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
|