Online First

March 31, 2020

March 24, 2020

  • Cancer genetics
    Colorectal cancer genetic variants are also associated with serrated polyposis syndrome susceptibility
    Coral Arnau-Collell, Yasmin Soares de Lima, Marcos Díaz-Gay, Jenifer Muñoz, Sabela Carballal, Laia Bonjoch, Leticia Moreira, Juan José Lozano, Teresa Ocaña, Miriam Cuatrecasas, Aranzazu Díaz de Bustamante, Antoni Castells, Gabriel Capellà, Luis Bujanda, Joaquin Cubiella, Daniel Rodríguez-Alcalde, Francesc Balaguer, Clara Ruiz-Ponte, Laura Valle, Victor Moreno, Sergi Castellvi-Bel

March 16, 2020

March 13, 2020

March 11, 2020

March 10, 2020

March 09, 2020

March 08, 2020

March 05, 2020

February 24, 2020

  • Neurogenetics
    CDK5RAP2 primary microcephaly is associated with hypothalamic, retinal and cochlear developmental defects
    Hala Nasser, Liza Vera, Monique Elmaleh-Bergès, Katharina Steindl, Pascaline Letard, Natacha Teissier, Anais Ernault, Fabien Guimiot, Alexandra Afenjar, Marie Laure Moutard, Delphine Héron, Yves Alembik, Martha Momtchilova, Paolo Milani, Nathalie Kubis, Nathalie Pouvreau, Marcella Zollino, Sophie Guilmin Crepon, Florentia Kaguelidou, Pierre Gressens, Alain Verloes, Anita Rauch, Vincent El Ghouzzi, Severine Drunat, Sandrine Passemard

February 21, 2020

February 18, 2020

  • 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

February 17, 2020

February 13, 2020

February 12, 2020

January 31, 2020

January 30, 2020

January 29, 2020

January 28, 2020

January 27, 2020

January 24, 2020

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 20, 2019

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