Journal of Medical Genetics: 53 (3)

Diagnostics

The importance of genetic diagnosis for Duchenne muscular dystrophy (11 January, 2016)
Annemieke Aartsma-Rus, Ieke B Ginjaar, Kate Bushby

Original article:
Deletions and de novo mutations of SOX11 are associated with a neurodevelopmental disorder with features of Coffin–Siris syndrome
(5 November, 2015)
Annmarie Hempel, Alistair T Pagnamenta, Moira Blyth, Sahar Mansour, Vivienne McConnell, Ikuyo Kou, Shiro Ikegawa, Yoshinori Tsurusaki, Naomichi Matsumoto, Adriana Lo-Castro, Ghislaine Plessis, Beate Albrecht, Agatino Battaglia, Jenny C Taylor, Malcolm F Howard, David Keays, Aman Singh Sohal, DDD collaboration, Susanne J Kühl, Usha Kini, Alisdair McNeill

Original article: The regulatory element READ1 epistatically influences reading and language, with both deleterious and protective alleles (11 December, 2015)
Natalie R Powers, John D Eicher, Laura L Miller, Yong Kong, Shelley D Smith, Bruce F Pennington, Erik G Willcutt, Richard K Olson, Susan M Ring, Jeffrey R Gruen

Original article:
Low-level APC mutational mosaicism is the underlying cause in a substantial fraction of unexplained colorectal adenomatous polyposis cases
(27 November, 2015)
Isabel Spier, Dmitriy Drichel, Martin Kerick, Jutta Kirfel, Sukanya Horpaopan, Andreas Laner, Stefanie Holzapfel, Sophia Peters, Ronja Adam, Bixiao Zhao, Tim Becker, Richard P Lifton, Sven Perner, Per Hoffmann, Glen Kristiansen, Bernd Timmermann, Markus M Nöthen, Elke Holinski-Feder, Michal R Schweiger, Stefan Aretz

Original article: Disruption of Golgi morphology and altered protein glycosylation in PLA2G6-associated neurodegeneration (14 December, 2015)
Mariska Davids, Megan S Kane, Miao He, Lynne A Wolfe, Xueli Li, Mohd A Raihan, Katherine R Chao, William P Bone, Cornelius F Boerkoel, William A Gahl, Camilo Toro
Original article:
Identification of novel genetic causes of Rett syndrome-like phenotypes
(6 January, 2016) Free
Fátima Lopes, Mafalda Barbosa, Adam Ameur, Gabriela Soares, Joaquim de Sá, Ana Isabel Dias, Guiomar Oliveira, Pedro Cabral, Teresa Temudo, Eulália Calado, Isabel Fineza Cruz, José Pedro Vieira, Renata Oliveira, Sofia Esteves, Sascha Sauer, Inger Jonasson, Ann-Christine Syvänen, Ulf Gyllensten, Dalila Pinto, Patrícia Maciel

Identification of a pathogenic FTO mutation by next-generation sequencing in a newborn with growth retardation and developmental delay
(16 September, 2015)
Hussein Daoud, Dong Zhang, Fiona McMurray, Andrea Yu, Stephanie M Luco, Jason Vanstone, Olga Jarinova, Nancy Carson, James Wickens, Shifali Shishodia, Hwanho Choi, Michael A McDonough, Christopher J Schofield, Mary-Ellen Harper, David A Dyment, Christine M Armour

Original article: Large-scale targeted sequencing comparison highlights extreme genetic heterogeneity in nephronophthisis-related ciliopathies (16 December, 2015)
Markus Schueler, Jan Halbritter, Ian G Phelps, Daniela A Braun, Edgar A Otto, Jonathan D Porath, Heon Yung Gee, Jay Shendure, Brian J O'Roak, Jennifer A Lawson, Marwa M Nabhan, Neveen A Soliman, Dan Doherty, Friedhelm Hildebrandt