1. Disruption of long-range gene regulation in human genetic disease: a kaleidoscope of general principles, diverse mechanisms and unique phenotypic consequences

   • Shipra Bhatia
   • Dirk A. Kleinjan

   Review Paper 05 February 2014 Pages: 815 - 845

   

2. Clinical and genomic evaluation of 201 patients with Phelan–McDermid syndrome

   • Sara M. Sarasua
   • Luigi Boccuto
   • Barbara R. DuPont

   Original Investigation 31 January 2014 Pages: 847 - 859

   

3. Characterization of mitochondrial haplogroups in a large population-based sample from the United States

   • Sabrina L. Mitchell
   • Robert Goodloe
   • Dana C. Crawford

   Original Investigation 01 February 2014 Pages: 861 - 868

   

4. Characterization of the DYX2 locus on chromosome 6p22 with reading disability, language impairment, and IQ

   • John D. Eicher
   • Natalie R. Powers
   • Jeffrey R. Gruen

   Original Investigation Open access 09 February 2014 Pages: 869 - 881

   

5. CUBN and NEBL common variants in the chromosome 10p13 linkage region are associated with multibacillary leprosy in Vietnam

   • Audrey V. Grant
   • Aurelie Cobat
   • Erwin Schurr

   Original Investigation 23 February 2014 Pages: 883 - 893

   

6. A human rights approach to an international code of conduct for genomic and clinical data sharing

   • Bartha M. Knoppers
   • Jennifer R. Harris
   • Edward S. Dove

   Original Investigation Open access 27 February 2014 Pages: 895 - 903

7. Association and interaction analyses of 5-HT3 receptor and serotonin transporter genes with alcohol, cocaine, and nicotine dependence using the SAGE data

   • Jiekun Yang
   • Ming D. Li

   Original Investigation 04 March 2014 Pages: 905 - 918

   

8. Genome-wide association studies identified novel loci for non-high-density lipoprotein cholesterol and its postprandial lipemic response

   • Ping An
   • Robert J. Straka
   • Ingrid B. Borecki

   Original Investigation 07 March 2014 Pages: 919 - 930

   

9. The impact of microRNA expression on cellular proliferation

   • Divya Lenkala
   • Bonnie LaCroix
   • R. Stephanie Huang

   Original Investigation 08 March 2014 Pages: 931 - 938

   

10. Expanding the clinical and mutational spectrum of Kaufman oculocerebrofacial syndrome with biallelic UBE3B mutations

    • Lina Basel-Vanagaite
    • Rüstem Yilmaz
    • Guntram Borck

    Original Investigation 11 March 2014 Pages: 939 - 949