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Diagnostics tests

  • Deletions and de novo mutations of SOX11 are associated with a neurodevelopmental disorder with features of Coffin–Siris syndrome
    Annmarie Hempel, Alistair T Pagnamenta, Moira Blyth, Sahar Mansour, Vivienne McConnell, Ikuyo Kou, Shiro Ikegawa, Yoshinori Tsurusaki, Naomichi Matsumoto, Adriana Lo-Castro, Ghislaine Plessis, Beate Albrecht, Agatino Battaglia, Jenny C Taylor, Malcolm F Howard, David Keays, Aman Singh Sohal, DDD collaboration, Susanne J Kühl, Usha Kini, Alisdair McNeill
    Journal of Medical Genetics Mar 2016, 53 (3) 152-162; DOI: 10.1136/jmedgenet-2015-103393
  • Improving diagnostic precision, care and syndrome definitions using comprehensive next-generation sequencing for the inherited bone marrow failure syndromes
    Ibrahim Ghemlas, Hongbing Li, Bozana Zlateska, Robert Klaassen, Conrad V Fernandez, Rochelle A Yanofsky, John Wu, Yves Pastore, Mariana Silva, Jeff H Lipton, Josee Brossard, Bruno Michon, Sharon Abish, MacGregor Steele, Roona Sinha, Mark Belletrutti, Vicky R Breakey, Lawrence Jardine, Lisa Goodyear, Lillian Sung, Santhosh Dhanraj, Emma Reble, Amanda Wagner, Joseph Beyene, Peter Ray, Stephen Meyn, Michaela Cada, Yigal Dror
    Journal of Medical Genetics Sep 2015, 52 (9) 575-584; DOI: 10.1136/jmedgenet-2015-103270
  • Characterising the spectrum of autosomal recessive hereditary hearing loss in Iran
    Christina M Sloan-Heggen, Mojgan Babanejad, Maryam Beheshtian, Allen C Simpson, Kevin T Booth, Fariba Ardalani, Kathy L Frees, Marzieh Mohseni, Reza Mozafari, Zohreh Mehrjoo, Leila Jamali, Saeideh Vaziri, Tara Akhtarkhavari, Niloofar Bazazzadegan, Nooshin Nikzat, Sanaz Arzhangi, Farahnaz Sabbagh, Hasan Otukesh, Seyed Morteza Seifati, Hossein Khodaei, Maryam Taghdiri, Nicole C Meyer, Ahmad Daneshi, Mohammad Farhadi, Kimia Kahrizi, Richard JH Smith, Hela Azaiez, Hossein Najmabadi
    Journal of Medical Genetics Dec 2015, 52 (12) 823-829; DOI: 10.1136/jmedgenet-2015-103389
  • A targeted next-generation sequencing assay for the molecular diagnosis of genetic disorders with orodental involvement
    Megana K Prasad, Véronique Geoffroy, Serge Vicaire, Bernard Jost, Michael Dumas, Stéphanie Le Gras, Marzena Switala, Barbara Gasse, Virginie Laugel-Haushalter, Marie Paschaki, Bruno Leheup, Dominique Droz, Amelie Dalstein, Adeline Loing, Bruno Grollemund, Michèle Muller-Bolla, Séréna Lopez-Cazaux, Maryline Minoux, Sophie Jung, Frédéric Obry, Vincent Vogt, Jean-Luc Davideau, Tiphaine Davit-Beal, Anne-Sophie Kaiser, Ute Moog, Béatrice Richard, Jean-Jacques Morrier, Jean-Pierre Duprez, Sylvie Odent, Isabelle Bailleul-Forestier, Monique Marie Rousset, Laure Merametdijan, Annick Toutain, Clara Joseph, Fabienne Giuliano, Jean-Christophe Dahlet, Aymeric Courval, Mustapha El Alloussi, Samir Laouina, Sylvie Soskin, Nathalie Guffon, Anne Dieux, Bérénice Doray, Stephanie Feierabend, Emmanuelle Ginglinger, Benjamin Fournier, Muriel de la Dure Molla, Yves Alembik, Corinne Tardieu, François Clauss, Ariane Berdal, Corinne Stoetzel, Marie Cécile Manière, Hélène Dollfus, Agnès Bloch-Zupan
    Journal of Medical Genetics Feb 2016, 53 (2) 98-110; DOI: 10.1136/jmedgenet-2015-103302
  • Canadian Open Genetics Repository (COGR): a unified clinical genomics database as a community resource for standardising and sharing genetic interpretations
    Jordan Lerner-Ellis, Marina Wang, Shana White, Matthew S Lebo, and the Canadian Open Genetics Repository Group
    Journal of Medical Genetics Jul 2015, 52 (7) 438-445; DOI: 10.1136/jmedgenet-2014-102933
  • Evidence of digenic inheritance in Alport syndrome
    Maria Antonietta Mencarelli, Laurence Heidet, Helen Storey, Michel van Geel, Bertrand Knebelmann, Chiara Fallerini, Nunzia Miglietti, Maria Fatima Antonucci, Francesco Cetta, John A Sayer, Arthur van den Wijngaard, Shu Yau, Francesca Mari, Mirella Bruttini, Francesca Ariani, Karin Dahan, Bert Smeets, Corinne Antignac, Frances Flinter, Alessandra Renieri
    Journal of Medical Genetics Mar 2015, 52 (3) 163-174; DOI: 10.1136/jmedgenet-2014-102822
  • Preimplantation genetic diagnosis in mitochondrial DNA disorders: challenge and success
    Suzanne C E H Sallevelt, Joseph C F M Dreesen, Marion Drüsedau, Sabine Spierts, Edith Coonen, Florence H J van Tienen, Ronald J T van Golde, Irineus F M de Coo, Joep P M Geraedts, Christine E M de Die-Smulders, Hubert J M Smeets
    Journal of Medical Genetics Feb 2013, 50 (2) 125-132; DOI: 10.1136/jmedgenet-2012-101172

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