Journal of Medical Genetics: 53 (4)

Neurogenetics

KCNT1 mutations in seizure disorders: the phenotypic spectrum and functional effects
(6 January, 2016) Free
Chiao Xin Lim, Michael G Ricos, Leanne M Dibbens, Sarah E Heron

Original article:
Gene editing of DNAH11 restores normal cilia motility in primary ciliary dyskinesia
(4 January, 2016)
Michele Lai, Massimo Pifferi, Andrew Bush, Martina Piras, Angela Michelucci, Maria Di Cicco, Ambra del Grosso, Paola Quaranta, Chiara Cursi, Elena Tantillo, Sara Franceschi, Maria Chiara Mazzanti, Paolo Simi, Giuseppe Saggese, Attilio Boner, Mauro Pistello

Original article:
Deletions of 5′ HOXC genes are associated with lower extremity malformations, including clubfoot and vertical talus
(4 January, 2016)
David M Alvarado, Kevin McCall, Jacqueline T Hecht, Matthew B Dobbs, Christina A Gurnett
Chromosomal microarray testing identifies a 4p terminal region associated with seizures in Wolf–Hirschhorn syndrome (8 January, 2016)
Karen S Ho, Sarah T South, Amanda Lortz, Charles H Hensel, Mallory R Sdano, Rena J Vanzo, Megan M Martin, Andreas Peiffer, Christophe G Lambert, Amy Calhoun, John C Carey, Agatino Battaglia

Original article: Deficiency of the myogenic factor MyoD causes a perinatally lethal fetal akinesia (5 January, 2016)
Christopher M Watson, Laura A Crinnion, Helen Murphy, Melanie Newbould, Sally M Harrison, Carolina Lascelles, Agne Antanaviciute, Ian M Carr, Eamonn Sheridan, David T Bonthron, Audrey Smith
Original Article: Disturbed mitochondrial and peroxisomal dynamics due to loss of MFF causes Leigh-like encephalopathy, optic atrophy and peripheral neuropathy (18 January, 2016)
Johannes Koch, René G Feichtinger, Peter Freisinger, Mechthild Pies, Falk Schrödl, Arcangela Iuso, Wolfgang Sperl, Johannes A Mayr, Holger Prokisch, Tobias B Haack

Original article: A study of common Mendelian disease carriers across ageing British cohorts: meta-analyses reveal heterozygosity for alpha 1-antitrypsin deficiency increases respiratory capacity and height (1 February, 2016)
Teri-Louise North, Yoav Ben-Shlomo, Cyrus Cooper, Ian J Deary, John Gallacher, Mika Kivimaki, Meena Kumari, Richard M Martin, Alison Pattie, Avan Aihie Sayer, John M Starr, Andrew Wong, Diana Kuh, Santiago Rodriguez, Ian N M Day