Journal of Medical Genetics: 52 (2)

Pharmacogenomics

Mendelian randomisation applied to drug development in cardiovascular disease: a review (16 December, 2014) Free
Lauren E Mokry, Omar Ahmad, Vincenzo Forgetta, George Thanassoulis, J Brent Richards

Original article: Current novel-gene-finding strategy for autosomal-dominant hypercholesterolaemia needs refinement (20 November, 2014)
Sigrid W Fouchier, Barbara A Hutten, Joep C Defesche
Original article: Neuropathy target esterase impairments cause Oliver–McFarlane and Laurence–Moon syndromes (5 December, 2014)
Robert B Hufnagel, Gavin Arno, Nichole D Hein, Joshua Hersheson, Megana Prasad, Yvonne Anderson, Laura A Krueger, Louise C Gregory, Corinne Stoetzel, Thomas J Jaworek, Sarah Hull, Abi Li, Vincent Plagnol, Christi M Willen, Thomas M Morgan, Cynthia A Prows, Rashmi S Hegde, Saima Riazuddin, Gregory A Grabowski, Rudy J Richardson, Klaus Dieterich, Taosheng Huang, Tamas Revesz, J P Martinez-Barbera, Robert A Sisk, Craig Jefferies, Henry Houlden, Mehul T Dattani, John K Fink, Helene Dollfus, Anthony T Moore, Zubair M Ahmed
Original article: Mitochondrial mutations associated with aminoglycoside ototoxicity and hearing loss susceptibility identified by meta-analysis (16 December, 2014)
Wu Jing, Hao Zongjie, Fu Denggang, Hei Na, Zhang Bin, Zhou Aifen, Hu Xijiang, Yao Cong, Dong Yunping, Huijun Z Ring, Brian Z Ring

Original article:
Mutations in SPECC1L, encoding sperm antigen with calponin homology and coiled-coil domains 1-like, are found in some cases of autosomal dominant Opitz G/BBB syndrome
(20 November, 2014)
Paul Kruszka, Dong Li, Margaret H Harr, Nathan R Wilson, Daniel Swarr, Elizabeth M McCormick, Rosetta M Chiavacci, Mindy Li, Ariel F Martinez, Rachel A Hart, Donna M McDonald-McGinn, Matthew A Deardorff, Marni J Falk, Judith E Allanson, Cindy Hudson, John P Johnson, Irfan Saadi, Hakon Hakonarson, Maximilian Muenke, Elaine H Zackai

Original article:
CTNND2—a candidate gene for reading problems and mild intellectual disability
(3 December, 2014)
Wolfgang Hofmeister, Daniel Nilsson, Alexandra Topa, Britt-Marie Anderlid, Fahimeh Darki, Hans Matsson, Isabel Tapia Páez, Torkel Klingberg, Lena Samuelsson, Valtteri Wirta, Francesco Vezzi, Juha Kere, Magnus Nordenskjöld, Elisabeth Syk Lundberg, Anna Lindstrand

Original article:
Homozygous missense mutation in MED25 segregates with syndromic intellectual disability in a large consanguineous family
(19 December, 2014)
Thalita Figueiredo, Uirá Souto Melo, André Luiz Santos Pessoa, Paulo Ribeiro Nobrega, João Paulo Kitajima, Igor Correa, Mayana Zatz, Fernando Kok, Silvana Santos

Original article: Functionally distinct groups of inherited PTEN mutations in autism and tumour syndromes (19 December, 2014)
Laura Spinelli, Fiona M Black, Jonathan N Berg, Britta J Eickholt, Nicholas R Leslie
Original article: Novel role for non-homologous end joining in the formation of double minutes in methotrexate-resistant colon cancer cells (23 December, 2014)
Xiangning Meng, Xiuying Qi, Huanhuan Guo, Mengdi Cai, Chunxiang Li, Jing Zhu, Feng Chen, Huan Guo, Jie Li, Yuzhen Zhao, Peng Liu, Xueyuan Jia, Jingcui Yu, Chunyu Zhang, Wenjing Sun, Yang Yu, Yan Jin, Jing Bai, Mingrong Wang, Jesusa Rosales, Ki-Young Lee, Songbin Fu