Journal of Medical Genetics: 46 (3)

Review

Inherited mitochondrial optic neuropathies (10 November, 2008)
P Yu-Wai-Man, P G Griffiths, G Hudson, P F Chinnery

The protective effect of farm animal exposure on childhood allergy is modified by NPSR1 polymorphisms
(19 February, 2008)
S Bruce, F Nyberg, E Melén, A James, V Pulkkinen, C Orsmark-Pietras, A Bergström, B Dahlén, M Wickman, E von Mutius, G Doekes, R Lauener, J Riedler, W Eder, M van Hage, G Pershagen, A Scheynius, J Kere
20p12.3 microdeletion predisposes to Wolff–Parkinson–White syndrome with variable neurocognitive deficits (23 September, 2008)
S R Lalani, J V Thakuria, G F Cox, X Wang, W Bi, M S Bray, C Shaw, S W Cheung, A C Chinault, B A Boggs, Z Ou, E K Brundage, J R Lupski, J Gentile, S Waisbren, A Pursley, L Ma, M Khajavi, G Zapata, R Friedman, J J Kim, J A Towbin, P Stankiewicz, S Schnittger, I Hansmann, T Ai, S Sood, X H Wehrens, J F Martin, J W Belmont, L Potocki

Disruption of contactin 4 in three subjects with autism spectrum disorder (18 March, 2008)
J Roohi, C Montagna, D H Tegay, L E Palmer, C DeVincent, J C Pomeroy, S L Christian, N Nowak, E Hatchwell
Spectrum of SCN1A gene mutations associated with Dravet syndrome: analysis of 333 patients
(17 October, 2008)
C Depienne, O Trouillard, C Saint-Martin, I Gourfinkel-An, D Bouteiller, W Carpentier, B Keren, B Abert, A Gautier, S Baulac, A Arzimanoglou, C Cazeneuve, R Nabbout, E LeGuern
Epigenetic mutations of the imprinted IGF2-H19 domain in Silver–Russell syndrome (SRS): results from a large cohort of patients with SRS and SRS-like phenotypes (9 December, 2008)
D Bartholdi, M Krajewska-Walasek, K Õunap, H Gaspar, K H Chrzanowska, H Ilyana, H Kayserili, I W Lurie, A Schinzel, A Baumer

Novel mutations in patients with McArdle disease by analysis of skeletal muscle mRNA (27 February, 2009)
I García-Consuegra, J C Rubio, G Nogales-Gadea, J Bautista, S Jiménez, A Cabello, A Lucía, A L Andreu, J Arenas, M A Martin
Mutations in LAMB2 causing a severe form of synaptic congenital myasthenic syndrome
(27 February, 2009)
R A Maselli, J J Ng, J A Anderson, O Cagney, J Arredondo, C Williams, H B Wessel, H Abdel-Hamid, R L Wollmann
Novel POLG1 mutations associated with neuromuscular and liver phenotypes in adults and children
(27 February, 2009)
J D Stewart, S Tennant, H Powell, A Pyle, E L Blakely, L He, G Hudson, M Roberts, D du Plessis, D Gow, L D Mewasingh, M G Hanna, S Omer, A A Morris, R Roxburgh, J H Livingston, R McFarland, D M Turnbull, P F Chinnery, R W Taylor