Panel-based NGS Reveals Novel Pathogenic Mutations in Autosomal Recessive Retinitis Pigmentosa
about
arrEYE: a customized platform for high-resolution copy number analysis of coding and noncoding regions of known and candidate retinal dystrophy genes and retinal noncoding RNAs.Retinal Diseases Caused by Mutations in Genes Not Specifically Associated with the Clinical DiagnosisNovel Candidate Genes and a Wide Spectrum of Structural and Point Mutations Responsible for Inherited Retinal Dystrophies Revealed by Exome SequencingIdentification of the Photoreceptor Transcriptional Co-Repressor SAMD11 as Novel Cause of Autosomal Recessive Retinitis PigmentosaWhole exome sequencing as a diagnostic tool for patients with ciliopathy-like phenotypesNGS Technologies as a Turning Point in Rare Disease Research , Diagnosis and Treatment.EYS Mutations Causing Autosomal Recessive Retinitis Pigmentosa: Changes of Retinal Structure and Function with Disease Progression.Whole exome sequencing using Ion Proton system enables reliable genetic diagnosis of inherited retinal dystrophies.EYS mutation update: In silico assessment of 271 reported and 26 novel variants in patients with retinitis pigmentosa.Assessment of the incorporation of CNV surveillance into gene panel next-generation sequencing testing for inherited retinal diseases.Identification of a Novel Mutation in the ABCA4 Gene in a Chinese Family with Retinitis Pigmentosa Using Exome Sequencing.Toward an elucidation of the molecular genetics of inherited retinal degenerations.Combining targeted panel-based resequencing and copy-number variation analysis for the diagnosis of inherited syndromic retinopathies and associated ciliopathies.Unravelling the pathogenic role and genotype-phenotype correlation of the USH2A p.(Cys759Phe) variant among Spanish families.A new approach based on targeted pooled DNA sequencing identifies novel mutations in patients with Inherited Retinal DystrophiesTargeted next-generation sequencing-based molecular diagnosis of congenital hand malformations in Chinese populationSearching the second hit in patients with inherited retinal dystrophies and monoallelic variants in ABCA4, USH2A and CEP290 by whole-gene targeted sequencing
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P2860
Panel-based NGS Reveals Novel Pathogenic Mutations in Autosomal Recessive Retinitis Pigmentosa
description
2016 nî lūn-bûn
@nan
2016年の論文
@ja
2016年論文
@yue
2016年論文
@zh-hant
2016年論文
@zh-hk
2016年論文
@zh-mo
2016年論文
@zh-tw
2016年论文
@wuu
2016年论文
@zh
2016年论文
@zh-cn
name
Panel-based NGS Reveals Novel ...... Recessive Retinitis Pigmentosa
@ast
Panel-based NGS Reveals Novel ...... Recessive Retinitis Pigmentosa
@en
type
label
Panel-based NGS Reveals Novel ...... Recessive Retinitis Pigmentosa
@ast
Panel-based NGS Reveals Novel ...... Recessive Retinitis Pigmentosa
@en
prefLabel
Panel-based NGS Reveals Novel ...... Recessive Retinitis Pigmentosa
@ast
Panel-based NGS Reveals Novel ...... Recessive Retinitis Pigmentosa
@en
P2093
P2860
P50
P356
P1433
P1476
Panel-based NGS Reveals Novel ...... Recessive Retinitis Pigmentosa
@en
P2093
Almudena Avila-Fernandez
Elena Aller
Fiona Blanco-Kelly
Iker Sánchez-Navarro
Jose M Millan
Ma Isabel López-Molina
Miguel Angel Lopez-Martinez
Noelia Sanchez-Bolivar
Olga Zurita
Patricia Fernandez-San Jose
P2860
P2888
P356
10.1038/SREP19531
P407
P577
2016-01-25T00:00:00Z
P5875
P6179
1005364858