Massively parallel base editing to map variant effects in human hematopoiesis

Programmable A-to-Y base editing by fusing an adenine base editor with an N-methylpurine DNA glycosylase

(2023) Huawei Tong et al.   NATURE BIOTECHNOLOGY

Mapping transcriptomic vector fields of single cells

(2022) Xiaojie Qiu et al.   CELL

Massively parallel phenotyping of coding variants in cancer with Perturb-seq

(2022) Oana Ursu et al.   NATURE BIOTECHNOLOGY

Base editing sensor libraries for high-throughput engineering and functional analysis of cancer-associated single nucleotide variants

(2022) Francisco J. Sánchez-Rivera et al.   NATURE BIOTECHNOLOGY

Identification of novel HPFH-like mutations by CRISPR base editing that elevate the expression of fetal hemoglobin

(2022) Nithin Sam Ravi et al.   eLife

The Challenge of Genetic Variants of Uncertain Clinical Significance

(2022) Wylie Burke et al.   ANNALS OF INTERNAL MEDICINE

Inherited bone marrow failure in the pediatric patient

(2022) Inderjeet Dokal et al.   BLOOD

Congenital anemia reveals distinct targeting mechanisms for master transcription factor GATA1

(2022) Leif S. Ludwig et al.   BLOOD

Efficient C-to-G Base Editing with Improved Target Compatibility Using Engineered Deaminase–nCas9 Fusions

(2022) Siyu Chen et al.   CRISPR Journal

Human Inborn Errors of Immunity: 2022 Update on the Classification from the International Union of Immunological Societies Expert Committee

(2022) Stuart G. Tangye et al.   JOURNAL OF CLINICAL IMMUNOLOGY

Variant to function mapping at single-cell resolution through network propagation

(2022) Fulong Yu et al.   NATURE BIOTECHNOLOGY

Systematic discovery and perturbation of regulatory genes in human T cells reveals the architecture of immune networks

(2022) Jacob W. Freimer et al.   NATURE GENETICS

Ensuring a future for gene therapy for rare diseases

(2022) Alessandro Aiuti et al.   NATURE MEDICINE

Ultra-deep sequencing validates safety of CRISPR/Cas9 genome editing in human hematopoietic stem and progenitor cells

(2022) M. Kyle Cromer et al.   Nature Communications

Frequency and mechanisms of LINE-1 retrotransposon insertions at CRISPR/Cas9 sites

(2022) Jianli Tao et al.   Nature Communications

High-throughput continuous evolution of compact Cas9 variants targeting single-nucleotide-pyrimidine PAMs

(2022) Tony P. Huang et al.   NATURE BIOTECHNOLOGY

Single-cell multi-omics of human clonal hematopoiesis reveals that DNMT3A R882 mutations perturb early progenitor states through selective hypomethylation

(2022) Anna S. Nam et al.   NATURE GENETICS

Base-editing-mediated dissection of a γ-globin cis-regulatory element for the therapeutic reactivation of fetal hemoglobin expression

(2022) Panagiotis Antoniou et al.   Nature Communications

A Novel GATA1 Variant in the C-Terminal Zinc Finger Compared with the Platelet Phenotype of Patients with A Likely Pathogenic Variant in the N-Terminal Zinc Finger

(2022) José M. Bastida et al.   Cells

A genetic disorder reveals a hematopoietic stem cell regulatory network co-opted in leukemia

(2022) Richard A. Voit et al.   NATURE IMMUNOLOGY

Massively parallel assessment of human variants with base editor screens

(2021) Ruth E. Hanna et al.   CELL

Functional interrogation of DNA damage response variants with base editing screens

(2021) Raquel Cuella-Martin et al.   CELL

Characterizing the molecular regulation of inhibitory immune checkpoints with multimodal single-cell screens

(2021) Efthymia Papalexi et al.   NATURE GENETICS

Genome-wide programmable transcriptional memory by CRISPR-based epigenome editing

(2021) James K. Nuñez et al.   CELL

Deciphering transcriptional and functional heterogeneity in hematopoiesis with single-cell genomics

(2021) Jorge D. Martin-Rufino et al.   CURRENT OPINION IN HEMATOLOGY

CRISPR prime editing with ribonucleoprotein complexes in zebrafish and primary human cells

(2021) Karl Petri et al.   NATURE BIOTECHNOLOGY

Chromothripsis as an on-target consequence of CRISPR–Cas9 genome editing

(2021) Mitchell L. Leibowitz et al.   NATURE GENETICS

Single-nucleotide-level mapping of DNA regulatory elements that control fetal hemoglobin expression

(2021) Li Cheng et al.   NATURE GENETICS

CRISPR-Cas9 cytidine and adenosine base editing of splice-sites mediates highly-efficient disruption of proteins in primary and immortalized cells

(2021) Mitchell G. Kluesner et al.   Nature Communications

An in vitro platform supports generation of human innate lymphoid cells from CD34+ hematopoietic progenitors that recapitulate ex vivo identity

(2021) Daniela Carolina Hernández et al.   IMMUNITY

Base editing of haematopoietic stem cells rescues sickle cell disease in mice

(2021) Gregory A. Newby et al.   NATURE

Genome-wide interrogation of gene functions through base editor screens empowered by barcoded sgRNAs

(2021) Ping Xu et al.   NATURE BIOTECHNOLOGY

Efficient C•G-to-G•C base editors developed using CRISPRi screens, target-library analysis, and machine learning

(2021) Luke W. Koblan et al.   NATURE BIOTECHNOLOGY

Activation of γ-globin gene expression by GATA1 and NF-Y in hereditary persistence of fetal hemoglobin

(2021) Phillip A. Doerfler et al.   NATURE GENETICS

Mapping the cellular origin and early evolution of leukemia in Down syndrome

(2021) Elvin Wagenblast et al.   SCIENCE

A unified model of human hemoglobin switching through single-cell genome editing

(2021) Yong Shen et al.   Nature Communications

Germline GATA1s generating mutations predispose to leukemia with acquired trisomy 21 and Down syndrome-like phenotype

(2021) Henrik Hasle et al.   BLOOD

A brief history of human disease genetics

(2020) Melina Claussnitzer et al.   NATURE

Combinatorial single-cell CRISPR screens by direct guide RNA capture and targeted sequencing

(2020) Joseph M. Replogle 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

Unconstrained genome targeting with near-PAMless engineered CRISPR-Cas9 variants

(2020) Russell T. Walton et al.   SCIENCE

CRISPR C-to-G base editors for inducing targeted DNA transversions in human cells

(2020) Ibrahim C. Kurt et al.   NATURE BIOTECHNOLOGY

Glycosylase base editors enable C-to-A and C-to-G base changes

(2020) Dongdong Zhao et al.   NATURE BIOTECHNOLOGY

In The Blood: Connecting Variant to Function In Human Hematopoiesis

(2020) Satish K. Nandakumar et al.   TRENDS IN GENETICS

Latest Developed Strategies to Minimize the Off-Target Effects in CRISPR-Cas-Mediated Genome Editing

(2020) Muhammad Naeem et al.   Cells

CRISPR Gene Therapy: Applications, Limitations, and Implications for the Future

(2020) Fathema Uddin et al.   Frontiers in Oncology

Trans-ethnic and Ancestry-Specific Blood-Cell Genetics in 746,667 Individuals from 5 Global Populations

(2020) Ming-Huei Chen et al.   CELL

The Polygenic and Monogenic Basis of Blood Traits and Diseases

(2020) Dragana Vuckovic et al.   CELL

Unraveling Hematopoiesis through the Lens of Genomics

(2020) L. Alexander Liggett et al.   CELL

Post-Transcriptional Genetic Silencing of BCL11A to Treat Sickle Cell Disease

(2020) Erica B. Esrick et al.   NEW ENGLAND JOURNAL OF MEDICINE

CRISPR-Cas9 Gene Editing for Sickle Cell Disease and β-Thalassemia

(2020) Haydar Frangoul et al.   NEW ENGLAND JOURNAL OF MEDICINE

Combined lentiviral- and RNA-mediated CRISPR/Cas9 delivery for efficient and traceable gene editing in human hematopoietic stem and progenitor cells

(2020) David Yudovich et al.   Scientific Reports

Genetic engineering of hematopoiesis: current stage of clinical translation and future perspectives

(2019) Luigi Naldini   EMBO Molecular Medicine

CRISPR-Cas9 genome editing induces megabase-scale chromosomal truncations

(2019) Grégoire Cullot et al.   Nature Communications

CRISPResso2 provides accurate and rapid genome editing sequence analysis

(2019) Kendell Clement et al.   NATURE BIOTECHNOLOGY

Unravelling Intratumoral Heterogeneity through High-Sensitivity Single-Cell Mutational Analysis and Parallel RNA Sequencing

(2019) Alba Rodriguez-Meira et al.   MOLECULAR CELL

Precise Gene Editing Preserves Hematopoietic Stem Cell Function following Transient p53-Mediated DNA Damage Response

(2019) Giulia Schiroli et al.   Cell Stem Cell

Gene-edited stem cells enable CD33-directed immune therapy for myeloid malignancies

(2019) Florence Borot et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Gene-centric functional dissection of human genetic variation uncovers regulators of hematopoiesis

(2019) Satish K Nandakumar et al.   eLife

Continuous evolution of base editors with expanded target compatibility and improved activity

(2019) Benjamin W. Thuronyi et al.   NATURE BIOTECHNOLOGY

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

(2019) Andrew V. Anzalone et al.   NATURE

Ribosome Levels Selectively Regulate Translation and Lineage Commitment in Human Hematopoiesis

(2018) Rajiv K. Khajuria et al.   CELL

Direct Promoter Repression by BCL11A Controls the Fetal to Adult Hemoglobin Switch

(2018) Nan Liu et al.   CELL

Genetic Inactivation of CD33 in Hematopoietic Stem Cells to Enable CAR T Cell Immunotherapy for Acute Myeloid Leukemia

(2018) Miriam Y. Kim et al.   CELL

Natural regulatory mutations elevate the fetal globin gene via disruption of BCL11A or ZBTB7A binding

(2018) Gabriella E. Martyn et al.   NATURE GENETICS

On the design of CRISPR-based single-cell molecular screens

(2018) Andrew J Hill et al.   NATURE METHODS

From genome-wide associations to candidate causal variants by statistical fine-mapping

(2018) Daniel J. Schaid et al.   NATURE REVIEWS GENETICS

Engineered CRISPR-Cas9 nuclease with expanded targeting space

(2018) Hiroshi Nishimasu et al.   SCIENCE

Genome-wide CRISPR Screens in Primary Human T Cells Reveal Key Regulators of Immune Function

(2018) Eric Shifrut et al.   CELL

Engineering resistance to CD33-targeted immunotherapy in normal hematopoiesis by CRISPR/Cas9-deletion of CD33 exon 2

(2018) Olivier Humbert et al.   LEUKEMIA

Optimization of CRISPR/Cas9 Delivery to Human Hematopoietic Stem and Progenitor Cells for Therapeutic Genomic Rearrangements

(2018) Annalisa Lattanzi et al.   MOLECULAR THERAPY

Guide Swap enables genome-scale pooled CRISPR–Cas9 screening in human primary cells

(2018) Pamela Y. Ting et al.   NATURE METHODS

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

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

Wake-up Sleepy Gene: Reactivating Fetal Globin for β-Hemoglobinopathies

(2018) Beeke Wienert et al.   TRENDS IN GENETICS

Optimized libraries for CRISPR-Cas9 genetic screens with multiple modalities

(2018) Kendall R. Sanson et al.   Nature Communications

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

(2017) Nicole M. Gaudelli et al.   NATURE

Generation of mature T cells from human hematopoietic stem and progenitor cells in artificial thymic organoids

(2017) Christopher S Seet et al.   NATURE METHODS

Pooled CRISPR screening with single-cell transcriptome readout

(2017) Paul Datlinger et al.   NATURE METHODS

Salmon provides fast and bias-aware quantification of transcript expression

(2017) Rob Patro et al.   NATURE METHODS

A distinct hematopoietic stem cell population for rapid multilineage engraftment in nonhuman primates

(2017) Stefan Radtke et al.   Science Translational Medicine

Inheritable Silencing of Endogenous Genes by Hit-and-Run Targeted Epigenetic Editing

(2016) Angelo Amabile et al.   CELL

Dissecting Immune Circuits by Linking CRISPR-Pooled Screens with Single-Cell RNA-Seq

(2016) Diego Adhemar Jaitin et al.   CELL

Perturb-Seq: Dissecting Molecular Circuits with Scalable Single-Cell RNA Profiling of Pooled Genetic Screens

(2016) Atray Dixit et al.   CELL

A Multiplexed Single-Cell CRISPR Screening Platform Enables Systematic Dissection of the Unfolded Protein Response

(2016) Britt Adamson et al.   CELL

Targeted Application of Human Genetic Variation Can Improve Red Blood Cell Production from Stem Cells

(2016) Felix C. Giani et al.   Cell Stem Cell

564. The Cytotoxic Effect of RNA-Guided Endonuclease Cas9 on Human Hematopoietic Stem and Progenitor Cells (HSPCs)

(2016) Kyung-Rok Yu 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

Comprehensive population-based genome sequencing provides insight into hematopoietic regulatory mechanisms

(2016) Michael H. Guo et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Restricted dendritic cell and monocyte progenitors in human cord blood and bone marrow

(2015) Jaeyop Lee et al.   JOURNAL OF EXPERIMENTAL MEDICINE

ClinVar: public archive of interpretations of clinically relevant variants

(2015) Melissa J. Landrum et al.   NUCLEIC ACIDS RESEARCH

Editing the genome to introduce a beneficial naturally occurring mutation associated with increased fetal globin

(2015) Beeke Wienert et al.   Nature Communications

Nonirradiated NOD,B6.SCID Il2rγ−/− KitW41/W41 (NBSGW) Mice Support Multilineage Engraftment of Human Hematopoietic Cells

(2015) Brian E. McIntosh et al.   Stem Cell Reports

Cas-OFFinder: a fast and versatile algorithm that searches for potential off-target sites of Cas9 RNA-guided endonucleases

(2014) S. Bae et al.   BIOINFORMATICS

Improved vectors and genome-wide libraries for CRISPR screening

(2014) Neville E Sanjana et al.   NATURE METHODS

Altered Chromatin Occupancy of Master Regulators Underlies Evolutionary Divergence in the Transcriptional Landscape of Erythroid Differentiation

(2014) Jacob C. Ulirsch et al.   PLoS Genetics

ClinVar: public archive of relationships among sequence variation and human phenotype

(2013) Melissa J. Landrum et al.   NUCLEIC ACIDS RESEARCH

The Switch from Fetal to Adult Hemoglobin

(2013) V. G. Sankaran et al.   Cold Spring Harbor Perspectives in Medicine

Primer-BLAST: A tool to design target-specific primers for polymerase chain reaction

(2012) Jian Ye et al.   BMC BIOINFORMATICS

Exome sequencing identifies GATA1 mutations resulting in Diamond-Blackfan anemia

(2012) Vijay G. Sankaran et al.   JOURNAL OF CLINICAL INVESTIGATION

Engineering human hematopoietic stem/progenitor cells to produce a broadly neutralizing anti-HIV antibody after in vitro maturation to human B lymphocytes.

(2008) X. M. Luo et al.   BLOOD

Human Fetal Hemoglobin Expression Is Regulated by the Developmental Stage-Specific RepressorBCL11A

(2008) Vijay G. Sankaran et al.   SCIENCE