检索结果 - Emma Bedoukian

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  1. 1
    Outcomes of evaluation and testing of 660 individuals with hearing loss in a pediatric genetics of hearing loss clinic

    Outcomes of evaluation and testing of 660 individuals with hearing loss in a pediatric genetics of hearing loss clinic 由 Devanshi Mehta, Sarah E. Noon, E Schwartz, Alisha Wilkens, Emma Bedoukian, Irene Scarano, E. Bryan Crenshaw, Ian D. Krantz

    出版 2016
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  2. 2
    Copy-number variation is an important contributor to the genetic causality of inherited retinal degenerations

    Copy-number variation is an important contributor to the genetic causality of inherited retinal degenerations 由 Kinga M. Bujakowska, Rosario Fernández‐Godino, Emily Place, Mark Consugar, Daniel Navarro-Gomez, Joseph White, Emma Bedoukian, Xiaosong Zhu, Hongbo Xie, Xiaowu Gai, Bart P. Leroy, Eric A. Pierce

    出版 2016
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  3. 3
    SLC12A2 variants cause a neurodevelopmental disorder or cochleovestibular defect

    SLC12A2 variants cause a neurodevelopmental disorder or cochleovestibular defect 由 Alisdair McNeill, Emanuela Iovino, Luke Mansard, Christel Vaché, David Baux, Emma Bedoukian, Helen Cox, John Dean, David Goudie, Ajith Kumar, Ruth Newbury‐Ecob, Chiara Fallerini, Alessandra Renieri, Diego Lopergolo, Francesca Mari, Catherine Blanchet, Marjolaine Willems, Anne‐Françoise Roux, Tommaso Pippucci, Eric Delpire

    出版 2020
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  4. 4
    Phenotype of CM-AVM2 caused by variants in EPHB4: how much overlap with hereditary hemorrhagic telangiectasia (HHT)?

    Phenotype of CM-AVM2 caused by variants in EPHB4: how much overlap with hereditary hemorrhagic telangiectasia (HHT)? 由 Whitney Wooderchak‐Donahue, Gülsen Akay, Kevin J. Whitehead, Eric Briggs, David A. Stevenson, Brendan O’Fallon, Matthew Velinder, Andrew Farrell, Wei Shen, Emma Bedoukian, Cara M. Skrabann, Richard J. Antaya, Kate Henderson, Jeffrey Pollak, James R. Treat, Ronald W. Day, Joseph E. Jacher, Mark C. Hannibal, Kelly Bontempo, Gábor Marth, Pınar Bayrak‐Toydemir, Jamie McDonald

    出版 2019
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  5. 5
    Automated Clinical Exome Reanalysis Reveals Novel Diagnoses

    Automated Clinical Exome Reanalysis Reveals Novel Diagnoses 由 Samuel W. Baker, Jill R. Murrell, Addie I. Nesbitt, Kieran B. Pechter, Jorune Balciuniene, Xiaonan Zhao, Zhenming Yu, Elizabeth Denenberg, Elizabeth T. DeChene, Alisha Wilkens, Elizabeth Bhoj, Qiaoning Guan, Matthew C. Dulik, Laura K. Conlin, Ahmad Abou Tayoun, Minjie Luo, Chao Wu, Kajia Cao, Mahdi Sarmady, Emma Bedoukian, Jennifer Tarpinian, Līvija Medne, Cara Skraban, Matthew A. Deardorff, Ian D. Krantz, Bryan L. Krock, Avni Santani

    出版 2018
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  6. 6
    Loss-of-Function Variants in PPP1R12A: From Isolated Sex Reversal to Holoprosencephaly Spectrum and Urogenital Malformations

    Loss-of-Function Variants in PPP1R12A: From Isolated Sex Reversal to Holoprosencephaly Spectrum and Urogenital Malformations 由 Joel J. Hughes, Ebba Alkhunaizi, Paul Kruszka, Louise C. Pyle, Dorothy K. Grange, Seth Berger, Katelyn Payne, Diane Masser‐Frye, Tommy Hu, Michelle R. Christie, Nancy J. Clegg, Joshua L. Everson, Ariel F. Martinez, Laurence E. Walsh, Emma Bedoukian, Marilyn C. Jones, Catharine Harris, Korbinian M. Riedhammer, Daniela Choukair, Patricia Y. Fechner, Meilan M. Rutter, Sophia B. Hufnagel, Maian Roifman, Gad B. Kletter, Emmanuèle C. Délot, Éric Vilain, Robert J. Lipinski, Chad M. Vezina, Maximilian Muenke, David Chitayat

    出版 2019
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  7. 7
    Recommendations for the integration of genomics into clinical practice

    Recommendations for the integration of genomics into clinical practice 由 Sarah Bowdin, A Gilbert, Emma Bedoukian, Christopher Carew, Margaret P Adam, John W. Belmont, Barbara A. Bernhardt, Leslie G. Biesecker, Hans T. Björnsson, Miriam G. Blitzer, Lisa C.A. D’Alessandro, Matthew A. Deardorff, Laurie Demmer, Alison M. Elliott, Gerald L. Feldman, Ian Glass, Gail E. Herman, Lucia A. Hindorff, Fuki M. Hisama, Louanne Hudgins, A. Micheil Innes, Laird Jackson, Gail P. Jarvik, Raymond H. Kim, Bruce R. Korf, David H. Ledbetter, Mindy Li, Eriskay Liston, Christian R. Marshall, Līvija Medne, M. Stephen Meyn, Nasim Monfared, Cynthia C. Morton, John J. Mulvihill, Sharon E. Plon, Heidi L. Rehm, Amy E. Roberts, Cheryl Shuman, Nancy B. Spinner, Dimitri J. Stavropoulos, Kathleen Valverde, Darrel Waggoner, Alisha Wilkens, Ronald D. Cohn, Ian D. Krantz

    出版 2016
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  8. 8
    Further delineation of the clinical spectrum of KAT6B disorders and allelic series of pathogenic variants

    Further delineation of the clinical spectrum of KAT6B disorders and allelic series of pathogenic variants 由 Li Xin Zhang, Gabrielle Lemire, Claudia Gonzaga‐Jauregui, Sirinart Molidperee, Carolina Galaz-Montoya, David S. Liu, Alain Verloès, Amelle Shillington, Kosuke Izumi, Alyssa Ritter, Beth Keena, Elaine H. Zackai, Dong Li, Elizabeth Bhoj, Jennifer Tarpinian, Emma Bedoukian, Mary K. Kukolich, A. Micheil Innes, Grace U. Ediae, Sarah L. Sawyer, Karippoth Mohandas Nair, Para Chottil Soumya, Kinattinkara R. Subbaraman, Frank J. Probst, Jennifer A. Bassetti, Reid Sutton, Richard A. Gibbs, Chester Brown, Philip M. Boone, Ingrid A. Holm, Marco Tartaglia, Giovanni Battista Ferrero, Marcello Niceta, Maria Lisa Dentici, Francesca Clementina Radio, Boris Keren, Constance Wells, Christine Coubes, Annie Laquerrière, Jacqueline Aziza, Charlotte Dubucs, Sheela Nampoothiri, David Mowat, Millan S. Patel, Ana Bracho, Francisco Cammarata‐Scalisi, Alper Gezdirici, Alberto Fernández‐Jaén, Natalie Hauser, Yuri A. Zárate, Katherine A. Bosanko, Klaus Dieterich, John C. Carey, Jessica X. Chong, Deborah A. Nickerson, Michael J. Bamshad, Brendan Lee, Xiang-Jiao Yang, James R. Lupski, Philippe M. Campeau

    出版 2020
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  9. 9
    Missense Variants in the Histone Acetyltransferase Complex Component Gene TRRAP Cause Autism and Syndromic Intellectual Disability

    Missense Variants in the Histone Acetyltransferase Complex Component Gene TRRAP Cause Autism and Syndromic Intellectual Disability 由 Benjamin Cogné, Sophie Ehresmann, Éliane Beauregard‐Lacroix, Justine Rousseau, Thomas Besnard, Thomas X. Garcia, Slavé Petrovski, Shiri Avni, Kirsty McWalter, Patrick R. Blackburn, Stephan Sanders, Kévin Uguen, Jacqueline Harris, Julie S. Cohen, Moira Blyth, Anna Lehman, Jonathan Berg, Mindy Li, Usha Kini, Shelagh Joss, Charlotte von der Lippe, Christopher T. Gordon, Jennifer Humberson, Laurie Robak, Daryl A. Scott, V. Reid Sutton, Cara Skraban, Jennifer J. Johnston, Annapurna Poduri, Magnus Nordenskjöld, Vandana Shashi, Erica H. Gerkes, Ernie M.H.F. Bongers, Christian Gilissen, Yuri A. Zárate, Malin Kvarnung, Kevin P. Lally, Peggy Kulch, Brina Daniels, Andrés Hernández, Nicholas Stong, Julie McGaughran, Kyle Retterer, Kristian Tveten, Jennifer A. Sullivan, Madeleine R. Geisheker, Asbjørg Stray‐Pedersen, Jennifer Tarpinian, Eric W. Klee, Julie C. Sapp, Jacob Zyskind, Øystein L. Holla, Emma Bedoukian, Francesca Filippini, Anne Guimier, Arnaud Picard, Øyvind L. Busk, Jaya Punetha, Rolph Pfundt, Anna Lindstrand, Ann Nordgren, Fayth M. Kalb, Megha Desai, Ashley H. Ebanks, Shalini N. Jhangiani, Tammie Dewan, Zeynep Coban‐Akdemir, Aida Telegrafi, Elaine H. Zackai, Amber Begtrup, Xiaofei Song, Annick Toutain, Ingrid M. Wentzensen, Sylvie Odent, Dominique Bonneau, Xénia Latypova, Wallid Deb, Sylvia Redon, Frédéric Bilan, Marine Legendre, Caitlin Troyer, Kerri Whitlock, Oana Caluseriu, Marine I. Murphree, Pavel N. Pichurin, Katherine Agre, Ralitza H. Gavrilova, Tuula Rinne, Meredith Park, Catherine Shain, Erin L. Heinzen, Rui Xiao, Jeanne Amiel, Stanislas Lyonnet, Bertrand Isidor, Leslie G. Biesecker, Dan Lowenstein, Jennifer E. Posey, Anne‐Sophie Denommé‐Pichon, Claude Férec

    出版 2019
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  10. 10
    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 由 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

    出版 2021
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  11. 11
    Menke-Hennekam syndrome; delineation of domain-specific subtypes with distinct clinical and DNA methylation profiles

    Menke-Hennekam syndrome; delineation of domain-specific subtypes with distinct clinical and DNA methylation profiles 由 Sadegheh Haghshenas, Hidde J. Bout, Josephine Schijns, Michael A. Levy, Jennifer Kerkhof, Pratibha Bhai, Haley McConkey, Zandra A. Jenkins, Ella M. Williams, Benjamin J. Halliday, Sylvia Huisman, Peter Lauffer, Vivian de Waard, Laura Witteveen, Siddharth Banka, Angela F. Brady, Elena Galazzi, Julien Van‐Gils, Anna Hurst, Frank J. Kaiser, Didier Lacombe, Antonio Federico Martínez‐Monseny, Patricia Fergelot, Fabíola Paoli Monteiro, Ilaria Parenti, Luca Persani, Fernando Santos‐Simarro, Brittany Simpson, Andrea Angius, Janice Baker, Emma Bedoukian, Vikas Bhambhani, Olaf A. Bodamer, Alan O’Brien, Jill Clayton‐Smith, Laura Crisponi, Anna M. Cueto‐González, the DDD study, Koenraad Devriendt, Elena Garrido, Nadja Ehmke, Albertien M. van Eerde, Annette P.M. van den Elzen, Laurence Faivre, Laura J. Fisher, Josue Flores-Daboub, Alison Foster, Jennifer Friedman, Elisabeth Gabau, Elena Galazzi, Sixto García‐Miñaúr, Livia Garavelli, Thatjana Gardeitchik, Erica H. Gerkes, Julien Van‐Gils, Jacques C. Giltay, Aixa Gonzalez Garcia, Ketil Heimdal, Denise Horn, Gunnar Houge, Sophia B. Hufnagel, Denisa Ilenčíková, Sophie Julia, Sarina G. Kant, Esther Kinning, Eric W. Klee, Chelsea Kois, M. Kovacevic, A.M.A. Lachmeijer, Brendan C. Lanpher, Marine Lebrun, Eyby Leon, Angie Lichty, Ruth Lin, Isabel Llano‐Rivas, Sally Ann Lynch, Saskia M. Maas, Silvia Maitz, Shane McKee, Daniela Melis, Elisabetta Merati, Giuseppe Merla, Ruth Newbury‐Ecob, Mathilde Nizon, Soo-Mi Park, Jennifer Patterson, Florence Petit, Hilde Peeters, Luca Persani, Ivana Persico, Valentina Pes, Marzia Pollazzon, Thomas P. Potjer, Lorraine Potocki, Carrie Pottinger, Chitra Prasad, Eloise J. Prijoles, Nicola Ragge, Jan Peter Rake, Conny M.A. van Ravenswaaij‐Arts

    出版 2024
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