Published in Int J Biochem Cell Biol on October 02, 2007
Accurate inference of transcription factor binding from DNA sequence and chromatin accessibility data. Genome Res (2010) 5.40
Ligand-dependent dynamics of retinoic acid receptor binding during early neurogenesis. Genome Biol (2011) 1.19
Nucleotide composition-linked divergence of vertebrate core promoter architecture. Genome Res (2011) 0.96
The mystery of extreme non-coding conservation. Philos Trans R Soc Lond B Biol Sci (2013) 0.94
Comprehensive analysis of the palindromic motif TCTCGCGAGA: a regulatory element of the HNRNPK promoter. DNA Res (2010) 0.90
Transcriptional profiling of the human fibrillin/LTBP gene family, key regulators of mesenchymal cell functions. Mol Genet Metab (2013) 0.80
A global view of gene activity and alternative splicing by deep sequencing of the human transcriptome. Science (2008) 29.99
Pindel: a pattern growth approach to detect break points of large deletions and medium sized insertions from paired-end short reads. Bioinformatics (2009) 15.08
The Human Phenotype Ontology: a tool for annotating and analyzing human hereditary disease. Am J Hum Genet (2008) 8.78
Walking the interactome for prioritization of candidate disease genes. Am J Hum Genet (2008) 7.03
The Human Phenotype Ontology project: linking molecular biology and disease through phenotype data. Nucleic Acids Res (2013) 5.66
One vs three years of adjuvant imatinib for operable gastrointestinal stromal tumor: a randomized trial. JAMA (2012) 5.00
Ontologizer 2.0--a multifunctional tool for GO term enrichment analysis and data exploration. Bioinformatics (2008) 4.74
Improved detection of overrepresentation of Gene-Ontology annotations with parent child analysis. Bioinformatics (2007) 4.32
Identity-by-descent filtering of exome sequence data identifies PIGV mutations in hyperphosphatasia mental retardation syndrome. Nat Genet (2010) 3.60
Prediction of alternative isoforms from exon expression levels in RNA-Seq experiments. Nucleic Acids Res (2010) 3.36
Clinical diagnostics in human genetics with semantic similarity searches in ontologies. Am J Hum Genet (2009) 3.01
Nanosize and vitality: TiO2 nanotube diameter directs cell fate. Nano Lett (2007) 2.82
Microindel detection in short-read sequence data. Bioinformatics (2010) 2.73
GOing Bayesian: model-based gene set analysis of genome-scale data. Nucleic Acids Res (2010) 2.46
Improved exome prioritization of disease genes through cross-species phenotype comparison. Genome Res (2013) 2.24
Efficient CRISPR/Cas9 genome editing with low off-target effects in zebrafish. Development (2013) 2.22
Entity/quality-based logical definitions for the human skeletal phenome using PATO. Conf Proc IEEE Eng Med Biol Soc (2009) 2.20
Activity of eribulin mesylate in patients with soft-tissue sarcoma: a phase 2 study in four independent histological subtypes. Lancet Oncol (2011) 1.95
Comparison of PET, CT, and dual-modality PET/CT imaging for monitoring of imatinib (STI571) therapy in patients with gastrointestinal stromal tumors. J Nucl Med (2004) 1.91
The generalised k-Truncated Suffix Tree for time-and space-efficient searches in multiple DNA or protein sequences. Int J Bioinform Res Appl (2008) 1.88
Escobar syndrome is a prenatal myasthenia caused by disruption of the acetylcholine receptor fetal gamma subunit. Am J Hum Genet (2006) 1.84
Cardiovascular manifestations in men and women carrying a FBN1 mutation. Eur Heart J (2010) 1.68
Clinical and molecular study of 320 children with Marfan syndrome and related type I fibrillinopathies in a series of 1009 probands with pathogenic FBN1 mutations. Pediatrics (2009) 1.67
Whole-exome sequencing in adult ETP-ALL reveals a high rate of DNMT3A mutations. Blood (2013) 1.65
Mutations in PIGO, a member of the GPI-anchor-synthesis pathway, cause hyperphosphatasia with mental retardation. Am J Hum Genet (2012) 1.65
Tissue Doppler imaging identifies myocardial dysfunction in adults with Marfan syndrome. Clin Cardiol (2007) 1.63
A case of paroxysmal nocturnal hemoglobinuria caused by a germline mutation and a somatic mutation in PIGT. Blood (2013) 1.61
TiO2 nanotube surfaces: 15 nm--an optimal length scale of surface topography for cell adhesion and differentiation. Small (2009) 1.60
Augmentation index relates to progression of aortic disease in adults with Marfan syndrome. Am J Hypertens (2009) 1.60
Sensory neuropathy with bone destruction due to a mutation in the membrane-shaping atlastin GTPase 3. Brain (2014) 1.55
Tumor vascularization and histopathologic regression of soft tissue sarcomas treated with isolated limb perfusion with TNF-α and melphalan. J Surg Oncol (2011) 1.51
Docetaxel and gemcitabine in the treatment of soft tissue sarcoma - a single-center experience. Onkologie (2008) 1.45
MicroRNAs differentially expressed in postnatal aortic development downregulate elastin via 3' UTR and coding-sequence binding sites. PLoS One (2011) 1.41
Marfan syndrome: an update of genetics, medical and surgical management. Heart (2007) 1.41
MouseFinder: Candidate disease genes from mouse phenotype data. Hum Mutat (2012) 1.41
High-throughput polymorphism detection and genotyping in Brassica napus using next-generation RAD sequencing. BMC Genomics (2012) 1.41
Loss-of-function mutations in the IL-21 receptor gene cause a primary immunodeficiency syndrome. J Exp Med (2013) 1.39
Mutations in WNT1 cause different forms of bone fragility. Am J Hum Genet (2013) 1.39
Phenotypic overlap in the contribution of individual genes to CNV pathogenicity revealed by cross-species computational analysis of single-gene mutations in humans, mice and zebrafish. Dis Model Mech (2012) 1.39
Ontological phenotype standards for neurogenetics. Hum Mutat (2012) 1.35
Amphiphilic TiO2 nanotube arrays: an actively controllable drug delivery system. J Am Chem Soc (2009) 1.35
A novel mutation in the DNA-binding domain of MAF at 16q23.1 associated with autosomal dominant "cerulean cataract" in an Indian family. Am J Med Genet A (2006) 1.34
RD-Connect: an integrated platform connecting databases, registries, biobanks and clinical bioinformatics for rare disease research. J Gen Intern Med (2014) 1.30
An inversion involving the mouse Shh locus results in brachydactyly through dysregulation of Shh expression. J Clin Invest (2005) 1.29
A molecular pathogenesis for transcription factor associated poly-alanine tract expansions. Hum Mol Genet (2004) 1.29
MRSA transmission on a neonatal intensive care unit: epidemiological and genome-based phylogenetic analyses. PLoS One (2013) 1.29
Neoadjuvant imatinib in locally advanced gastrointestinal stromal tumors (GIST): the EORTC STBSG experience. Ann Surg Oncol (2013) 1.28
CA8 mutations cause a novel syndrome characterized by ataxia and mild mental retardation with predisposition to quadrupedal gait. PLoS Genet (2009) 1.27
Cytokines and epilepsy. Seizure (2011) 1.26
In vivo evaluation of anodic TiO2 nanotubes: an experimental study in the pig. J Biomed Mater Res B Appl Biomater (2009) 1.24
Improving ontologies by automatic reasoning and evaluation of logical definitions. BMC Bioinformatics (2011) 1.24
Nanoscale engineering of biomimetic surfaces: cues from the extracellular matrix. Cell Tissue Res (2009) 1.23
Estimation of pairwise sequence similarity of mammalian enhancers with word neighbourhood counts. Bioinformatics (2012) 1.22
Deep sequencing of MYC DNA-binding sites in Burkitt lymphoma. PLoS One (2011) 1.22
Induction of macrophage chemotaxis by aortic extracts of the mgR Marfan mouse model and a GxxPG-containing fibrillin-1 fragment. Circulation (2006) 1.20
Inhibitors of deacetylases suppress oncogenic KIT signaling, acetylate HSP90, and induce apoptosis in gastrointestinal stromal tumors. Cancer Res (2009) 1.18
The allele distribution in next-generation sequencing data sets is accurately described as the result of a stochastic branching process. Nucleic Acids Res (2011) 1.18
PGAP2 mutations, affecting the GPI-anchor-synthesis pathway, cause hyperphosphatasia with mental retardation syndrome. Am J Hum Genet (2013) 1.17
Mechanism for release of alkaline phosphatase caused by glycosylphosphatidylinositol deficiency in patients with hyperphosphatasia mental retardation syndrome. J Biol Chem (2012) 1.16
Composite transcriptome assembly of RNA-seq data in a sheep model for delayed bone healing. BMC Genomics (2011) 1.13
TGGE screening of the entire FBN1 coding sequence in 126 individuals with marfan syndrome and related fibrillinopathies. Hum Mutat (2002) 1.13
RGD-containing fibrillin-1 fragments upregulate matrix metalloproteinase expression in cell culture: a potential factor in the pathogenesis of the Marfan syndrome. Hum Genet (2004) 1.12
Model-based gene set analysis for Bioconductor. Bioinformatics (2011) 1.11
Liposarcomas. Hematol Oncol Clin North Am (2013) 1.10
Detecting genomic indel variants with exact breakpoints in single- and paired-end sequencing data using SplazerS. Bioinformatics (2012) 1.10
Mutant Hoxd13 induces extra digits in a mouse model of synpolydactyly directly and by decreasing retinoic acid synthesis. J Clin Invest (2008) 1.09
Management and long-term outcome in patients presenting with ictal asystole or bradycardia. Epilepsia (2011) 1.09
Narrow window in nanoscale dependent activation of endothelial cell growth and differentiation on TiO2 nanotube surfaces. Nano Lett (2009) 1.09
Marfan syndrome with neonatal progeroid syndrome-like lipodystrophy associated with a novel frameshift mutation at the 3' terminus of the FBN1-gene. Am J Med Genet A (2010) 1.08
p53 modulation as a therapeutic strategy in gastrointestinal stromal tumors. PLoS One (2012) 1.08
Probabilistic error correction for RNA sequencing. Nucleic Acids Res (2013) 1.08
Deletions of chromosomal regulatory boundaries are associated with congenital disease. Genome Biol (2014) 1.07
Adhesion of osteoblasts to a nanorough titanium implant surface. Int J Nanomedicine (2011) 1.06
The spectrum of syndromes and manifestations in individuals screened for suspected Marfan syndrome. Am J Med Genet A (2008) 1.06
Anti-cancer and antibacterial trioxacarcins with high anti-malaria activity from a marine Streptomycete and their absolute stereochemistry. J Antibiot (Tokyo) (2004) 1.06
Conditional and reversible disruption of essential herpesvirus proteins. Nat Methods (2009) 1.06
Copy-number variations involving the IHH locus are associated with syndactyly and craniosynostosis. Am J Hum Genet (2010) 1.06
Bayesian ontology querying for accurate and noise-tolerant semantic searches. Bioinformatics (2012) 1.05