Journal of Medical Genetics: 49 (11)

Cognitive and behavioural genetics

Communications:
The speech gene FOXP2 is not imprinted
(2 October, 2012)
Anna C Thomas, Jennifer M Frost, Miho Ishida, Faraneh Vargha-Khadem, Gudrun E Moore, Philip Stanier

Original article: Distinct and replicable genetic risk factors for acute respiratory distress syndrome of pulmonary or extrapulmonary origin (9 October, 2012) Free
Paula Tejera, Nuala J Meyer, Feng Chen, Rui Feng, Yang Zhao, D Shane O'Mahony, Lin Li, Chau-Chyun Sheu, Rihong Zhai, Zhaoxi Wang, Li Su, Ed Bajwa, Amy M Ahasic, Peter F Clardy, Michelle N Gong, Angela J Frank, Paul N Lanken, B Taylor Thompson, Jason D Christie, Mark M Wurfel, Grant E O'Keefe, David C Christiani

Original article: Co-occurrence of recurrent duplications of the DiGeorge syndrome region on both chromosome 22 homologues due to inherited and de novo events (5 October, 2012)
Weimin Bi, Frank J Probst, Joanna Wiszniewska, Katie Plunkett, Erin K Roney, Brian S Carter, Misti D Williams, Pawel Stankiewicz, Ankita Patel, Cathy A Stevens, James R Lupski, Sau Wai Cheung

Original article: Epigenetic state and expression of imprinted genes in umbilical cord correlates with growth parameters in human pregnancy (5 October, 2012)
Ai Lin Lim, Shilen Ng, Suet Ching Pamela Leow, Robin Choo, Mitsuteru Ito, Yiong Huak Chan, Siew Kheng Goh, Emilia Tng, Kenneth Kwek, Yap Seng Chong, Peter D Gluckman, Anne C Ferguson-Smith

Original article:
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
Original article:
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

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