Table of contents

November 2012 - Volume 49 - 11

Cognitive and behavioural genetics

Complex traits

Copy-number variation

Epigenetics

Developmental defects

  • Antenatal spectrum of CHARGE syndrome in 40 fetuses with CHD7 mutations
    (28 September, 2012)
    Marine Legendre, Marie Gonzales, Géraldine Goudefroye, Frédéric Bilan, Pauline Parisot, Marie-José Perez, Maryse Bonnière, Bettina Bessières, Jelena Martinovic, Anne-Lise Delezoide, Frédérique Jossic, Catherine Fallet-Bianco, Martine Bucourt, Julia Tantau, Philippe Loget, Laurence Loeuillet, Nicole Laurent, Brigitte Leroy, Houria Salhi, Nicole Bigi, Caroline Rouleau, Fabien Guimiot, Chloé Quélin, Anne Bazin, Caroline Alby, Amale Ichkou, Roselyne Gesny, Alain Kitzis, Yves Ville, Stanislas Lyonnet, Ferechte Razavi, Brigitte Gilbert-Dussardier, Michel Vekemans, Tania Attié-Bitach
  • Original article: Two novel CCDC88C mutations confirm the role of DAPLE in autosomal recessive congenital hydrocephalus (5 October, 2012)
    Anais Drielsma, Chaim Jalas, Nicolas Simonis, Julie Désir, Natalia Simanovsky, Isabelle Pirson, Orly Elpeleg, Marc Abramowicz, Simon Edvardson
  • Novel KIF7 mutations extend the phenotypic spectrum of acrocallosal syndrome
    (2 November, 2012)
    Audrey Putoux, Sheela Nampoothiri, Nicole Laurent, Valérie Cormier-Daire, Philip L Beales, Albert Schinzel, Deborah Bartholdi, Caroline Alby, Sophie Thomas, Nadia Elkhartoufi, Amale Ichkou, Julie Litzler, Arnold Munnich, Férechté Encha-Razavi, Rajesh Kannan, Laurence Faivre, Nathalie Boddaert, Anita Rauch, Michel Vekemans, Tania Attié-Bitach

Genotype-phenotype correlations

  • Short report: A multi-centre clinico-genetic analysis of the VPS35 gene in Parkinson disease indicates reduced penetrance for disease-associated variants (2 November, 2012)
    Manu Sharma, John P A Ioannidis, Jan O Aasly, Grazia Annesi, Alexis Brice, Lars Bertram, Maria Bozi, Maria Barcikowska, David Crosiers, Carl E Clarke, Maurizio F Facheris, Matthew Farrer, Gaetan Garraux, Suzana Gispert, Georg Auburger, Carles Vilariño-Güell, Georgios M Hadjigeorgiou, Andrew A Hicks, Nobutaka Hattori, Beom S Jeon, Zygmunt Jamrozik, Anna Krygowska-Wajs, Suzanne Lesage, Christina M Lill, Juei-Jueng Lin, Timothy Lynch, Peter Lichtner, Anthony E Lang, Cecile Libioulle, Miho Murata, Vincent Mok, Barbara Jasinska-Myga, George D Mellick, Karen E Morrison, Thomas Meitnger, Alexander Zimprich, Grzegorz Opala, Peter P Pramstaller, Irene Pichler, Sung Sup Park, Aldo Quattrone, Ekaterina Rogaeva, Owen A. Ross, Leonidas Stefanis, Joanne D Stockton, Wataru Satake, Peter A Silburn, Tim M Strom, Jessie Theuns, Eng- King Tan, Tatsushi Toda, Hiroyuki Tomiyama, Ryan J Uitti, Christine Van Broeckhoven, Karin Wirdefeldt, Zbigniew Wszolek, Georgia Xiromerisiou, Harumi S Yomono, Kuo-Chu Yueh, Yi Zhao, Thomas Gasser, Demetrius Maraganore, Rejko Krüger, on behalf of GEOPD consortium