Search Results - Sarah E. Sheppard

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  1. 1
    Kaposiform lymphangiomatosis effectively treated with <scp>MEK</scp> inhibition

    Kaposiform lymphangiomatosis effectively treated with <scp>MEK</scp> inhibition by Jessica Foster, Dong Li, Michael March, Sarah E. Sheppard, Denise M. Adams, Hákon Hákonarson, Yoav Dori

    Published 2020
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  2. 2
    Central conducting lymphatic anomaly: from bench to bedside

    Central conducting lymphatic anomaly: from bench to bedside by Luciana Daniela Garlisi Torales, Benjamin A Sempowski, Georgia L. Krikorian, Kristina M. Woodis, Scott M. Paulissen, Christopher L. Smith, Sarah E. Sheppard

    Published 2024
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  3. 3
    Lymphatic disorders caused by mosaic, activating KRAS variants respond to MEK inhibition

    Lymphatic disorders caused by mosaic, activating KRAS variants respond to MEK inhibition by Sarah E. Sheppard, Michael March, Christoph Seiler, Leticia S. Matsuoka, S Kim, Charlly Kao, Adam I. Rubin, Mark R. Battig, Nahla Khalek, Erica Schindewolf, Nora O’Connor, Erin Pinto, Jessica Priestley, Victoria R. Sanders, Rojeen Niazi, Arupa Ganguly, Cuiping Hou, Diana J. Slater, Ilona J. Frieden, Thy Huynh, Joseph T.C. Shieh, Ian D. Krantz, Jessenia Guerrero, Lea F. Surrey, David M. Biko, Pablo Laje, Leslie Castelo‐Soccio, Taizo A. Nakano, Kristen Snyder, Christopher L. Smith, Dong Li, Yoav Dori, Hákon Hákonarson

    Published 2023
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  4. 4
    What is new with 22q? An update from the 22q and You Center at the Children's Hospital of Philadelphia

    What is new with 22q? An update from the 22q and You Center at the Children's Hospital of Philadelphia by Ian M. Campbell, Sarah E. Sheppard, T. Blaine Crowley, Daniel E. McGinn, Alice Bailey, Michael J. McGinn, Marta Unolt, Jelle F. Homans, Erin Chen, Harold I. Salmons, J. William Gaynor, Elizabeth Goldmuntz, Oksana A. Jackson, Lorraine E. Levitt Katz, Maria R. Mascarenhas, Vincent F. Deeney, René M. Castelein, Karen B. Zur, Lisa M. Elden, Staci Kallish, Thomas F. Kolon, Sarah Hopkins, Madeline Chadehumbe, Michele P. Lambert, Brian J. Forbes, Julie S. Moldenhauer, Erica Schindewolf, Cynthia Solot, Edward Moss, Raquel E. Gur, Kathleen E. Sullivan, Beverly S. Emanuel, Elaine H. Zackai, Donna M. McDonald‐McGinn

    Published 2018
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  5. 5
    Genomic profiling informs diagnoses and treatment in vascular anomalies

    Genomic profiling informs diagnoses and treatment in vascular anomalies by Dong Li, Sarah E. Sheppard, Michael March, Mark R. Battig, Lea F. Surrey, Abhay Srinivasan, Leticia S. Matsuoka, Lifeng Tian, Fengxiang Wang, Christoph Seiler, Jill Dayneka, Alexandra J. Borst, Mary C. Matos, Scott M. Paulissen, Ganesh Krishnamurthy, Bede N. Nriagu, Tamjeed Sikder, Melissa Casey, Lydia Williams, Sneha Rangu, Nora O’Connor, Alexandria Thomas, Erin Pinto, Cuiping Hou, Kenny Nguyen, Renata Pellegrino da Silva, Samar Nasser Chehimi, Charlly Kao, Lauren Biroc, Allison Britt, Maria Queenan, Janet R. Reid, Joseph A. Napoli, D.M. Low, Seth Vatsky, James R. Treat, Christopher L. Smith, Anne Marie Cahill, Kristen Snyder, Denise M. Adams, Yoav Dori, Hákon Hákonarson

    Published 2023
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  6. 6
    Genomic and phenotypic characterization of 404 individuals with neurodevelopmental disorders caused by CTNNB1 variants

    Genomic and phenotypic characterization of 404 individuals with neurodevelopmental disorders caused by CTNNB1 variants by Sayaka Kayumi, Luis A. Pérez‐Jurado, María Palomares‐Bralo, Sneha Rangu, Sarah E. Sheppard, Wendy K. Chung, Michael C. Kruer, Mira Kharbanda, David J. Amor, George McGillivray, Julie S. Cohen, Sixto García‐Miñaúr, Clare L. van Eyk, Kelly Harper, Lachlan A. Jolly, Dani L. Webber, Christopher Barnett, Fernando Santos‐Simarro, Marta Pacio‐Míguez, Ángela del Pozo, Somayeh Bakhtiari, Matthew A. Deardorff, Holly Dubbs, Kosuke Izumi, Katheryn Grand, Christopher Gray, Paul R. Mark, Elizabeth Bhoj, Dong Li, Xilma R. Ortiz‐González, Beth Keena, Elaine H. Zackai, Ethan M. Goldberg, Guiomar Pérez de Nanclares, Arrate Pereda, Isabel Llano‐Rivas, Ignacio Arroyo, María Ángeles Fernández-Cuesta, Christel Thauvin‐Robinet, Laurence Faivre, Aurore Garde, Benoît Mazel, Ange‐Line Bruel, Michael L. Tress, Eva H. Brilstra, Amena Smith Fine, Kylie Crompton, Alexander P.A. Stegmann, Margje Sinnema, Servi J.C. Stevens, Joost Nicolai, Gaëtan Lesca, Laurence Lion‐François, Damien Haye, Nicolas Chatron, Amélie Piton, Mathilde Nizon, Benjamin Cogné, Siddharth Srivastava, Jennifer A. Bassetti, Candace Muss, Karen W. Gripp, Rebecca Procopio, Francisca Millan, Michelle M. Morrow, Melissa Assaf, Andrés Moreno-De-Luca, Shelagh Joss, Mark Hamilton, M. Bertoli, Nicola Foulds, Shane McKee, Alastair H. MacLennan, Jozef Gécz, Mark Corbett

    Published 2022
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  7. 7
    Expanding the genotypic and phenotypic spectrum in a diverse cohort of 104 individuals with Wiedemann‐Steiner syndrome

    Expanding the genotypic and phenotypic spectrum in a diverse cohort of 104 individuals with Wiedemann‐Steiner syndrome by Sarah E. Sheppard, Ian M. Campbell, Margaret Harr, Nina B. Gold, Dong Li, Hans T. Björnsson, Julie S. Cohen, Jill A. Fahrner, Ali Fatemi, Jacqueline Harris, C. Nowak, Cathy A. Stevens, Katheryn Grand, Margaret Au, John M. Graham, Pedro A. Sanchez‐Lara, Miguel Del Campo, Marilyn C. Jones, Omar Abdul‐Rahman, Fowzan S. Alkuraya, Jennifer A. Bassetti, Katherine Bergstrom, Elizabeth Bhoj, Sarah Dugan, Julie Kaplan, Nada Derar, Karen W. Gripp, Natalie Hauser, A. Micheil Innes, Beth Keena, Neslida Kodra, Rebecca L. Miller, Beverly Nelson, Małgorzata J.M. Nowaczyk, Zuhair Rahbeeni, Shay Ben‐Shachar, Joseph T.C. Shieh, Anne Slavotinek, Andrew K. Sobering, Mary‐Alice Abbott, Dawn C. Allain, Louise Amlie‐Wolf, Ping Yee Billie Au, Emma Bedoukian, Geoffrey Beek, James S. Barry, Janet Berg, Jonathan A. Bernstein, Cheryl Cytrynbaum, Brian Hon‐Yin Chung, Sarah Donoghue, Naghmeh Dorrani, Alison Eaton, Josue A. Flores‐Daboub, Holly Dubbs, Carolyn A. Felix, Chin‐To Fong, Jasmine Lee Fong Fung, Balram Gangaram, Amy Goldstein, Rotem Greenberg, Thoa K. Ha, Joseph H. Hersh, Kosuke Izumi, Staci Kallish, Elijah Kravets, Pui‐Yan Kwok, Rebekah Jobling, Amy E. Knight Johnson, Jessica D. Kushner, Bo Hoon Lee, Brooke Levin, Kristin Lindstrom, Kandamurugu Manickam, Rebecca Mardach, Elizabeth M. McCormick, D. Ross McLeod, Frank Mentch, Kelly Q. Minks, Colleen Muraresku, Stanley F. Nelson, Patrizia Porazzi, Pavel N. Pichurin, Nina Powell‐Hamilton, Zöe Powis, Alyssa Ritter, Caleb Rogers, Luis Rohena, Carey Ronspies, Audrey Schroeder, Zornitza Stark, Lois J. Starr, Joan M. Stoler, Pim Suwannarat, Milen Velinov, Rosanna Weksberg, Yael Wilnai, Neda Zadeh, Dina J. Zand, Marni J. Falk

    Published 2021
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