Resultados da busca - Bonnie Sullivan

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  1. 1
    Impaired eIF5A function causes a Mendelian disorder that is partially rescued in model systems by spermidine

    Impaired eIF5A function causes a Mendelian disorder that is partially rescued in model systems by spermidine por Víctor Faúndes, Martin D. Jennings, Siobhan Crilly, Sarah Legraie, Sarah E. Withers, Sara Cuvertino, Sally Davies, Andrew G. L. Douglas, Andrew E. Fry, Victoria Harrison, Jeanne Amiel, Daphné Lehalle, William G. Newman, Patricia Newkirk, Judith D. Ranells, Miranda Splitt, Laura Cross, Carol Saunders, Bonnie Sullivan, Jorge L. Granadillo, Christopher T. Gordon, Paul R. Kasher, Graham D. Pavitt, Siddharth Banka

    Publicado em 2021
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  2. 2
    Mono-allelic KCNB2 variants lead to a neurodevelopmental syndrome caused by altered channel inactivation

    Mono-allelic KCNB2 variants lead to a neurodevelopmental syndrome caused by altered channel inactivation por Shreyas Bhat, Justine Rousseau, Coralie Michaud, Charles Marques Lourenço, Joan M. Stoler, Raymond J. Louie, L. Kate Clarkson, Angie Lichty, Daniel C. Koboldt, Shalini C. Reshmi, Sanjay M. Sisodiya, Eva M. M. Hoytema van Konijnenburg, Klaas Koop, Peter M. van Hasselt, Florence Démurger, Christèle Dubourg, Bonnie Sullivan, Susan Hughes, Isabelle Thiffault, Elisabeth Simard Tremblay, Andrea Accogli, Myriam Srour, Rikard Blunck, Philippe M. Campeau

    Publicado em 2024
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  3. 3
    POLR1A variants underlie phenotypic heterogeneity in craniofacial, neural, and cardiac anomalies

    POLR1A variants underlie phenotypic heterogeneity in craniofacial, neural, and cardiac anomalies por Kelly Smallwood, Kristin E.N. Watt, Satoru Ide, Kristina Baltrunaite, Chad Brunswick, Katherine Inskeep, Corrine Capannari, Margaret P Adam, Amber Begtrup, Débora Romeo Bertola, Laurie Demmer, Erin Demo, Orrin Devinsky, Emily R. Gallagher, María J. Guillen Sacoto, Robert Jech, Boris Keren, Jennifer Kussmann, Roger L. Ladda, Lisa A. Lansdon, Sebastian Lunke, Anne H. Mardy, Kirsty McWalters, Richard Person, Laura Raiti, Noriko Saitoh, Carol Saunders, Rhonda E. Schnur, Matěj Škorvánek, Susan L. Sell, Anne Slavotinek, Bonnie Sullivan, Zornitza Stark, Joseph D. Symonds, Tara Wenger, Sacha Weber, Sandra Whalen, Susan M. White, Juliane Winkelmann, Michael Zech, Shimriet Zeidler, Kazuhiro Maeshima, Rolf W. Stottmann, Paul A. Trainor, K. Nicole Weaver

    Publicado em 2023
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  4. 4
    Genomic answers for children: Dynamic analyses of >1000 pediatric rare disease genomes

    Genomic answers for children: Dynamic analyses of >1000 pediatric rare disease genomes por Ana S.A. Cohen, Emily Farrow, Ahmed Abdelmoity, Joseph T. Alaimo, Shivarajan Amudhavalli, John T. Anderson, Lalit Bansal, Lauren Bartik, Primo Baybayan, Bradley Belden, Courtney Berrios, Rebecca Biswell, Pawel Buczkowicz, Orion J. Buske, Shreyasee Chakraborty, Warren Cheung, Keith A. Coffman, Ashley M. Cooper, Laura Cross, Tom Curran, Thuy Tien T. Dang, Mary Elfrink, Kendra Engleman, Erin Fecske, Cynthia Fieser, Keely Fitzgerald, Emily Fleming, Randi Gadea, Jennifer Gannon, Rose Gelineau‐Morel, Margaret Gibson, Jeffrey A. Goldstein, Elin Grundberg, Kelsee Halpin, Brian S. Harvey, Bryce A. Heese, Wendy Hein, Suzanne Herd, Susan Hughes, Mohammed Ilyas, Jill D. Jacobson, Janda Jenkins, Jiang Shao, Jeffrey Johnston, Kathryn Keeler, Jonas Korlach, Jennifer Kussmann, Christine Lambert, Caitlin E. Lawson, Jean‐Baptiste Le Pichon, J. Steven Leeder, Vicki C. Little, Daniel Louiselle, Michael Lypka, Brittany McDonald, Neil Miller, Ann Modrcin, Annapoorna Nair, Shelby H. Neal, Christopher M. Oermann, Donna Pacicca, Kailash Pawar, Nyshele Posey, Nigel Price, Laura Puckett, Julio Quezada, Nikita Raje, William J. Rowell, Eric T. Rush, Venkatesh Sampath, Carol Saunders, Caitlin Schwager, Richard M. Schwend, Elizabeth Shaffer, Craig Smail, Sarah Soden, Meghan E. Strenk, Bonnie Sullivan, Brooke Sweeney, Jade Tam‐Williams, Adam M. Walter, Holly Welsh, Aaron M. Wenger, Laurel K. Willig, Yun Yan, Scott T. Younger, Dihong Zhou, Tricia Zion, Isabelle Thiffault, Tomi Pastinen

    Publicado em 2022
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  5. 5
    Rare deleterious mutations of HNRNP genes result in shared neurodevelopmental disorders

    Rare deleterious mutations of HNRNP genes result in shared neurodevelopmental disorders por Madelyn A. Gillentine, Tianyun Wang, Kendra Hoekzema, Jill A. Rosenfeld, Pengfei Liu, Hui Guo, Chang N. Kim, Bert B. A. De Vries, Lisenka E.L.M. Vissers, Magnus Nordenskjöld, Malin Kvarnung, Anna Lindstrand, Ann Nordgren, Jozef Gécz, Maria Iascone, Anna Cereda, Agnese Scatigno, Silvia Maitz, Ginevra Zanni, Enrico Bertini, Christiane Zweier, Sarah Schuhmann, Antje Wiesener, Micah Pepper, Heena Panjwani, Erin Torti, Farida Abid, Irina Anselm, Siddharth Srivastava, Paldeep S. Atwal, Carlos A. Bacino, Gifty Bhat, Katherine Cobian, Lynne M. Bird, Jennifer Friedman, Meredith S. Wright, Bert Callewaert, Florence Petit, Sophie Mathieu, Alexandra Afenjar, Celanie K. Christensen, Kerry White, Orly Elpeleg, Itai Berger, Edward J. Espineli, Christina Fagerberg, Charlotte Brasch‐Andersen, Lars Kjærsgaard Hansen, Timothy Feyma, Susan Hughes, Isabelle Thiffault, Bonnie Sullivan, Shuang Yan, Kory Keller, Boris Keren, Cyril Mignot, R. Frank Kooy, Marije Meuwissen, Alice Basinger, Mary K. Kukolich, Meredith Philips, Lucia Ortega, Margaret Drummond‐Borg, Mathilde Lauridsen, Kristina Sorensen, Anna Lehman, Elena Lopez‐Rangel, Paul A. Levy, Davor Lessel, Timothy Lotze, Suneeta Madan-Khetarpal, Jessica Sebastian, Jodie M. Vento, Divya Vats, L. Manace Benman, Shane McKee, Ghayda Mirzaa, Candace Muss, John Pappas, Hilde Peeters, Corrado Romano, Maurizio Elia, Ornella Galesi, Marleen Simon, Koen L.I. van Gassen, Kara Simpson, Robert F. Stratton, Shakir Syed, Julien Thévenon, Irene Valenzuela, Antonio Vitobello, Marie Bournez, Laurence Faivre, Kun Xia, John Acampado, J. Andrea, Alpha Amatya, Irina Astrovskaya, Asif Bashar, Elizabeth Brooks

    Publicado em 2021
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