scholarly article | Q13442814 |
P6179 | Dimensions Publication ID | 1012925226 |
P356 | DOI | 10.1186/GM488 |
P932 | PMC publication ID | 4066589 |
P698 | PubMed publication ID | 24112618 |
P50 | author | Anand Swaroop | Q30506132 |
Rinki Ratnapriya | Q83230798 | ||
P2860 | cites work | Mutations in NMNAT1 cause Leber congenital amaurosis and identify a new disease pathway for retinal degeneration | Q24624430 |
Evolution of the vertebrate eye: opsins, photoreceptors, retina and eye cup | Q24629683 | ||
Paired-end mapping reveals extensive structural variation in the human genome | Q24653260 | ||
Extended haplotypes in the complement factor H (CFH) and CFH-related (CFHR) family of genes protect against age-related macular degeneration: characterization, ethnic distribution and evolutionary implications | Q24681724 | ||
Exome sequencing and complex disease: practical aspects of rare variant association studies | Q27027055 | ||
Identification and functional analysis of the vision-specific BBS3 (ARL6) long isoform | Q27347938 | ||
Sequencing technologies - the next generation | Q27860568 | ||
Alternative isoform regulation in human tissue transcriptomes | Q27861118 | ||
RPGR transcription studies in mouse and human tissues reveal a retina-specific isoform that is disrupted in a patient with X-linked retinitis pigmentosa | Q28139362 | ||
Extremely discordant sib-pair study design to determine risk factors for neovascular age-related macular degeneration | Q28168194 | ||
Mutations in the tissue inhibitor of metalloproteinases-3 (TIMP3) in patients with Sorsby's fundus dystrophy | Q28236562 | ||
Ciliopathies with skeletal anomalies and renal insufficiency due to mutations in the IFT-A gene WDR19 | Q28251106 | ||
A common CFH haplotype, with deletion of CFHR1 and CFHR3, is associated with lower risk of age-related macular degeneration | Q28265296 | ||
Mutations in NMNAT1 cause Leber congenital amaurosis with early-onset severe macular and optic atrophy | Q28271973 | ||
Exome sequencing identifies NMNAT1 mutations as a cause of Leber congenital amaurosis | Q28271982 | ||
Genetic mapping and exome sequencing identify variants associated with five novel diseases | Q28478905 | ||
AHI1 is required for photoreceptor outer segment development and is a modifier for retinal degeneration in nephronophthisis | Q28509528 | ||
The noncoding RNA taurine upregulated gene 1 is required for differentiation of the murine retina | Q28589446 | ||
Cis-regulatory elements: molecular mechanisms and evolutionary processes underlying divergence | Q29032100 | ||
Mutations in RAB28, encoding a farnesylated small GTPase, are associated with autosomal-recessive cone-rod dystrophy | Q29144258 | ||
Mutations in C8orf37, encoding a ciliary protein, are associated with autosomal-recessive retinal dystrophies with early macular involvement | Q29147474 | ||
Seven new loci associated with age-related macular degeneration | Q29416998 | ||
Solution hybrid selection with ultra-long oligonucleotides for massively parallel targeted sequencing | Q29614576 | ||
Ciliopathies | Q29614821 | ||
RNA processing and its regulation: global insights into biological networks | Q29615182 | ||
Exome sequencing as a tool for Mendelian disease gene discovery | Q29615382 | ||
Common and rare variants in multifactorial susceptibility to common diseases | Q29616282 | ||
Computational neuroanatomy of speech production. | Q30360356 | ||
Next-generation sequencing of a 40 Mb linkage interval reveals TSPAN12 mutations in patients with familial exudative vitreoretinopathy | Q33645942 | ||
DNA methylation is associated with altered gene expression in AMD. | Q33939754 | ||
Needles in stacks of needles: finding disease-causal variants in a wealth of genomic data | Q33995474 | ||
Human photoreceptor topography | Q34034782 | ||
A 32 kb critical region excluding Y402H in CFH mediates risk for age-related macular degeneration | Q34055667 | ||
Exome sequencing identifies ZNF644 mutations in high myopia | Q21092428 | ||
The long noncoding RNA Six3OS acts in trans to regulate retinal development by modulating Six3 activity | Q21203074 | ||
Whole-exome sequencing identifies mutations in GPR179 leading to autosomal-recessive complete congenital stationary night blindness | Q21710708 | ||
Genetic diagnosis by whole exome capture and massively parallel DNA sequencing | Q22066282 | ||
Fine-scale structural variation of the human genome | Q22122044 | ||
An integrated encyclopedia of DNA elements in the human genome | Q22122150 | ||
An integrated map of genetic variation from 1,092 human genomes | Q22122153 | ||
Finding the missing heritability of complex diseases | Q22122198 | ||
Are rare variants responsible for susceptibility to complex diseases? | Q22337172 | ||
Molecular genetics of human color vision: the genes encoding blue, green, and red pigments | Q24294339 | ||
Natural antisense transcripts associated with genes involved in eye development | Q24294557 | ||
Exome capture reveals ZNF423 and CEP164 mutations, linking renal ciliopathies to DNA damage response signaling | Q24294774 | ||
TMEM237 is mutated in individuals with a Joubert syndrome related disorder and expands the role of the TMEM family at the ciliary transition zone | Q24299114 | ||
Candidate exome capture identifies mutation of SDCCAG8 as the cause of a retinal-renal ciliopathy | Q24299464 | ||
GPR179 is required for depolarizing bipolar cell function and is mutated in autosomal-recessive complete congenital stationary night blindness | Q24305072 | ||
Combining Cep290 and Mkks ciliopathy alleles in mice rescues sensory defects and restores ciliogenesis | Q24309344 | ||
A common allele in RPGRIP1L is a modifier of retinal degeneration in ciliopathies | Q24309499 | ||
PDZD7 is a modifier of retinal disease and a contributor to digenic Usher syndrome | Q24309592 | ||
Exome sequencing and analysis of induced pluripotent stem cells identify the cilia-related gene male germ cell-associated kinase (MAK) as a cause of retinitis pigmentosa | Q24320041 | ||
A photoreceptor cell-specific ATP-binding transporter gene (ABCR) is mutated in recessive Stargardt macular dystrophy | Q24324625 | ||
Complement factor H polymorphism in age-related macular degeneration | Q24553334 | ||
NMNAT1 mutations cause Leber congenital amaurosis | Q24594444 | ||
RNA-Seq: a revolutionary tool for transcriptomics | Q24596169 | ||
Targeted capture and massively parallel sequencing of 12 human exomes | Q24615381 | ||
Genetic variants near TIMP3 and high-density lipoprotein-associated loci influence susceptibility to age-related macular degeneration | Q24622351 | ||
Unraveling a multifactorial late-onset disease: from genetic susceptibility to disease mechanisms for age-related macular degeneration | Q36311846 | ||
Next-generation genetic testing for retinitis pigmentosa | Q36375321 | ||
Genetic mechanisms and age-related macular degeneration: common variants, rare variants, copy number variations, epigenetics, and mitochondrial genetics | Q36405448 | ||
Genetic studies of age-related macular degeneration: lessons, challenges, and opportunities for disease management | Q36445951 | ||
Targeted next-generation sequencing identifies a homozygous nonsense mutation in ABHD12, the gene underlying PHARC, in a family clinically diagnosed with Usher syndrome type 3 | Q36455759 | ||
Mutations in RPGR and RP2 account for 15% of males with simplex retinal degenerative disease | Q36467228 | ||
Photoreceptor sensory cilia and ciliopathies: focus on CEP290, RPGR and their interacting proteins | Q36585455 | ||
Pre-mRNA splicing and retinitis pigmentosa | Q36655877 | ||
Mutations in the X-linked retinitis pigmentosa genes RPGR and RP2 found in 8.5% of families with a provisional diagnosis of autosomal dominant retinitis pigmentosa | Q36683600 | ||
Genome-wide analysis of copy number variants in age-related macular degeneration | Q36732124 | ||
Potential involvement of more than one locus in trait manifestation for individuals with Leber congenital amaurosis | Q36762773 | ||
Analysis of 6,515 exomes reveals the recent origin of most human protein-coding variants | Q36913464 | ||
Targeted RNA sequencing reveals the deep complexity of the human transcriptome | Q37009455 | ||
Exome sequencing and the genetic basis of complex traits | Q37056084 | ||
Genome-wide approaches to studying chromatin modifications | Q37077306 | ||
Mutations in ARL2BP, encoding ADP-ribosylation-factor-like 2 binding protein, cause autosomal-recessive retinitis pigmentosa | Q37083413 | ||
Clinical features of the congenital vitreoretinopathies | Q37097868 | ||
eyeGENE®: a vision community resource facilitating patient care and paving the path for research through molecular diagnostic testing | Q37276434 | ||
Photoreceptor degeneration: genetic and mechanistic dissection of a complex trait | Q37704937 | ||
The molecular basis of human retinal and vitreoretinal diseases | Q37723484 | ||
The genomic, biochemical, and cellular responses of the retina in inherited photoreceptor degenerations and prospects for the treatment of these disorders | Q37767242 | ||
Transcriptional regulation of photoreceptor development and homeostasis in the mammalian retina | Q37774553 | ||
Retinal progenitor cells, differentiation, and barriers to cell cycle reentry | Q37801482 | ||
Genome structural variation discovery and genotyping | Q37848057 | ||
A systems-biology approach to understanding the ciliopathy disorders | Q37937749 | ||
RP1 and autosomal dominant rod-cone dystrophy: novel mutations, a review of published variants, and genotype-phenotype correlation | Q37952620 | ||
Detection of mammalian microRNA expression by in situ hybridization with RNA oligonucleotides | Q40273519 | ||
CNOT3 is a modifier of PRPF31 mutations in retinitis pigmentosa with incomplete penetrance. | Q41334187 | ||
The ADAMTS18 gene is responsible for autosomal recessive early onset severe retinal dystrophy | Q42265747 | ||
CRX ChIP-seq reveals the cis-regulatory architecture of mouse photoreceptors | Q42398472 | ||
Genetic screening of LCA in Belgium: predominance of CEP290 and identification of potential modifier alleles in AHI1 of CEP290-related phenotypes | Q42648973 | ||
ABCA4 and ROM1: implications for modification of the PRPH2-associated macular dystrophy phenotype | Q43119618 | ||
A functional variant in the CFI gene confers a high risk of age-related macular degeneration | Q47073487 | ||
MicroRNA (miRNA) transcriptome of mouse retina and identification of a sensory organ-specific miRNA cluster | Q48123763 | ||
Human copy number variation and complex genetic disease. | Q50309527 | ||
Using next-generation sequencing for the diagnosis of rare disorders: a family with retinitis pigmentosa and skeletal abnormalities. | Q50515711 | ||
Simultaneous mutation detection in 90 retinal disease genes in multiple patients using a custom-designed 300-kb retinal resequencing chip. | Q51555279 | ||
Exome sequencing identifies mutations in LZTFL1, a BBSome and smoothened trafficking regulator, in a family with Bardet--Biedl syndrome with situs inversus and insertional polydactyly. | Q51792855 | ||
Exome Sequencing: Capture and Sequencing of All Human Coding Regions for Disease Gene Discovery | Q64457400 | ||
Deletion of CFHR3 and CFHR1 genes in age-related macular degeneration | Q80209360 | ||
The fundamental plan of the retina | Q34088683 | ||
Further evidence for an association of ABCR alleles with age-related macular degeneration. The International ABCR Screening Consortium | Q34142148 | ||
The study of eQTL variations by RNA-seq: from SNPs to phenotypes | Q34152797 | ||
Whole-exome sequencing links a variant in DHDDS to retinitis pigmentosa | Q34162709 | ||
Modifier genes in mice and humans | Q34188131 | ||
Cell-specific DNA methylation patterns of retina-specific genes | Q34189565 | ||
Identification of ADAMTS18 as a gene mutated in Knobloch syndrome | Q34210232 | ||
Transcriptional regulation of rod photoreceptor homeostasis revealed by in vivo NRL targetome analysis | Q34236670 | ||
Common variants at 9p21 and 8q22 are associated with increased susceptibility to optic nerve degeneration in glaucoma | Q34263078 | ||
Common genetic determinants of intraocular pressure and primary open-angle glaucoma | Q34263126 | ||
Autozygome-guided exome sequencing in retinal dystrophy patients reveals pathogenetic mutations and novel candidate disease genes | Q34308697 | ||
Whole-exome sequencing identifies LRIT3 mutations as a cause of autosomal-recessive complete congenital stationary night blindness | Q34318093 | ||
Digenic retinitis pigmentosa due to mutations at the unlinked peripherin/RDS and ROM1 loci | Q34342489 | ||
Mapping determinants of human gene expression by regional and genome-wide association | Q34421244 | ||
Splicing in disease: disruption of the splicing code and the decoding machinery | Q34582131 | ||
Genetic modifiers of vision and hearing | Q34641632 | ||
Identification of disease-causing mutations in autosomal dominant retinitis pigmentosa (adRP) using next-generation DNA sequencing | Q34646786 | ||
DICER1 deficit induces Alu RNA toxicity in age-related macular degeneration | Q34796058 | ||
Genome-wide meta-analysis for severe diabetic retinopathy | Q34994806 | ||
Applications of new sequencing technologies for transcriptome analysis. | Q35000125 | ||
Copy number variations in candidate genes in neovascular age-related macular degeneration | Q35027522 | ||
Recessive mutations in KCNJ13, encoding an inwardly rectifying potassium channel subunit, cause leber congenital amaurosis | Q35103796 | ||
Exome sequencing and cis-regulatory mapping identify mutations in MAK, a gene encoding a regulator of ciliary length, as a cause of retinitis pigmentosa. | Q35161651 | ||
Rare and common variants: twenty arguments | Q35533255 | ||
Progress toward understanding the genetic and biochemical mechanisms of inherited photoreceptor degenerations | Q35550545 | ||
Common variants near CAV1 and CAV2 are associated with primary open-angle glaucoma | Q35569618 | ||
A rare penetrant mutation in CFH confers high risk of age-related macular degeneration. | Q35577472 | ||
MicroRNA-204/211 alters epithelial physiology | Q35595622 | ||
High-throughput retina-array for screening 93 genes involved in inherited retinal dystrophy | Q35595744 | ||
Biallelic mutations in PLA2G5, encoding group V phospholipase A2, cause benign fleck retina | Q35603281 | ||
Dicer inactivation leads to progressive functional and structural degeneration of the mouse retina | Q35886487 | ||
Deep intronic mutation in OFD1, identified by targeted genomic next-generation sequencing, causes a severe form of X-linked retinitis pigmentosa (RP23) | Q36122430 | ||
What's in a name? RPGR mutations redefine the genetic and phenotypic landscape in retinal degenerative diseases | Q36159540 | ||
P433 | issue | 10 | |
P304 | page(s) | 84 | |
P577 | publication date | 2013-10-11 | |
P1433 | published in | Genome Medicine | Q15816848 |
P1476 | title | Genetic architecture of retinal and macular degenerative diseases: the promise and challenges of next-generation sequencing | |
P478 | volume | 5 |
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