| P50 | author | Stephen P. Daiger | Q66360576 |
| P2093 | author name string | Lori S Sullivan | |
| | Sara J Bowne | |
| | Michael B Gorin | |
| | Sachin Parikh | |
| | Samuel P Strom | |
| | Sarah Garcia | |
| | Michael J Clark | |
| | Anna Matynia | |
| | Ariadna Martinez | |
| | Amira A Abelazeem | |
| P2860 | cites work | BioGPS: an extensible and customizable portal for querying and organizing gene annotation resources | Q21183895 |
| | Achieving high-sensitivity for clinical applications using augmented exome sequencing | Q22000581 |
| | An ARL3-UNC119-RP2 GTPase cycle targets myristoylated NPHP3 to the primary cilium | Q24297497 |
| | RP1L1 variants are associated with a spectrum of inherited retinal diseases including retinitis pigmentosa and occult macular dystrophy | Q24307529 |
| | The retinitis pigmentosa 2 gene product is a GTPase-activating protein for Arf-like 3 | Q24315798 |
| | Positional cloning of the gene for X-linked retinitis pigmentosa 2 | Q24322014 |
| | The interplay between RPGR, PDEδ and Arl2/3 regulate the ciliary targeting of farnesylated cargo | Q24337852 |
| | Protein-truncation mutations in the RP2 gene in a North American cohort of families with X-linked retinitis pigmentosa | Q24540158 |
| | Clinical application of exome sequencing in undiagnosed genetic conditions | Q24604127 |
| | Epidemiology of retinitis pigmentosa in Denmark. | Q50570806 |
| | HRG4 (UNC119) mutation found in cone-rod dystrophy causes retinal degeneration in a transgenic model | Q73006412 |
| | Whole-exome sequencing emerges as clinical diagnostic tool: testing method proves useful for diagnosing wide range of genetic disorders | Q86976595 |
| | Spectrum and frequency of mutations in IMPDH1 associated with autosomal dominant retinitis pigmentosa and leber congenital amaurosis | Q24642869 |
| | Structural and biochemical properties show ARL3-GDP as a distinct GTP binding protein | Q27629740 |
| | Crystal structure of the human retinitis pigmentosa 2 protein and its interaction with Arl3. | Q27919690 |
| | Arl3 and RP2 mediated assembly and traffic of membrane associated cilia proteins. | Q28000107 |
| | Mutations and polymorphisms in the human peripherin-RDS gene and their involvement in inherited retinal degeneration | Q28299191 |
| | Prevalence of mutations causing retinitis pigmentosa and other inherited retinopathies | Q28345457 |
| | Mutations and polymorphisms in the human peripherin-RDS gene and their involvement in inherited retinal degeneration | Q29028757 |
| | SIFT: Predicting amino acid changes that affect protein function | Q29547211 |
| | MutationTaster evaluates disease-causing potential of sequence alterations | Q29615749 |
| | Prevalence of disease-causing mutations in families with autosomal dominant retinitis pigmentosa: a screen of known genes in 200 families | Q30440790 |
| | New population-based exome data are questioning the pathogenicity of previously cardiomyopathy-associated genetic variants | Q30585171 |
| | Digenic retinitis pigmentosa due to mutations at the unlinked peripherin/RDS and ROM1 loci | Q34342489 |
| | Genes and mutations causing retinitis pigmentosa | Q34346276 |
| | Molecular diagnosis of putative Stargardt Disease probands by exome sequencing | Q34366050 |
| | Clinical whole-exome sequencing for the diagnosis of mendelian disorders | Q34413680 |
| | A dominant mutation in hexokinase 1 (HK1) causes retinitis pigmentosa | Q34436927 |
| | Exome sequencing of index patients with retinal dystrophies as a tool for molecular diagnosis | Q34934291 |
| | Increasing the yield in targeted next-generation sequencing by implicating CNV analysis, non-coding exons and the overall variant load: the example of retinal dystrophies | Q35050303 |
| | Mistrafficking of prenylated proteins causes retinitis pigmentosa 2. | Q35576525 |
| | Development and application of a next-generation-sequencing (NGS) approach to detect known and novel gene defects underlying retinal diseases | Q35959606 |
| | Next-generation genetic testing for retinitis pigmentosa | Q36375321 |
| | Evaluation of autosomal dominant retinal dystrophy genes in an unaffected cohort suggests rare or private missense variants may often be benign | Q36846616 |
| | Prevalence of mutations in eyeGENE probands with a diagnosis of autosomal dominant retinitis pigmentosa | Q37187272 |
| | Mutations in the small nuclear riboprotein 200 kDa gene (SNRNP200) cause 1.6% of autosomal dominant retinitis pigmentosa | Q37363961 |
| | Whole exome sequencing detects homozygosity for ABCA4 p.Arg602Trp missense mutation in a pediatric patient with rapidly progressive retinal dystrophy. | Q37525938 |
| | A homozygous PDE6D mutation in Joubert syndrome impairs targeting of farnesylated INPP5E protein to the primary cilium | Q37624332 |
| | Clinical exome sequencing in daily practice: 1,000 patients and beyond | Q37689764 |
| | mCSM: predicting the effects of mutations in proteins using graph-based signatures. | Q41877619 |
| | Next-generation sequencing (NGS) as a diagnostic tool for retinal degeneration reveals a much higher detection rate in early-onset disease | Q42961888 |
| | KMeyeDB: a graphical database of mutations in genes that cause eye diseases | Q44763748 |
| | Targeted next-generation sequencing can replace Sanger sequencing in clinical diagnostics | Q45736566 |
| P275 | copyright license | Creative Commons Attribution 4.0 International | Q20007257 |
| P6216 | copyright status | copyrighted | Q50423863 |
| P433 | issue | 3 | |
| P407 | language of work or name | English | Q1860 |
| P921 | main subject | retinitis pigmentosa | Q847057 |
| P304 | page(s) | e0150944 | |
| P577 | publication date | 2016-03-10 | |
| P1433 | published in | PLOS One | Q564954 |
| P1476 | title | De Novo Occurrence of a Variant in ARL3 and Apparent Autosomal Dominant Transmission of Retinitis Pigmentosa | |
| P478 | volume | 11 | |