Published in Am J Hum Genet on December 16, 2003
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Phase I clinical/pharmacokinetic and pharmacodynamic trial of the c-raf-1 antisense oligonucleotide ISIS 5132 (CGP 69846A). J Clin Oncol (1999) 0.93
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Local dystrophin restoration with antisense oligonucleotide PRO051. N Engl J Med (2007) 7.29
Systemic administration of PRO051 in Duchenne's muscular dystrophy. N Engl J Med (2011) 5.91
LOVD v.2.0: the next generation in gene variant databases. Hum Mutat (2011) 5.53
Phenotypically concordant and discordant monozygotic twins display different DNA copy-number-variation profiles. Am J Hum Genet (2008) 5.53
Improving sequence variant descriptions in mutation databases and literature using the Mutalyzer sequence variation nomenclature checker. Hum Mutat (2008) 4.22
Locus Reference Genomic sequences: an improved basis for describing human DNA variants. Genome Med (2010) 4.19
Hypomethylation of D4Z4 in 4q-linked and non-4q-linked facioscapulohumeral muscular dystrophy. Nat Genet (2003) 3.60
LOVD: easy creation of a locus-specific sequence variation database using an "LSDB-in-a-box" approach. Hum Mutat (2005) 2.86
Digenic inheritance of an SMCHD1 mutation and an FSHD-permissive D4Z4 allele causes facioscapulohumeral muscular dystrophy type 2. Nat Genet (2012) 2.82
Theoretic applicability of antisense-mediated exon skipping for Duchenne muscular dystrophy mutations. Hum Mutat (2009) 2.67
Mutations in SWI/SNF chromatin remodeling complex gene ARID1B cause Coffin-Siris syndrome. Nat Genet (2012) 2.63
High-resolution melting analysis (HRMA): more than just sequence variant screening. Hum Mutat (2009) 2.59
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Facioscapulohumeral muscular dystrophy is uniquely associated with one of the two variants of the 4q subtelomere. Nat Genet (2002) 2.42
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Genetic heterogeneity in Rubinstein-Taybi syndrome: mutations in both the CBP and EP300 genes cause disease. Am J Hum Genet (2005) 2.40
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Therapeutic antisense-induced exon skipping in cultured muscle cells from six different DMD patients. Hum Mol Genet (2003) 2.17
Loss-of-function mutations in MICU1 cause a brain and muscle disorder linked to primary alterations in mitochondrial calcium signaling. Nat Genet (2013) 2.11
Three genome-wide association studies and a linkage analysis identify HERC2 as a human iris color gene. Am J Hum Genet (2008) 2.09
Deep sequencing to reveal new variants in pooled DNA samples. Hum Mutat (2009) 2.04
Advances in Duchenne muscular dystrophy gene therapy. Nat Rev Genet (2003) 1.96
Two-color multiplex ligation-dependent probe amplification: detecting genomic rearrangements in hereditary multiple exostoses. Hum Mutat (2004) 1.94
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Recommendations of the 2006 Human Variome Project meeting. Nat Genet (2007) 1.90
Standardizing mutation nomenclature: why bother? Hum Mutat (2003) 1.80
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An immune response network associated with blood lipid levels. PLoS Genet (2010) 1.74
Targeted exon skipping as a potential gene correction therapy for Duchenne muscular dystrophy. Neuromuscul Disord (2002) 1.72
Frequency of new copy number variation in humans. Nat Genet (2005) 1.71
In vivo comparison of 2'-O-methyl phosphorothioate and morpholino antisense oligonucleotides for Duchenne muscular dystrophy exon skipping. J Gene Med (2009) 1.66
Describing structural changes by extending HGVS sequence variation nomenclature. Hum Mutat (2011) 1.62
High-resolution whole-genome sequencing reveals that specific chromatin domains from most human chromosomes associate with nucleoli. Mol Biol Cell (2010) 1.56
Comprehensive detection of genomic duplications and deletions in the DMD gene, by use of multiplex amplifiable probe hybridization. Am J Hum Genet (2002) 1.55
Small N-terminal mutant huntingtin fragments, but not wild type, are mainly present in monomeric form: Implications for pathogenesis. Exp Neurol (2005) 1.53
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Guidelines for antisense oligonucleotide design and insight into splice-modulating mechanisms. Mol Ther (2008) 1.48
Targeted exon skipping in transgenic hDMD mice: A model for direct preclinical screening of human-specific antisense oligonucleotides. Mol Ther (2004) 1.46
Fluorescent labelling of cRNA for microarray applications. Nucleic Acids Res (2003) 1.46
AHNAK, a novel component of the dysferlin protein complex, redistributes to the cytoplasm with dysferlin during skeletal muscle regeneration. FASEB J (2006) 1.44
Functional analysis of 114 exon-internal AONs for targeted DMD exon skipping: indication for steric hindrance of SR protein binding sites. Oligonucleotides (2005) 1.42
New methods for next generation sequencing based microRNA expression profiling. BMC Genomics (2010) 1.38
Exploring the frontiers of therapeutic exon skipping for Duchenne muscular dystrophy by double targeting within one or multiple exons. Mol Ther (2006) 1.38
Phage display screening without repetitious selection rounds. Anal Biochem (2011) 1.36
Can subtle changes in gene expression be consistently detected with different microarray platforms? BMC Genomics (2008) 1.36
A common reference for cDNA microarray hybridizations. Nucleic Acids Res (2002) 1.35
Loss-of-function mutations in IGSF1 cause an X-linked syndrome of central hypothyroidism and testicular enlargement. Nat Genet (2012) 1.34
Practical guidelines addressing ethical issues pertaining to the curation of human locus-specific variation databases (LSDBs). Hum Mutat (2010) 1.33
Preclinical PK and PD studies on 2'-O-methyl-phosphorothioate RNA antisense oligonucleotides in the mdx mouse model. Mol Ther (2010) 1.32
CORE_TF: a user-friendly interface to identify evolutionary conserved transcription factor binding sites in sets of co-regulated genes. BMC Bioinformatics (2008) 1.31
How to catch all those mutations--the report of the third Human Variome Project Meeting, UNESCO Paris, May 2010. Hum Mutat (2010) 1.31
Large scale single nucleotide polymorphism discovery in unsequenced genomes using second generation high throughput sequencing technology: applied to turkey. BMC Genomics (2009) 1.31
Deletion and duplication screening in the DMD gene using MLPA. Eur J Hum Genet (2005) 1.30
Curating gene variant databases (LSDBs): toward a universal standard. Hum Mutat (2011) 1.30
Application of massive parallel sequencing to whole genome SNP discovery in the porcine genome. BMC Genomics (2009) 1.29
Leiden Open Variation Database of the MUTYH gene. Hum Mutat (2010) 1.28
Coffin-Siris syndrome and the BAF complex: genotype-phenotype study in 63 patients. Hum Mutat (2013) 1.27
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Integrated analysis of DNA copy number and gene expression microarray data using gene sets. BMC Bioinformatics (2009) 1.25
Genome-wide assessment of differential roles for p300 and CBP in transcription regulation. Nucleic Acids Res (2010) 1.25
Mutations in ZBTB24 are associated with immunodeficiency, centromeric instability, and facial anomalies syndrome type 2. Am J Hum Genet (2011) 1.24
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Progress in therapeutic antisense applications for neuromuscular disorders. Eur J Hum Genet (2009) 1.19