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32199 publications found in the database

*2012 (1980)

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

2012 Publications

POC1A Truncation Mutation Causes a Ciliopathy in Humans Characterized by Primordial Dwarfism
Shaheen, R. et al. American Journal of Human Genetics 91(2), 330-6, 2012  PubMed

A novel crumbs homolog 1 mutation in a family with retinitis pigmentosa, nanophthalmos, and optic disc drusen
Paun, C. C. et al. Molecular Vision 18(256-57), 2447-53, 2012, Human Mapping 500K Array SetMapping 500K  PubMed

Rare and Low Frequency Variant Stratification in the UK Population: Description and Impact on Association Tests
Babron, M. C. et al. Plos One 7(10), NPG, 2012, Human Mapping 500K Array SetMapping 500K  PubMed

Methylome-wide comparison of human genomic DNA extracted from whole blood and from EBV-transformed lymphocyte cell lines
Alberg, K. et al. European Journal of Human Genetics 20(9), 953-5, 2012  PubMed

Dissecting the genetic make-up of North-East Sardinia using a large set of haploid and autosomal markers
Pardo, L. M. et al. European Journal of Human Genetics 20(9), 956-64, 2012  PubMed

A 600 kb triplication in the cat eye syndrome critical region causes anorectal, renal and preauricular anomalies in a three-generation family
Knijnenburg, J. et al. European Journal of Human Genetics 20(9), 986-9, 2012, Genome-Wide Human SNP Array 6.0  PubMed

Inference of Causal Networks from Time-Varying Transcriptome Data via Sparse Coding
Zhang, K. et al. Plos One 7(8), NPG, 2012, Human Gene 1.0 ST Array  PubMed

Analysis of MDM2 and MDM4 Single Nucleotide Polymorphisms, mRNA Splicing and Protein Expression in Retinoblastoma
McEvoy, J. et al. Plos One 7(8), NPG, 2012, Human Genome U133A 2.0 Array  PubMed

Genome-Wide and Locus Specific Alterations in CDC73/HRPT2-Mutated Parathyroid Tumors
Sulaiman, L. et al. Plos One 7(9), NPG, 2012, Human Mapping 500K Array SetMapping 500K  PubMed

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