Related references
Note: Only part of the references are listed.Diagnostic utility of transcriptome sequencing for rare Mendelian diseases
Hane Lee et al.
GENETICS IN MEDICINE (2020)
Diagnosing Cornelia de Lange syndrome and related neurodevelopmental disorders using RNA sequencing
Stefan Rentas et al.
GENETICS IN MEDICINE (2020)
A combined RNA-seq and whole genome sequencing approach for identification of non-coding pathogenic variants in single families
Revital Bronstein et al.
HUMAN MOLECULAR GENETICS (2020)
Deep learning predicts function of live retinal pigment epithelium from quantitative microscopy
Nicholas J. Schaub et al.
JOURNAL OF CLINICAL INVESTIGATION (2020)
Clarin-1 expression in adult mouse and human retina highlights a role of Muller glia in Usher syndrome
Lei Xu et al.
JOURNAL OF PATHOLOGY (2020)
Mechanisms of tissue and cell-type specificity in heritable traits and diseases
Idan Hekselman et al.
NATURE REVIEWS GENETICS (2020)
Chromatin accessibility analysis reveals regulatory dynamics of developing human retina and hiPSC-derived retinal organoids
Haohuan Xie et al.
SCIENCE ADVANCES (2020)
Single-Cell RNA Sequencing in Human Retinal Degeneration Reveals Distinct Glial Cell Populations
Andrew P. Voigt et al.
CELLS (2020)
Patient-Specific Retinal Organoids Recapitulate Disease Features of Late-Onset Retinitis Pigmentosa
Mei-Ling Gao et al.
FRONTIERS IN CELL AND DEVELOPMENTAL BIOLOGY (2020)
New Diagnostic Approaches for Undiagnosed Rare Genetic Diseases
Taila Hartley et al.
ANNUAL REVIEW OF GENOMICS AND HUMAN GENETICS, VOL 21, 2020 (2020)
Integration of eQTL and a Single-Cell Atlas in the Human Eye Identifies Causal Genes for Age-Related Macular Degeneration
Luz D. Orozco et al.
CELL REPORTS (2020)
Single-Cell Transcriptomic Comparison of Human Fetal Retina, hPSC-Derived Retinal Organoids, and Long-Term Retinal Cultures
Akshayalakshmi Sridhar et al.
CELL REPORTS (2020)
LeafCutterMD: an algorithm for outlier splicing detection in rare diseases
Garrett Jenkinson et al.
BIOINFORMATICS (2020)
A Non-Coding Disease Modifier of Pancreatic Agenesis Identified by Genetic Correction in a Patient-Derived iPSC Line
Siddharth Kishore et al.
CELL STEM CELL (2020)
Single-Cell Analysis of Human Retina Identifies Evolutionarily Conserved and Species-Specific Mechanisms Controlling Development
Yufeng Lu et al.
DEVELOPMENTAL CELL (2020)
Resolving the dark matter of ABCA4 for 1054 Stargardt disease probands through integrated genomics and transcriptomics
Mubeen Khan et al.
GENETICS IN MEDICINE (2020)
Variability in Gene Expression is Associated with Incomplete Penetrance in Inherited Eye Disorders
David J. Green et al.
GENES (2020)
Deregulation of Neuro-Developmental Genes and Primary Cilium Cytoskeleton Anomalies in iPSC Retinal Sheets from Human Syndromic Ciliopathies
Andrea Barabino et al.
STEM CELL REPORTS (2020)
The mutational constraint spectrum quantified from variation in 141,456 humans
Konrad J. Karczewski et al.
NATURE (2020)
Single-cell RNA counting at allele and isoform resolution using Smart-seq3
Michael Hagemann-Jensen et al.
NATURE BIOTECHNOLOGY (2020)
DYNC2H1hypomorphic or retina-predominant variants cause nonsyndromic retinal degeneration
Anjali Vig et al.
GENETICS IN MEDICINE (2020)
Cell Types of the Human Retina and Its Organoids at Single-Cell Resolution
Cameron S. Cowan et al.
CELL (2020)
Genome editing with CRISPR-Cas nucleases, base editors, transposases and prime editors
Andrew V. Anzalone et al.
NATURE BIOTECHNOLOGY (2020)
Dynamic full-field optical coherence tomography: 3D live-imaging of retinal organoids
Jules Scholler et al.
LIGHT-SCIENCE & APPLICATIONS (2020)
Detailed Phenotyping and Therapeutic Strategies for Intronic ABCA4 Variants in Stargardt Disease
Mubeen Khan et al.
MOLECULAR THERAPY-NUCLEIC ACIDS (2020)
Investigating cone photoreceptor development using patient-derived NRL null retinal organoids
Alyssa Kallman et al.
COMMUNICATIONS BIOLOGY (2020)
Gene therapy for visual loss: Opportunities and concerns
Jia Hui Lee et al.
PROGRESS IN RETINAL AND EYE RESEARCH (2019)
Patient-derived induced pluripotent stem cells for modelling genetic retinal dystrophies
Leah P. Foltz et al.
PROGRESS IN RETINAL AND EYE RESEARCH (2019)
Induced pluripotent stem cells in disease modelling and drug discovery
R. Grant Rowe et al.
NATURE REVIEWS GENETICS (2019)
Integrative single-cell analysis
Tim Stuart et al.
NATURE REVIEWS GENETICS (2019)
Fabricating retinal pigment epithelial cell sheets derived from human induced pluripotent stem cells in an automated closed culture system for regenerative medicine
Erino Matsumoto et al.
PLOS ONE (2019)
Photoreceptor cell replacement in macular degeneration and retinitis pigmentosa: A pluripotent stem cell-based approach
Giuliana Gagliardi et al.
PROGRESS IN RETINAL AND EYE RESEARCH (2019)
CRX Expression in Pluripotent Stem Cell-Derived Photoreceptors Marks a Transplantable Subpopulation of Early Cones
Joseph Collin et al.
STEM CELLS (2019)
Stem Cells in the Treatment of Disease
Helen M. Blau et al.
NEW ENGLAND JOURNAL OF MEDICINE (2019)
Generation, transcriptome profiling, and functional validation of cone-rich human retinal organoids
Sangbae Kim et al.
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA (2019)
Correction of NR2E3 Associated Enhanced S-cone Syndrome Patient-specific iPSCs using CRISPR-Cas9
Laura R. Bohrer et al.
GENES (2019)
Atlas of RNA sequencing profiles for normal human tissues
Maria Suntsova et al.
SCIENTIFIC DATA (2019)
Current Challenges of iPSC-Based Disease Modeling and Therapeutic Implications
Michael Xavier Doss et al.
CELLS (2019)
Molecular characterization of foveal versus peripheral human retina by single-cell RNA sequencing
A. P. Voigt et al.
EXPERIMENTAL EYE RESEARCH (2019)
Identification of rare-disease genes using blood transcriptome sequencing and large control cohorts
Laure Fresard et al.
NATURE MEDICINE (2019)
A single-cell transcriptome atlas of the adult human retina
Samuel W. Lukowski et al.
EMBO JOURNAL (2019)
Accelerated photoreceptor differentiation of hiPSC-derived retinal organoids by contact co-culture with retinal pigment epithelium
Tasneem Akhtar et al.
STEM CELL RESEARCH (2019)
Merging organoid and organ-on-a-chip technology to generate complex multi-layer tissue models in a human retina-on-a-chip platform
Kevin Achberger et al.
ELIFE (2019)
Transcriptional Profiling of Stem Cells: Moving from Descriptive to Predictive Paradigms
Christine A. Wells et al.
STEM CELL REPORTS (2019)
Search-and-replace genome editing without double-strand breaks or donor DNA
Andrew V. Anzalone et al.
NATURE (2019)
Single-cell transcriptomics of the human retinal pigment epithelium and choroid in health and macular degeneration
Andrew P. Voigt et al.
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA (2019)
Single-cell transcriptomic atlas of the human retina identifies cell types associated with age-related macular degeneration
Madhvi Menon et al.
NATURE COMMUNICATIONS (2019)
Base-Resolution Methylome of Retinal Pigment Epithelial Cells Used in the First Trial of Human Induced Pluripotent Stem Cell-Based Autologous Transplantation
Hiromitsu Araki et al.
STEM CELL REPORTS (2019)
Morphological and Molecular Defects in Human Three-Dimensional Retinal Organoid Model of X-Linked Juvenile Retinoschisis
Kang-Chieh Huang et al.
STEM CELL REPORTS (2019)
Single-Cell RNA Sequencing of hESC-Derived 3D Retinal Organoids Reveals Novel Genes Regulating RPC Commitment in Early Human Retinogenesis
Xiying Mao et al.
STEM CELL REPORTS (2019)
RNA sequencing solved the most common but unrecognized NEB pathogenic variant in Japanese nemaline myopathy
Kohei Hamanaka et al.
GENETICS IN MEDICINE (2019)
Stemming retinal regeneration with pluripotent stem cells
Zi-Bing Jin et al.
PROGRESS IN RETINAL AND EYE RESEARCH (2019)
Deconstructing Retinal Organoids: Single Cell RNA-Seq Reveals the Cellular Components of Human Pluripotent Stem Cell-Derived Retina
Joseph Collin et al.
STEM CELLS (2019)
Expanding the Boundaries of RNA Sequencing as a Diagnostic Tool for Rare Mendelian Disease
Hernan D. Gonorazky et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2019)
Annotation-free quantification of RNA splicing using LeafCutter
Yang I. Li et al.
NATURE GENETICS (2018)
A Novel Approach to Single Cell RNA-Sequence Analysis Facilitates In Silico Gene Reporting of Human Pluripotent Stem Cell-Derived Retinal Cell Types
M. Joseph Phillips et al.
STEM CELLS (2018)
Identification and Rescue of Splice Defects Caused by Two Neighboring Deep-Intronic ABCA4 Mutations Underlying Stargardt Disease
Silvia Albert et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2018)
Slingshot: cell lineage and pseudotime inference for single-cell transcriptomics
Kelly Street et al.
BMC GENOMICS (2018)
IFT88 mutations identified in individuals with non-syndromic recessive retinal degeneration result in abnormal ciliogenesis
Anil Chekuri et al.
HUMAN GENETICS (2018)
Transcriptomics: molecular diagnosis of inborn errors of metabolism via RNA-sequencing
Laura S. Kremer et al.
JOURNAL OF INHERITED METABOLIC DISEASE (2018)
C8ORF37 Is Required for Photoreceptor Outer Segment Disc Morphogenesis by Maintaining Outer Segment Membrane Protein Homeostasis
Ali S. Sharif et al.
JOURNAL OF NEUROSCIENCE (2018)
Integrative omics for health and disease
Konrad J. Karczewski et al.
NATURE REVIEWS GENETICS (2018)
CRISPR-Cas9 genome engineering: Treating inherited retinal degeneration
Erin R. Burnight et al.
PROGRESS IN RETINAL AND EYE RESEARCH (2018)
Autosomal Recessive NRL Mutations in Patients with Enhanced S-Cone Syndrome
Karin W. Littink et al.
GENES (2018)
20th Anniversary of Isolation of Human Embryonic Stem Cells: A Personal Perspective
Joseph Itskovitz-Eldor
STEM CELL REPORTS (2018)
Single cell RNA sequencing of stem cell-derived retinal ganglion cells
Maciej Brisbane Daniszewski et al.
SCIENTIFIC DATA (2018)
A novel, flexible and automated manufacturing facility for cell-based health care products: Tissue Factory
Tetsutaro Kikuchi et al.
REGENERATIVE THERAPY (2018)
OUTRIDER: A Statistical Method for Detecting Aberrantly Expressed Genes in RNA Sequencing Data
Felix Brechtmann et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2018)
Debate ethics of embryo models from stem cells
Nicolas Rivron et al.
NATURE (2018)
Thyroid hormone signaling specifies cone subtypes in human retinal organoids
Kiara C. Eldred et al.
SCIENCE (2018)
The ExAC browser: displaying reference data information from over 60 000 exomes
Konrad J. Karczewski et al.
NUCLEIC ACIDS RESEARCH (2017)
Integrated genome and transcriptome sequencing identifies a noncoding mutation in the genome replication factor DONSON as the cause of microcephaly-micromelia syndrome
Gilad D. Evrony et al.
GENOME RESEARCH (2017)
Whole-transcriptome sequencing in blood provides a diagnosis of spinal muscular atrophy with progressive myoclonic epilepsy
Kristin D. Kernohan et al.
HUMAN MUTATION (2017)
Genetic effects on gene expression across human tissues
Francois Aguet et al.
NATURE (2017)
Programmable base editing of A.T to G.C in genomic DNA without DNA cleavage
Nicole M. Gaudelli et al.
NATURE (2017)
Autologous Induced Stem-Cell-Derived Retinal Cells for Macular Degeneration
M. Mandai et al.
NEW ENGLAND JOURNAL OF MEDICINE (2017)
Clinically Focused Molecular Investigation of 1000 Consecutive Families with Inherited Retinal Disease
Edwin M. Stone et al.
OPHTHALMOLOGY (2017)
Unravelling the genetics of inherited retinal dystrophies: Past, present and future
Suzanne Broadgate et al.
PROGRESS IN RETINAL AND EYE RESEARCH (2017)
Improving genetic diagnosis in Mendelian disease with transcriptome sequencing
Beryl B. Cummings et al.
SCIENCE TRANSLATIONAL MEDICINE (2017)
Patient-specific induced pluripotent stem cells to evaluate the pathophysiology of TRNT1-associated Retinitis pigmentosa
Tasneem P. Sharma et al.
STEM CELL RESEARCH (2017)
Generation of Storable Retinal Organoids and Retinal Pigmented Epithelium from Adherent Human iPS Cells in Xeno-Free and Feeder-Free Conditions
Sacha Reichman et al.
STEM CELLS (2017)
Genetic diagnosis of Mendelian disorders via RNA sequencing
Laura S. Kremer et al.
NATURE COMMUNICATIONS (2017)
Allelic Expression Imbalance in the Human Retinal Transcriptome and Potential Impact on Inherited Retinal Diseases
Pablo Llavona et al.
GENES (2017)
Recapitulation of Human Retinal Development from Human Pluripotent Stem Cells Generates Transplantable Populations of Cone Photoreceptors
Anai Gonzalez-Cordero et al.
STEM CELL REPORTS (2017)
Pluri-IQ: Quantification of Embryonic Stem Cell Pluripotency through an Image-Based Analysis Software
Tania Perestrelo et al.
STEM CELL REPORTS (2017)
Development of a Modular Automated System for Maintenance and Differentiation of Adherent Human Pluripotent Stem Cells
Duncan E. Crombie et al.
SLAS DISCOVERY (2017)
Photoreceptor Outer Segment-like Structures in Long-Term 3D Retinas from Human Pluripotent Stem Cells
Karl J. Wahlin et al.
SCIENTIFIC REPORTS (2017)
Method for evaluation of human induced pluripotent stem cell quality using image analysis based on the biological morphology of cells
Takashi Wakui et al.
JOURNAL OF MEDICAL IMAGING (2017)
Aberrant DNA Methylation in Human iPSCs Associates with MYC-Binding Motifs in a Clone-Specific Manner Independent of Genetics
Athanasia D. Panopoulos et al.
CELL STEM CELL (2017)
Ethical issues in human organoid and gastruloid research
Megan Munsie et al.
DEVELOPMENT (2017)
Comprehensive Rare Variant Analysis via Whole-Genome Sequencing to Determine the Molecular Pathology of Inherited Retinal Disease
Keren J. Carss et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2017)
Hypomorphic mutations in TRNT1 cause retinitis pigmentosa with erythrocytic microcytosis
Adam P. DeLuca et al.
HUMAN MOLECULAR GENETICS (2016)
Animal modelling for inherited central vision loss
Corinne Kostic et al.
JOURNAL OF PATHOLOGY (2016)
Concise Review: Patient-Specific Stem Cells to Interrogate Inherited Eye Disease
Joseph C. Giacalone et al.
STEM CELLS TRANSLATIONAL MEDICINE (2016)
Comparability of automated human induced pluripotent stem cell culture: a pilot study
Peter R. T. Archibald et al.
BIOPROCESS AND BIOSYSTEMS ENGINEERING (2016)
Induced Pluripotent Stem Cells Meet Genome Editing
Dirk Hockemeyer et al.
CELL STEM CELL (2016)
Single-cell analyses of X Chromosome inactivation dynamics and pluripotency during differentiation
Geng Chen et al.
GENOME RESEARCH (2016)
Molecular findings from 537 individuals with inherited retinal disease
Jamie M. Ellingford et al.
JOURNAL OF MEDICAL GENETICS (2016)
Programmable editing of a target base in genomic DNA without double-stranded DNA cleavage
Alexis C. Komor et al.
NATURE (2016)
Translating RNA sequencing into clinical diagnostics: opportunities and challenges
Sara A. Byron et al.
NATURE REVIEWS GENETICS (2016)
North Carolina Macular Dystrophy Is Caused by Dysregulation of the Retinal Transcription Factor PRDM13
Kent W. Small et al.
OPHTHALMOLOGY (2016)
Next generation sequencing technology and genomewide data analysis: Perspectives for retinal research
Vijender Chaitankar et al.
PROGRESS IN RETINAL AND EYE RESEARCH (2016)
Induced pluripotent stem cells, past and future
Eirini P. Papapetrou
SCIENCE (2016)
cGMP production of patient-specific iPSCs and photoreceptor precursor cells to treat retinal degenerative blindness
Luke A. Wiley et al.
SCIENTIFIC REPORTS (2016)
Panel-Based Population Next-Generation Sequencing for Inherited Retinal Degenerations
Matthew Carrigan et al.
SCIENTIFIC REPORTS (2016)
RNAseq analysis for the diagnosis of muscular dystrophy
Hernan Gonorazky et al.
ANNALS OF CLINICAL AND TRANSLATIONAL NEUROLOGY (2016)
Biased Allelic Expression in Human Primary Fibroblast Single Cells
Christelle Borel et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2015)
Highly Parallel Genome-wide Expression Profiling of Individual Cells Using Nanoliter Droplets
Evan Z. Macosko et al.
CELL (2015)
Differentiation of human embryonic stem cells into cone photoreceptors through simultaneous inhibition of BMP, TGFβ and Wnt signaling
Shufeng Zhou et al.
DEVELOPMENT (2015)
Biology and therapy of inherited retinal degenerative disease: insights from mouse models
Shobi Veleri et al.
DISEASE MODELS & MECHANISMS (2015)
Defining cell types and states with single-cell genomics
Cole Trapnell
GENOME RESEARCH (2015)
A comparison of genetically matched cell lines reveals the equivalence of human iPSCs and ESCs
Jiho Choi et al.
NATURE BIOTECHNOLOGY (2015)
Automated, high-throughput derivation, characterization and differentiation of induced pluripotent stem cells
Daniel Paull et al.
NATURE METHODS (2015)
Cellular strategies for retinal repair by photoreceptor replacement
Sujatha A. Jayakody et al.
PROGRESS IN RETINAL AND EYE RESEARCH (2015)
Long-term maintenance of human induced pluripotent stem cells by automated cell culture system
Shuhei Konagaya et al.
SCIENTIFIC REPORTS (2015)
A comparison of non-integrating reprogramming methods
Thorsten M. Schlaeger et al.
NATURE BIOTECHNOLOGY (2015)
Endoplasmic reticulum stress and the unfolded protein responses in retinal degeneration
Sarah X. Zhang et al.
EXPERIMENTAL EYE RESEARCH (2014)
Transcriptomic analysis across nasal, temporal, and macular regions of human neural retina and RPE/choroid by RNA-Seq
S. Scott Whitmore et al.
EXPERIMENTAL EYE RESEARCH (2014)
CEP290 gene transfer rescues Leber congenital amaurosis cellular phenotype
E. R. Burnight et al.
GENE THERAPY (2014)
Regulation of a novel isoform of Receptor Expression Enhancing Protein REEP6 in rod photoreceptors by bZIP transcription factor NRL
Hong Hao et al.
HUMAN MOLECULAR GENETICS (2014)
Stem cells for investigation and treatment of inherited retinal disease
Budd A. Tucker et al.
HUMAN MOLECULAR GENETICS (2014)
Comprehensive analysis of gene expression in human retina and supporting tissues
Mingyao Li et al.
HUMAN MOLECULAR GENETICS (2014)
Exome sequencing of Bardet-Biedl syndrome patient identifies a null mutation in the BBSome subunit BBIP1 (BBS18)
Sophie Scheidecker et al.
JOURNAL OF MEDICAL GENETICS (2014)
The dynamics and regulators of cell fate decisions are revealed by pseudotemporal ordering of single cells
Cole Trapnell et al.
NATURE BIOTECHNOLOGY (2014)
Full-length RNA-seq from single cells using Smart-seq2
Simone Picelli et al.
NATURE PROTOCOLS (2014)
From confluent human iPS cells to self-forming neural retina and retinal pigmented epithelium
Sacha Reichman et al.
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA (2014)
Single-Cell RNA-Seq Reveals Dynamic, Random Monoallelic Gene Expression in Mammalian Cells
Qiaolin Deng et al.
SCIENCE (2014)
Modeling Human Retinal Development with Patient-Specific Induced Pluripotent Stem Cells Reveals Multiple Roles for Visual System Homeobox 2
M. Joseph Phillips et al.
STEM CELLS (2014)
Generation of three-dimensional retinal tissue with functional photoreceptors from human iPSCs
Xiufeng Zhong et al.
NATURE COMMUNICATIONS (2014)
Characterization of Human Induced Pluripotent Stem Cell-Derived Retinal Pigment Epithelium Cell Sheets Aiming for Clinical Application
Hiroyuki Kamao et al.
STEM CELL REPORTS (2014)
A System for Automated, Noninvasive, Morphology-Based Evaluation of Induced Pluripotent Stem Cell Cultures
Mahnaz Maddah et al.
JALA (2014)
Massively parallel sequencing, aCGH, and RNA-Seq technologies provide a comprehensive molecular diagnosis of Fanconi anemia
Settara C. Chandrasekharappa et al.
BLOOD (2013)
Photoreceptor precursors derived from three-dimensional embryonic stem cell cultures integrate and mature within adult degenerate retina
Anai Gonzalez-Cordero et al.
NATURE BIOTECHNOLOGY (2013)
An Efficient Nonviral Method to Generate Integration-Free Human-Induced Pluripotent Stem Cells from Cord Blood and Peripheral Blood Cells
Keisuke Okita et al.
STEM CELLS (2013)
Use of a Synthetic Xeno-Free Culture Substrate for Induced Pluripotent Stem Cell Induction and Retinal Differentiation
Budd A. Tucker et al.
STEM CELLS TRANSLATIONAL MEDICINE (2013)
Patient-specific iPSC-derived photoreceptor precursor cells as a means to investigate retinitis pigmentosa
Budd A. Tucker et al.
ELIFE (2013)
Self-Formation of Optic Cups and Storable Stratified Neural Retina from Human ESCs
Tokushige Nakano et al.
CELL STEM CELL (2012)
Recommendations for Genetic Testing of Inherited Eye Diseases Report of the American Academy of Ophthalmology Task Force on Genetic Testing
Edwin M. Stone et al.
OPHTHALMOLOGY (2012)
Autosomal Recessive Retinitis Pigmentosa Due To ABCA4 Mutations: Clinical, Pathologic, and Molecular Characterization
Robert F. Mullins et al.
INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE (2012)
Self-organizing optic-cup morphogenesis in three-dimensional culture
Mototsugu Eiraku et al.
NATURE (2011)
Transplantation of Adult Mouse iPS Cell-Derived Photoreceptor Precursors Restores Retinal Structure and Function in Degenerative Mice
Budd A. Tucker 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)
Efficient generation of transgene-free human induced pluripotent stem cells (iPSCs) by temperature-sensitive Sendai virus vectors
Hiroshi Ban et al.
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA (2011)
Optic Vesicle-like Structures Derived from Human Pluripotent Stem Cells Facilitate a Customized Approach to Retinal Disease Treatment
Jason S. Meyer et al.
STEM CELLS (2011)
Protein Misfolding and Retinal Degeneration
Radouil Tzekov et al.
COLD SPRING HARBOR PERSPECTIVES IN BIOLOGY (2011)
Mutations in FLVCR1 Cause Posterior Column Ataxia and Retinitis Pigmentosa
Anjali M. Rajadhyaksha et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2010)
Generation, Purification and Transplantation of Photoreceptors Derived from Human Induced Pluripotent Stem Cells
Deepak A. Lamba et al.
PLOS ONE (2010)
Negative regulation of ciliary length by ciliary male germ cell-associated kinase (Mak) is required for retinal photoreceptor survival
Yoshihiro Omori et al.
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA (2010)
Autosomal-Dominant Retinitis Pigmentosa Caused by a Mutation in SNRNP200, a Gene Required for Unwinding of U4/U6 snRNAs
Chen Zhao et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2009)
Transplantation of Human Embryonic Stem Cell-Derived Photoreceptors Restores Some Visual Function in Crx-Deficient Mice
Deepak A. Lamba et al.
CELL STEM CELL (2009)
In vitro differentiation of retinal cells from human pluripotent stem cells by small-molecule induction
Fumitaka Osakada et al.
JOURNAL OF CELL SCIENCE (2009)
RNA-Seq: a revolutionary tool for transcriptomics
Zhong Wang et al.
NATURE REVIEWS GENETICS (2009)
Generation of retinal cells from mouse and human induced pluripotent stem cells
Yasuhiko Hirami et al.
NEUROSCIENCE LETTERS (2009)
Modeling early retinal development with human embryonic and induced pluripotent stem cells
Jason S. Meyer et al.
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA (2009)
Disease-specific induced pluripotent stem cells
In-Hyun Park et al.
CELL (2008)
Toward the generation of rod and cone photoreceptors from mouse, monkey and human embryonic stem cells
Fumitaka Osakada et al.
NATURE BIOTECHNOLOGY (2008)
Regulation of Prenatal Human Retinal Neurosphere Growth and Cell Fate Potential by Retinal Pigment Epithelium and Mash1
David M. Gamm et al.
STEM CELLS (2008)
Induction of pluripotent stem cells from adult human fibroblasts by defined factors
Kazutoshi Takahashi et al.
CELL (2007)
Directed neural differentiation of human embryonic stem cells via an obligated primitive anterior stage
Matthew T. Pankratz et al.
STEM CELLS (2007)
Mutations in the CEP290 (NPHP6) gene are a frequent cause of leber congenital amaurosis
Anneke I. den Hollander et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2006)
Induction of pluripotent stem cells from mouse embryonic and adult fibroblast cultures by defined factors
Kazutoshi Takahashi et al.
CELL (2006)
Efficient generation of retinal progenitor cells from human embryonic stem cells
Deepak A. Lamba et al.
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA (2006)
Usherin, the defective protein in Usher syndrome type IIA, is likely to be a component of interstereocilia ankle links in the inner ear sensory cells
A Adato et al.
HUMAN MOLECULAR GENETICS (2005)
Defective lysosomal arginine transport in juvenile Batten disease
D Ramirez-Montealegre et al.
HUMAN MOLECULAR GENETICS (2005)
Identification of 51 novel exons of the Usher syndrome type 2A (USH2A) gene that encode multiple conserved functional domains and that are mutated in patients with Usher syndrome type II
E van Wijk et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2004)
Photoreceptor-specific nuclear receptor NR2E3 functions as a transcriptional activator in rod photoreceptors
H Cheng et al.
HUMAN MOLECULAR GENETICS (2004)
Mutations of the mitochondrial ND1 gene as a cause of MELAS
DM Kirby et al.
JOURNAL OF MEDICAL GENETICS (2004)
Segmental neurofibromatosis in childhood
R Listernick et al.
AMERICAN JOURNAL OF MEDICAL GENETICS PART A (2003)
A rhodopsin mutant linked to autosomal dominant retinitis pigmentosa is prone to aggregate and interacts with the ubiquitin proteasome system
ME Illing et al.
JOURNAL OF BIOLOGICAL CHEMISTRY (2002)
USH3A transcripts encode clarin-1, a four- transmembrane-domain protein with a possible role in sensory synapses
A Adato et al.
EUROPEAN JOURNAL OF HUMAN GENETICS (2002)
The intraflagellar transport protein, IFT88, is essential for vertebrate photoreceptor assembly and maintenance
GJ Pazour et al.
JOURNAL OF CELL BIOLOGY (2002)
Molecular characterization of peripherin-2 and Rom-1 mutants responsible for digenic retinitis pigmentosa
CJR Loewen et al.
JOURNAL OF BIOLOGICAL CHEMISTRY (2001)