M. Dipple, Amanda S. Freed, Kathleen A. Leppig, Megan K. Dishop, David Mowat, Bruce Bennetts, Andrew J. Gifford, Martin Weber, Anna F. Lee, Cornelius F. Boerkoel, Tina M. Bartell, Catherine Ward‐Melver, Thomas Besnard, Florence Petit, Iben Bache, Zeynep Tümer, Marie Denis-Musquer, Madeleine Joubert, Jéléna Martinovic, Claire Bénéteau, Arnaud Molin, Dominique Carles, Gwenaëlle André, Éric Bieth, Nicolas Chassaing, Louise Devisme, Lara Chalabreysse, Laurent Pasquier, Véronique Secq, Massimiliano Don, Maria ­Orsaria, Chantal Missirian, Jérémie Mortreux, Damien Sanlaville, Linda Pons, Sébastien Küry, Stéphane Bézieau, Jean-Michel Liet, Nicolas Joram, Tiphaine Bihouée, Daryl A. Scott, Chester Brown, Fernando Scaglia, Anne Chun-Hui Tsai, Dorothy K. Grange, John A. Phillips, Jean P. Pfotenhauer, Shalini N. Jhangiani, Claudia Gonzaga‐Jauregui, Wendy K. Chung, Galen M. Schauer, Mark Lipson, Catherine L. Mercer, Arie van Haeringen, Qian Liu, Edwina J. Popek, Zeynep H. Coban Akdemir, James R. Lupski, Przemysław Szafrański, Bertrand Isidor, Cédric Le Caignec, Paweł Stankiewicz

    Published 2019
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