1. 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

   

2. Parkinson disease loci in the mid-western Amish

   • M. F. Davis
   • A. C. Cummings
   • J. L. Haines

   Original Investigation 21 June 2013 Pages: 1213 - 1221

   

3. A novel rearrangement of occludin causes brain calcification and renal dysfunction

   • Marissa A. LeBlanc
   • Lynette S. Penney
   • Karen Bedard

   Original Investigation 21 June 2013 Pages: 1223 - 1234

   

4. MuPIT interactive: webserver for mapping variant positions to annotated, interactive 3D structures

   • Noushin Niknafs
   • Dewey Kim
   • Rachel Karchin

   Original Investigation 23 June 2013 Pages: 1235 - 1243

   

5. TMEM43 mutations associated with arrhythmogenic right ventricular cardiomyopathy in non-Newfoundland populations

   • Berivan Baskin
   • Jon R. Skinner
   • Robert M. Hamilton

   Original Investigation 29 June 2013 Pages: 1245 - 1252

   

6. 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 Farooq
   • Hiroyuki Nakai
   • Yutaka Shimomura

   Original Investigation 29 June 2013 Pages: 1253 - 1264

   

7. Novel deletion of RPL15 identified by array-comparative genomic hybridization in Diamond–Blackfan anemia

   • Michael Landowski
   • Marie-Françoise O’Donohue
   • Hanna T. Gazda

   Original Investigation 30 June 2013 Pages: 1265 - 1274

   

8. Common genetic variants associated with lipid profiles in a Chinese pediatric population

   • Yue Shen
   • Bo Xi
   • Jie Mi

   Original Investigation 06 July 2013 Pages: 1275 - 1285

   

9. Co-segregation of trichorhinophalangeal syndrome with a t(8;13)(q23.3;q21.31) familial translocation that appears to increase TRPS1 gene expression

   • Dezső David
   • Bárbara Marques
   • Maximina Pinto

   Original Investigation 09 July 2013 Pages: 1287 - 1299

   

10. Detecting genomic clustering of risk variants from sequence data: cases versus controls

    • Daniel J. Schaid
    • Jason P. Sinnwell
    • Stephen N. Thibodeau

    Original Investigation 11 July 2013 Pages: 1301 - 1309

    

11. A hypofunctional PAX1 mutation causes autosomal recessively inherited otofaciocervical syndrome

    • Esther Pohl
    • Ayca Aykut
    • Bernd Wollnik

    Original Investigation 13 July 2013 Pages: 1311 - 1320

    

12. Erratum to: A hypofunctional PAX1 mutation causes autosomal recessively inherited otofaciocervical syndrome

    • Esther Pohl
    • Ayca Aykut
    • Bernd Wollnik

    Erratum 25 July 2013 Pages: 1321 - 1321