Online First

January 14, 2020

January 13, 2020

  • Genotype-phenotype correlations
    The clinical relevance of intragenic NRXN1 deletions
    Nele Cosemans, Laura Vandenhove, Annick Vogels, Koenraad Devriendt, Hilde Van Esch, Griet Van Buggenhout, Hilde Olivié, Thomy de Ravel, Els Ortibus, Eric Legius, Peter Aerssens, Jeroen Breckpot, Joris R. Vermeesch, Sanbing Shen, Jacqueline Fitzgerald, Louise Gallagher, Hilde Peeters

January 10, 2020

December 30, 2019

December 25, 2019

  • Diagnostics
    Clinical utility of NGS diagnosis and disease stratification in a multiethnic primary ciliary dyskinesia cohort
    Mahmoud R. Fassad, Mitali P. Patel, Amelia Shoemark, Thomas Cullup, Jane Hayward, Mellisa Dixon, Andrew V. Rogers, Sarah Ollosson, Claire Jackson, Patricia Goggin, Robert A. Hirst, Andrew Rutman, James Thompson, Lucy Jenkins, Paul Aurora, Eduardo Moya, Philip Chetcuti, Chris O'Callaghan, Deborah J Morris-Rosendahl, Christopher M. Watson, Robert Wilson, Siobhan Carr, Woolf Walker, Andreia Pitno, Susana Lopes, Heba Morsy, Walaa Shoman, Luisa Pereira, Carolina Constant, Michael R. Loebinger, Eddie M.K. Chung, Priti Kenia, Nisreen Rumman, Nader Fasseeh, Jane S. Lucas, Claire Hogg, Hannah M. Mitchison

December 20, 2019

December 19, 2019

November 29, 2019

November 26, 2019

November 25, 2019

November 19, 2019

November 12, 2019

  • Cancer genetics
    Psychosocial effects of whole-body MRI screening in adult high-risk pathogenic TP53 mutation carriers: a case-controlled study (SIGNIFY)
    Elizabeth K Bancroft, Sibel Saya, Emma Brown, Sarah Thomas, Natalie Taylor, Jeanette Rothwell, Jennifer Pope, Anthony Chamberlain, Elizabeth Page, Sarah Benafif, Helen Hanson, Alexander Dias, Christos Mikropoulos, Louise Izatt, Lucy Side, Lisa Walker, Alan Donaldson, Jackie A Cook, Julian Barwell, Vicki Wiles, Lauren Limb, Diana M Eccles, Martin O Leach, Susan Shanley, Fiona J Gilbert, David Gallagher, Balashanmugam Rajashanker, Richard W Whitehouse, Dow-Mu Koh, S Aslam Sohaib, D Gareth Evans, Rosalind A Eeles, Leslie G Walker

November 11, 2019

November 08, 2019

October 29, 2019

October 24, 2019

October 07, 2019

October 05, 2019

  • Diagnostics
    Optimised molecular genetic diagnostics of Fanconi anaemia by whole exome sequencing and functional studies
    Massimo Bogliolo, Roser Pujol, Miriam Aza-Carmona, Núria Muñoz-Subirana, Benjamin Rodriguez-Santiago, José Antonio Casado, Paula Rio, Christopher Bauser, Judith Reina-Castillón, Marcos Lopez-Sanchez, Lidia Gonzalez-Quereda, Pia Gallano, Albert Catalá, Ana Ruiz-Llobet, Isabel Badell, Cristina Diaz-Heredia, Raquel Hladun, Leonort Senent, Bienvenida Argiles, Juan Miguel Bergua Burgues, Fatima Bañez, Beatriz Arrizabalaga, Ricardo López Almaraz, Monica Lopez, Ángela Figuera, Antonio Molinés, Inmaculada Pérez de Soto, Inés Hernando, Juan Antonio Muñoz, Maria del Rosario Marin, Judith Balmaña, Neda Stjepanovic, Estela Carrasco, Isabel Cuesta, José Miguel Cosuelo, Alexandra Regueiro, José Moraleda Jimenez, Ana Maria Galera-Miñarro, Laura Rosiñol, Anna Carrió, Cristina Beléndez-Bieler, Antonio Escudero Soto, Elena Cela, Gregorio de la Mata, Rafael Fernández-Delgado, Maria Carmen Garcia-Pardos, Raquel Sáez-Villaverde, Marta Barragaño, Raquel Portugal, Francisco Lendinez, Ines Hernadez, José Manue Vagace, Maria Tapia, José Nieto, Marta Garcia, Macarena Gonzalez, Cristina Vicho, Eva Galvez, Alberto Valiente, Maria Luisa Antelo, Phil Ancliff, Francisco Garcia, Joaquin Dopazo, Julian Sevilla, Tobias Paprotka, Luis Alberto Pérez-Jurado, Juan Bueren, Jordi Surralles
  • Diagnostics
    Increasing knowledge in IGF1R defects: lessons from 35 new patients
    Eloïse Giabicani, Marjolaine Willems, Virginie Steunou, Sandra Chantot-Bastaraud, Nathalie Thibaud, Walid Abi Habib, Salah Azzi, Bich Lam, Laurence Bérard, Hélène Bony-Trifunovic, Cécile Brachet, Elise Brischoux-Boucher, Emmanuelle Caldagues, Regis Coutant, Marie-Laure Cuvelier, Georges Gelwane, Isabelle Guemas, Muriel Houang, Bertrand Isidor, Claire Jeandel, James Lespinasse, Catherine Naud-Saudreau, Monique Jesuran-Perelroizen, Laurence Perrin, Juliette Piard, Claire Sechter, Pierre-François Souchon, Caroline Storey, Domitille Thomas, Yves Le Bouc, Sylvie Rossignol, Irène Netchine, Frédéric Brioude
  • Neurogenetics
    Recurrent homozygous damaging mutation in TMX2, encoding a protein disulfide isomerase, in four families with microlissencephaly
    Shereen Georges Ghosh, Lu Wang, Martin W Breuss, Joshua D Green, Valentina Stanley, Xiaoxu Yang, Danica Ross, Bryan J Traynor, Amal M Alhashem, Matloob Azam, Laila Selim, Laila Bastaki, Hanan I Elbastawisy, Samia Temtamy, Maha Zaki, Joseph G Gleeson

September 21, 2019

September 11, 2019

September 10, 2019

September 09, 2019

September 07, 2019

September 06, 2019

September 04, 2019

August 24, 2019

August 22, 2019

July 30, 2019

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