Ohcanbohtosat - Tatiana Tvrdik

  • Čájehuvvo 1 - 9 / 9
Aiddostahte ozu
  1. 1
    Sequencing analysis of insulin receptor defects and detection of two novel mutations in INSR gene

    Sequencing analysis of insulin receptor defects and detection of two novel mutations in INSR gene Dahkki Orly Ardon, Melinda Procter, Tatiana Tvrdik, N. Longo, Rong Mao

    Almmustuhtton 2014
    Viečča ollesdeavstta
    Artigo
    Lasit oiddohiidda
    Furkejuvvon:
  2. 2
    Clinical Validation and Diagnostic Utility of Optical Genome Mapping for Enhanced Cytogenomic Analysis of Hematological Neoplasms

    Clinical Validation and Diagnostic Utility of Optical Genome Mapping for Enhanced Cytogenomic Analysis of Hematological Neoplasms Dahkki Nikhil Sahajpal, Ashis K. Mondal, Tatiana Tvrdik, Jennifer Hauenstein, Huidong Shi, Kristin K. Deeb, Debra Saxe, Alex Hastie, Alka Chaubey, Natasha M. Savage, Vamsi Kota, Ravindra Kolhe

    Almmustuhtton 2022
    Viečča ollesdeavstta Viečča ollesdeavstta
    Artigo
    Lasit oiddohiidda
    Furkejuvvon:
  3. 3
    Pathogenic <i>ASXL1</i> somatic variants in reference databases complicate germline variant interpretation for Bohring-Opitz Syndrome

    Pathogenic <i>ASXL1</i> somatic variants in reference databases complicate germline variant interpretation for Bohring-Opitz Syndrome Dahkki Colleen M. Carlston, Anne O’Donnell‐Luria, Hunter R. Underhill, Beryl B. Cummings, Ben Weisburd, Eric Vallabh Minikel, Daniel P. Birnbaum, Tatiana Tvrdik, Daniel G. MacArthur, Rong Mao

    Almmustuhtton 2017
    Viečča ollesdeavstta
    Revisão
    Lasit oiddohiidda
    Furkejuvvon:
  4. 4
    Effective variant filtering and expected candidate variant yield in studies of rare human disease

    Effective variant filtering and expected candidate variant yield in studies of rare human disease Dahkki Brent S. Pedersen, Joe Brown, Harriet Dashnow, Amelia D. Wallace, Matt Velinder, Martin Tristani‐Firouzi, Joshua D. Schiffman, Tatiana Tvrdik, Rong Mao, D. Hunter Best, Pınar Bayrak‐Toydemir, Aaron R. Quinlan

    Almmustuhtton 2021
    Viečča ollesdeavstta Viečča ollesdeavstta
    Artigo
    Lasit oiddohiidda
    Furkejuvvon:
  5. 5
    Targeted gene panel sequencing for the rapid diagnosis of acutely ill infants

    Targeted gene panel sequencing for the rapid diagnosis of acutely ill infants Dahkki Luca Brunelli, Sabrina Malone Jenkins, James M. Gudgeon, Steven B. Bleyl, Christine E. Miller, Tatiana Tvrdik, Shale Dames, Betsy Ostrander, Josue A. Flores‐Daboub, Brandon A. Zielinski, Erin K. Zinkhan, Hunter R. Underhill, Theodore E. Wilson, Joshua L. Bonkowsky, Christian C. Yost, Lorenzo D. Botto, Justin Jenkins, Theodore J. Pysher, Pınar Bayrak‐Toydemir, Rong Mao

    Almmustuhtton 2019
    Viečča ollesdeavstta Viečča ollesdeavstta
    Artigo
    Lasit oiddohiidda
    Furkejuvvon:
  6. 6
    Clinical utility of a next generation sequencing panel assay for Marfan and Marfan‐like syndromes featuring aortopathy

    Clinical utility of a next generation sequencing panel assay for Marfan and Marfan‐like syndromes featuring aortopathy Dahkki Whitney Wooderchak‐Donahue, Chad VanSant‐Webb, Tatiana Tvrdik, Parker Plant, Tracey Lewis, Jennifer Stocks, Joshua A. Raney, Lindsay Meyers, Alizabeth E. Berg, Alan F. Rope, Anji T. Yetman, Steven B. Bleyl, Rebecca Mesley, David A. Bull, R. Thomas Collins, Mayra Martinez Ojeda, Amy E. Roberts, Ronald V. Lacro, Audrey C. Woerner, Joan M. Stoler, Pınar Bayrak‐Toydemir

    Almmustuhtton 2015
    Viečča ollesdeavstta Viečča ollesdeavstta
    Artigo
    Lasit oiddohiidda
    Furkejuvvon:
  7. 7
    ZMIZ1 Variants Cause a Syndromic Neurodevelopmental Disorder

    ZMIZ1 Variants Cause a Syndromic Neurodevelopmental Disorder Dahkki Raphaël Carapito, Ekaterina L. Ivanova, Aurore Morlon, Linyan Meng, Anne Molitor, Éva Erdmann, Bruno Kieffer, Angélique Pichot, Lydie Naegely, Aline Kolmer, Nicodème Paul, Antoine Hanauer, Frédéric Tran Mau‐Them, Nolwenn Jean‐Marçais, Susan M. Hiatt, Gregory M. Cooper, Tatiana Tvrdik, Alison M. Muir, Clémantine Dimartino, Maya Chopra, Jeanne Amiel, Christopher T. Gordon, Fabien Dutreux, Aurore Garde, Christel Thauvin‐Robinet, Xia Wang, Magalie S. Leduc, Meredith Phillips, Heather P. Crawford, Mary K. Kukolich, David Hunt, Victoria Harrison, Mira Kharbanda, Robert Śmigiel, Nina B. Gold, Christina Hung, David Viskochil, Sarah Dugan, Pınar Bayrak‐Toydemir, Géraldine Joly‐Helas, Anne‐Marie Guerrot, Caroline Schluth–Bolard, Marlène Rio, Ingrid M. Wentzensen, Kirsty McWalter, Rhonda E. Schnur, Andrea M. Lewis, Seema R. Lalani, Noël Mensah-Bonsu, Jocelyn Céraline, Zijie Sun, Rafał Płoski, Carlos A. Bacino, Heather C. Mefford, Laurence Faivre, Olaf A. Bodamer, Jamel Chelly, Bertrand Isidor, Seiamak Bahram

    Almmustuhtton 2019
    Viečča ollesdeavstta Viečča ollesdeavstta
    Artigo
    Lasit oiddohiidda
    Furkejuvvon:
  8. 8
    BCL11A intellectual developmental disorder: defining the clinical spectrum and genotype-phenotype correlations

    BCL11A intellectual developmental disorder: defining the clinical spectrum and genotype-phenotype correlations Dahkki Angela Peron, Felice D’Arco, Kimberly A. Aldinger, Constance Smith‐Hicks, Christiane Zweier, Gyri Aasland Gradek, Kimberley Bradbury, Andrea Accogli, Erica Andersen, Ping Yee Billie Au, Roberta Battini, Daniah Beleford, Lynne M. Bird, Arjan Bouman, Ange‐Line Bruel, Øyvind L. Busk, Philippe M. Campeau, Valeria Capra, Colleen M. Carlston, Jenny Carmichael, Anna Chassevent, Jill Clayton‐Smith, Michael J. Bamshad, Dawn Earl, Laurence Faivre, Christophe Philippe, Patrick Ferreira, Luitgard Graul‐Neumann, Mary J. Green, Darrah Haffner, Parthiv Haldipur, Suhair Hanna, Gunnar Houge, Wendy D. Jones, Cornelia Kraus, Birgit Elisabeth Kristiansen, James Lespinasse, Karen Low, Sally Ann Lynch, Sofia Maia, Rong Mao, Ruta Kalinauskiene, Catherine Melver, Kimberly S. McDonald, Tara Montgomery, Manuela Morleo, Constance Motter, Amanda Openshaw, Janice C. Palumbos, Aditi Shah Parikh, Yezmin Perilla‐Young, Cynthia M. Powell, Richard Person, Megha Desai, Juliette Piard, Rolph Pfundt, Marcello Scala, Margaux Serey‐Gaut, Deborah Shears, Anne Slavotinek, Mohnish Suri, Claire Turner, Tatiana Tvrdik, Karin Weiss, Ingrid M. Wentzensen, Marcella Zollino, Tzung‐Chien Hsieh, Keri Ramsey, Angela Peron, Andrea Accogli, Valeria Capra, Manuela Morleo, Marcello Scala, Marcella Zollino, Bert B.A. de Vries, François Guillemot, William B. Dobyns, David Viskochil, Cristina Dias

    Almmustuhtton 2024
    Viečča ollesdeavstta
    Artigo
    Lasit oiddohiidda
    Furkejuvvon:
  9. 9
    De Novo Pathogenic Variants in CACNA1E Cause Developmental and Epileptic Encephalopathy with Contractures, Macrocephaly, and Dyskinesias

    De Novo Pathogenic Variants in CACNA1E Cause Developmental and Epileptic Encephalopathy with Contractures, Macrocephaly, and Dyskinesias Dahkki Katherine L. Helbig, Robert J. Lauerer, Jacqueline C Bahr, Ivana A. Souza, Candace T. Myers, Betül Seher Uysal, Niklas Schwarz, María A. Gandini, Sun Huang, Boris Keren, Cyril Mignot, Alexandra Afenjar, Thierry Billette de Villemeur, Delphine Héron, Caroline Nava, Stéphanie Valence, Julien Buratti, Christina Fagerberg, Kristina P. Soerensen, Maria Kibæk, Erik‐Jan Kamsteeg, David A. Koolen, Boudewijn Gunning, Helenius J. Schelhaas, Michael C. Kruer, Jordana Fox, Somayeh Bakhtiari, Randa Jarrar, Sergio Padilla-López, Kristin Lindstrom, Sheng Chih Jin, Xue Zeng, Kaya Bilgüvar, Antigone Papavasileiou, Qinghe Xing, Changlian Zhu, Katja Boysen, Filippo Pinto e Vairo, Brendan C. Lanpher, Eric W. Klee, Jan‐Mendelt Tillema, Eric T. Payne, Margot A. Cousin, Teresa Kruisselbrink, Myra J. Wick, Joshua Baker, Eric Haan, Nicholas Smith, Azita Sadeghpour, Erica E. Davis, Nicholas Katsanis, Mark Corbett, Alastair H. MacLennan, Jozef Gécz, Saskia Biskup, Eva Goldmann, Lance H. Rodan, Elizabeth Kichula, Eric Segal, Kelly E. Jackson, Alexander Asamoah, David Dimmock, Julie McCarrier, Lorenzo D. Botto, Francis Filloux, Tatiana Tvrdik, Gregory D. Cascino, Sherry Klingerman, Catherine M. Neumann, Raymond Wang, Jessie C. Jacobsen, Melinda Nolan, Russell G. Snell, Klaus Lehnert, Lynette G. Sadleir, Britt‐Marie Anderlid, Malin Kvarnung, Renzo Guerrini, Michael J. Friez, Michael J. Lyons, Jennifer Leonhard, Gabriel Kringlen, Kari Casas, Christelle Moufawad El Achkar, Lacey Smith, Alexander Rotenberg, Annapurna Poduri, Alba Sanchis‐Juan, Keren Carss, Julia Rankin, Adam Zeman, F. Lucy Raymond, Moira Blyth, Bronwyn Kerr, Karla Ruiz, Jill Urquhart, Imelda Hughes, Siddharth Banka, Ulrike B. S. Hedrich, Ingrid E. Scheffer

    Almmustuhtton 2018
    Viečča ollesdeavstta Viečča ollesdeavstta
    Artigo
    Lasit oiddohiidda
    Furkejuvvon:

Ohcanreaiddut: