Precise genomic editing of pathogenic mutations in RBM20 rescues dilated cardiomyopathy

Engineered virus-like particles for efficient in vivo delivery of therapeutic proteins

(2022) Samagya Banskota et al.   CELL

RBM20S639G mutation is a high genetic risk factor for premature death through RNA-protein condensates

(2022) Chunyan Wang et al.   JOURNAL OF MOLECULAR AND CELLULAR CARDIOLOGY

A split prime editor with untethered reverse transcriptase and circular RNA template

(2022) Bin Liu et al.   NATURE BIOTECHNOLOGY

In vivo prime editing of a metabolic liver disease in mice

(2022) Desirée Böck et al.   Science Translational Medicine

Transient expression of an adenine base editor corrects the Hutchinson-Gilford progeria syndrome mutation and improves the skin phenotype in mice

(2022) Daniel Whisenant et al.   Nature Communications

In vivo base editing rescues cone photoreceptors in a mouse model of early-onset inherited retinal degeneration

(2022) Elliot H. Choi et al.   Nature Communications

CRISPR Modeling and Correction of Cardiovascular Disease

(2022) Ning Liu et al.   CIRCULATION RESEARCH

In vivo base editing rescues Hutchinson–Gilford progeria syndrome in mice

(2021) Luke W. Koblan et al.   NATURE

An Evidence-Based Assessment of Genes in Dilated Cardiomyopathy

(2021) Elizabeth Jordan et al.   CIRCULATION

Precise correction of Duchenne muscular dystrophy exon deletion mutations by base and prime editing

(2021) F. Chemello et al.   Science Advances

Efficient precise in vivo base editing in adult dystrophic mice

(2021) Li Xu et al.   Nature Communications

Application of prime editing to the correction of mutations and phenotypes in adult mice with liver and eye diseases

(2021) Hyewon Jang et al.   Nature Biomedical Engineering

Enhanced prime editing systems by manipulating cellular determinants of editing outcomes

(2021) Peter J. Chen et al.   CELL

Toward CRISPR Therapies for Cardiomyopathies

(2021) Takahiko Nishiyama et al.   CIRCULATION

Gain-of-function cardiomyopathic mutations in RBM20 rewire splicing regulation and re-distribute ribonucleoprotein granules within processing bodies

(2021) Aidan M. Fenix et al.   Nature Communications

Cytosine and adenine base editing of the brain, liver, retina, heart and skeletal muscle of mice via adeno-associated viruses

(2020) Jonathan M. Levy et al.   Nature Biomedical Engineering

Dynamic Transcriptional Responses to Injury of Regenerative and Non-regenerative Cardiomyocytes Revealed by Single-Nucleus RNA Sequencing

(2020) Miao Cui et al.   DEVELOPMENTAL CELL

Phage-assisted evolution of an adenine base editor with improved Cas domain compatibility and activity

(2020) Michelle F. Richter et al.   NATURE BIOTECHNOLOGY

A compact Cas9 ortholog from Staphylococcus Auricularis (SauriCas9) expands the DNA targeting scope

(2020) Ziying Hu et al.   PLOS BIOLOGY

Genome editing with CRISPR–Cas nucleases, base editors, transposases and prime editors

(2020) Andrew V. Anzalone et al.   NATURE BIOTECHNOLOGY

DNA capture by a CRISPR-Cas9–guided adenine base editor

(2020) Audrone Lapinaite et al.   SCIENCE

HPC-REDItools: a novel HPC-aware tool for improved large scale RNA-editing analysis

(2020) Tiziano Flati et al.   BMC BIOINFORMATICS

CRISPR-Cas9 corrects Duchenne muscular dystrophy exon 44 deletion mutations in mice and human cells

(2019) Yi-Li Min et al.   Science Advances

Regional Variation in RBM20 Causes a Highly Penetrant Arrhythmogenic Cardiomyopathy

(2019) Victoria N. Parikh et al.   Circulation-Heart Failure

Pathogenic RBM20 -Variants Are Associated With a Severe Disease Expression in Male Patients With Dilated Cardiomyopathy

(2019) Thomas Morris Hey et al.   Circulation-Heart Failure

Transcriptome-wide off-target RNA editing induced by CRISPR-guided DNA base editors

(2019) Julian Grünewald et al.   NATURE

Circularly permuted and PAM-modified Cas9 variants broaden the targeting scope of base editors

(2019) Tony P. Huang et al.   NATURE BIOTECHNOLOGY

Comprehensive Integration of Single-Cell Data

(2019) Tim Stuart et al.   CELL

Off-target RNA mutation induced by DNA base editing and its elimination by mutagenesis

(2019) Changyang Zhou et al.   NATURE

Metascape provides a biologist-oriented resource for the analysis of systems-level datasets

(2019) Yingyao Zhou et al.   Nature Communications

Search-and-replace genome editing without double-strand breaks or donor DNA

(2019) Andrew V. Anzalone et al.   NATURE

Genetics of dilated cardiomyopathy: practical implications for heart failure management

(2019) Andrew N. Rosenbaum et al.   Nature Reviews Cardiology

Improving cytidine and adenine base editors by expression optimization and ancestral reconstruction

(2018) Luke W Koblan et al.   NATURE BIOTECHNOLOGY

Lipid Nanoparticles Enabling Gene Therapies: From Concepts to Clinical Utility

(2018) Jayesh A. Kulkarni et al.   Nucleic Acid Therapeutics

Exploring the Crosstalk Between LMNA and Splicing Machinery Gene Mutations in Dilated Cardiomyopathy

(2018) Hind C. Zahr et al.   Frontiers in Genetics

Publisher Correction: Base editing: precision chemistry on the genome and transcriptome of living cells

(2018) Holly A. Rees et al.   NATURE REVIEWS GENETICS

Programmable base editing of A•T to G•C in genomic DNA without DNA cleavage

(2017) Nicole M. Gaudelli et al.   NATURE

In vivo genome editing with a small Cas9 orthologue derived from Campylobacter jejuni

(2017) Eunji Kim et al.   Nature Communications

CRISPR-Cpf1 correction of muscular dystrophy mutations in human cardiomyocytes and mice

(2017) Yu Zhang et al.   Science Advances

A mutation in the glutamate-rich region of RNA-binding motif protein 20 causes dilated cardiomyopathy through missplicing of titin and impaired Frank–Starling mechanism

(2016) Abdelaziz Beqqali et al.   CARDIOVASCULAR RESEARCH

High-fidelity CRISPR–Cas9 nucleases with no detectable genome-wide off-target effects

(2016) Benjamin P. Kleinstiver et al.   NATURE

A multifunctional AAV–CRISPR–Cas9 and its host response

(2016) Wei Leong Chew et al.   NATURE METHODS

A peptide encoded by a transcript annotated as long noncoding RNA enhances SERCA activity in muscle

(2016) B. R. Nelson et al.   SCIENCE

HTSeq--a Python framework to work with high-throughput sequencing data

(2014) S. Anders et al.   BIOINFORMATICS

Cardiac-Specific YAP Activation Improves Cardiac Function and Survival in an Experimental Murine MI Model

(2014) Zhiqiang Lin et al.   CIRCULATION RESEARCH

Genome engineering using the CRISPR-Cas9 system

(2013) F Ann Ran et al.   Nature Protocols

Dilated cardiomyopathy: the complexity of a diverse genetic architecture

(2013) Ray E. Hershberger et al.   Nature Reviews Cardiology

STAR: ultrafast universal RNA-seq aligner

(2012) Alexander Dobin et al.   BIOINFORMATICS

RBM20, a gene for hereditary cardiomyopathy, regulates titin splicing

(2012) Wei Guo et al.   NATURE MEDICINE

Fast gapped-read alignment with Bowtie 2

(2012) Ben Langmead et al.   NATURE METHODS

Differential expression analysis of multifactor RNA-Seq experiments with respect to biological variation

(2012) Davis J. McCarthy et al.   NUCLEIC ACIDS RESEARCH

Identification of Novel Mutations in RBM20 in Patients with Dilated Cardiomyopathy

(2010) Duanxiang Li et al.   CTS-Clinical and Translational Science

The Sequence Alignment/Map format and SAMtools

(2009) H. Li et al.   BIOINFORMATICS

edgeR: a Bioconductor package for differential expression analysis of digital gene expression data

(2009) M. D. Robinson et al.   BIOINFORMATICS

Mutations in Ribonucleic Acid Binding Protein Gene Cause Familial Dilated Cardiomyopathy

(2009) Katharine M. Brauch et al.   JOURNAL OF THE AMERICAN COLLEGE OF CARDIOLOGY