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

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

Directed evolution of adenine base editors with increased activity and therapeutic application

(2020) Nicole M. Gaudelli et al.   NATURE BIOTECHNOLOGY

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

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

Progress and trends in the development of therapies for Hutchinson–Gilford progeria syndrome

(2020) Wing‐Fu Lai et al.   AGING CELL

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

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

Development of a CRISPR/Cas9-based therapy for Hutchinson–Gilford progeria syndrome

(2019) Olaya Santiago-Fernández et al.   NATURE MEDICINE

Single-dose CRISPR–Cas9 therapy extends lifespan of mice with Hutchinson–Gilford progeria syndrome

(2019) Ergin Beyret et al.   NATURE MEDICINE

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

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

Precise in vivo genome editing via single homology arm donor mediated intron-targeting gene integration for genetic disease correction

(2019) Keiichiro Suzuki et al.   CELL RESEARCH

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

(2018) Luke W Koblan et al.   NATURE BIOTECHNOLOGY

A-to-I RNA editing — immune protector and transcriptome diversifier

(2018) Eli Eisenberg et al.   NATURE REVIEWS GENETICS

Cardiac Abnormalities in Patients With Hutchinson-Gilford Progeria Syndrome

(2018) Ashwin Prakash et al.   JAMA Cardiology

Treatment of a metabolic liver disease by in vivo genome base editing in adult mice

(2018) Lukas Villiger et al.   NATURE MEDICINE

Next-Generation Sequencing and Quantitative Proteomics of Hutchinson-Gilford progeria syndrome-derived cells point to a role of nucleotide metabolism in premature aging

(2018) Jesús Mateos et al.   PLoS One

Recombinant Adeno-Associated Viral Integration and Genotoxicity: Insights from Animal Models

(2017) Randy J. Chandler et al.   HUMAN GENE THERAPY

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

(2017) Nicole M. Gaudelli et al.   NATURE

CIRCLE-seq: a highly sensitive in vitro screen for genome-wide CRISPR–Cas9 nuclease off-targets

(2017) Shengdar Q Tsai et al.   NATURE METHODS

MultiQC: summarize analysis results for multiple tools and samples in a single report

(2016) Philip Ewels et al.   BIOINFORMATICS

Wild-type AAV Insertions in Hepatocellular Carcinoma Do Not Inform Debate Over Genotoxicity Risk of Vectorized AAV

(2016) Jean-Charles Nault et al.   MOLECULAR THERAPY

Programmable editing of a target base in genomic DNA without double-stranded DNA cleavage

(2016) Alexis C. Komor et al.   NATURE

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

(2016) Benjamin P. Kleinstiver et al.   NATURE

Optimized sgRNA design to maximize activity and minimize off-target effects of CRISPR-Cas9

(2016) John G Doench et al.   NATURE BIOTECHNOLOGY

Cardiac electrical defects in progeroid mice and Hutchinson–Gilford progeria syndrome patients with nuclear lamina alterations

(2016) José Rivera-Torres et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Sambamba: fast processing of NGS alignment formats

(2015) Artem Tarasov et al.   BIOINFORMATICS

Overexpression of Rab25 promotes hepatocellular carcinoma cell proliferation and invasion

(2015) Donghua Geng et al.   TUMOR BIOLOGY

Impact of Farnesylation Inhibitors on Survival in Hutchinson-Gilford Progeria Syndrome

(2014) Leslie B. Gordon et al.   CIRCULATION

Improved vectors and genome-wide libraries for CRISPR screening

(2014) Neville E Sanjana et al.   NATURE METHODS

Long-Term Safety and Efficacy of Factor IX Gene Therapy in Hemophilia B

(2014) Amit C. Nathwani et al.   NEW ENGLAND JOURNAL OF MEDICINE

High-throughput profiling of off-target DNA cleavage reveals RNA-programmed Cas9 nuclease specificity

(2013) Vikram Pattanayak et al.   NATURE BIOTECHNOLOGY

Transposition of native chromatin for fast and sensitive epigenomic profiling of open chromatin, DNA-binding proteins and nucleosome position

(2013) Jason D Buenrostro et al.   NATURE METHODS

Use of microarray hybrid capture and next-generation sequencing to identify the anatomy of a transgene

(2013) Amanda J. DuBose et al.   NUCLEIC ACIDS RESEARCH

Camera: a competitive gene set test accounting for inter-gene correlation

(2012) Di Wu et al.   NUCLEIC ACIDS RESEARCH

Clinical trial of a farnesyltransferase inhibitor in children with Hutchinson-Gilford progeria syndrome

(2012) L. B. Gordon et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Hepatic Gene Transfer in Neonatal Mice by Adeno-Associated Virus Serotype 8 Vector

(2011) Lili Wang et al.   HUMAN GENE THERAPY

Mechanisms of Premature Vascular Aging in Children With Hutchinson-Gilford Progeria Syndrome

(2011) Marie Gerhard-Herman et al.   HYPERTENSION

A framework for variation discovery and genotyping using next-generation DNA sequencing data

(2011) Mark A DePristo et al.   NATURE GENETICS

Splicing-Directed Therapy in a New Mouse Model of Human Accelerated Aging

(2011) F. G. Osorio et al.   Science Translational Medicine

Cardiovascular Pathology in Hutchinson-Gilford Progeria: Correlation With the Vascular Pathology of Aging

(2010) Michelle Olive et al.   ARTERIOSCLEROSIS THROMBOSIS AND VASCULAR BIOLOGY

BEDTools: a flexible suite of utilities for comparing genomic features

(2010) Aaron R. Quinlan et al.   BIOINFORMATICS

The Genome Analysis Toolkit: A MapReduce framework for analyzing next-generation DNA sequencing data

(2010) A. McKenna et al.   GENOME RESEARCH

ANNOVAR: functional annotation of genetic variants from high-throughput sequencing data

(2010) K. Wang et al.   NUCLEIC ACIDS RESEARCH

The Sequence Alignment/Map format and SAMtools

(2009) H. Li et al.   BIOINFORMATICS

Fast and accurate short read alignment with Burrows-Wheeler transform

(2009) H. Li et al.   BIOINFORMATICS

Analysis of AAV Serotypes 1–9 Mediated Gene Expression and Tropism in Mice After Systemic Injection

(2008) Carmela Zincarelli et al.   MOLECULAR THERAPY