Journal of Medical Genetics: 50 (11)

Review

Advances in osteoarthritis genetics (18 July, 2013)
Kalliope Panoutsopoulou, Eleftheria Zeggini

Original article: Genome-wide association study of chronic hepatitis B virus infection reveals a novel candidate risk allele on 11q22.3 (24 September, 2013)
Ahmed Al-Qahtani, Hanif G Khalak, Fowzan S Alkuraya, Waleed Al-hamoudy, Khalid Alswat, Mohammed A Al Balwi, Ibrahim Al AbdulKareem, Faisal M Sanai, Ayman A Abdo

Original article: Mutations in SLC35A3 cause autism spectrum disorder, epilepsy and arthrogryposis (12 September, 2013)
Simon Edvardson, Angel Ashikov, Chaim Jalas, Luisa Sturiale, Avraham Shaag, Anastasia Fedick, Nathan R Treff, Domenico Garozzo, Rita Gerardy-Schahn, Orly Elpeleg
Short report: Disruption of TBC1D7, a subunit of the TSC1-TSC2 protein complex, in intellectual disability and megalencephaly (17 May, 2013)
José-Mario Capo-Chichi, Joseph Tcherkezian, Fadi F Hamdan, Jean Claude Décarie, Sylvia Dobrzeniecka, Lysanne Patry, Marc-Antoine Nadon, Bettina E Mucha, Philippe Major, Michael Shevell, Bouchra Ouled Amar Bencheikh, Ridha Joober, Mark E Samuels, Guy A Rouleau, Philippe P Roux, Jacques L Michaud

Original article:
Deletion of the 5′exons of COL4A6 is not needed for the development of diffuse leiomyomatosis in patients with Alport syndrome
(19 August, 2013)
Maria João Nabais Sá, Nathalie Fieremans, Arjan P M de Brouwer, Rita Sousa, Fernando Teixeira e Costa, Maria José Brito, Fernanda Carvalho, Márcia Rodrigues, Francisco Teixeira de Sousa, Joana Felgueiras, Fernando Neves, Adelino Carvalho, Umbelina Ramos, José Ramón Vizcaíno, Susana Alves, Filipa Carvalho, Guy Froyen, João Paulo Oliveira

Original article:
Novel cases of D-2-hydroxyglutaric aciduria with IDH1 or IDH2 mosaic mutations identified by amplicon deep sequencing
(18 September, 2013)
Benjamin Nota, Eline M Hamilton, Daoud Sie, Senay Ozturk, Silvy J M van Dooren, Matilde R Fernandez Ojeda, Cornelis Jakobs, Ernst Christensen, Edwin P Kirk, Jolanta Sykut-Cegielska, Allan M Lund, Marjo S van der Knaap, Gajja S Salomons

Short report: Support of the histaminergic hypothesis in Tourette Syndrome: association of the histamine decarboxylase gene in a large sample of families (3 July, 2013) Free
Iordanis Karagiannidis, Sandra Dehning, Paul Sandor, Zsanett Tarnok, Renata Rizzo, Tomasz Wolanczyk, Marcos Madruga-Garrido, Johannes Hebebrand, Markus M Nöthen, Gerd Lehmkuhl, Luca Farkas, Peter Nagy, Urszula Szymanska, Zachos Anastasiou, Vasileios Stathias, Christos Androutsos, Vaia Tsironi, Anastasia Koumoula, Csaba Barta, Peter Zill, Pablo Mir, Norbert Müller, Cathy Barr, Peristera Paschou

Original article: Alternative splicing modifies the effect of mutations in COL11A1 and results in recessive type 2 Stickler syndrome with profound hearing loss (6 August, 2013)
Allan J Richards, Gregory S Fincham, Annie McNinch, David Hill, Arabella V Poulson, Bruce Castle, Melissa M Lees, Anthony T Moore, John D Scott, Martin P Snead
Short report: West syndrome, microcephaly, grey matter heterotopia and hypoplasia of corpus callosum due to a novel ARFGEF2 mutation (28 June, 2013)
Ehud Banne, Osama Atawneh, Marco Henneke, Knut Brockmann, Jutta Gärtner, Orly Elpeleg, Simon Edvardson

Original article: Delineating the genetic heterogeneity of ALS using targeted high-throughput sequencing (23 July, 2013)
Kevin P Kenna, Russell L McLaughlin, Susan Byrne, Marwa Elamin, Mark Heverin, Elaine M Kenny, Paul Cormican, Derek W Morris, Colette G Donaghy, Daniel G Bradley, Orla Hardiman