The Human Gene Mutation Database: building a comprehensive mutation repository for clinical and molecular genetics, diagnostic testing and personalized genomic medicine Peter D. StensonMatthew MortDavid N. Cooper Review Paper Open access 28 September 2013 Pages: 1 - 9
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 WarburtonMichael RonemusDan Levy Original Investigation 25 August 2013 Pages: 11 - 27
The missing “link”: an autosomal recessive short stature syndrome caused by a hypofunctional XYLT1 mutation Julia SchremlBurak DurmazFerda Ozkinay Original Investigation 27 August 2013 Pages: 29 - 39
Genome-wide association study and meta-analysis of intraocular pressure A. Bilge OzelSayoko E. MoroiJun Z. Li Original Investigation 04 September 2013 Pages: 41 - 57
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 PastoriVeronica J. PeschanskyClaes Wahlestedt Original Investigation Open access 05 September 2013 Pages: 59 - 67
Haptoglobin (HP) and Haptoglobin-related protein (HPR) copy number variation, natural selection, and trypanosomiasis Robert J. HardwickAnne MénardEdward J. Hollox Original Investigation Open access 05 September 2013 Pages: 69 - 83
Genetic interactions found between calcium channel genes modulate amyloid load measured by positron emission tomography Mary Ellen I. KoranTimothy J. HohmanTricia A. Thornton-Wells Original Investigation 12 September 2013 Pages: 85 - 93
A genome- and phenome-wide association study to identify genetic variants influencing platelet count and volume and their pleiotropic effects Khader ShameerJoshua C. DennyIftikhar J. Kullo Original Investigation 12 September 2013 Pages: 95 - 109
Genetic testing and genetic counseling among medicaid-enrolled children with autism spectrum disorder in 2001 and 2007 Lindsay SheaCraig J. NewschafferDavid S. Mandell Original Investigation 15 September 2013 Pages: 111 - 116
WNT10A variants are associated with non-syndromic tooth agenesis in the general population Shujuan SongRuiying ZhaoLiyun Lin Original Investigation 17 September 2013 Pages: 117 - 124