标题
Molecular findings from 537 individuals with inherited retinal disease
作者
关键词
-
出版物
JOURNAL OF MEDICAL GENETICS
Volume 53, Issue 11, Pages 761-767
出版商
BMJ
发表日期
2016-05-12
DOI
10.1136/jmedgenet-2016-103837
参考文献
相关参考文献
注意:仅列出部分参考文献,下载原文获取全部文献信息。- Whole Genome Sequencing Increases Molecular Diagnostic Yield Compared with Current Diagnostic Testing for Inherited Retinal Disease
- (2016) Jamie M. Ellingford et al. OPHTHALMOLOGY
- North Carolina Macular Dystrophy Is Caused by Dysregulation of the Retinal Transcription Factor PRDM13
- (2016) Kent W. Small et al. OPHTHALMOLOGY
- High Diagnostic Yield of Whole Exome Sequencing in Participants With Retinal Dystrophies in a Clinical Ophthalmology Setting
- (2015) Kristy Lee et al. AMERICAN JOURNAL OF OPHTHALMOLOGY
- Homozygosity mapping and whole-genome sequencing reveals a deep intronic PROM1 mutation causing cone–rod dystrophy by pseudoexon activation
- (2015) Anja K Mayer et al. EUROPEAN JOURNAL OF HUMAN GENETICS
- Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology
- (2015) Sue Richards et al. GENETICS IN MEDICINE
- Pinpointing clinical diagnosis through whole exome sequencing to direct patient care: a case of Senior-Loken syndrome
- (2015) Jamie M Ellingford et al. LANCET
- Discovery of four recessive developmental disorders using probabilistic genotype and phenotype matching among 4,125 families
- (2015) Nadia Akawi et al. NATURE GENETICS
- Next-generation diagnostics and disease-gene discovery with the Exomiser
- (2015) Damian Smedley et al. Nature Protocols
- Comprehensive gene panels provide advantages over clinical exome sequencing for Mendelian diseases
- (2015) GENOME BIOLOGY
- Next-generation sequencing-based molecular diagnosis of 82 retinitis pigmentosa probands from Northern Ireland
- (2014) Li Zhao et al. HUMAN GENETICS
- Molecular Findings Among Patients Referred for Clinical Whole-Exome Sequencing
- (2014) Yaping Yang et al. JAMA-JOURNAL OF THE AMERICAN MEDICAL ASSOCIATION
- Clinical Exome Sequencing for Genetic Identification of Rare Mendelian Disorders
- (2014) Hane Lee et al. JAMA-JOURNAL OF THE AMERICAN MEDICAL ASSOCIATION
- Personalized Diagnosis and Management of Congenital Cataract by Next-Generation Sequencing
- (2014) Rachel L. Gillespie et al. OPHTHALMOLOGY
- Combined Genetic and High-Throughput Strategies for Molecular Diagnosis of Inherited Retinal Dystrophies
- (2014) Marta de Castro-Miró et al. PLoS One
- Screening for single nucleotide variants, small indels and exon deletions with a next-generation sequencing based gene panel approach for Usher syndrome
- (2014) Peter M. Krawitz et al. Molecular Genetics & Genomic Medicine
- The Human Gene Mutation Database: building a comprehensive mutation repository for clinical and molecular genetics, diagnostic testing and personalized genomic medicine
- (2013) Peter D. Stenson et al. HUMAN GENETICS
- 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
- (2013) Tobias Eisenberger et al. PLoS One
- A robust model for read count data in exome sequencing experiments and implications for copy number variant calling
- (2012) Vincent Plagnol et al. BIOINFORMATICS
- A paradigm shift in the delivery of services for diagnosis of inherited retinal disease
- (2012) James O'Sullivan et al. JOURNAL OF MEDICAL GENETICS
- A framework for variation discovery and genotyping using next-generation DNA sequencing data
- (2011) Mark A DePristo et al. NATURE GENETICS
- The Genome Analysis Toolkit: A MapReduce framework for analyzing next-generation DNA sequencing data
- (2010) A. McKenna et al. GENOME RESEARCH
- Lighting a candle in the dark: advances in genetics and gene therapy of recessive retinal dystrophies
- (2010) Anneke I. den Hollander et al. JOURNAL OF CLINICAL INVESTIGATION
- A method and server for predicting damaging missense mutations
- (2010) Ivan A Adzhubei et al. NATURE METHODS
- Photoreceptor degeneration: genetic and mechanistic dissection of a complex trait
- (2010) Alan F. Wright et al. NATURE REVIEWS GENETICS
- The molecular basis of human retinal and vitreoretinal diseases
- (2010) Wolfgang Berger et al. PROGRESS IN RETINAL AND EYE RESEARCH
- Pindel: a pattern growth approach to detect break points of large deletions and medium sized insertions from paired-end short reads
- (2009) K. Ye et al. BIOINFORMATICS
- Fast and accurate short read alignment with Burrows-Wheeler transform
- (2009) H. Li et al. BIOINFORMATICS
- RPGR ORF15 genotype and clinical variability of retinal degeneration in an Australian population
- (2009) J B Ruddle et al. BRITISH JOURNAL OF OPHTHALMOLOGY
- Predicting the effects of coding non-synonymous variants on protein function using the SIFT algorithm
- (2009) Prateek Kumar et al. Nature Protocols
- Sequencing technologies — the next generation
- (2009) Michael L. Metzker NATURE REVIEWS GENETICS
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