The application of next-generation sequencing in the autozygosity mapping of human recessive diseases Fowzan S. Alkuraya Review Paper 02 August 2013 Pages: 1197 - 1211
Parkinson disease loci in the mid-western Amish M. F. DavisA. C. CummingsJ. L. Haines Original Investigation 21 June 2013 Pages: 1213 - 1221
A novel rearrangement of occludin causes brain calcification and renal dysfunction Marissa A. LeBlancLynette S. PenneyKaren Bedard Original Investigation 21 June 2013 Pages: 1223 - 1234
MuPIT interactive: webserver for mapping variant positions to annotated, interactive 3D structures Noushin NiknafsDewey KimRachel Karchin Original Investigation 23 June 2013 Pages: 1235 - 1243
TMEM43 mutations associated with arrhythmogenic right ventricular cardiomyopathy in non-Newfoundland populations Berivan BaskinJon R. SkinnerRobert M. Hamilton Original Investigation 29 June 2013 Pages: 1245 - 1252
Characterization of a novel missense mutation in the prodomain of GDF5, which underlies brachydactyly type C and mild Grebe type chondrodysplasia in a large Pakistani family Muhammad FarooqHiroyuki NakaiYutaka Shimomura Original Investigation 29 June 2013 Pages: 1253 - 1264
Novel deletion of RPL15 identified by array-comparative genomic hybridization in Diamond–Blackfan anemia Michael LandowskiMarie-Françoise O’DonohueHanna T. Gazda Original Investigation 30 June 2013 Pages: 1265 - 1274
Common genetic variants associated with lipid profiles in a Chinese pediatric population Yue ShenBo XiJie Mi Original Investigation 06 July 2013 Pages: 1275 - 1285
Co-segregation of trichorhinophalangeal syndrome with a t(8;13)(q23.3;q21.31) familial translocation that appears to increase TRPS1 gene expression Dezső DavidBárbara MarquesMaximina Pinto Original Investigation 09 July 2013 Pages: 1287 - 1299
Detecting genomic clustering of risk variants from sequence data: cases versus controls Daniel J. SchaidJason P. SinnwellStephen N. Thibodeau Original Investigation 11 July 2013 Pages: 1301 - 1309
A hypofunctional PAX1 mutation causes autosomal recessively inherited otofaciocervical syndrome Esther PohlAyca AykutBernd Wollnik Original Investigation 13 July 2013 Pages: 1311 - 1320
Erratum to: A hypofunctional PAX1 mutation causes autosomal recessively inherited otofaciocervical syndrome Esther PohlAyca AykutBernd Wollnik Erratum 25 July 2013 Pages: 1321 - 1321
