Published in Am J Hum Genet on April 30, 2009
Transcriptome analysis and molecular signature of human retinal pigment epithelium. Hum Mol Genet (2010) 2.20
Homozygosity mapping in patients with cone-rod dystrophy: novel mutations and clinical characterizations. Invest Ophthalmol Vis Sci (2010) 1.98
MicroRNA-204/211 alters epithelial physiology. FASEB J (2010) 1.83
Mutations in IMPG2, encoding interphotoreceptor matrix proteoglycan 2, cause autosomal-recessive retinitis pigmentosa. Am J Hum Genet (2010) 1.19
Genetic and phenotypic variations of inherited retinal diseases in dogs: the power of within- and across-breed studies. Mamm Genome (2011) 1.16
Mutations in C8orf37, encoding a ciliary protein, are associated with autosomal-recessive retinal dystrophies with early macular involvement. Am J Hum Genet (2011) 1.12
Mutations in PCDH21 cause autosomal recessive cone-rod dystrophy. J Med Genet (2010) 1.11
Identification of novel substrates for the serine protease HTRA1 in the human RPE secretome. Invest Ophthalmol Vis Sci (2010) 1.08
Mutations in RAB28, encoding a farnesylated small GTPase, are associated with autosomal-recessive cone-rod dystrophy. Am J Hum Genet (2013) 1.03
An ADAM9 mutation in canine cone-rod dystrophy 3 establishes homology with human cone-rod dystrophy 9. Mol Vis (2010) 0.99
Conservation and divergence of ADAM family proteins in the Xenopus genome. BMC Evol Biol (2010) 0.91
A novel splice site mutation of CDHR1 in a consanguineous Israeli Christian Arab family segregating autosomal recessive cone-rod dystrophy. Mol Vis (2012) 0.88
Exome sequencing of 47 chinese families with cone-rod dystrophy: mutations in 25 known causative genes. PLoS One (2013) 0.85
The molecular basis of retinal dystrophies in pakistan. Genes (Basel) (2014) 0.85
The genetics of eye disorders in the dog. Canine Genet Epidemiol (2014) 0.82
Retinal dystrophies, genomic applications in diagnosis and prospects for therapy. Transl Pediatr (2015) 0.79
Homozygous missense variant in the human CNGA3 channel causes cone-rod dystrophy. Eur J Hum Genet (2014) 0.78
A Disintegrin and Metalloprotease (ADAM): Historical Overview of Their Functions. Toxins (Basel) (2016) 0.77
Evolution of Vertebrate Adam Genes; Duplication of Testicular Adams from Ancient Adam9/9-like Loci. PLoS One (2015) 0.76
A Disintegrin and Metalloproteinase10 (ADAM10) Regulates NOTCH Signaling during Early Retinal Development. PLoS One (2016) 0.75
Brain Transcriptome Sequencing of a Natural Model of Alzheimer's Disease. Front Aging Neurosci (2017) 0.75
Animal modelling for inherited central vision loss. J Pathol (2015) 0.75
Expression profiling of the RPE in zebrafish smarca4 mutant revealed altered signals that potentially affect RPE and retinal differentiation. Mol Vis (2014) 0.75
Deletion of ADAM-9 in HGF/CDK4 mice impairs melanoma development and metastasis. Oncogene (2017) 0.75
Interchromosomal associations between alternatively expressed loci. Nature (2005) 7.45
HTRA1 promoter polymorphism in wet age-related macular degeneration. Science (2006) 7.12
Hypothetical LOC387715 is a second major susceptibility gene for age-related macular degeneration, contributing independently of complement factor H to disease risk. Hum Mol Genet (2005) 6.36
A variant of the HTRA1 gene increases susceptibility to age-related macular degeneration. Science (2006) 5.67
Susceptibility genes for age-related maculopathy on chromosome 10q26. Am J Hum Genet (2005) 4.91
The ADAM metalloproteinases. Mol Aspects Med (2008) 4.34
Age-related macular degeneration is associated with an unstable ARMS2 (LOC387715) mRNA. Nat Genet (2008) 4.16
Autosomal recessive retinitis pigmentosa and cone-rod dystrophy caused by splice site mutations in the Stargardt's disease gene ABCR. Hum Mol Genet (1998) 3.93
A single EFEMP1 mutation associated with both Malattia Leventinese and Doyne honeycomb retinal dystrophy. Nat Genet (1999) 3.32
Missense variations in the fibulin 5 gene and age-related macular degeneration. N Engl J Med (2004) 3.15
Mutations in the tissue inhibitor of metalloproteinases-3 (TIMP3) in patients with Sorsby's fundus dystrophy. Nat Genet (1994) 3.11
Phagocytosis of rod outer segments by retinal pigment epithelial cells requires alpha(v)beta5 integrin for binding but not for internalization. Proc Natl Acad Sci U S A (1997) 2.99
UV- and midwave-sensitive cone-driven retinal responses of the mouse: a possible phenotype for coexpression of cone photopigments. J Neurosci (1999) 2.79
The Alzheimer's A beta -peptide is deposited at sites of complement activation in pathologic deposits associated with aging and age-related macular degeneration. Proc Natl Acad Sci U S A (2002) 2.74
Analysis of the ARMD1 locus: evidence that a mutation in HEMICENTIN-1 is associated with age-related macular degeneration in a large family. Hum Mol Genet (2003) 2.72
Age-related maculopathy: a genomewide scan with continued evidence of susceptibility loci within the 1q31, 10q26, and 17q25 regions. Am J Hum Genet (2004) 2.58
Loss of synchronized retinal phagocytosis and age-related blindness in mice lacking alphavbeta5 integrin. J Exp Med (2004) 2.42
Mutations in the ABCA4 (ABCR) gene are the major cause of autosomal recessive cone-rod dystrophy. Am J Hum Genet (2000) 2.41
A full genome scan for age-related maculopathy. Hum Mol Genet (2000) 1.96
X-linked cone-rod dystrophy (locus COD1): identification of mutations in RPGR exon ORF15. Am J Hum Genet (2002) 1.62
Putative function of ADAM9, ADAM10, and ADAM17 as APP alpha-secretase. Biochem Biophys Res Commun (2003) 1.58
Mice lacking the metalloprotease-disintegrin MDC9 (ADAM9) have no evident major abnormalities during development or adult life. Mol Cell Biol (2002) 1.56
Evidence of RPGRIP1 gene mutations associated with recessive cone-rod dystrophy. J Med Genet (2003) 1.44
RP1 is required for the correct stacking of outer segment discs. Invest Ophthalmol Vis Sci (2003) 1.42
The disintegrin-metalloproteinases ADAM9, ADAM12, and ADAM15 are upregulated in gastric cancer. Int J Oncol (2005) 1.31
Novel role for alphavbeta5-integrin in retinal adhesion and its diurnal peak. Am J Physiol Cell Physiol (2005) 1.26
Identification of novel RPGR ORF15 mutations in X-linked progressive cone-rod dystrophy (XLCORD) families. Invest Ophthalmol Vis Sci (2005) 1.25
Vitronectin receptor expression and distribution at the photoreceptor-retinal pigment epithelial interface. J Comp Neurol (1995) 1.21
Critical function for ADAM9 in mouse prostate cancer. Cancer Res (2005) 1.14
The enzymatic activity of ADAM8 and ADAM9 is not regulated by TIMPs. FEBS Lett (2002) 1.13
The ABCA4 gene in autosomal recessive cone-rod dystrophies. Am J Hum Genet (2002) 1.12
CORD9 a new locus for arCRD: mapping to 8p11, estimation of frequency, evaluation of a candidate gene. Invest Ophthalmol Vis Sci (2001) 1.11
ADAM9 expression in pancreatic cancer is associated with tumour type and is a prognostic factor in ductal adenocarcinoma. Br J Cancer (2004) 1.11
MDC-9 (ADAM-9/Meltrin gamma) functions as an adhesion molecule by binding the alpha(v)beta(5) integrin. Biochem Biophys Res Commun (2001) 1.07
Altered visual function in monocarboxylate transporter 3 (Slc16a8) knockout mice. Am J Physiol Cell Physiol (2008) 1.01
A mouse model for Sorsby fundus dystrophy. Invest Ophthalmol Vis Sci (2002) 0.96
Novel locus for autosomal recessive cone-rod dystrophy CORD8 mapping to chromosome 1q12-Q24. Invest Ophthalmol Vis Sci (2000) 0.95
The disintegrin domain of ADAM9: a ligand for multiple beta1 renal integrins. Biochem J (2005) 0.95
Cloning and expression in Pichia pastoris of metalloprotease domain of ADAM 9 catalytically active against fibronectin. Protein Expr Purif (2001) 0.87
Downregulated expression of ADAM9 in anterior polar cataracts. J Cataract Refract Surg (2002) 0.84
Genomewide association analysis of coronary artery disease. N Engl J Med (2007) 24.38
Safety and efficacy of gene transfer for Leber's congenital amaurosis. N Engl J Med (2008) 17.21
Mutations in LRRK2 cause autosomal-dominant parkinsonism with pleomorphic pathology. Neuron (2004) 14.35
Transcriptome and genome sequencing uncovers functional variation in humans. Nature (2013) 8.89
Treatment of leber congenital amaurosis due to RPE65 mutations by ocular subretinal injection of adeno-associated virus gene vector: short-term results of a phase I trial. Hum Gene Ther (2008) 8.83
Range of genetic mutations associated with severe non-syndromic sporadic intellectual disability: an exome sequencing study. Lancet (2012) 8.42
Human gene therapy for RPE65 isomerase deficiency activates the retinoid cycle of vision but with slow rod kinetics. Proc Natl Acad Sci U S A (2008) 7.16
An SCN9A channelopathy causes congenital inability to experience pain. Nature (2006) 7.01
Age-dependent effects of RPE65 gene therapy for Leber's congenital amaurosis: a phase 1 dose-escalation trial. Lancet (2009) 6.71
Comparative analysis of RNA-Seq alignment algorithms and the RNA-Seq unified mapper (RUM). Bioinformatics (2011) 6.20
Mutations in the gene encoding the 3'-5' DNA exonuclease TREX1 cause Aicardi-Goutières syndrome at the AGS1 locus. Nat Genet (2006) 6.15
Mutations in VKORC1 cause warfarin resistance and multiple coagulation factor deficiency type 2. Nature (2004) 5.95
Mutations involved in Aicardi-Goutières syndrome implicate SAMHD1 as regulator of the innate immune response. Nat Genet (2009) 5.84
A centrosomal mechanism involving CDK5RAP2 and CENPJ controls brain size. Nat Genet (2005) 5.48
Distinct roles for ADAM10 and ADAM17 in ectodomain shedding of six EGFR ligands. J Cell Biol (2004) 5.44
Mutations in genes encoding ribonuclease H2 subunits cause Aicardi-Goutières syndrome and mimic congenital viral brain infection. Nat Genet (2006) 5.26
Mutations in the CEP290 (NPHP6) gene are a frequent cause of Leber congenital amaurosis. Am J Hum Genet (2006) 4.77
Long-term restoration of rod and cone vision by single dose rAAV-mediated gene transfer to the retina in a canine model of childhood blindness. Mol Ther (2005) 4.74
Mutant adenosine deaminase 2 in a polyarteritis nodosa vasculopathy. N Engl J Med (2014) 4.70
Hypomorphic mutations in syndromic encephalocele genes are associated with Bardet-Biedl syndrome. Nat Genet (2008) 4.68
The ciliary gene RPGRIP1L is mutated in cerebello-oculo-renal syndrome (Joubert syndrome type B) and Meckel syndrome. Nat Genet (2007) 4.63
ASPM is a major determinant of cerebral cortical size. Nat Genet (2002) 4.57
A mutation in VPS35, encoding a subunit of the retromer complex, causes late-onset Parkinson disease. Am J Hum Genet (2011) 4.52
DMP1 mutations in autosomal recessive hypophosphatemia implicate a bone matrix protein in the regulation of phosphate homeostasis. Nat Genet (2006) 4.49
Genetic loci associated with delayed clearance of Plasmodium falciparum following artemisinin treatment in Southeast Asia. Proc Natl Acad Sci U S A (2012) 4.10
Candidate exome capture identifies mutation of SDCCAG8 as the cause of a retinal-renal ciliopathy. Nat Genet (2010) 3.99
Gene therapy for Leber's congenital amaurosis is safe and effective through 1.5 years after vector administration. Mol Ther (2009) 3.93
Polymorphisms in FKBP5 are associated with increased recurrence of depressive episodes and rapid response to antidepressant treatment. Nat Genet (2004) 3.91
Exome sequencing reveals de novo WDR45 mutations causing a phenotypically distinct, X-linked dominant form of NBIA. Am J Hum Genet (2012) 3.80
G proteins and phototransduction. Annu Rev Physiol (2002) 3.74
Mutations in TMEM216 perturb ciliogenesis and cause Joubert, Meckel and related syndromes. Nat Genet (2010) 3.66
The proteome of the mouse photoreceptor sensory cilium complex. Mol Cell Proteomics (2007) 3.53
Quantification of homozygosity in consanguineous individuals with autosomal recessive disease. Am J Hum Genet (2006) 3.52
Pleiotropic effects of CEP290 (NPHP6) mutations extend to Meckel syndrome. Am J Hum Genet (2007) 3.42
An FGF23 missense mutation causes familial tumoral calcinosis with hyperphosphatemia. Hum Mol Genet (2004) 3.42
A common allele in RPGRIP1L is a modifier of retinal degeneration in ciliopathies. Nat Genet (2009) 3.36
Adam meets Eph: an ADAM substrate recognition module acts as a molecular switch for ephrin cleavage in trans. Cell (2005) 3.34
Mutation in the neuronal voltage-gated sodium channel SCN1A in familial hemiplegic migraine. Lancet (2005) 3.27
The transmembrane protein meckelin (MKS3) is mutated in Meckel-Gruber syndrome and the wpk rat. Nat Genet (2006) 3.19
Identification of microcephalin, a protein implicated in determining the size of the human brain. Am J Hum Genet (2002) 3.13
Massive light-driven translocation of transducin between the two major compartments of rod cells: a novel mechanism of light adaptation. Neuron (2002) 3.09
Directed differentiation of human embryonic stem cells into functional retinal pigment epithelium cells. Cell Stem Cell (2009) 3.09
Human RPE65 gene therapy for Leber congenital amaurosis: persistence of early visual improvements and safety at 1 year. Hum Gene Ther (2009) 3.07
Purtscher's retinopathy: epidemiology, clinical features and outcome. Br J Ophthalmol (2007) 3.06
The Meckel-Gruber Syndrome proteins MKS1 and meckelin interact and are required for primary cilium formation. Hum Mol Genet (2006) 3.06
TTC21B contributes both causal and modifying alleles across the ciliopathy spectrum. Nat Genet (2011) 3.06
Physiological features of the S- and M-cone photoreceptors of wild-type mice from single-cell recordings. J Gen Physiol (2006) 3.00
Age-related macular degeneration: a high-resolution genome scan for susceptibility loci in a population enriched for late-stage disease. Am J Hum Genet (2004) 2.97
PLA2G6, encoding a phospholipase A2, is mutated in neurodegenerative disorders with high brain iron. Nat Genet (2006) 2.97
The Meckel-Gruber syndrome gene, MKS3, is mutated in Joubert syndrome. Am J Hum Genet (2006) 2.96
Identification of the gene (BBS1) most commonly involved in Bardet-Biedl syndrome, a complex human obesity syndrome. Nat Genet (2002) 2.94
Planar cell polarity acts through septins to control collective cell movement and ciliogenesis. Science (2010) 2.89
Leukoencephalopathy with thalamus and brainstem involvement and high lactate 'LTBL' caused by EARS2 mutations. Brain (2012) 2.87
AAV2 gene therapy readministration in three adults with congenital blindness. Sci Transl Med (2012) 2.87
Autosomal recessive primary microcephaly (MCPH): a review of clinical, molecular, and evolutionary findings. Am J Hum Genet (2005) 2.86
Retinitis pigmentosa and allied diseases: numerous diseases, genes, and inheritance patterns. Hum Mol Genet (2002) 2.84
Somatic mutations in ATP1A1 and ATP2B3 lead to aldosterone-producing adenomas and secondary hypertension. Nat Genet (2013) 2.83
Impairment of the transient pupillary light reflex in Rpe65(-/-) mice and humans with leber congenital amaurosis. Invest Ophthalmol Vis Sci (2004) 2.72
Human retinal gene therapy for Leber congenital amaurosis shows advancing retinal degeneration despite enduring visual improvement. Proc Natl Acad Sci U S A (2013) 2.71
Mutations in LRP5 or FZD4 underlie the common familial exudative vitreoretinopathy locus on chromosome 11q. Am J Hum Genet (2004) 2.70
Polypeptide GalNAc-transferase T3 and familial tumoral calcinosis. Secretion of fibroblast growth factor 23 requires O-glycosylation. J Biol Chem (2006) 2.68
Calmodulin mutations associated with recurrent cardiac arrest in infants. Circulation (2013) 2.66
Mutations in the cilia gene ARL13B lead to the classical form of Joubert syndrome. Am J Hum Genet (2008) 2.65
Transfer of microRNAs by embryonic stem cell microvesicles. PLoS One (2009) 2.64
Vision 1 year after gene therapy for Leber's congenital amaurosis. N Engl J Med (2009) 2.57
In utero gene therapy rescues vision in a murine model of congenital blindness. Mol Ther (2004) 2.56
Exome capture reveals ZNF423 and CEP164 mutations, linking renal ciliopathies to DNA damage response signaling. Cell (2012) 2.54
Cutting edge: TNF-alpha-converting enzyme (TACE/ADAM17) inactivation in mouse myeloid cells prevents lethality from endotoxin shock. J Immunol (2007) 2.53
Cone-like morphological, molecular, and electrophysiological features of the photoreceptors of the Nrl knockout mouse. Invest Ophthalmol Vis Sci (2005) 2.51
ADAMs 10 and 17 represent differentially regulated components of a general shedding machinery for membrane proteins such as transforming growth factor alpha, L-selectin, and tumor necrosis factor alpha. Mol Biol Cell (2009) 2.46
Targeted next-generation sequencing for the molecular genetic diagnostics of cardiomyopathies. Circ Cardiovasc Genet (2011) 2.45
From candelas to photoisomerizations in the mouse eye by rhodopsin bleaching in situ and the light-rearing dependence of the major components of the mouse ERG. Vision Res (2004) 2.44
Substrate selectivity of epidermal growth factor-receptor ligand sheddases and their regulation by phorbol esters and calcium influx. Mol Biol Cell (2006) 2.43
In search of partners: linking extracellular proteases to substrates. Nat Rev Mol Cell Biol (2007) 2.37
CNGB3 mutations account for 50% of all cases with autosomal recessive achromatopsia. Eur J Hum Genet (2005) 2.37
Light-driven translocation of signaling proteins in vertebrate photoreceptors. Trends Cell Biol (2006) 2.36
Null mutations in LTBP2 cause primary congenital glaucoma. Am J Hum Genet (2009) 2.35