Bilaketaren emaitzak - Katie Golden‐Grant

  • Erakusten 1 - 7 emaitzak -- 7
Findu emaitzak
  1. 1
    TANGO2: expanding the clinical phenotype and spectrum of pathogenic variants

    TANGO2: expanding the clinical phenotype and spectrum of pathogenic variants nork Jennifer N. Dines, Katie Golden‐Grant, Amy Lacroix, Alison M. Muir, Dianne Laboy Cintrón, Kirsty McWalter, Megan T. Cho, Angela Sun, J. Lawrence Merritt, Jenny Thies, Dmitriy Niyazov, Barbara K. Burton, Katherine Kim, Leah R. Fleming, Rachel Westman, Peter Karachunski, Joline Dalton, Alice Basinger, Can Fıçıcıoğlu, Ingo Helbig, Manuela Pendziwiat, Hiltrud Muhle, Katherine L. Helbig, Almuth Caliebe, René Santer, Kolja Becker, Sharon F. Suchy, Ganka Douglas, Francisca Millan, Amber Begtrup, Kristin G. Monaghan, Heather C. Mefford

    Argitaratua 2018
    Testu osoa Testu osoa
    Artigo
    Gogokoenen artean sartu
    Gorde:
  2. 2
    Variant Classification Concordance using the ACMG-AMP Variant Interpretation Guidelines across Nine Genomic Implementation Research Studies

    Variant Classification Concordance using the ACMG-AMP Variant Interpretation Guidelines across Nine Genomic Implementation Research Studies nork Laura M. Amendola, Kathleen Muenzen, Leslie G. Biesecker, Kevin M. Bowling, Gregory M. Cooper, Michael O. Dorschner, Catherine C. Driscoll, Ann Katherine M. Foreman, Katie Golden‐Grant, John M. Greally, Lucia A. Hindorff, Dona Kanavy, Vaidehi Jobanputra, Jennifer J. Johnston, Eimear E. Kenny, Shannon McNulty, Priyanka Murali, Jeffrey Ou, Bradford C. Powell, Heidi L. Rehm, Bradley A. Rolf, Tamara S. Roman, Jessica Van Ziffle, Saurav Guha, Avinash Abhyankar, David R. Crosslin, Eric Venner, Bo Yuan, Hana Zouk, Gail P. Jarvik

    Argitaratua 2020
    Testu osoa
    Artigo
    Gogokoenen artean sartu
    Gorde:
  3. 3
    The ClinGen Syndromic Disorders Gene Curation Expert Panel: Assessing the Clinical Validity of 111 Gene-Disease Relationships

    The ClinGen Syndromic Disorders Gene Curation Expert Panel: Assessing the Clinical Validity of 111 Gene-Disease Relationships nork Eleanor C Broeren, Vanessa Gitau, Alicia B. Byrne, Pamela Ajuyah, Marie Balzotti, Jonathan S. Berg, Krista Bluske, B.M. Bowen, Matthew P. Brown, Amanda Buchanan, Brendan Burns, Nicole Burns, Anjana Chandrasekhar, Aditi Chawla, Jessica X. Chong, Maya Chopra, Amanda Clause, Marina T. DiStefano, Stephanie DiTroia, Marwa Elnagheeb, Anne Girod, Himanshu Goel, Katie Golden‐Grant, Thuong Ha, Ada Hamosh, Jennifer Huang, Madeline Y. Hughes, Saumya Shekhar Jamuar, Sylvia Kam, Akanchha Kesari, Ai Ling Koh, Rhonda N.T. Lassiter, S. E. A. Leigh, Gabrielle Lemire, Jiin Ying Lim, Alka Malhotra, Hannah McCurry, Becky Milewski, Shahida Moosa, Stephen A. Murray, Emma Owens, Elizabeth E. Palmer, Brooke Palus, Mayher Patel, Revathi Rajkumar, Julie Ratliff, F. Lucy Raymond, Bruno Della Ripa Rodrigues Assis, Samin A. Sajan, Zinayida Schlachetzki, Sarah Schmidt, Zornitza Stark, Strom P Samuel, Julie P. Taylor, Courtney Thaxton, Devon Lamb Thrush, Sabrina Toro, Kezang Tshering, Nicole Vasilevsky, Bess Wayburn, Ryan Webb, Anne O’Donnell‐Luria, Alison J. Coffey

    Argitaratua 2024
    Testu osoa
    Pré-impressão
    Gogokoenen artean sartu
    Gorde:
  4. 4
    The ClinGen Syndromic Disorders Gene Curation Expert Panel: Assessing the Clinical Validity of 111 Gene-Disease Relationships

    The ClinGen Syndromic Disorders Gene Curation Expert Panel: Assessing the Clinical Validity of 111 Gene-Disease Relationships nork Eleanor C Broeren, Vanessa Gitau, Alicia B. Byrne, Pamela Ajuyah, Marie Balzotti, Jonathan S. Berg, Krista Bluske, B.M. Bowen, Matthew P. Brown, Amanda Buchanan, Brendan Burns, Nicole Burns, Anjana Chandrasekhar, Aditi Chawla, Jessica X. Chong, Maya Chopra, Amanda Clause, Marina T. DiStefano, Stephanie DiTroia, Marwa Elnagheeb, Anne Girod, Himanshu Goel, Katie Golden‐Grant, Thuong Ha, Ada Hamosh, Jennifer M. Huang, Madeline Y. Hughes, Saumya Shekhar Jamuar, Sylvia Kam, Akanchha Kesari, Ai Ling Koh, Rhonda N.T. Lassiter, S. E. A. Leigh, Gabrielle Lemire, Jiin Ying Lim, Alka Malhotra, Hannah McCurry, Becky Milewski, Shahida Moosa, Stephen A. Murray, Emma Owens, Elizabeth E. Palmer, Brooke C. Palus, Mayher Patel, Revathi Rajkumar, Julie Ratliff, F. Lucy Raymond, Bruno Della Ripa Rodrigues Assis, Samin A. Sajan, Zinayida Schlachetzki, Sarah Schmidt, Zornitza Stark, Samuel P. Strom, Julie P. Taylor, Courtney Thaxton, Devon Lamb Thrush, Sabrina Toro, Kezang Tshering, Nicole Vasilevsky, Bess Wayburn, Ryan Webb, Anne O’Donnell‐Luria, Alison J. Coffey

    Argitaratua 2025
    Testu osoa
    Artigo
    Gogokoenen artean sartu
    Gorde:
  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 nork 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

    Argitaratua 2019
    Testu osoa Testu osoa
    Artigo
    Gogokoenen artean sartu
    Gorde:
  6. 6
    IRF2BPL Is Associated with Neurological Phenotypes

    IRF2BPL Is Associated with Neurological Phenotypes nork Paul C. Marcogliese, Vandana Shashi, Rebecca C. Spillmann, Nicholas Stong, Jill A. Rosenfeld, Mary Kay Koenig, Julián A. Martínez-Agosto, Matthew Herzog, Agnes H. Chen, Patricia Dickson, Henry J. Lin, Moin Vera, Noriko Salamon, John M. Graham, Damara Ortiz, Elena Infante, Wouter Steyaert, Bart Dermaut, Bruce Poppe, Hyunglok Chung, Zhongyuan Zuo, Pei-Tseng Lee, Oguz Kanca, Fan Xia, Yaping Yang, Edward C. Smith, Joan Jasien, Sujay Kansagra, Gail A. Spiridigliozzi, Mays El-Dairi, Robert K. Lark, Kacie Riley, Dwight D. Koeberl, Katie Golden‐Grant, Shinya Yamamoto, Michael F. Wangler, Ghayda Mirzaa, Dimitri Hemelsoet, Brendan Lee, Stanley F. Nelson, David B. Goldstein, Hugo J. Bellen, Loren D.M. Peña, Steven Callens, Paul Coucke, Bart Dermaut, Dimitri Hemelsoet, Bruce Poppe, Wouter Steyaert, Wim Terryn, Rudy Van Coster, David R. Adams, Mercedes E. Alejandro, Patrick Allard, Mahshid S. Azamian, Carlos A. Bacino, Ashok Balasubramanyam, Hayk Barseghyan, Gabriel F. Batzli, Alan H. Beggs, Babak Behnam, Anna Bican, David Bick, Camille L. Birch, Devon Bonner, Braden Boone, Bret L. Bostwick, Lauren C. Briere, Donna M. Brown, Matthew Brush, Elizabeth A. Burke, Lindsay C. Burrage, Shan Chen, Gary Clark, Terra R. Coakley, Joy D. Cogan, Cynthia M. Cooper, Heidi Cope, William J. Craigen, Precilla D’Souza, Mariska Davids, Jyoti G. Dayal, Esteban C. Dell’Angelica, Shweta U. Dhar, Ani Dillon, Katrina M. Dipple, Laurel A. Donnell‐Fink, Naghmeh Dorrani, Daniel C. Dorset, Emilie D. Douine, David D. Draper, David J. Eckstein, Lisa Emrick, Christine M. Eng, Ascia Eskin, Cecilia Esteves, Tyra Estwick, Carlos R. Ferreira, Brent L. Fogel, Noah D. Friedman

    Argitaratua 2018
    Testu osoa
    Artigo
    Gogokoenen artean sartu
    Gorde:
  7. 7
    LUSTR: a new customizable tool for calling genome-wide germline and somatic short tandem repeat variants

    LUSTR: a new customizable tool for calling genome-wide germline and somatic short tandem repeat variants nork Jinfeng Lü, Camilo Toro, David R. Adams, Maria T. Acosta, Margaret P Adam, Raquel L. Alvarez, Justin Alvey, Laura M. Amendola, Ashley Andrews, Euan A. Ashley, Carlos A. Bacino, Güney Bademci, Ashok Balasubramanyam, Dustin Baldridge, Jim Bale, Michael J. Bamshad, Deborah Barbouth, Pınar Bayrak‐Toydemir, Anita Beck, Alan H. Beggs, Edward M. Behrens, Gill Bejerano, Hugo J. Bellen, Jimmy Bennett, Beverly Berg-Rood, Jonathan A. Bernstein, Gerard T. Berry, Anna Bican, Stephanie Bivona, Elizabeth Blue, John Bohnsack, Devon Bonner, Lorenzo D. Botto, Brenna Boyd, Lauren C. Briere, Gabrielle Brown, Elizabeth A. Burke, Lindsay C. Burrage, Manish J. Butte, Peter H. Byers, William E. Byrd, John C. Carey, Olveen Carrasquillo, Thomas Cassini, Ta Chen Chang, Sirisak Chanprasert, Hsiao‐Tuan Chao, Iván K. Chinn, Gary Clark, Terra R. Coakley, Laurel A. Cobban, Joy D. Cogan, Matthew Coggins, F. Sessions Cole, Heather A. Colley, Heidi Cope, Rosario I. Corona, William J. Craigen, Andrew B. Crouse, Michael L. Cunningham, Precilla D’Souza, Hongzheng Dai, Surendra Dasari, Joie Davis, Jyoti G. Dayal, Esteban C. Dell’Angelica, Patricia Dickson, Katrina M. Dipple, Daniel Doherty, Naghmeh Dorrani, Argenia L. Doss, Emilie D. Douine, Dawn Earl, David J. Eckstein, Lisa Emrick, Christine M. Eng, Marni J. Falk, Elizabeth L. Fieg, Paul G. Fisher, Brent L. Fogel, Irman Forghani, William A. Gahl, I. S. Glass, Bernadette Gochuico, Pagé C. Goddard, Rena A. Godfrey, Katie Golden‐Grant, Alana Grajewski, Don Hadley, Sihoun Hahn, Meghan C. Halley, Rizwan Hamid, Kelly Hassey, Nichole Hayes, Frances A. High, Anne Hing, Fuki M. Hisama, Ingrid A. Holm, Jason Hom, Martha Horike‐Pyne

    Argitaratua 2024
    Testu osoa Testu osoa
    Artigo
    Gogokoenen artean sartu
    Gorde:

Bilaketa egiteko lanabesak: