Journal of Medical Genetics: 52 (1)

Reviews

Recent advances in primary ciliary dyskinesia genetics (28 October, 2014)
Małgorzata Kurkowiak, Ewa Ziętkiewicz, Michał Witt
Case-only exome sequencing and complex disease susceptibility gene discovery: study design considerations (4 November, 2014)
Lang Wu, Daniel J Schaid, Hugues Sicotte, Eric D Wieben, Hu Li, Gloria M Petersen
Pseudogene in cancer: real functions and promising signature (12 November, 2014) Free
Lu Xiao-Jie, Gao Ai-Mei, Ji Li-Juan, Xu Jiang

Communications:
Genomic variations integrated database for MUTYH-associated adenomatous polyposis
(3 November, 2014)
Philippe Grandval, Aurélie J Fabre, Pascaline Gaildrat, Stéphanie Baert-Desurmont, Martine Blayau, Marie-Pierre Buisine, Florence Coulet, Christine Maugard, Stéphane Pinson, Audrey Remenieras, Etienne Rouleau, Nancy Uhrhammer, Christophe Beroud, Sylviane Olschwang

Original article: Next-generation sequencing of nine atrial fibrillation candidate genes identified novel de novo mutations in patients with extreme trait of atrial fibrillation (12 November, 2014)
Chia-Ti Tsai, Chia-Shan Hsieh, Sheng-Nan Chang, Eric Y Chuang, Jyh-Ming Jimmy Juang, Lian-Yu Lin, Ling-Ping Lai, Juey-Jen Hwang, Fu-Tien Chiang, Jiunn-Lee Lin
Original article:
EIF4G1 is neither a strong nor a common risk factor for Parkinson's disease: evidence from large European cohorts
(3 November, 2014)
Johanna Huttenlocher, Rejko Krüger, Philipp Capetian, Katja Lohmann, Kathrin Brockmann, Ilona Csoti, Christine Klein, Daniela Berg, Thomas Gasser, Michael Bonin, Olaf Riess, Peter Bauer

Original article:
Differential increases of specific FMR1 mRNA isoforms in premutation carriers
(30 October, 2014)
Dalyir I Pretto, John S Eid, Carolyn M Yrigollen, Hiu-Tung Tang, Erick W Loomis, Chris Raske, Blythe Durbin-Johnson, Paul J Hagerman, Flora Tassone

Original article:
Exhaustive methylation analysis revealed uneven profiles of methylation at IGF2/ICR1/H19 11p15 loci in Russell Silver syndrome
(13 November, 2014)
Salah Azzi, Virginie Steunou, Jörg Tost, Sylvie Rossignol, Nathalie Thibaud, Cristina Das Neves, Marilyne Le Jule, Walid Abi Habib, Annick Blaise, Yves Koudou, Florence Busato, Yves Le Bouc, Irène Netchine

Original article:
WWOX-related encephalopathies: delineation of the phenotypical spectrum and emerging genotype-phenotype correlation
(19 November, 2014)
Cyril Mignot, Laetitia Lambert, Laurent Pasquier, Thierry Bienvenu, Andrée Delahaye-Duriez, Boris Keren, Jérémie Lefranc, Aline Saunier, Lila Allou, Virginie Roth, Mylène Valduga, Aissa Moustaïne, Stéphane Auvin, Catherine Barrey, Sandra Chantot-Bastaraud, Nicolas Lebrun, Marie-Laure Moutard, Marie-Christine Nougues, Anne-Isabelle Vermersch, Bénédicte Héron, Eva Pipiras, Delphine Héron, Laurence Olivier-Faivre, Jean-Louis Guéant, Philippe Jonveaux, Christophe Philippe