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32199 publications found in the database

*2014 (1694)

*Starting in 2010, coverage has been refocused on core journals.

2014 Publications

A mutation in a ganglioside biosynthetic enzyme, ST3GAL5, results in salt & pepper syndrome, a neurocutaneous disorder with altered glycolipid and glycoprotein glycosylation
Boccuto, L. et al. Human Molecular Genetics 23(2), 418-33, 2014, Genome-Wide Human SNP Array 6.0  PubMed

The familial dementia gene revisited: a missense mutation revealed by whole-exome sequencing identifies ITM2B as a candidate gene underlying a novel autosomal dominant retinal dystrophy in a large family
Audo, I. et al. Human Molecular Genetics 23(2), 491-501, 2014, Mouse Genome 430 2.0 Array  PubMed

Integrative genome and transcriptome analyses reveal two distinct types of ring chromosome in soft tissue sarcomas
Nord, K. H. et al. Human Molecular Genetics 23(4), 878-88, 2014, Human Gene 1.0 ST Array  PubMed

Evaluation of copy number variation detection for a SNP array platform
Zhang, X. et al. BMC Bioinformatics 15(), NPG, 2014, Genome-Wide Human SNP Array 6.0  PubMed

The role of the mitochondrial ribosome in human disease: searching for mutations in 12S mitochondrial rRNA with high disruptive potential
Smith, P. M. et al. Human Molecular Genetics 23(4), 949-67, 2014  PubMed

A meta-analysis of genome-wide association studies for adiponectin levels in East Asians identifies a novel locus near WDR11-FGFR2
Wu, Y. et al. Human Molecular Genetics 23(4), 1108-19, 2014  PubMed

Frequent and sex-biased deletion of SLX4IP by illegitimate V(D) J- mediated recombination in childhood acute lymphoblastic leukemia
Meissner, B. et al. Human Molecular Genetics 23(3), 590-601, 2014, Mapping 100K Set  PubMed

Genetic associations with expression for genes implicated in GWAS studies for atherosclerotic cardiovascular disease and blood phenotypes
Zhang, X. L. et al. Human Molecular Genetics 23(3), 782-95, 2014  PubMed

Meta-analysis of genome-wide association data identifies novel susceptibility loci for obesity
Pei, Y. F. et al. Human Molecular Genetics 23(3), 820-30, 2014  PubMed

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