Online First

February 11, 2019

February 06, 2019

February 02, 2019

January 31, 2019

January 25, 2019

  • Mitochondrial genetics
    Diagnosis of ‘possible’ mitochondrial disease: an existential crisis
    Sumit Parikh, Amel Karaa, Amy Goldstein, Enrico Silvio Bertini, Patrick F Chinnery, John Christodoulou, Bruce H Cohen, Ryan L Davis, Marni J Falk, Carl Fratter, Rita Horvath, Mary Kay Koenig, Michaelangelo Mancuso, Shana McCormack, Elizabeth M McCormick, Robert McFarland, Victoria Nesbitt, Manuel Schiff, Hannah Steele, Silvia Stockler, Carolyn Sue, Mark Tarnopolsky, David R Thorburn, Jerry Vockley, Shamima Rahman
  • Cancer genetics
    Prevalence of germline pathogenic BRCA1/2 variants in sequential epithelial ovarian cancer cases
    Robert D Morgan, George J Burghel, Nicola Flaum, Michael Bulman, Andrew R Clamp, Jurjees Hasan, Claire L Mitchell, Helene Schlecht, Emma R Woodward, Fiona I Lallo, Emma J Crosbie, Richard J Edmondson, Andrew J Wallace, Gordon C Jayson, D Gareth R Evans

January 19, 2019

December 31, 2018

December 28, 2018

December 27, 2018

December 22, 2018

December 20, 2018

December 19, 2018

December 05, 2018

December 04, 2018

November 28, 2018

November 26, 2018

November 21, 2018

November 05, 2018

November 01, 2018

October 23, 2018

October 20, 2018

October 09, 2018

October 05, 2018

October 04, 2018

  • Copy-number variation
    16p13.11 microduplication in 45 new patients: refined clinical significance and genotype–phenotype correlations
    Laïla Allach El Khattabi, Solveig Heide, Jean-Hubert Caberg, Joris Andrieux, Martine Doco Fenzy, Caroline Vincent-Delorme, Patrick Callier, Sandra Chantot-Bastaraud, Alexandra Afenjar, Odile Boute-Benejean, Marie Pierre Cordier, Laurence Faivre, Christine Francannet, Marion Gerard, Alice Goldenberg, Alice Masurel-Paulet, Anne-Laure Mosca-Boidron, Nathalie Marle, Anne Moncla, Nathalie Le Meur, Michèle Mathieu-Dramard, Ghislaine Plessis, Gaetan Lesca, Massimiliano Rossi, Patrick Edery, Andrée Delahaye-Duriez, Loïc De Pontual, Anne Claude Tabet, Aziza Lebbar, Lesley Suiro, Christine Ioos, Abdelhafid Natiq, Siham Chafai Elalaoui, Chantal Missirian, Aline Receveur, Caroline François-Fiquet, Pascal Garnier, Catherine Yardin, Cécile Laroche, Philippe Vago, Damien Sanlaville, Jean Michel Dupont, Brigitte Benzacken, Eva Pipiras
  • Diagnostics
    Progression from islet autoimmunity to clinical type 1 diabetes is influenced by genetic factors: results from the prospective TEDDY study
    Andreas Beyerlein, Ezio Bonifacio, Kendra Vehik, Markus Hippich, Christiane Winkler, Brigitte I Frohnert, Andrea K Steck, William A Hagopian, Jeffrey P Krischer, Åke Lernmark, Marian J Rewers, Jin-Xiong She, Jorma Toppari, Beena Akolkar, Stephen S Rich, Anette-G Ziegler the TEDDY Study Group

September 21, 2018

September 07, 2018

August 17, 2018

July 02, 2018

May 05, 2018

March 13, 2018