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。Assessment of the incorporation of CNV surveillance into gene panel next-generation sequencing testing for inherited retinal diseases
Jamie M. Ellingford et al.
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Comprehensive genotyping reveals RPE65 as the most frequently mutated gene in Leber congenital amaurosis in Denmark
Galuh D. N. Astuti et al.
EUROPEAN JOURNAL OF HUMAN GENETICS (2016)
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Isabella Bernardis et al.
BIOMED RESEARCH INTERNATIONAL (2016)
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Shzeena Dad et al.
MOLECULAR GENETICS & GENOMIC MEDICINE (2016)
Clinical Characteristics, Mutation Spectrum, and Prevalence of Aland Eye Disease/Incomplete Congenital Stationary Night Blindness in Denmark
Marianne N. Hove et al.
INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE (2016)
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OPHTHALMOLOGICA (2015)
Prevalence of Generalized Retinal Dystrophy in Denmark
Mette Bertelsen et al.
OPHTHALMIC EPIDEMIOLOGY (2014)
Generalized Choriocapillaris Dystrophy, a Distinct Phenotype in the Spectrum of ABCA4-Associated Retinopathies
Mette Bertelsen et al.
INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE (2014)
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
Tobias Eisenberger et al.
PLOS ONE (2013)
Frequency, Genotype, and Clinical Spectrum of Best Vitelliform Macular Dystrophy: Data From a National Center in Denmark
Hanna Bitner et al.
AMERICAN JOURNAL OF OPHTHALMOLOGY (2012)
A robust model for read count data in exome sequencing experiments and implications for copy number variant calling
Vincent Plagnol et al.
BIOINFORMATICS (2012)
Deriving the consequences of genomic variants with the Ensembl API and SNP Effect Predictor
William McLaren et al.
BIOINFORMATICS (2010)
The Genome Analysis Toolkit: A MapReduce framework for analyzing next-generation DNA sequencing data
Aaron McKenna et al.
GENOME RESEARCH (2010)
Bardet-Biedl Syndrome in Denmark-Report of 13 Novel Sequence Variations in Six Genes
Tina Duelund Hjortshoj et al.
HUMAN MUTATION (2010)
The Sequence Alignment/Map format and SAMtools
Heng Li et al.
BIOINFORMATICS (2009)
Fast and accurate short read alignment with Burrows-Wheeler transform
Heng Li et al.
BIOINFORMATICS (2009)
Predicting the effects of coding non-synonymous variants on protein function using the SIFT algorithm
Prateek Kumar et al.
NATURE PROTOCOLS (2009)
ACMG recommendations for standards for interpretation and reporting of sequence variations: Revisions 2007
C. Sue Richards et al.
GENETICS IN MEDICINE (2008)
p.Gln200Glu, a Putative Constitutively Active Mutant of Rod α-Transducin (GNAT1) in Autosomal Dominant Congenital Stationary Night Blindness
Viktoria Szabo et al.
HUMAN MUTATION (2007)
CNGB3 mutations account for 50% of all cases with autosomal recessive achromatopsia
S Kohl et al.
EUROPEAN JOURNAL OF HUMAN GENETICS (2005)
Severe visual impairment and blindness in children in the UK
JS Rahi et al.
LANCET (2003)
GeneSplicer: a new computational method for splice site prediction
M Pertea et al.
NUCLEIC ACIDS RESEARCH (2001)