Published in Am J Hum Genet on December 15, 2011
Mutations in RAB28, encoding a farnesylated small GTPase, are associated with autosomal-recessive cone-rod dystrophy. Am J Hum Genet (2013) 1.03
Subretinal gene therapy of mice with Bardet-Biedl syndrome type 1. Invest Ophthalmol Vis Sci (2013) 1.01
The role of primary cilia in the development and disease of the retina. Organogenesis (2013) 0.98
Disruption of the basal body protein POC1B results in autosomal-recessive cone-rod dystrophy. Am J Hum Genet (2014) 0.97
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
Whole exome sequencing reveals GUCY2D as a major gene associated with cone and cone-rod dystrophy in Israel. Invest Ophthalmol Vis Sci (2014) 0.86
Autosomal recessive cone-rod dystrophy associated with compound heterozygous mutations in the EYS gene. Doc Ophthalmol (2014) 0.86
Mutations in C8ORF37 cause Bardet Biedl syndrome (BBS21). Hum Mol Genet (2016) 0.85
Exome sequencing of 47 chinese families with cone-rod dystrophy: mutations in 25 known causative genes. PLoS One (2013) 0.85
Homozygosity mapping in autosomal recessive retinitis pigmentosa families detects novel mutations. Mol Vis (2013) 0.85
The ADAMTS18 gene is responsible for autosomal recessive early onset severe retinal dystrophy. Orphanet J Rare Dis (2013) 0.84
Genetic architecture of retinal and macular degenerative diseases: the promise and challenges of next-generation sequencing. Genome Med (2013) 0.83
A non-stop S-antigen gene mutation is associated with late onset hereditary retinal degeneration in dogs. Mol Vis (2013) 0.83
Clinical characteristics of early retinal disease due to CDHR1 mutation. Mol Vis (2013) 0.80
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
Novel C8orf37 mutations cause retinitis pigmentosa in consanguineous families of Pakistani origin. Mol Vis (2015) 0.77
Loss of function mutations in RP1 are responsible for retinitis pigmentosa in consanguineous familial cases. Mol Vis (2016) 0.76
Pathogenic mutations in TULP1 responsible for retinitis pigmentosa identified in consanguineous familial cases. Mol Vis (2016) 0.76
Whole-exome sequencing reveals a novel frameshift mutation in the FAM161A gene causing autosomal recessive retinitis pigmentosa in the Indian population. J Hum Genet (2015) 0.76
Review of literature: genes related to postaxial polydactyly. Front Pediatr (2015) 0.75
A novel H395R mutation in MKKS/BBS6 causes retinitis pigmentosa and polydactyly without other findings of Bardet-Biedl or McKusick-Kaufman syndrome. Mol Vis (2016) 0.75
Animals deficient in C2Orf71, an autosomal recessive retinitis pigmentosa-associated locus, develop severe early-onset retinal degeneration. Hum Mol Genet (2015) 0.75
Genetic characterization and disease mechanism of retinitis pigmentosa; current scenario. 3 Biotech (2017) 0.75
Analysis of relative gene expression data using real-time quantitative PCR and the 2(-Delta Delta C(T)) Method. Methods (2001) 414.27
A new mathematical model for relative quantification in real-time RT-PCR. Nucleic Acids Res (2001) 124.61
New criteria for improved diagnosis of Bardet-Biedl syndrome: results of a population survey. J Med Genet (1999) 5.92
Detection of inherited mutations for breast and ovarian cancer using genomic capture and massively parallel sequencing. Proc Natl Acad Sci U S A (2010) 5.60
Mutations in the CEP290 (NPHP6) gene are a frequent cause of Leber congenital amaurosis. Am J Hum Genet (2006) 4.77
Hypomorphic mutations in syndromic encephalocele genes are associated with Bardet-Biedl syndrome. Nat Genet (2008) 4.68
Perspective on genes and mutations causing retinitis pigmentosa. Arch Ophthalmol (2007) 4.27
Cep164, a novel centriole appendage protein required for primary cilium formation. J Cell Biol (2007) 3.88
A common allele in RPGRIP1L is a modifier of retinal degeneration in ciliopathies. Nat Genet (2009) 3.36
Mechanistic insights into Bardet-Biedl syndrome, a model ciliopathy. J Clin Invest (2009) 3.19
Cone rod dystrophies. Orphanet J Rare Dis (2007) 2.73
The molecular basis of human retinal and vitreoretinal diseases. Prog Retin Eye Res (2010) 2.72
Massively parallel sequencing of ataxia genes after array-based enrichment. Hum Mutat (2010) 2.60
Mutations in the ABCA4 (ABCR) gene are the major cause of autosomal recessive cone-rod dystrophy. Am J Hum Genet (2000) 2.41
Epidemiology of retinitis pigmentosa in Denmark. Acta Ophthalmol Scand Suppl (2002) 2.38
Mutations in LCA5, encoding the ciliary protein lebercilin, cause Leber congenital amaurosis. Nat Genet (2007) 2.16
Homozygosity mapping in patients with cone-rod dystrophy: novel mutations and clinical characterizations. Invest Ophthalmol Vis Sci (2010) 1.98
Identification of a 2 Mb human ortholog of Drosophila eyes shut/spacemaker that is mutated in patients with retinitis pigmentosa. Am J Hum Genet (2008) 1.84
The cone dysfunction syndromes. Br J Ophthalmol (2004) 1.76
Identification of novel mutations in patients with Leber congenital amaurosis and juvenile RP by genome-wide homozygosity mapping with SNP microarrays. Invest Ophthalmol Vis Sci (2007) 1.54
A splice-site mutation in a retina-specific exon of BBS8 causes nonsyndromic retinitis pigmentosa. Am J Hum Genet (2010) 1.46
Evidence of RPGRIP1 gene mutations associated with recessive cone-rod dystrophy. J Med Genet (2003) 1.44
IQCB1 mutations in patients with leber congenital amaurosis. Invest Ophthalmol Vis Sci (2011) 1.43
Perceived and actual performance of daily tasks: relationship to visual function tests in individuals with retinitis pigmentosa. Ophthalmology (2001) 1.32
CERKL mutations cause an autosomal recessive cone-rod dystrophy with inner retinopathy. Invest Ophthalmol Vis Sci (2009) 1.21
Mutations in IMPG2, encoding interphotoreceptor matrix proteoglycan 2, cause autosomal-recessive retinitis pigmentosa. Am J Hum Genet (2010) 1.19
High-resolution homozygosity mapping is a powerful tool to detect novel mutations causative of autosomal recessive RP in the Dutch population. Invest Ophthalmol Vis Sci (2011) 1.18
Loss of the metalloprotease ADAM9 leads to cone-rod dystrophy in humans and retinal degeneration in mice. Am J Hum Genet (2009) 1.16
Mutations in PCDH21 cause autosomal recessive cone-rod dystrophy. J Med Genet (2010) 1.11
A Novel Familial BBS12 Mutation Associated with a Mild Phenotype: Implications for Clinical and Molecular Diagnostic Strategies. Mol Syndromol (2010) 0.99
CLRN1 mutations cause nonsyndromic retinitis pigmentosa. Ophthalmology (2011) 0.98
Functional analysis of BBS3 A89V that results in non-syndromic retinal degeneration. Hum Mol Genet (2011) 0.96
Population screening in a Druze community: the challenge and the reward. Genet Med (2008) 0.94
Bardet-biedl syndrome: an atypical phenotype in brothers with a proven BBS1 mutation. Ophthalmic Genet (2008) 0.93
Recurrent rearrangements of chromosome 1q21.1 and variable pediatric phenotypes. N Engl J Med (2008) 10.88
Diagnostic exome sequencing in persons with severe intellectual disability. N Engl J Med (2012) 10.80
Diagnostic genome profiling in mental retardation. Am J Hum Genet (2005) 8.60
A de novo paradigm for mental retardation. Nat Genet (2010) 8.57
Mutations in a new member of the chromodomain gene family cause CHARGE syndrome. Nat Genet (2004) 6.90
A new chromosome 17q21.31 microdeletion syndrome associated with a common inversion polymorphism. Nat Genet (2006) 5.92
Leber congenital amaurosis: genes, proteins and disease mechanisms. Prog Retin Eye Res (2008) 5.90
De novo mutations of SETBP1 cause Schinzel-Giedion syndrome. Nat Genet (2010) 5.72
Germline mutations in breast and ovarian cancer pedigrees establish RAD51C as a human cancer susceptibility gene. Nat Genet (2010) 5.48
Array-based comparative genomic hybridization for the genomewide detection of submicroscopic chromosomal abnormalities. Am J Hum Genet (2003) 5.43
Biallelic mutations in PALB2 cause Fanconi anemia subtype FA-N and predispose to childhood cancer. Nat Genet (2006) 5.12
Mutations in the CEP290 (NPHP6) gene are a frequent cause of Leber congenital amaurosis. Am J Hum Genet (2006) 4.77
Hypomorphic mutations in syndromic encephalocele genes are associated with Bardet-Biedl syndrome. Nat Genet (2008) 4.68
The BRCA1-interacting helicase BRIP1 is deficient in Fanconi anemia. Nat Genet (2005) 4.13
Candidate exome capture identifies mutation of SDCCAG8 as the cause of a retinal-renal ciliopathy. Nat Genet (2010) 3.99
Identification of common variants associated with human hippocampal and intracranial volumes. Nat Genet (2012) 3.73
Mutation of the RAD51C gene in a Fanconi anemia-like disorder. Nat Genet (2010) 3.57
Characterization of a recurrent 15q24 microdeletion syndrome. Hum Mol Genet (2007) 3.54
Exome sequencing identifies WDR35 variants involved in Sensenbrenner syndrome. Am J Hum Genet (2010) 3.47
A common allele in RPGRIP1L is a modifier of retinal degeneration in ciliopathies. Nat Genet (2009) 3.36
OPA1 mutations induce mitochondrial DNA instability and optic atrophy 'plus' phenotypes. Brain (2007) 3.35
Mutations in the gene encoding the basal body protein RPGRIP1L, a nephrocystin-4 interactor, cause Joubert syndrome. Nat Genet (2007) 3.22
STAT1 mutations in autosomal dominant chronic mucocutaneous candidiasis. N Engl J Med (2011) 3.11
Directed differentiation of human embryonic stem cells into functional retinal pigment epithelium cells. Cell Stem Cell (2009) 3.09
Disease gene identification strategies for exome sequencing. Eur J Hum Genet (2012) 2.89
Retinitis pigmentosa and allied diseases: numerous diseases, genes, and inheritance patterns. Hum Mol Genet (2002) 2.84
POMT2 mutations cause alpha-dystroglycan hypoglycosylation and Walker-Warburg syndrome. J Med Genet (2005) 2.80
Exome sequencing identifies truncating mutations in human SERPINF1 in autosomal-recessive osteogenesis imperfecta. Am J Hum Genet (2011) 2.69
CC2D2A is mutated in Joubert syndrome and interacts with the ciliopathy-associated basal body protein CEP290. Am J Hum Genet (2008) 2.68
Unlocking Mendelian disease using exome sequencing. Genome Biol (2011) 2.62
Recurrent CNVs disrupt three candidate genes in schizophrenia patients. Am J Hum Genet (2008) 2.61
Massively parallel sequencing of ataxia genes after array-based enrichment. Hum Mutat (2010) 2.60
OPA1 mutations associated with dominant optic atrophy impair oxidative phosphorylation and mitochondrial fusion. Brain (2008) 2.57
Exome capture reveals ZNF423 and CEP164 mutations, linking renal ciliopathies to DNA damage response signaling. Cell (2012) 2.54
FANCI is a second monoubiquitinated member of the Fanconi anemia pathway. Nat Struct Mol Biol (2007) 2.47
Mutations in RDH12 encoding a photoreceptor cell retinol dehydrogenase cause childhood-onset severe retinal dystrophy. Nat Genet (2004) 2.40
PCR-based DNA test to confirm clinical diagnosis of autosomal recessive spinal muscular atrophy. Lancet (1995) 2.40
CNGB3 mutations account for 50% of all cases with autosomal recessive achromatopsia. Eur J Hum Genet (2005) 2.37
Deletions of the survival motor neuron gene in unaffected siblings of patients with spinal muscular atrophy. Am J Hum Genet (1995) 2.33
Activating mutation of the renal epithelial chloride channel ClC-Kb predisposing to hypertension. Hypertension (2004) 2.32
Usher syndrome: molecular links of pathogenesis, proteins and pathways. Hum Mol Genet (2006) 2.30
Next-generation genetic testing for retinitis pigmentosa. Hum Mutat (2012) 2.30
Molecular genetics of Leber congenital amaurosis. Hum Mol Genet (2002) 2.29
Next-generation sequencing of a 40 Mb linkage interval reveals TSPAN12 mutations in patients with familial exudative vitreoretinopathy. Am J Hum Genet (2010) 2.26
Retinal phenotypes in patients homozygous for the G1961E mutation in the ABCA4 gene. Invest Ophthalmol Vis Sci (2012) 2.26
Genotyping microarray (disease chip) for Leber congenital amaurosis: detection of modifier alleles. Invest Ophthalmol Vis Sci (2005) 2.20
Mutations in LCA5, encoding the ciliary protein lebercilin, cause Leber congenital amaurosis. Nat Genet (2007) 2.16
Genome-wide profiling of p63 DNA-binding sites identifies an element that regulates gene expression during limb development in the 7q21 SHFM1 locus. PLoS Genet (2010) 2.14
Rescue of retinal degeneration by intravitreally injected adult bone marrow-derived lineage-negative hematopoietic stem cells. J Clin Invest (2004) 2.13
Lighting a candle in the dark: advances in genetics and gene therapy of recessive retinal dystrophies. J Clin Invest (2010) 2.13
The spectrum of retinal phenotypes caused by mutations in the ABCA4 gene. Graefes Arch Clin Exp Ophthalmol (2004) 2.12
Mutations in the phospholipid remodeling gene SERAC1 impair mitochondrial function and intracellular cholesterol trafficking and cause dystonia and deafness. Nat Genet (2012) 2.12
A novel Usher protein network at the periciliary reloading point between molecular transport machineries in vertebrate photoreceptor cells. Hum Mol Genet (2007) 2.11
Mutations in the cone photoreceptor G-protein alpha-subunit gene GNAT2 in patients with achromatopsia. Am J Hum Genet (2002) 2.10
De novo nonsense mutations in ASXL1 cause Bohring-Opitz syndrome. Nat Genet (2011) 2.09
Allergy is a protective factor against age-related macular degeneration. Invest Ophthalmol Vis Sci (2014) 2.09
A post-hoc comparison of the utility of sanger sequencing and exome sequencing for the diagnosis of heterogeneous diseases. Hum Mutat (2013) 2.07
L1 retrotransposition can occur early in human embryonic development. Hum Mol Genet (2007) 2.04
Mutations of the CEP290 gene encoding a centrosomal protein cause Meckel-Gruber syndrome. Hum Mutat (2008) 2.03
In vivo confocal imaging of the retina in animal models using scanning laser ophthalmoscopy. Vision Res (2005) 2.02
FAAP100 is essential for activation of the Fanconi anemia-associated DNA damage response pathway. EMBO J (2007) 2.00
Cone dystrophy with supernormal rod response: novel KCNV2 mutations in an underdiagnosed phenotype. Ophthalmology (2013) 1.99
Homozygosity mapping in patients with cone-rod dystrophy: novel mutations and clinical characterizations. Invest Ophthalmol Vis Sci (2010) 1.98
Ciliopathies with skeletal anomalies and renal insufficiency due to mutations in the IFT-A gene WDR19. Am J Hum Genet (2011) 1.98
The spectrum of ocular phenotypes caused by mutations in the BEST1 gene. Prog Retin Eye Res (2009) 1.94