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Protocols

RetNet specifications

Information


Unique identifier OMICS_05804
Name RetNet
Alternative name Retinal Information Network
Restrictions to use None
Maintained Yes

Taxon


  • Primates
    • Homo sapiens

Maintainer


  • person_outline Stephen P. Daiger

RetNet citations

 (24)
call_split

Next generation sequencing reveals a novel NDP gene mutation in a Chinese family with Norrie disease

2017
PMCID: 5700585
PMID: 29133643
DOI: 10.4103/ijo.IJO_442_17
call_split See protocol

[…] ction were performed combining total depth, quality score, MAF, potential deleterious effect, and the existence of mutation reports in common databases such as the Human Gene Mutation Database,[] the Retinal Information Network,[] ClinVar,[] or Online Mendelian Inheritance in Man[] to evaluate variant calling confidence. […]

library_books

Applying next generation sequencing with microdroplet PCR to determine the disease causing mutations in retinal dystrophies

2017
PMCID: 5571584
PMID: 28838317
DOI: 10.1186/s12886-017-0549-5

[…] 3071 primer pairs were designed to target the 2078 coding exons of the184 RD genes (Additional file : Table S2). RD genes included in this study were previously associated with RD in the literature, RetNet database (http://www.sph.uth.tmc.edu/retnet/sum-dis.htm) and the OMIM database [11] (http://www.ncbi.nlm.nih.gov/omim). […]

call_split

Homozygosity Mapping and Genetic Analysis of Autosomal Recessive Retinal Dystrophies in 144 Consanguineous Pakistani Families

2017
PMCID: 5397137
PMID: 28418496
DOI: 10.1167/iovs.17-21424
call_split See protocol

[…] One hundred eighty genes or loci associated with inherited retinal diseases were selected from RetNet (https://sph.uth.edu/Retnet/) and screened by homozygosity exclusion mapping (). Homozygosity genotyping of 188 microsatellite markers was done in one affected individual of each family. Loci h […]

library_books

Early Onset Progressive Retinal Atrophy Associated with an IQCB1 Variant in African Black Footed Cats (Felis nigripes)

2017
Sci Rep
PMCID: 5359545
PMID: 28322220
DOI: 10.1038/srep43918

[…] nt segregation with the autosomal recessive disease phenotype within the black-footed cat trio, and, (5) identifying variants in known retinal genes. A list of genes causing retinal diseases from the RetNet database (www.RetNet.org) was obtained and variants were visually investigated within those genes. Variants were prioritized by their effect on the protein using SNPeff (http://snpeff.sourcefor […]

call_split

Gene Augmentation Therapy for a Missense Substitution in the cGMP Binding Domain of Ovine CNGA3 Gene Restores Vision in Day Blind Sheep

2017
PMCID: 5361581
PMID: 28282490
DOI: 10.1167/iovs.16-20986
call_split See protocol

[…] st Alignment Search Tool suite (mrsFAST-ultra-3.2.0; http://sourceforge.net/projects/mrsfast/; in the public domain). These conserved sequences were obtained by aligning 242 human genes listed in the Retinal Information Network (https://sph.uth.edu/Retnet/disease.htm; in the public domain) (RetNet) to the sheep genome (v3.1) using the UCSC genome browser and the Galaxy Web-based platform (https:// […]

library_books

The Genetic Causes of Nonsyndromic Congenital Retinal Detachment: A Genetic and Phenotypic Study of Pakistani Families

2017
PMCID: 5308768
PMID: 28192794
DOI: 10.1167/iovs.16-20281

[…] l differentiation and proliferation, as well as neuroectodermal cell-cell interaction (NDP, OMIM#300658). Mutations in NDP are known to cause X-linked exudative vitreoretinopathy.With the help of the RetNet panel and WES, we found NDP mutations in two families (NCRNA11 and NCRNA14). A novel homozygous 244-bp deletion in NDP, which starts from the end of the third exon, deleting 67-bp from exon thr […]

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