Juan C Perin

Author PubWeight™ 12.31‹?›

Top papers

Rank Title Journal Year PubWeight™‹?›
1 High-resolution mapping and analysis of copy number variations in the human genome: a data resource for clinical and research applications. Genome Res 2009 4.32
2 NMNAT1 mutations cause Leber congenital amaurosis. Nat Genet 2012 1.86
3 CNV Workshop: an integrated platform for high-throughput copy number variation discovery and clinical diagnostics. BMC Bioinformatics 2010 1.36
4 Genome-wide analysis of interferon regulatory factor I binding in primary human monocytes. Gene 2011 0.96
5 Mitochondrial genome sequence analysis: a custom bioinformatics pipeline substantially improves Affymetrix MitoChip v2.0 call rate and accuracy. BMC Bioinformatics 2011 0.95
6 Single nucleotide polymorphism array analysis of bone marrow failure patients reveals characteristic patterns of genetic changes. Br J Haematol 2013 0.83
7 Cytokine-induced monocyte characteristics in SLE. J Biomed Biotechnol 2010 0.82
8 Systematic epitope analysis of the p26 EIAV core protein. J Mol Recognit 2007 0.78
9 Efficient digest of high-throughput sequencing data in a reproducible report. BMC Bioinformatics 2013 0.75