Robert J Osborne

Author PubWeight™ 16.97‹?›

Top papers

Rank Title Journal Year PubWeight™‹?›
1 Reversal of RNA dominance by displacement of protein sequestered on triplet repeat RNA. Science 2009 3.62
2 Aberrant alternative splicing and extracellular matrix gene expression in mouse models of myotonic dystrophy. Nat Struct Mol Biol 2010 3.07
3 A method for counting PCR template molecules with application to next-generation sequencing. Nucleic Acids Res 2011 2.23
4 Chloride channelopathy in myotonic dystrophy resulting from loss of posttranscriptional regulation for CLCN1. Am J Physiol Cell Physiol 2006 2.02
5 Splicing biomarkers of disease severity in myotonic dystrophy. Ann Neurol 2013 1.22
6 Novel heterozygous OTX2 mutations and whole gene deletions in anophthalmia, microphthalmia and coloboma. Hum Mutat 2008 1.21
7 Seeing clearly: the dominant and recessive nature of FOXE3 in eye developmental anomalies. Hum Mutat 2009 1.20
8 Bone morphogenetic protein 7 (BMP7) mutations are associated with variable ocular, brain, ear, palate, and skeletal anomalies. Hum Mutat 2010 1.06
9 Reduced TFAP2A function causes variable optic fissure closure and retinal defects and sensitizes eye development to mutations in other morphogenetic regulators. Hum Genet 2009 0.94
10 Reflex: intramolecular barcoding of long-range PCR products for sequencing multiple pooled DNAs. Nucleic Acids Res 2013 0.75