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。Mutations in RAB28, Encoding a Farnesylated Small GTPase, Are Associated with Autosomal-Recessive Cone-Rod Dystrophy
Susanne Roosing et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2013)
Whole-Exome Sequencing Identifies LRIT3 Mutations as a Cause of Autosomal-Recessive Complete Congenital Stationary Night Blindness
Christina Zeitz et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2013)
eyeGENE®: a vision community resource facilitating patient care and paving the path for research through molecular diagnostic testing
D. Blain et al.
CLINICAL GENETICS (2013)
Autozygome-guided exome sequencing in retinal dystrophy patients reveals pathogenetic mutations and novel candidate disease genes
Leen Abu-Safieh et al.
GENOME RESEARCH (2013)
Analysis of 6,515 exomes reveals the recent origin of most human protein-coding variants
Wenqing Fu et al.
NATURE (2013)
A functional variant in the CFI gene confers a high risk of age-related macular degeneration
Johannes P. H. van de Ven et al.
NATURE GENETICS (2013)
Seven new loci associated with age-related macular degeneration
Lars G. Fritsche et al.
NATURE GENETICS (2013)
The ADAMTS18 gene is responsible for autosomal recessive early onset severe retinal dystrophy
Ivana Peluso et al.
ORPHANET JOURNAL OF RARE DISEASES (2013)
The resolution of inflammation
Christopher D. Buckley et al.
NATURE REVIEWS IMMUNOLOGY (2013)
Mutations in the X-Linked Retinitis Pigmentosa Genes RPGR and RP2 Found in 8.5% of Families with a Provisional Diagnosis of Autosomal Dominant Retinitis Pigmentosa
Jennifer D. Churchill et al.
INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE (2013)
Mutations in C8orf37, Encoding a Ciliary Protein, are Associated with Autosomal-Recessive Retinal Dystrophies with Early Macular Involvement
Alejandro Estrada-Cuzcano et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2012)
GPR179 Is Required for Depolarizing Bipolar Cell Function and Is Mutated in Autosomal-Recessive Complete Congenital Stationary Night Blindness
Neal S. Peachey et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2012)
Whole-Exome Sequencing Identifies Mutations in GPR179 Leading to Autosomal-Recessive Complete Congenital Stationary Night Blindness
Isabelle Audo et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2012)
Exome Capture Reveals ZNF423 and CEP164 Mutations, Linking Renal Ciliopathies to DNA Damage Response Signaling
Moumita Chaki et al.
CELL (2012)
Deep intronic mutation in OFD1, identified by targeted genomic next-generation sequencing, causes a severe form of X-linked retinitis pigmentosa (RP23)
Tom R. Webb et al.
HUMAN MOLECULAR GENETICS (2012)
Exome sequencing and complex disease: practical aspects of rare variant association studies
Ron Do et al.
HUMAN MOLECULAR GENETICS (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)
Next-Generation Genetic Testing for Retinitis Pigmentosa
Kornelia Neveling et al.
HUMAN MUTATION (2012)
Combining Cep290 and Mkks ciliopathy alleles in mice rescues sensory defects and restores ciliogenesis
Rivka A. Rachel et al.
JOURNAL OF CLINICAL INVESTIGATION (2012)
Exome sequencing identifies mutations in LZTFL1, a BBSome and smoothened trafficking regulator, in a family with Bardet-Biedl syndrome with situs inversus and insertional polydactyly
Vincent Marion et al.
JOURNAL OF MEDICAL GENETICS (2012)
An integrated encyclopedia of DNA elements in the human genome
Ian Dunham et al.
NATURE (2012)
An integrated map of genetic variation from 1,092 human genomes
David M. Altshuler et al.
NATURE (2012)
Targeted RNA sequencing reveals the deep complexity of the human transcriptome
Tim R. Mercer et al.
NATURE BIOTECHNOLOGY (2012)
Mutations in NMNAT1 cause Leber congenital amaurosis with early-onset severe macular and optic atrophy
Isabelle Perrault et al.
NATURE GENETICS (2012)
NMNAT1 mutations cause Leber congenital amaurosis
Marni J. Falk et al.
NATURE GENETICS (2012)
Exome sequencing identifies NMNAT1 mutations as a cause of Leber congenital amaurosis
Pei-Wen Chiang et al.
NATURE GENETICS (2012)
Mutations in NMNAT1 cause Leber congenital amaurosis and identify a new disease pathway for retinal degeneration
Robert K. Koenekoop et al.
NATURE GENETICS (2012)
Exome sequencing and the genetic basis of complex traits
Adam Kiezun et al.
NATURE GENETICS (2012)
Rare and common variants: twenty arguments
Greg Gibson
NATURE REVIEWS GENETICS (2012)
Genetic Studies of Age-related Macular Degeneration Lessons, Challenges, and Opportunities for Disease Management
Rinki Ratna Priya et al.
OPHTHALMOLOGY (2012)
Targeted next-generation sequencing identifies a homozygous nonsense mutation in ABHD12, the gene underlying PHARC, in a family clinically diagnosed with Usher syndrome type 3
Tobias Eisenberger et al.
ORPHANET JOURNAL OF RARE DISEASES (2012)
Cell-Specific DNA Methylation Patterns of Retina-Specific Genes
Shannath L. Merbs et al.
PLOS ONE (2012)
Genetic Mapping and Exome Sequencing Identify Variants Associated with Five Novel Diseases
Erik G. Puffenberger et al.
PLOS ONE (2012)
Transcriptional Regulation of Rod Photoreceptor Homeostasis Revealed by In Vivo NRL Targetome Analysis
Hong Hao et al.
PLOS GENETICS (2012)
Common Genetic Determinants of Intraocular Pressure and Primary Open-Angle Glaucoma
Leonieke M. E. van Koolwijk et al.
PLOS GENETICS (2012)
Common Variants at 9p21 and 8q22 Are Associated with Increased Susceptibility to Optic Nerve Degeneration in Glaucoma
Janey L. Wiggs et al.
PLOS GENETICS (2012)
CNOT3 Is a Modifier of PRPF31 Mutations in Retinitis Pigmentosa with Incomplete Penetrance
Giulia Venturini et al.
PLOS GENETICS (2012)
Mutations in RPGR and RP2 Account for 15% of Males with Simplex Retinal Degenerative Disease
Kari Branham et al.
INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE (2012)
Genetic mechanisms and age-related macular degeneration: common variants, rare variants, copy number variations, epigenetics, and mitochondrial genetics
Melissa M. Liu et al.
HUMAN GENOMICS (2012)
DNA Methylation Is Associated with Altered Gene Expression in AMD
Allan Hunter et al.
INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE (2012)
Biallelic Mutations in PLA2G5, Encoding Group V Phospholipase A2, Cause Benign Fleck Retina
Panagiotis I. Sergouniotis et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2011)
Recessive Mutations in KCNJ13, Encoding an Inwardly Rectifying Potassium Channel Subunit, Cause Leber Congenital Amaurosis
Panagiotis I. Sergouniotis et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2011)
TMEM237 Is Mutated in Individuals with a Joubert Syndrome Related Disorder and Expands the Role of the TMEM Family at the Ciliary Transition Zone
Lijia Huang et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2011)
Exome Sequencing and cis-Regulatory Mapping Identify Mutations in MAK, a Gene Encoding a Regulator of Ciliary Length, as a Cause of Retinitis Pigmentosa
Riza Koksal Ozgul et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2011)
Whole-Exome Sequencing Links a Variant in DHDDS to Retinitis Pigmentosa
Stephan Zuechner et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2011)
Ciliopathies with Skeletal Anomalies and Renal Insufficiency due to Mutations in the IFT-A Gene WDR19
Cecilie Bredrup et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2011)
Human Copy Number Variation and Complex Genetic Disease
Santhosh Girirajan et al.
ANNUAL REVIEW OF GENETICS, VOL 45 (2011)
Genome-wide analysis of copy number variants in age-related macular degeneration
Kacie J. Meyer et al.
HUMAN GENETICS (2011)
Potential involvement of more than one locus in trait manifestation for individuals with Leber congenital amaurosis
Wojciech Wiszniewski et al.
HUMAN GENETICS (2011)
Genome-wide meta-analysis for severe diabetic retinopathy
Michael A. Grassi et al.
HUMAN MOLECULAR GENETICS (2011)
Identification of ADAMTS18 as a gene mutated in Knobloch syndrome
Mohammed A. Aldahmesh et al.
JOURNAL OF MEDICAL GENETICS (2011)
Using next-generation sequencing for the diagnosis of rare disorders: a family with retinitis pigmentosa and skeletal abnormalities
Kasmintan A. Schrader et al.
JOURNAL OF PATHOLOGY (2011)
DICER1 deficit induces Alu RNA toxicity in age-related macular degeneration
Hiroki Kaneko et al.
NATURE (2011)
A rare penetrant mutation in CFH confers high risk of age-related macular degeneration
Soumya Raychaudhuri et al.
NATURE GENETICS (2011)
Needles in stacks of needles: finding disease-causal variants in a wealth of genomic data
Gregory M. Cooper et al.
NATURE REVIEWS GENETICS (2011)
Exome sequencing as a tool for Mendelian disease gene discovery
Michael J. Bamshad et al.
NATURE REVIEWS GENETICS (2011)
APPLICATIONS OF NEXT-GENERATION SEQUENCING Genome structural variation discovery and genotyping
Can Alkan et al.
NATURE REVIEWS GENETICS (2011)
The long noncoding RNA Six3OS acts in trans to regulate retinal development by modulating Six3 activity
Nicole A. Rapicavoli et al.
NEURAL DEVELOPMENT (2011)
Mechanisms of Disease: Ciliopathies
Friedhelm Hildebrandt et al.
NEW ENGLAND JOURNAL OF MEDICINE (2011)
Simultaneous Mutation Detection in 90 Retinal Disease Genes in Multiple Patients Using a Custom-designed 300-kb Retinal Resequencing Chip
Judith C. Booij et al.
OPHTHALMOLOGY (2011)
A 32 kb Critical Region Excluding Y402H in CFH Mediates Risk for Age-Related Macular Degeneration
Theru A. Sivakumaran et al.
PLOS ONE (2011)
Exome sequencing and analysis of induced pluripotent stem cells identify the cilia-related gene male germ cell-associated kinase (MAK) as a cause of retinitis pigmentosa
Budd A. Tucker et al.
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA (2011)
The study of eQTL variations by RNA-seq: from SNPs to phenotypes
Jacek Majewski et al.
TRENDS IN GENETICS (2011)
A systems-biology approach to understanding the ciliopathy disorders
Ji Eun Lee et al.
GENOME MEDICINE (2011)
Exome Sequencing Identifies ZNF644 Mutations in High Myopia
Yi Shi et al.
PLOS GENETICS (2011)
Identification of Disease-Causing Mutations in Autosomal Dominant Retinitis Pigmentosa (adRP) Using Next-Generation DNA Sequencing
Sara J. Bowne et al.
INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE (2011)
High-Throughput Retina-Array for Screening 93 Genes Involved in Inherited Retinal Dystrophy
Jin Song et al.
INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE (2011)
Copy Number Variations in Candidate Genes in Neovascular Age-Related Macular Degeneration
Melissa M. Liu et al.
INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE (2011)
Next-Generation Sequencing of a 40 Mb Linkage Interval Reveals TSPAN12 Mutations in Patients with Familial Exudative Vitreoretinopathy
Konstantinos Nikopoulos et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2010)
The Genomic, Biochemical, and Cellular Responses of the Retina in Inherited Photoreceptor Degenerations and Prospects for the Treatment of These Disorders
Alexa N. Bramall et al.
ANNUAL REVIEW OF NEUROSCIENCE, VOL 33 (2010)
MicroRNA-204/211 alters epithelial physiology
Fei E. Wang et al.
FASEB JOURNAL (2010)
CRX ChIP-seq reveals the cis-regulatory architecture of mouse photoreceptors
Joseph C. Corbo et al.
GENOME RESEARCH (2010)
Genetic Screening of LCA in Belgium: Predominance of CEP290 and Identification of Potential Modifier Alleles in AHI1 of CEP290-related Phenotypes
Frauke Coppieters et al.
HUMAN MUTATION (2010)
PDZD7 is a modifier of retinal disease and a contributor to digenic Usher syndrome
Inga Ebermann et al.
JOURNAL OF CLINICAL INVESTIGATION (2010)
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)
Candidate exome capture identifies mutation of SDCCAG8 as the cause of a retinal-renal ciliopathy
Edgar A. Otto et al.
NATURE GENETICS (2010)
Common variants near CAV1 and CAV2 are associated with primary open-angle glaucoma
Gudmar Thorleifsson et al.
NATURE GENETICS (2010)
APPLICATIONS OF NEXT-GENERATION SEQUENCING Sequencing technologies - the next generation
Michael L. Metzker
NATURE REVIEWS GENETICS (2010)
APPLICATIONS OF NEXT-GENERATION SEQUENCING RNA processing and its regulation: global insights into biological networks
Donny D. Licatalosi et al.
NATURE REVIEWS GENETICS (2010)
Photoreceptor degeneration: genetic and mechanistic dissection of a complex trait
Alan F. Wright et al.
NATURE REVIEWS GENETICS (2010)
Transcriptional regulation of photoreceptor development and homeostasis in the mammalian retina
Anand Swaroop et al.
NATURE REVIEWS NEUROSCIENCE (2010)
Genetic variants near TIMP3 and high-density lipoprotein-associated loci influence susceptibility to age-related macular degeneration
Wei Chen et al.
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA (2010)
The molecular basis of human retinal and vitreoretinal diseases
Wolfgang Berger et al.
PROGRESS IN RETINAL AND EYE RESEARCH (2010)
Identification and Functional Analysis of the Vision-Specific BBS3 (ARL6) Long Isoform
Pamela R. Pretorius et al.
PLOS GENETICS (2010)
ABCA4 and ROM1: Implications for Modification of the PRPH2-Associated Macular Dystrophy Phenotype
Charlotte M. Poloschek et al.
INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE (2010)
Unraveling a Multifactorial Late-Onset Disease: From Genetic Susceptibility to Disease Mechanisms for Age-Related Macular Degeneration
Anand Swaroop et al.
ANNUAL REVIEW OF GENOMICS AND HUMAN GENETICS (2009)
Applications of New Sequencing Technologies for Transcriptome Analysis
Olena Morozova et al.
ANNUAL REVIEW OF GENOMICS AND HUMAN GENETICS (2009)
Finding the missing heritability of complex diseases
Teri A. Manolio et al.
NATURE (2009)
Targeted capture and massively parallel sequencing of 12 human exomes
Sarah B. Ng et al.
NATURE (2009)
Solution hybrid selection with ultra-long oligonucleotides for massively parallel targeted sequencing
Andreas Gnirke et al.
NATURE BIOTECHNOLOGY (2009)
A common allele in RPGRIP1L is a modifier of retinal degeneration in ciliopathies
Hemant Khanna et al.
NATURE GENETICS (2009)
RNA-Seq: a revolutionary tool for transcriptomics
Zhong Wang et al.
NATURE REVIEWS GENETICS (2009)
Genetic diagnosis by whole exome capture and massively parallel DNA sequencing
Murim Choi et al.
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA (2009)
Clinical features of the congenital vitreoretinopathies
A. O. Edwards
EYE (2008)
Dicer inactivation leads to progressive functional and structural degeneration of the mouse retina
Devid Damiani et al.
JOURNAL OF NEUROSCIENCE (2008)
Alternative isoform regulation in human tissue transcriptomes
Eric T. Wang et al.
NATURE (2008)
Common and rare variants in multifactorial susceptibility to common diseases
Walter Bodmer et al.
NATURE GENETICS (2008)
Genome-wide approaches to studying chromatin modifications
Dustin E. Schones et al.
NATURE REVIEWS GENETICS (2008)
Deletion of CFHR3 and CFHR1 genes in age-related macular degeneration
Kylee L. Spencer et al.
HUMAN MOLECULAR GENETICS (2008)
Evolution of the vertebrate eye: opsins, photoreceptors, retina and eye cup
Trevor D. Lamb et al.
NATURE REVIEWS NEUROSCIENCE (2007)
Paired-end mapping reveals extensive structural variation in the human genome
Jan O. Korbel et al.
SCIENCE (2007)
Splicing in disease: disruption of the splicing code and the decoding machinery
Guey-Shin Wang et al.
NATURE REVIEWS GENETICS (2007)
MicroRNA (miRNA) transcriptome of mouse retina and identification of a sensory organ-specific miRNA cluster
Shunbin Xu et al.
JOURNAL OF BIOLOGICAL CHEMISTRY (2007)
A common CFH haplotype, with deletion of CFHR1 and CFHR3, is associated with lower risk of age-related macular degeneration
Anne E. Hughes et al.
NATURE GENETICS (2006)
Detection of mammalian microRNA expression by in situ hybridization with RNA oligonucleotides
Monika Deo et al.
DEVELOPMENTAL DYNAMICS (2006)
Extended haplotypes in the complement factor H (CFH) and CFH-related (CFHR) family of genes protect against age-related macular degeneration: Characterization, ethnic distribution and evolutionary implications
Gregory S. Hageman et al.
ANNALS OF MEDICINE (2006)
Mapping determinants of human gene expression by regional and genome-wide association
VG Cheung et al.
NATURE (2005)
Fine-scale structural variation of the human genome
E Tuzun et al.
NATURE GENETICS (2005)
Complement factor H polymorphism in age-related macular degeneration
RJ Klein et al.
SCIENCE (2005)
Natural antisense transcripts associated with genes involved in eye development
G Alfano et al.
HUMAN MOLECULAR GENETICS (2005)
The noncoding RNA Taurine upregulated gene 1 is required for differentiation of the murine retina
TL Young et al.
CURRENT BIOLOGY (2005)
Extremely discordant sib-pair study design to determine risk factors for neovascular age-related macular degeneration
MM DeAngelis et al.
ARCHIVES OF OPHTHALMOLOGY (2004)
Genetic modifiers of vision and hearing
NB Haider et al.
HUMAN MOLECULAR GENETICS (2002)
Are rare variants responsible for susceptibility to complex diseases?
JK Pritchard
AMERICAN JOURNAL OF HUMAN GENETICS (2001)
Modifier genes in mice and humans
JH Nadeau
NATURE REVIEWS GENETICS (2001)
Further evidence for an association of ABCR alleles with age-related macular degeneration
R Allikmets
AMERICAN JOURNAL OF HUMAN GENETICS (2000)
分享论文
