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

High-resolution targeted 3C interrogation of cis-regulatory element organization at genome-wide scale

(2021) Damien J. Downes et al.   Nature Communications

Transcription factor competition at the γ-globin promoters controls hemoglobin switching

(2021) Nan Liu et al.   NATURE GENETICS

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

(2021) Li Cheng et al.   NATURE GENETICS

S3norm: simultaneous normalization of sequencing depth and signal-to-noise ratio in epigenomic data

(2020) Guanjue Xiang et al.   NUCLEIC ACIDS RESEARCH

Editing a γ-globin repressor binding site restores fetal hemoglobin synthesis and corrects the sickle cell disease phenotype

(2020) Leslie Weber et al.   Science Advances

Methylation of a CGATA element inhibits binding and regulation by GATA-1

(2020) Lu Yang et al.   Nature Communications

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

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

A natural regulatory mutation in the proximal promoter elevates fetal globin expression by creating a de novo GATA1 site

(2019) Gabriella E. Martyn et al.   BLOOD

TALEN-Mediated Gene Editing of HBG in Human Hematopoietic Stem Cells Leads to Therapeutic Fetal Hemoglobin Induction

(2019) Christopher T. Lux et al.   Molecular Therapy-Methods & Clinical Development

Therapeutically relevant engraftment of a CRISPR-Cas9–edited HSC-enriched population with HbF reactivation in nonhuman primates

(2019) Olivier Humbert et al.   Science Translational Medicine

Structural insights into the recognition of γ-globin gene promoter by BCL11A

(2019) Yang Yang et al.   CELL RESEARCH

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

(2018) Nan Liu et al.   CELL

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

(2018) Luke W Koblan et al.   NATURE BIOTECHNOLOGY

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

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

High-resolution TADs reveal DNA sequences underlying genome organization in flies

(2018) Fidel Ramírez et al.   Nature Communications

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

(2018) Beeke Wienert et al.   TRENDS IN GENETICS

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

(2017) Nicole M. Gaudelli et al.   NATURE

Fetal haemoglobin in sickle-cell disease: from genetic epidemiology to new therapeutic strategies

(2016) Guillaume Lettre et al.   LANCET

A genome-editing strategy to treat β-hemoglobinopathies that recapitulates a mutation associated with a benign genetic condition

(2016) Elizabeth A Traxler et al.   NATURE MEDICINE

Transcription factors LRF and BCL11A independently repress expression of fetal hemoglobin

(2016) T. Masuda et al.   SCIENCE

Structure and function insights into the NuRD chromatin remodeling complex

(2015) Morgan P. Torchy et al.   CELLULAR AND MOLECULAR LIFE SCIENCES

DNA-dependent formation of transcription factor pairs alters their binding specificity

(2015) Arttu Jolma et al.   NATURE

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

(2015) Beeke Wienert et al.   Nature Communications

Skewer: a fast and accurate adapter trimmer for next-generation sequencing paired-end reads

(2014) Hongshan Jiang et al.   BMC BIOINFORMATICS

A 3D Map of the Human Genome at Kilobase Resolution Reveals Principles of Chromatin Looping

(2014) Suhas S.P. Rao et al.   CELL

deepTools: a flexible platform for exploring deep-sequencing data

(2014) Fidel Ramírez et al.   NUCLEIC ACIDS RESEARCH

Association of Variants at BCL11A and HBS1L-MYB with Hemoglobin F and Hospitalization Rates among Sickle Cell Patients in Cameroon

(2014) Ambroise Wonkam et al.   PLoS One

Interpreting elevated fetal hemoglobin in pathology and health at the basic laboratory level: new and known γ- gene mutations associated with hereditary persistence of fetal hemoglobin

(2013) A. Amato et al.   International Journal of Laboratory Hematology

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

Establishment of Immortalized Human Erythroid Progenitor Cell Lines Able to Produce Enucleated Red Blood Cells

(2013) Ryo Kurita et al.   PLoS One

Corepressor-dependent silencing of fetal hemoglobin expression by BCL11A

(2013) J. Xu et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Combinatorial Assembly of Developmental Stage-Specific Enhancers Controls Gene Expression Programs during Human Erythropoiesis

(2012) Jian Xu et al.   DEVELOPMENTAL CELL

ChIP-seq guidelines and practices of the ENCODE and modENCODE consortia

(2012) S. G. Landt et al.   GENOME RESEARCH

NF-Y Recruits Both Transcription Activator and Repressor to Modulate Tissue- and Developmental Stage-Specific Expression of Human γ-Globin Gene

(2012) Xingguo Zhu et al.   PLoS One

FIMO: scanning for occurrences of a given motif

(2011) Charles E. Grant et al.   BIOINFORMATICS

Fetal hemoglobin levels and morbidity in untransfused patients with  -thalassemia intermedia

(2011) K. M. Musallam et al.   BLOOD

BEDTools: a flexible suite of utilities for comparing genomic features

(2010) Aaron R. Quinlan et al.   BIOINFORMATICS

Accurate inference of transcription factor binding from DNA sequence and chromatin accessibility data

(2010) R. Pique-Regi et al.   GENOME RESEARCH

KLF1 regulates BCL11A expression and γ- to β-globin gene switching

(2010) Dewang Zhou et al.   NATURE GENETICS

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

Genome-wide association study shows BCL11A associated with persistent fetal hemoglobin and amelioration of the phenotype of  -thalassemia

(2008) M. Uda et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

DNA polymorphisms at the BCL11A, HBS1L-MYB, and  -globin loci associate with fetal hemoglobin levels and pain crises in sickle cell disease

(2008) G. Lettre et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

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

(2008) Vijay G. Sankaran et al.   SCIENCE

Model-based Analysis of ChIP-Seq (MACS)

(2008) Yong Zhang et al.   GENOME BIOLOGY