Online First

April 17, 2018

April 16, 2018

April 11, 2018

  • Genotype-phenotype correlations
    Monosomy 18p is a risk factor for facioscapulohumeral dystrophy
    Judit Balog, Remko Goossens, Richard J L F Lemmers, Kirsten R Straasheijm, Patrick J van der Vliet, Anita van den Heuvel, Chiara Cambieri, Nicolas Capet, Léonard Feasson, Veronique Manel, Julian Contet, Marjolein Kriek, Colleen M Donlin-Smith, Claudia A L Ruivenkamp, Patricia Heard, Stephen J Tapscott, Jannine D Cody, Rabi Tawil, Sabrina Sacconi, Silvère M van der Maarel

April 09, 2018

April 05, 2018

April 04, 2018

  • Review
    Further delineation of the MECP2 duplication syndrome phenotype in 59 French male patients, with a particular focus on morphological and neurological features
    Marguerite Miguet, Laurence Faivre, Jeanne Amiel, Mathilde Nizon, Renaud Touraine, Fabienne Prieur, Laurent Pasquier, Mathilde Lefebvre, Julien Thevenon, Christèle Dubourg, Sophie Julia, Catherine Sarret, Ganaëlle Remerand, Christine Francannet, Fanny Laffargue, Odile Boespflug-Tanguy, Albert David, Bertrand Isidor, Jacqueline Vigneron, Bruno Leheup, Laetitia Lambert, Christophe Philippe, Mylène Béri-Dexheimer, Jean-Marie Cuisset, Joris Andrieux, Ghislaine Plessis, Annick Toutain, Laurent Guibaud, Valérie Cormier-Daire, Marlene Rio, Jean-Paul Bonnefont, Bernard Echenne, Hubert Journel, Lydie Burglen, Sandrine Chantot-Bastaraud, Thierry Bienvenu, Clarisse Baumann, Laurence Perrin, Séverine Drunat, Pierre-Simon Jouk, Klaus Dieterich, Françoise Devillard, Didier Lacombe, Nicole Philip, Sabine Sigaudy, Anne Moncla, Chantal Missirian, Catherine Badens, Nathalie Perreton, Christel Thauvin-Robinet, Réseau AChro-Puce, Jean-Michel Pedespan, Caroline Rooryck, Cyril Goizet, Catherine Vincent-Delorme, Bénédicte Duban-Bedu, Nadia Bahi-Buisson, Alexandra Afenjar, Kim Maincent, Delphine Héron, Jean-Luc Alessandri, Dominique Martin-Coignard, Gaëtan Lesca, Massimiliano Rossi, Martine Raynaud, Patrick Callier, Anne-Laure Mosca-Boidron, Nathalie Marle, Charles Coutton, Véronique Satre, Cédric Le Caignec, Valérie Malan, Serge Romana, Boris Keren, Anne-Claude Tabet, Valérie Kremer, Sophie Scheidecker, Adeline Vigouroux, Marilyn Lackmy-Port-Lis, Damien Sanlaville, Marianne Till, Maryline Carneiro, Brigitte Gilbert-Dussardier, Marjolaine Willems, Hilde Van Esch, Vincent Des Portes, Salima El Chehadeh
  • Genotype-phenotype correlations
    Biochemical and molecular characterisation of neurological Wilson disease
    Go Hun Seo, Yoon-Myung Kim, Seak Hee Oh, Sun Ju Chung, In Hee Choi, Gu-Hwan Kim, Mi-Sun Yum, Jin-Ho Choi, Kyung Mo Kim, Tae-Sung Ko, Beom Hee Lee, Han-Wook Yoo

March 30, 2018

  • Phenotypes
    Retrospective natural history of thymidine kinase 2 deficiency
    Caterina Garone, Robert W Taylor, Andrés Nascimento, Joanna Poulton, Carl Fratter, Cristina Domínguez-González, Julie C Evans, Mariana Loos, Pirjo Isohanni, Anu Suomalainen, Dipak Ram, M Imelda Hughes, Robert McFarland, Emanuele Barca, Carlos Lopez Gomez, Sandeep Jayawant, Neil D Thomas, Adnan Y Manzur, Karin Kleinsteuber, Miguel A Martin, Timothy Kerr, Grainne S Gorman, Ewen W Sommerville, Patrick F Chinnery, Monika Hofer, Christoph Karch, Jeffrey Ralph, Yolanda Cámara, Marcos Madruga-Garrido, Jana Domínguez-Carral, Carlos Ortez, Sonia Emperador, Julio Montoya, Anupam Chakrapani, Joshua F Kriger, Robert Schoenaker, Bruce Levin, John L P Thompson, Yuelin Long, Shamima Rahman, Maria Alice Donati, Salvatore DiMauro, Michio Hirano

March 29, 2018

March 24, 2018

  • Epigenetics
    Maternal variants in NLRP and other maternal effect proteins are associated with multilocus imprinting disturbance in offspring
    Matthias Begemann, Faisal I Rezwan, Jasmin Beygo, Louise E Docherty, Julia Kolarova, Christopher Schroeder, Karin Buiting, Kamal Chokkalingam, Franziska Degenhardt, Emma L Wakeling, Stephanie Kleinle, Daniela González Fassrainer, Barbara Oehl-Jaschkowitz, Claire L S Turner, Michal Patalan, Maria Gizewska, Gerhard Binder, Can Thi Bich Ngoc, Vu Chi Dung, Sarju G Mehta, Gareth Baynam, Julian P Hamilton-Shield, Sara Aljareh, Oluwakemi Lokulo-Sodipe, Rachel Horton, Reiner Siebert, Miriam Elbracht, Isabel Karen Temple, Thomas Eggermann, Deborah J G Mackay

March 23, 2018

March 17, 2018

March 13, 2018

March 07, 2018

March 02, 2018

March 01, 2018

February 26, 2018

February 24, 2018

February 19, 2018

  • Clinical guidelines
    Diagnostic strategy in segmentation defect of the vertebrae: a retrospective study of 73 patients
    Mathilde Lefebvre, Anne Dieux-Coeslier, Geneviève Baujat, Elise Schaefer, Saint-Onge Judith, Anne Bazin, Lucile Pinson, Tania Attie-Bitach, Clarisse Baumann, Melanie Fradin, Genevieve Pierquin, Sophie Julia, Chloé Quélin, Bérénice Doray, Sylvie Berg, Catherine Vincent-Delorme, Laetitia Lambert, Nadine Bachmann, Didier Lacombe, Bertrand Isidor, Nicole Laurent, Roume Joelle, Patricia Blanchet, Sylvie Odent, Dominique Kervran, Nathalie Leporrier, Carine Abel, Karine Segers, Fabienne Guiliano, Emmanuelle Ginglinger-Fabre, Angelo Selicorni, Alice Goldenberg, Salima El Chehadeh, Christine Francannet, Benedicte Demeer, Yannis Duffourd, Christel Thauvin-Robinet, Alain Verloes, Valerie Cormier-Daire, Jean Baptiste Riviere, Laurence Faivre, Julien Thevenon

February 16, 2018

February 07, 2018

January 31, 2018

  • Cancer genetics
    Tumour risks and genotype–phenotype correlations associated with germline variants in succinate dehydrogenase subunit genes SDHB, SDHC and SDHD
    Katrina A Andrews, David B Ascher, Douglas Eduardo Valente Pires, Daniel R Barnes, Lindsey Vialard, Ruth T Casey, Nicola Bradshaw, Julian Adlard, Simon Aylwin, Paul Brennan, Carole Brewer, Trevor Cole, Jackie A Cook, Rosemarie Davidson, Alan Donaldson, Alan Fryer, Lynn Greenhalgh, Shirley V hodgson, Richard Irving, Fiona Lalloo, Michelle McConachie, Vivienne P M McConnell, Patrick J Morrison, Victoria Murday, Soo-Mi Park, Helen L Simpson, Katie Snape, Susan Stewart, Susan E Tomkins, Yvonne Wallis, Louise Izatt, David Goudie, Robert S Lindsay, Colin G Perry, Emma R Woodward, Antonis C Antoniou, Eamonn R Maher

January 22, 2018

January 13, 2018

January 12, 2018

  • Cancer genetics
    Role of germline aberrations affecting CTNNA1, MAP3K6 and MYD88 in gastric cancer susceptibility
    Robbert D A Weren, Rachel S van der Post, Ingrid P Vogelaar, J Han van Krieken, Liesbeth Spruijt, Jan Lubinski, Anna Jakubowska, Urszula Teodorczyk, Cora M Aalfs, Liselotte P van Hest, Carla Oliveira, Eveline J Kamping, Hans K Schackert, Guglielmina N Ranzani, Encarna B Gómez García, Frederik J Hes, Elke Holinski-Feder, Maurizio Genuardi, Margreet G E M Ausems, Rolf H Sijmons, Anja Wagner, Lizet E van der Kolk, Annemieke Cats, Inga Bjørnevoll, Nicoline Hoogerbrugge, Marjolijn J L Ligtenberg
  • Cancer genetics
    Risk factors for survival in patients with von Hippel-Lindau disease
    Jiang-Yi Wang, Shuang-He Peng, Teng Li, Xiang-Hui Ning, Sheng-Jie Liu, Bao-An Hong, Jia-Yuan Liu, Peng-Jie Wu, Bo-Wen Zhou, Jing-Cheng Zhou, Nie-Nie Qi, Xiang Peng, Jiu-Feng Zhang, Kai-Fang Ma, Lin Cai, Kan Gong

December 23, 2017

September 02, 2017

August 22, 2017