Published in Invest Ophthalmol Vis Sci on February 01, 2005
The IC3D classification of the corneal dystrophies. Cornea (2008) 3.46
Biological functions of the small leucine-rich proteoglycans: from genetics to signal transduction. J Biol Chem (2008) 2.53
Corneal dystrophies. Orphanet J Rare Dis (2009) 2.26
The molecular basis of corneal transparency. Exp Eye Res (2010) 2.08
Proteoglycan form and function: A comprehensive nomenclature of proteoglycans. Matrix Biol (2015) 1.91
Extracellular matrix molecules: potential targets in pharmacotherapy. Pharmacol Rev (2009) 1.90
Genetic evidence for the coordinated regulation of collagen fibrillogenesis in the cornea by decorin and biglycan. J Biol Chem (2009) 1.79
Comparative systems biology of human and mouse as a tool to guide the modeling of human placental pathology. Mol Syst Biol (2009) 1.23
Chromosome abnormalities and the genetics of congenital corneal opacification. Mol Vis (2011) 1.04
Collagen V is a dominant regulator of collagen fibrillogenesis: dysfunctional regulation of structure and function in a corneal-stroma-specific Col5a1-null mouse model. J Cell Sci (2011) 1.00
Fibromodulin regulates collagen fibrillogenesis during peripheral corneal development. Dev Dyn (2010) 0.98
LRRCE: a leucine-rich repeat cysteine capping motif unique to the chordate lineage. BMC Genomics (2008) 0.89
Pathophysiological mechanisms of autosomal dominant congenital stromal corneal dystrophy: C-terminal-truncated decorin results in abnormal matrix assembly and altered expression of small leucine-rich proteoglycans. Am J Pathol (2011) 0.87
Specific requirement of Gli transcription factors in Hedgehog-mediated intestinal development. J Biol Chem (2013) 0.83
Molecular description of eye defects in the zebrafish Pax6b mutant, sunrise, reveals a Pax6b-dependent genetic network in the developing anterior chamber. PLoS One (2015) 0.82
Intracellularly-retained decorin lacking the C-terminal ear repeat causes ER stress: a cell-based etiological mechanism for congenital stromal corneal dystrophy. Am J Pathol (2013) 0.81
Posterior amorphous corneal dystrophy is associated with a deletion of small leucine-rich proteoglycans on chromosome 12. PLoS One (2014) 0.80
A novel decorin gene mutation in congenital hereditary stromal dystrophy: a Korean family. Korean J Ophthalmol (2012) 0.80
Lumican Peptides: Rational Design Targeting ALK5/TGFBRI. Sci Rep (2017) 0.80
Candidate gene study to investigate the genetic determinants of normal variation in central corneal thickness. Mol Vis (2010) 0.79
Focus on molecules: decorin. Exp Eye Res (2010) 0.79
Linkage of posterior amorphous corneal dystrophy to chromosome 12q21.33 and exclusion of coding region mutations in KERA, LUM, DCN, and EPYC. Invest Ophthalmol Vis Sci (2010) 0.79
Role of integrins in the periodontal ligament: organizers and facilitators. Periodontol 2000 (2013) 0.78
Role of Decorin Core Protein in Collagen Organisation in Congenital Stromal Corneal Dystrophy (CSCD). PLoS One (2016) 0.77
Mechanisms of trophoblast migration, endometrial angiogenesis in preeclampsia: The role of decorin. Cell Adh Migr (2016) 0.77
Glycoproteomics Reveals Decorin Peptides With Anti-Myostatin Activity in Human Atrial Fibrillation. Circulation (2016) 0.76
Development of myotendinous-like junctions that anchor cardiac valves requires fibromodulin and lumican. Dev Dyn (2016) 0.75
The small leucine-rich repeat proteoglycans in tissue repair and atherosclerosis. J Intern Med (2015) 0.75
Small leucine-rich repeat proteoglycans in corneal inflammation and wound healing. Exp Eye Res (2016) 0.75
Current gene discovery strategies for ocular conditions. Invest Ophthalmol Vis Sci (2011) 0.75
Absence of the dermatan sulfate chain of decorin does not affect mouse development. J Negat Results Biomed (2017) 0.75
Pathophysiological Significance of Dermatan Sulfate Proteoglycans Revealed by Human Genetic Disorders. Pharmaceuticals (Basel) (2017) 0.75
Driver mutations in histone H3.3 and chromatin remodelling genes in paediatric glioblastoma. Nature (2012) 10.99
Hotspot mutations in H3F3A and IDH1 define distinct epigenetic and biological subgroups of glioblastoma. Cancer Cell (2012) 6.71
Genome-wide analysis of transcript isoform variation in humans. Nat Genet (2008) 6.70
Global patterns of cis variation in human cells revealed by high-density allelic expression analysis. Nat Genet (2009) 4.72
De novo germline and postzygotic mutations in AKT3, PIK3R2 and PIK3CA cause a spectrum of related megalencephaly syndromes. Nat Genet (2012) 4.51
K27M mutation in histone H3.3 defines clinically and biologically distinct subgroups of pediatric diffuse intrinsic pontine gliomas. Acta Neuropathol (2012) 4.00
Clonal selection drives genetic divergence of metastatic medulloblastoma. Nature (2012) 2.96
Heritability of alternative splicing in the human genome. Genome Res (2007) 2.76
Comment on "Widespread RNA and DNA sequence differences in the human transcriptome". Science (2012) 2.66
Recurrent somatic alterations of FGFR1 and NTRK2 in pilocytic astrocytoma. Nat Genet (2013) 2.42
Meta-analysis of genome scans of age-related macular degeneration. Hum Mol Genet (2005) 2.34
Mutations in WNT1 are a cause of osteogenesis imperfecta. J Med Genet (2013) 2.32
Frequent ATRX mutations and loss of expression in adult diffuse astrocytic tumors carrying IDH1/IDH2 and TP53 mutations. Acta Neuropathol (2012) 2.17
Familial diarrhea syndrome caused by an activating GUCY2C mutation. N Engl J Med (2012) 2.04
Ciliopathies with skeletal anomalies and renal insufficiency due to mutations in the IFT-A gene WDR19. Am J Hum Genet (2011) 1.98
Mutations in NMNAT1 cause Leber congenital amaurosis and identify a new disease pathway for retinal degeneration. Nat Genet (2012) 1.96
Mutations in ABHD12 cause the neurodegenerative disease PHARC: An inborn error of endocannabinoid metabolism. Am J Hum Genet (2010) 1.95
An international effort towards developing standards for best practices in analysis, interpretation and reporting of clinical genome sequencing results in the CLARITY Challenge. Genome Biol (2014) 1.95
Effect of polymorphisms within probe-target sequences on olignonucleotide microarray experiments. Nucleic Acids Res (2008) 1.80
Unexpected allelic heterogeneity and spectrum of mutations in Fowler syndrome revealed by next-generation exome sequencing. Hum Mutat (2010) 1.76
Gene expression and isoform variation analysis using Affymetrix Exon Arrays. BMC Genomics (2008) 1.76
Nucleotide frequency variation across human genes. Genome Res (2003) 1.68
Haploinsufficiency of SF3B4, a component of the pre-mRNA spliceosomal complex, causes Nager syndrome. Am J Hum Genet (2012) 1.63
Tissue effect on genetic control of transcript isoform variation. PLoS Genet (2009) 1.59
Three-dimensional structure of human tryptophan hydroxylase and its implications for the biosynthesis of the neurotransmitters serotonin and melatonin. Biochemistry (2002) 1.59
RNA sequencing reveals the role of splicing polymorphisms in regulating human gene expression. Genome Res (2010) 1.58
Estimating rates of alternative splicing in mammals and invertebrates. Nat Genet (2004) 1.57
Haploinsufficiency of a spliceosomal GTPase encoded by EFTUD2 causes mandibulofacial dysostosis with microcephaly. Am J Hum Genet (2012) 1.57
Characterization of intron loss events in mammals. Genome Res (2006) 1.56
Mutations in SETD2 and genes affecting histone H3K36 methylation target hemispheric high-grade gliomas. Acta Neuropathol (2013) 1.54
Whole-exome sequencing reveals a heterozygous LRP5 mutation in a 6-year-old boy with vertebral compression fractures and low trabecular bone density. Bone (2013) 1.52
Mutations in SYNGAP1 cause intellectual disability, autism, and a specific form of epilepsy by inducing haploinsufficiency. Hum Mutat (2012) 1.50
Effects of catheter ablation of idiopathic ventricular ectopic beats on left ventricular function and exercise capacity. Kardiol Pol (2009) 1.45
Exome sequencing identifies mutations in the gene TTC7A in French-Canadian cases with hereditary multiple intestinal atresia. J Med Genet (2013) 1.44
Surgical ablation for atrial fibrillation using the Ex-Maze III procedure on the beating heart in patients undergoing mitral valve surgery. Kardiol Pol (2011) 1.44
Mutations in PIK3R1 cause SHORT syndrome. Am J Hum Genet (2013) 1.43
Factors predisposing to ventricular tachyarrhythmia leading to appropriate ICD intervention in patients with coronary artery disease or non-ischaemic dilated cardiomyopathy. Kardiol Pol (2012) 1.42
Effect of selected prothrombotic and proinflammatory factors on the incidence of venous thrombosis after pacemaker implantation. Kardiol Pol (2012) 1.42
Association between selected risk factors and the incidence of venous obstruction after pacemaker implantation: demographic and clinical factors. Kardiol Pol (2011) 1.41
Mutations in KAT6B, encoding a histone acetyltransferase, cause Genitopatellar syndrome. Am J Hum Genet (2012) 1.39
Predictors of sinus rhythm return during defibrillation testing in patients with permanent atrial fibrillation undergoing implantation of a cardioverter-defibrillator. Kardiol Pol (2011) 1.38
Multicenter analysis of the SLC6A3/DAT1 VNTR haplotype in persistent ADHD suggests differential involvement of the gene in childhood and persistent ADHD. Neuropsychopharmacology (2009) 1.33
Intron loss and gain in Drosophila. Mol Biol Evol (2007) 1.33
Fine-scale variation and genetic determinants of alternative splicing across individuals. PLoS Genet (2009) 1.32
Mutations in SRCAP, encoding SNF2-related CREBBP activator protein, cause Floating-Harbor syndrome. Am J Hum Genet (2012) 1.32
Mutations in C5ORF42 cause Joubert syndrome in the French Canadian population. Am J Hum Genet (2012) 1.32
Evidence for codon bias selection at the pre-mRNA level in eukaryotes. Trends Genet (2004) 1.28
Mutations in ABCD4 cause a new inborn error of vitamin B12 metabolism. Nat Genet (2012) 1.26
Exome sequencing as a diagnostic tool for pediatric-onset ataxia. Hum Mutat (2014) 1.25
Mutations in TMEM231 cause Joubert syndrome in French Canadians. J Med Genet (2012) 1.23
Osteogenesis imperfecta type V: marked phenotypic variability despite the presence of the IFITM5 c.-14C>T mutation in all patients. J Med Genet (2013) 1.21
Autoimmune polyendocrine syndrome type 1 in Norway: phenotypic variation, autoantibodies, and novel mutations in the autoimmune regulator gene. J Clin Endocrinol Metab (2006) 1.19
The Sam68 STAR RNA-binding protein regulates mTOR alternative splicing during adipogenesis. Mol Cell (2012) 1.19
RNA editing of protein sequences: a rare event in human transcriptomes. RNA (2012) 1.18
FishingCNV: a graphical software package for detecting rare copy number variations in exome-sequencing data. Bioinformatics (2013) 1.16
MRI characterisation of adult onset alpha-methylacyl-coA racemase deficiency diagnosed by exome sequencing. Orphanet J Rare Dis (2013) 1.16
Polyadenylation-dependent control of long noncoding RNA expression by the poly(A)-binding protein nuclear 1. PLoS Genet (2012) 1.15
Cold-induced sweating syndrome is caused by mutations in the CRLF1 gene. Am J Hum Genet (2002) 1.14
No small surprise - small cell carcinoma of the ovary, hypercalcaemic type, is a malignant rhabdoid tumour. J Pathol (2014) 1.12
A second decorin frame shift mutation in a family with congenital stromal corneal dystrophy. Am J Ophthalmol (2006) 1.11
Whole-exome sequencing identifies novel ECHS1 mutations in Leigh syndrome. Hum Genet (2015) 1.06
[Re: A man in his forties with swelling in both orbits]. Tidsskr Nor Laegeforen (2014) 1.06
Mutations in SCARF2 are responsible for Van Den Ende-Gupta syndrome. Am J Hum Genet (2010) 1.06
Specific combination of compound heterozygous mutations in 17β-hydroxysteroid dehydrogenase type 4 (HSD17B4) defines a new subtype of D-bifunctional protein deficiency. Orphanet J Rare Dis (2012) 1.05
Inactivation of cardiotrophin-like cytokine, a second ligand for ciliary neurotrophic factor receptor, leads to cold-induced sweating syndrome in a patient. Proc Natl Acad Sci U S A (2006) 1.05
Brain-specific tryptophan hydroxylase 2 (TPH2): a functional Pro206Ser substitution and variation in the 5'-region are associated with bipolar affective disorder. Hum Mol Genet (2007) 1.05
Heart perforation in patients with permanent cardiac pacing - pilot personal observations. Arch Med Sci (2012) 1.05
Complex percutaneous extraction of a 15-year-old atrial lead dislodged into the subclavian vein. Arch Med Sci (2011) 1.04
Mutations in TMEM76* cause mucopolysaccharidosis IIIC (Sanfilippo C syndrome). Am J Hum Genet (2006) 1.01
ARHGDIA: a novel gene implicated in nephrotic syndrome. J Med Genet (2013) 1.01
Whole-exome sequencing identifies Coronin-1A deficiency in 3 siblings with immunodeficiency and EBV-associated B-cell lymphoproliferation. J Allergy Clin Immunol (2013) 1.00
Contribution of RIT1 mutations to the pathogenesis of Noonan syndrome: four new cases and further evidence of heterogeneity. Am J Med Genet A (2014) 1.00
Exome sequencing and genetic testing for MODY. PLoS One (2012) 1.00
Lack of an association of apolipoprotein E gene polymorphisms with familial age-related macular degeneration. Arch Ophthalmol (2003) 0.99
An RMND1 Mutation causes encephalopathy associated with multiple oxidative phosphorylation complex deficiencies and a mitochondrial translation defect. Am J Hum Genet (2012) 0.99
Different properties of the central and peripheral forms of human tryptophan hydroxylase. J Neurochem (2005) 0.99
Comparison of Affymetrix Gene Array with the Exon Array shows potential application for detection of transcript isoform variation. BMC Genomics (2009) 0.97
Phosphorylation and mutations of Ser(16) in human phenylalanine hydroxylase. Kinetic and structural effects. J Biol Chem (2002) 0.97
Alternative splicing is frequent during early embryonic development in mouse. BMC Genomics (2010) 0.95
Anaesthesia in children with osteogenesis imperfecta - report of 14 general anaesthetics in three children. Anaesthesiol Intensive Ther (2013) 0.95
Global gene expression profiling and tissue microarray reveal novel candidate genes and down-regulation of the tumor suppressor gene CAV1 in sporadic vestibular schwannomas. Neurosurgery (2010) 0.94
Identification of gene fusion transcripts by transcriptome sequencing in BRCA1-mutated breast cancers and cell lines. BMC Med Genomics (2011) 0.94
STUB1 mutations in autosomal recessive ataxias - evidence for mutation-specific clinical heterogeneity. Orphanet J Rare Dis (2014) 0.94
Mapping of a new candidate locus for uromodulin-associated kidney disease (UAKD) to chromosome 1q41. Kidney Int (2005) 0.94
Novel inborn error of folate metabolism: identification by exome capture and sequencing of mutations in the MTHFD1 gene in a single proband. J Med Genet (2011) 0.94
Strand bias in complementary single-nucleotide polymorphisms of transcribed human sequences: evidence for functional effects of synonymous polymorphisms. BMC Genomics (2006) 0.93
Mutations in STAMBP, encoding a deubiquitinating enzyme, cause microcephaly-capillary malformation syndrome. Nat Genet (2013) 0.93
Activation and stabilization of human tryptophan hydroxylase 2 by phosphorylation and 14-3-3 binding. Biochem J (2008) 0.93
A novel ADAMTSL4 mutation in autosomal recessive ectopia lentis et pupillae. Invest Ophthalmol Vis Sci (2010) 0.93