Journal of Medical Genetics J Med Genet: first published as on 1 February 2015. Downloaded from Contents February 2015 Volume 52 Issue 2

Pharmacogenomics Chromosomal rearrangements 71 Mendelian randomisation applied to drug 111 CTNND2—a candidate gene for reading development in cardiovascular disease: a problems and mild intellectual disability review L E Mokry, O Ahmad, V Forgetta, W Hofmeister, D Nilsson, A Topa, B-M Anderlid, G Thanassoulis, J B Richards F Darki, H Matsson, I T Páez, T Klingberg, L Samuelsson, V Wirta, F Vezzi, J Kere, Genotype-phenotype correlations M Nordenskjöld, E S Lundberg, A Lindstrand 80 Current novel-gene-finding strategy for New loci autosomal-dominant hypercholesterolaemia 123 Homozygous missense mutation in MED25 needs refinement S W Fouchier, B A Hutten, J C Defesche segregates with syndromic intellectual disability in a large consanguineous family T Figueiredo, Cover credit: PTEN mutations in autism 85 Neuropathy target esterase impairments cause U S Melo, A L S Pessoa, P R Nobrega, J P Kitajima, and their effect on neuron cells from Oliver–McFarlane and Laurence–Moon I Correa, M Zatz, F Kok, S Santos Spinelli et al., pg 129. syndromes R B Hufnagel, G Arno, N D Hein, J Hersheson, M Prasad, Y Anderson, L A Krueger, Cancer genetics L C Gregory, C Stoetzel, T J Jaworek, S Hull, A Li, 128 Functionally distinct groups of inherited PTEN V Plagnol, C M Willen, T M Morgan, C A Prows, R S Hegde, S Riazuddin, G A Grabowski, mutations in autism and tumour syndromes OPEN ACCESS R J Richardson, K Dieterich, T Huang, T Revesz, L Spinelli, F M Black, J N Berg, B J Eickholt, N R Leslie J P Martinez-Barbera, R A Sisk, C Jefferies, H Houlden, 135 Novel role for non-homologous end joining in

Adopted as the offi cial Journal of the Canadian M T Dattani, J K Fink, H Dollfus, A T Moore, http://jmg.bmj.com/ College of Medical Geneticists the formation of double minutes in Z M Ahmed OPEN ACCESS methotrexate-resistant colon cancer cells Receive regular table of contents 95 Mitochondrial mutations associated with X Meng, X Qi, H Guo, M Cai, C Li, J Zhu, F Chen, by email. Register using this QR code. aminoglycoside ototoxicity and hearing loss H Guo, J Li, Y Zhao, P Liu, X Jia, J Yu, C Zhang, susceptibility identified by meta-analysis W Jing, W Sun, Y Yu, Y Jin, J Bai, M Wang, J Rosales, H Zongjie, F Denggang, H Na, Z Bin, Z Aifen, K-Y Lee, S Fu H Xijiang, Y Cong, D Yunping, H Z Ring,

B Z Ring Correction on September 27, 2021 by guest. Protected copyright. 144 Correction Developmental defects 104 Mutations in SPECC1L, encoding sperm antigen with calponin homology and coiled-coil domains 1-like, are found in some cases of autosomal This article has been chosen by the Editor to dominant Opitz G/BBB syndrome P Kruszka, D Li, be of special interest or importance and is M H Harr, N R Wilson, D Swarr, E M McCormick, freely available online. R M Chiavacci, M Li, A F Martinez, R A Hart, D M McDonald-McGinn, M A Deardorff, M J Falk, This article has been made freely available J E Allanson, C Hudson, J P Johnson, I Saadi, online under the BMJ Journals Open Access scheme. See http://jmj.bmj.com/ H Hakonarson, M Muenke, E H Zackai OPEN ACCESS site/about/guidelines.xhtml#open

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