1. The Human Gene Mutation Database: building a comprehensive mutation repository for clinical and molecular genetics, diagnostic testing and personalized genomic medicine

   • Peter D. Stenson
   • Matthew Mort
   • David N. Cooper

   Review Paper Open access 28 September 2013 Pages: 1 - 9

   

2. The contribution of de novo and rare inherited copy number changes to congenital heart disease in an unselected sample of children with conotruncal defects or hypoplastic left heart disease

   • Dorothy Warburton
   • Michael Ronemus
   • Dan Levy

   Original Investigation 25 August 2013 Pages: 11 - 27

   

3. The missing “link”: an autosomal recessive short stature syndrome caused by a hypofunctional XYLT1 mutation

   • Julia Schreml
   • Burak Durmaz
   • Ferda Ozkinay

   Original Investigation 27 August 2013 Pages: 29 - 39

   

4. Genome-wide association study and meta-analysis of intraocular pressure

   • A. Bilge Ozel
   • Sayoko E. Moroi
   • Jun Z. Li

   Original Investigation 04 September 2013 Pages: 41 - 57

   

5. Comprehensive analysis of the transcriptional landscape of the human FMR1 gene reveals two new long noncoding RNAs differentially expressed in Fragile X syndrome and Fragile X-associated tremor/ataxia syndrome

   • Chiara Pastori
   • Veronica J. Peschansky
   • Claes Wahlestedt

   Original Investigation Open access 05 September 2013 Pages: 59 - 67

   

6. Haptoglobin (HP) and Haptoglobin-related protein (HPR) copy number variation, natural selection, and trypanosomiasis

   • Robert J. Hardwick
   • Anne Ménard
   • Edward J. Hollox

   Original Investigation Open access 05 September 2013 Pages: 69 - 83

   

7. Genetic interactions found between calcium channel genes modulate amyloid load measured by positron emission tomography

   • Mary Ellen I. Koran
   • Timothy J. Hohman
   • Tricia A. Thornton-Wells

   Original Investigation 12 September 2013 Pages: 85 - 93

   

8. A genome- and phenome-wide association study to identify genetic variants influencing platelet count and volume and their pleiotropic effects

   • Khader Shameer
   • Joshua C. Denny
   • Iftikhar J. Kullo

   Original Investigation 12 September 2013 Pages: 95 - 109

   

9. Genetic testing and genetic counseling among medicaid-enrolled children with autism spectrum disorder in 2001 and 2007

   • Lindsay Shea
   • Craig J. Newschaffer
   • David S. Mandell

   Original Investigation 15 September 2013 Pages: 111 - 116

10. WNT10A variants are associated with non-syndromic tooth agenesis in the general population

    • Shujuan Song
    • Ruiying Zhao
    • Liyun Lin

    Original Investigation 17 September 2013 Pages: 117 - 124