Improved prediction of complex diseases by common genetic markers: state of the art and further perspectives Bent MüllerArndt WilckeHolger Kirsten Review Open access 02 February 2016 Pages: 259 - 272
Rare copy number variants and congenital heart defects in the 22q11.2 deletion syndrome Elisabeth E. MlynarskiMichael XieThe International Chromosome 22q11.2 Consortium Original Investigation 07 January 2016 Pages: 273 - 285
The pathological effects of connexin 26 variants related to hearing loss by in silico and in vitro analysis Hui Ram KimSe-Kyung OhUn-Kyung Kim Original Investigation 09 January 2016 Pages: 287 - 298
A genome-wide association study of pulmonary tuberculosis in Morocco A. V. GrantA. SabriL. Abel Original Investigation 14 January 2016 Pages: 299 - 307
Resolving the ancestry of Austronesian-speaking populations Pedro A. SoaresJean A. TrejautMartin B. Richards Original Investigation Open access 18 January 2016 Pages: 309 - 326
Treatment of retinitis pigmentosa due to MERTK mutations by ocular subretinal injection of adeno-associated virus gene vector: results of a phase I trial Nicola G. GhaziEmad B. AbboudFowzan S. Alkuraya Original Investigation 29 January 2016 Pages: 327 - 343
Phenotypic subregions within the split-hand/foot malformation 1 locus Malene B. RasmussenSven KreiborgNanna D. Rendtorff Original Investigation 02 February 2016 Pages: 345 - 357
Clinical sequencing: is WGS the better WES? Janine MeienbergRémy BruggmannGabor Matyas Short Report Open access 07 January 2016 Pages: 359 - 362
