Precise therapeutic gene correction by a simple nuclease-induced double-stranded break

Enhanced Cas12a editing in mammalian cells and zebrafish

(2019) Pengpeng Liu et al.   NUCLEIC ACIDS RESEARCH

Highly efficient therapeutic gene editing of human hematopoietic stem cells

(2019) Yuxuan Wu et al.   NATURE MEDICINE

Minimap2: pairwise alignment for nucleotide sequences

(2018) Heng Li   BIOINFORMATICS

Microhomology-assisted scarless genome editing in human iPSCs

(2018) Shin-Il Kim et al.   Nature Communications

Evolved Cas9 variants with broad PAM compatibility and high DNA specificity

(2018) Johnny H. Hu et al.   NATURE

Erratum: Repair of double-strand breaks induced by CRISPR–Cas9 leads to large deletions and complex rearrangements

(2018) Michael Kosicki et al.   NATURE BIOTECHNOLOGY

A Compact, High-Accuracy Cas9 with a Dinucleotide PAM for In Vivo Genome Editing

(2018) Alireza Edraki et al.   MOLECULAR CELL

Predictable and precise template-free CRISPR editing of pathogenic variants

(2018) Max W. Shen et al.   NATURE

Orthogonal Cas9–Cas9 chimeras provide a versatile platform for genome editing

(2018) Mehmet Fatih Bolukbasi et al.   Nature Communications

ClinVar: improving access to variant interpretations and supporting evidence

(2017) Melissa J Landrum et al.   NUCLEIC ACIDS RESEARCH

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

(2017) Eunji Kim et al.   Nature Communications

Hermansky-Pudlak Syndrome

(2016) Souheil El-Chemaly et al.   CLINICS IN CHEST MEDICINE

DNA Repair Profiling Reveals Nonrandom Outcomes at Cas9-Mediated Breaks

(2016) Megan van Overbeek et al.   MOLECULAR CELL

In vivo genome editing via CRISPR/Cas9 mediated homology-independent targeted integration

(2016) Keiichiro Suzuki et al.   NATURE

Analysis of protein-coding genetic variation in 60,706 humans

(2016) Monkol Lek et al.   NATURE

A Human Pluripotent Stem Cell Model of Facioscapulohumeral Muscular Dystrophy-Affected Skeletal Muscles

(2016) Leslie Caron et al.   Stem Cells Translational Medicine

Unified representation of genetic variants

(2015) Adrian Tan et al.   BIOINFORMATICS

Cpf1 Is a Single RNA-Guided Endonuclease of a Class 2 CRISPR-Cas System

(2015) Bernd Zetsche et al.   CELL

Engineered CRISPR-Cas9 nucleases with altered PAM specificities

(2015) Benjamin P. Kleinstiver et al.   NATURE

A global reference for human genetic variation

(2015) Richard A. Gibbs et al.   NATURE

DNA-binding-domain fusions enhance the targeting range and precision of Cas9

(2015) Mehmet Fatih Bolukbasi et al.   NATURE METHODS

MMEJ-assisted gene knock-in using TALENs and CRISPR-Cas9 with the PITCh systems

(2015) Tetsushi Sakuma et al.   Nature Protocols

Microhomology-Mediated End Joining: A Back-up Survival Mechanism or Dedicated Pathway?

(2015) Agnel Sfeir et al.   TRENDS IN BIOCHEMICAL SCIENCES

Homology and enzymatic requirements of microhomology-dependent alternative end joining

(2015) S Sharma et al.   Cell Death & Disease

Precise in-frame integration of exogenous DNA mediated by CRISPR/Cas9 system in zebrafish

(2015) Yu Hisano et al.   Scientific Reports

VariantAnnotation: a Bioconductor package for exploration and annotation of genetic variants

(2014) V. Obenchain et al.   BIOINFORMATICS

Microhomology-based choice of Cas9 nuclease target sites

(2014) Sangsu Bae et al.   NATURE METHODS

Easy quantitative assessment of genome editing by sequence trace decomposition

(2014) Eva K. Brinkman et al.   NUCLEIC ACIDS RESEARCH

PEAR: a fast and accurate Illumina Paired-End reAd mergeR

(2013) J. Zhang et al.   BIOINFORMATICS

Cas9 effector-mediated regulation of transcription and differentiation in human pluripotent stem cells

(2013) N. A. Kearns et al.   DEVELOPMENT

Exploring single-sample SNP and INDEL calling with whole-genome de novo assembly

(2012) H. Li   BIOINFORMATICS

VarScan 2: Somatic mutation and copy number alteration discovery in cancer by exome sequencing

(2012) D. C. Koboldt et al.   GENOME RESEARCH

Integrative genomics viewer

(2011) James T Robinson et al.   NATURE BIOTECHNOLOGY

Establishment of clonal myogenic cell lines from severely affected dystrophic muscles - CDK4 maintains the myogenic population

(2011) Guido Stadler et al.   Skeletal Muscle

Manipulation of FASTQ data with Galaxy

(2010) D. Blankenberg et al.   BIOINFORMATICS

The Sequence Alignment/Map format and SAMtools

(2009) H. Li et al.   BIOINFORMATICS

The titin-telethonin complex is a directed, superstable molecular bond in the muscle Z-disk

(2009) M. Bertz et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA