Disruption of long-range gene regulation in human genetic disease: a kaleidoscope of general principles, diverse mechanisms and unique phenotypic consequences Shipra BhatiaDirk A. Kleinjan Review Paper 05 February 2014 Pages: 815 - 845
Clinical and genomic evaluation of 201 patients with Phelan–McDermid syndrome Sara M. SarasuaLuigi BoccutoBarbara R. DuPont Original Investigation 31 January 2014 Pages: 847 - 859
Characterization of mitochondrial haplogroups in a large population-based sample from the United States Sabrina L. MitchellRobert GoodloeDana C. Crawford Original Investigation 01 February 2014 Pages: 861 - 868
Characterization of the DYX2 locus on chromosome 6p22 with reading disability, language impairment, and IQ John D. EicherNatalie R. PowersJeffrey R. Gruen Original Investigation Open access 09 February 2014 Pages: 869 - 881
CUBN and NEBL common variants in the chromosome 10p13 linkage region are associated with multibacillary leprosy in Vietnam Audrey V. GrantAurelie CobatErwin Schurr Original Investigation 23 February 2014 Pages: 883 - 893
A human rights approach to an international code of conduct for genomic and clinical data sharing Bartha M. KnoppersJennifer R. HarrisEdward S. Dove Original Investigation Open access 27 February 2014 Pages: 895 - 903
Association and interaction analyses of 5-HT3 receptor and serotonin transporter genes with alcohol, cocaine, and nicotine dependence using the SAGE data Jiekun YangMing D. Li Original Investigation 04 March 2014 Pages: 905 - 918
Genome-wide association studies identified novel loci for non-high-density lipoprotein cholesterol and its postprandial lipemic response Ping AnRobert J. StrakaIngrid B. Borecki Original Investigation 07 March 2014 Pages: 919 - 930
The impact of microRNA expression on cellular proliferation Divya LenkalaBonnie LaCroixR. Stephanie Huang Original Investigation 08 March 2014 Pages: 931 - 938
Expanding the clinical and mutational spectrum of Kaufman oculocerebrofacial syndrome with biallelic UBE3B mutations Lina Basel-VanagaiteRüstem YilmazGuntram Borck Original Investigation 11 March 2014 Pages: 939 - 949
