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。Genome-wide identification of splicing QTLs in the human brain and their enrichment among schizophrenia-associated loci
Atsushi Takata et al.
NATURE COMMUNICATIONS (2017)
Abundant contribution of short tandem repeats to gene expression variation in humans
Melissa Gymrek et al.
NATURE GENETICS (2016)
HaploReg v4: systematic mining of putative causal variants, cell types, regulators and target genes for human complex traits and disease
Lucas D. Ward et al.
NUCLEIC ACIDS RESEARCH (2016)
Unilateral BEST1-Associated Retinopathy
Rashi Arora et al.
AMERICAN JOURNAL OF OPHTHALMOLOGY (2016)
An atlas of gene expression and gene co-regulation in the human retina
Michele Pinelli et al.
NUCLEIC ACIDS RESEARCH (2016)
Transcriptional regulation of PRPF31 gene expression by MSR1 repeat elements causes incomplete penetrance in retinitis pigmentosa
Anna M. Rose et al.
SCIENTIFIC REPORTS (2016)
Improving the management of Inherited Retinal Dystrophies by targeted sequencing of a population-specific gene panel
Nereida Bravo-Gil et al.
SCIENTIFIC REPORTS (2016)
Autosomal Dominant Retinal Dystrophies Caused by a Founder Splice Site Mutation, c.828+3A>T, in PRPH2 and Protein Haplotypes in trans as Modifiers
Suma P. Shankar et al.
INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE (2016)
Analyzing allele specific RNA expression using mixture models
Rong Lu et al.
BMC GENOMICS (2015)
The role of regulatory variation in complex traits and disease
Frank W. Albert et al.
NATURE REVIEWS GENETICS (2015)
Expression quantitative trait locus analysis for translational medicine
Greg Gibson et al.
GENOME MEDICINE (2015)
Tyro3 Modulates Mertk-Associated Retinal Degeneration
Douglas Vollrath et al.
PLOS GENETICS (2015)
Tools and best practices for data processing in allelic expression analysis
Stephane E. Castel et al.
GENOME BIOLOGY (2015)
Retinal dystrophies, genomic applications in diagnosis and prospects for therapy
Benjamin M. Nash et al.
TRANSLATIONAL PEDIATRICS (2015)
Novel pathogenic COL11A1/COL11A2 variants in Stickler syndrome detected by targeted NGS and exome sequencing
Frederic R. Acke et al.
MOLECULAR GENETICS AND METABOLISM (2014)
Modifier Genes as Therapeutics: The Nuclear Hormone Receptor Rev Erb Alpha (Nr1d1) Rescues Nr2e3 Associated Retinal Disease
Nelly M. Cruz et al.
PLOS ONE (2014)
Whole transcriptome RNA-Seq allelic expression in human brain
Ryan M. Smith et al.
BMC GENOMICS (2013)
X-Inactivation, Imprinting, and Long Noncoding RNAs in Health and Disease
Jeannie T. Lee et al.
CELL (2013)
Systematic evaluation of spliced alignment programs for RNA-seq data
Par G. Engstrom et al.
NATURE METHODS (2013)
Primer-BLAST: A tool to design target-specific primers for polymerase chain reaction
Jian Ye et al.
BMC BIOINFORMATICS (2012)
RP1 and Autosomal Dominant Rod-Cone Dystrophy: Novel Mutations, a Review of Published Variants, and Genotype-Phenotype Correlation
Isabelle Audo et al.
HUMAN MUTATION (2012)
CNOT3 Is a Modifier of PRPF31 Mutations in Retinitis Pigmentosa with Incomplete Penetrance
Giulia Venturini et al.
PLOS GENETICS (2012)
Extended extraocular phenotype of PROM1 mutation in kindreds with known autosomal dominant macular dystrophy
Francesca I. Arrigoni et al.
EUROPEAN JOURNAL OF HUMAN GENETICS (2011)
Best's macular dystrophy in Australia: phenotypic profile and identification of novel BEST1 mutations
A. C. Cohn et al.
EYE (2011)
AHI1 is required for photoreceptor outer segment development and is a modifier for retinal degeneration in nephronophthisis
Carrie M. Louie et al.
NATURE GENETICS (2010)
Allelic imbalance in gene expression as a guide to cis-acting regulatory single nucleotide polymorphisms in cancer cells
Lili Milani et al.
NUCLEIC ACIDS RESEARCH (2007)
Variation in retinitis pigmentosa-11 (PRPF31 or RP11) gene expression between symptomatic and asymptomatic patients with dominant RP11 mutations
Carlo Rivolta et al.
HUMAN MUTATION (2006)
Cone-rod dystrophy, intrafamilial variability, and incomplete penetrance associated with the R172W mutation in the peripherin/RDS gene
M Michaelides et al.
OPHTHALMOLOGY (2005)
分享论文
