An Erythroid Enhancer of BCL11A Subject to Genetic Variation Determines Fetal Hemoglobin Level

PLINK: a tool set for whole-genome association and population-based linkage analyses.

Purcell, S., Neale, B., Todd-Brown, K., Thomas, L., Ferreira, M. A. R., Bender, D., Maller, J., Sklar, P., de Bakker, P. I. W., Daly, M. J., et al. (2007) · The American Journal of Human Genetics · doi:10.1086/519795 · Cited by 34,089

An integrated encyclopedia of DNA elements in the human genome

The ENCODE Project Consortium (2012) · Nature · doi:10.1038/nature11247 · Cited by 18,072

Systematic Localization of Common Disease-Associated Variation in Regulatory DNA

Maurano, M. T., Humbert, R., Rynes, E., Thurman, R. E., Haugen, E., Wang, H., Reynolds, A. P., Sandstrom, R., Qu, H., Brody, J., et al. (2012) · Science · doi:10.1126/science.1222794 · Cited by 3,716

Mapping and analysis of chromatin state dynamics in nine human cell types

Ernst, J., Kheradpour, P., Mikkelsen, T. S., Shoresh, N., Ward, L. D., Epstein, C. B., Zhang, X., Wang, L., Issner, R., Coyne, M., et al. (2011) · Nature · doi:10.1038/nature09906 · Cited by 2,898

The accessible chromatin landscape of the human genome

Thurman, R. E., Rynes, E., Humbert, R., Vierstra, J., Maurano, M. T., Haugen, E., Sheffield, N. C., Stergachis, A. B., Wang, H., Vernot, B., et al. (2012) · Nature · doi:10.1038/nature11232 · Cited by 2,679

Rare-Variant Association Testing for Sequencing Data with the Sequence Kernel Association Test

Wu, M. C., Lee, S., Cai, T., Li, Y., Boehnke, M., & Lin, X. (2011) · The American Journal of Human Genetics · doi:10.1016/j.ajhg.2011.05.029 · Cited by 2,373

Genome editing with engineered zinc finger nucleases

Urnov, F. D., Rebar, E. J., Holmes, M. C., Zhang, H. S., & Gregory, P. D. (2010) · Nature Reviews Genetics · doi:10.1038/nrg2842 · Cited by 2,285

A TALE nuclease architecture for efficient genome editing

Miller, J. C., Tan, S., Qiao, G., Barlow, K. A., Wang, J., Xia, D. F., Meng, X., Paschon, D. E., Leung, E., Hinkley, S. J., et al. (2011) · Nature Biotechnology · doi:10.1038/nbt.1755 · Cited by 2,098

Efficient design and assembly of custom TALEN and other TAL effector-based constructs for DNA targeting

Čermák, T., Doyle, E., Christian, M. L., Wang, L., Zhang, Y., Schmidt, C. L., Baller, J. A., Somia, N. V., Bogdanove, A. J., & Voytas, D. F. (2011) · Nucleic Acids Research · doi:10.1093/nar/gkr218 · Cited by 2,034

TALENs: A widely applicable technology for targeted genome editing

Joung, J. K., & Sander, J. D. (2013) · Nature Reviews Molecular Cell Biology · doi:10.1038/nrm3486 · Cited by 1,650

Multi-Locus Models to Address Hb F Variability in Portuguese β-Thalassemia Carriers

Manco, L., Bento, C., Relvas, L., Cunha, E., Pereira, J., Moreira, V., Álvarez, M., Maia, T. M., & Ribeiro, M. L. (2020) · Hemoglobin · doi:10.1080/03630269.2020.1753766 · Cited by 3

MMCT-Loop: a mix model-based pipeline for calling targeted 3D chromatin loops

Tang, L., Liao, J., Hill, M., Hu, J., Zhao, Y.-C., Ellinor, P., & Li, M. (2024) · Nucleic Acids Research · doi:10.1093/nar/gkae029 · Cited by 3

DNA regulatory element cooperation and competition in transcription

Lee, H., Friedman, M. J., Kim, S. B., & Oh, S. (2024) · BMB Reports · doi:10.5483/bmbrep.2024-0069 · Cited by 4

Role of B-Cell Lymphoma/Leukemia 11A in Normal and Malignant Hematopoiesis

Zhang, H., Zeng, J., Zhang, F., Liu, J., & Liang, L. (2025) · Biology · doi:10.3390/biology14010026 · Cited by 4

Exome sequencing in high and low fetal haemoglobin Arab–Indian haplotype sickle cell disease

Al-Nafie, A. N., Al-Ateeq, S., Al‐Muhanna, F., Alsulaiman, A. M., Alfarhan, M. F. A., Buali, W., Vatte, C., Cyrus, C., Keating, B. J., Al‐Ali, A. K., et al. (2021) · British Journal of Haematology · doi:10.1111/bjh.17542 · Cited by 3

Human genome editing as a tool to establish causality

Urnov, F. D. (2014) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.1322645111 · Cited by 3

B2M gene knockout in HEK293T cells by non-viral delivery of CRISPR-Cas9 system for the generation of universal cells

Ranjbar, M., Amiri, F., Nourigorji, M., Torabizadeh, F., Dara, M., & Dianatpour, M. (2022) · Egyptian Journal of Medical Human Genetics · doi:10.1186/s43042-022-00267-z · Cited by 3

Learning about mammalian gene regulation from functional enhancer assays in the mouse

Nord, A. S. (2015) · Genomics · doi:10.1016/j.ygeno.2015.06.008 · Cited by 3

Disruption of the TFAP2A Regulatory Domain Causes Banchio-Oculo-Facial Syndrome (BOFS) and Illuminates Pathomechanisms for Other Human NeurocristopathiesPreprint

Laugsch, M., Bartusel, M., Alirzayeva, H., Karaolidou, A., Rehimi, R., Crispatzu, G., Nikolić, M., Bleckwehl, T., Kolovos, P., van IJcken, W. F. J., et al. (2018) · SSRN Electronic Journal · doi:10.2139/ssrn.3155617 · Cited by 3

ATF4 mediates fetal globin upregulation in response to reduced β-globinPreprint

Boontanrart, M. Y., Stehli, G., Banović, M., Schröder, M., Wyman, S. K., Lew, R., Bordi, M., Gowen, B. G., DeWitt, M. A., & Corn, J. E. (2020) · bioRxiv (Cold Spring Harbor Laboratory) · doi:10.1101/2020.01.15.905943 · Cited by 3

Interspecies regulatory landscapes and elements revealed by novel joint systematic integration of human and mouse blood cell epigenomesPreprint

Xiang, G., He, X., Giardine, B. M., Isaac, K. J., Taylor, D. J., McCoy, R. C., Jansen, C. S., Keller, C. A., Wixom, A. Q., Cockburn, A., et al. (2023) · bioRxiv (Cold Spring Harbor Laboratory) · doi:10.1101/2023.04.02.535219 · Cited by 3

Scalable assessment of genome editing off-targets associated with genetic variantsPreprint

Lin, J., Nguyen, M. A., Lin, L. Y., Zeng, J., Verma, A., Neri, N. R., da Silva, L. F., Mucci, A., Wolfe, S. A., Shaw, K. L., et al. (2024) · bioRxiv (Cold Spring Harbor Laboratory) · doi:10.1101/2024.07.24.605019 · Cited by 3

In vivo dissection of the mouse tyrosine catabolic pathway with CRISPR-Cas9 identifies modifier genes affecting hereditary tyrosinemia type 1

Rivest, J.-F., Carter, S., Goupil, C., Antérieux, P., Cyr, D., Ung, R., Soglio, D. B. D., Mac‐Way, F., Waters, P. J., Paganelli, M., et al. (2024) · Genetics · doi:10.1093/genetics/iyae139 · Cited by 3

MYB represses ζ-globin expression through upregulating ETO2

Dong, Z., Ye, Y., Zhang, W., Luo, H., Li, J., Zhang, Q., Zhang, X., Guo, X., & Xu, X. (2024) · Acta Biochimica et Biophysica Sinica · doi:10.3724/abbs.2024239 · Cited by 2

Gene therapy for hemoglobinopathies: Clinical trial results and biology of hematopoietic stem cell and the bone marrow niche

Aprile, A., Lidonnici, M. R., & Ferrari, G. (2025) · Cell Reports Medicine · doi:10.1016/j.xcrm.2025.102419 · Cited by 2

Engineered ADARs enable precision A-to-G base editing of DNA

Im, H. W., Jeong, B., Lee, Y., Oh, Y. E., Jung, C., Kim, Y. W., Kim, D. Y., Lee, S., Uhm, H., Kim, Y., et al. (2026) · Nature Biotechnology · doi:10.1038/s41587-026-03223-z · Cited by 3

Common fetal hemoglobin variants in Lebanese patients bearing the codon 29 beta gene mutation associated with different thalassemia phenotypes

Brancaleoni, V., Moukhadder, H. M., Consonni, D., Koussa, S., Pierro, E. D., Cappellini, M. D., & Taher, A. T. (2018) · Annals of Hematology · doi:10.1007/s00277-018-3567-3 · Cited by 3

Genome Editing and Hematologic Malignancy

Emmer, B. T., & Ginsburg, D. (2019) · Annual Review of Medicine · doi:10.1146/annurev-med-052318-100741 · Cited by 2

BCL11A Polymorphism in Egyptian Children with β-Thalassemia: Relation to Phenotypic Heterogeneity

Salah, N. Y., Ali, H. G. A., Bassiouny, N., Salem, L. E. M. A., Taha, S., Youssef, M. K., Annaka, L., & Barakat, N. M. (2021) · Journal of Pediatric Genetics · doi:10.1055/s-0041-1728744 · Cited by 3

Recent advances of CRISPR/Cas9 gene editing in the treatment of β-thalassemia

Xie, Q., Lei, S.-Y., Qu, C., Wu, H., Liu, Y., Huang, P., & Teng, S. (2022) · Chinese Science Bulletin (Chinese Version) · doi:10.1360/tb-2022-0109 · Cited by 2

From genome-wide association study hits to new insights into experimental hematology

Cvejic, A. (2014) · Experimental Hematology · doi:10.1016/j.exphem.2014.04.005 · Cited by 2

Gene Therapy for Hemoglobinopathies

Dong, A., Breda, L., & Rivella, S. (2015) · Elsevier eBooks · doi:10.1016/b978-0-12-800563-7.00012-9 · Cited by 3

Structural and functional analysis of somatic coding and UTR indels in breast and lung cancer genomes

Chen, J., & Guo, J. (2021) · Scientific Reports · doi:10.1038/s41598-021-00583-1 · Cited by 2

THE CORRELATION BETWEEN L-CARNITINE UPTAKE AND SOME HEMATOLOGICAL PARAMETERS IN OXIDATIVE STRESSED RATS

Aghaa, O. B., & Hamad, H. T. (2022) · Military Medical Science Letters · doi:10.31482/mmsl.2022.007 · Cited by 2

The Novel Role of the B-Cell Lymphoma/Leukemia 11A (BCL11A) Gene in β-Thalassaemia Treatment

Lai, M. I., & Ahmed, N. H. M. (2022) · Cardiovascular & Haematological Disorders - Drug Targets · doi:10.2174/1871529x23666230123140926 · Cited by 3

A Review of CRISPR Cas9 for SCA: Treatment Strategies and Could Target β-globin Gene and BCL11A Gene using CRISPR Cas9 Prevent the Patient from Sickle Cell Anemia?

Suwito, B. E., Adji, A. S., Widjaja, J. S., Angel, S. C. S., Hajiri, A. Z. Z. A., Salamy, N. F. W., & Choirotussanijjah, C. (2023) · Open Access Macedonian Journal of Medical Sciences · doi:10.3889/oamjms.2023.11435 · Cited by 3

Applications of CRISPRi and CRISPRa in Drug Discovery

Gilbert, L. A. (2022) · Wiley eBooks · doi:10.1002/9781119671404.ch10 · Cited by 2

Genome editing coming of age for hemoglobinopathy

Jiang, H. (2023) · Molecular Therapy · doi:10.1016/j.ymthe.2023.02.007 · Cited by 2

Expansion of human hematopoietic stem cells by inhibiting translationPreprint

Li, C., Shin, H., Bhavanasi, D., Liu, M., Yu, X., Liu, X., Herbst, F., Alameh, M.-G., Breda, L., Kovuru, N., et al. (2023) · bioRxiv (Cold Spring Harbor Laboratory) · doi:10.1101/2023.11.28.568925 · Cited by 3

Trans -eQTL mapping prioritises USP18 as a negative regulator of interferon response at a lupus risk locusPreprint

Freimann, K., Brümmer, A., Warmerdam, R., Rupall, T. S., Hernández-Ledesma, A. L., Chiou, J., Holzinger, E. R., Maranville, J., Nakić, N., Ongen, H., et al. (2024) · medRxiv · doi:10.1101/2024.07.15.24310442 · Cited by 2

The Impact of BCL11A Polymorphisms on Endometrial Cancer Risk Among Chinese Han Females

Cai, J., Peng, S., Wang, H., & Bao, S. (2022) · Pharmacogenomics and Personalized Medicine · doi:10.2147/pgpm.s345772 · Cited by 1

Dias-Logan syndrome with a de novo p.Leu360Profs*212 heterozygous pathogenic variant of BCL11A in a Chinese patient: A case report

Shu, Y., Chen, X., Wei, Z., & Chen, C.-Y. (2025) · SAGE Open Medical Case Reports · doi:10.1177/2050313x251314069 · Cited by 1

Une approche CRISPR/Cas pour traiter les β-hémoglobinopathies

Brusson, M., & Miccio, A. (2025) · médecine/sciences · doi:10.1051/medsci/2024191 · Cited by 2

Fetal hemoglobin enables malaria parasite growth in sickle cells but augments production of transmission stage parasites

Lavazec, C., Loucoubar, C., Dupuy, F., Bureau, J., Casadémont, I., Gonçalves, B. P., Thein, S. L., Lathrop, M. G., Laurance, S., Roussel, C., et al. (2025) · PLoS ONE · doi:10.1371/journal.pone.0325797 · Cited by 1

Cellular and molecular targets in β-Thalassemia: advances in iron Regulation, Erythropoiesis, and Gene-Based therapies

Shan, X., Li, Q., Wang, M., Niu, Y., Sun, Z., Ma, X., Wang, T., Tong, X., Zhang, J., & Niu, D. (2025) · Functional & Integrative Genomics · doi:10.1007/s10142-025-01756-1 · Cited by 1

Fetal Hemoglobin Research and Clinical Relevance in Sickle Cell Disease

Gudmundsdóttir, B. K., & Tisdale, J. F. (2025) · Physiology · doi:10.1152/physiol.00024.2025 · Cited by 1

An intergenic silencer region regulates HBG expression

Zhu, X., Liu, L., Li, Y., Takezaki, M., Bombin, S., Yu, A., Pendergast, M. A., Sheehan, V., Kuppers, D. A., Bleris, L. G., et al. (2026) · Blood Red Cells & Iron · doi:10.1016/j.brci.2026.100046 · Cited by 1

HbF-inducing gene therapies for the β-hemoglobinopathies: implications for future pregnancies

Gavillet, M., Legardeur, H., Adam, C. J. M., Renella, R., Dashraath, P., & Baud, D. (2026) · Blood Red Cells & Iron · doi:10.1016/j.brci.2026.100047 · Cited by 2

miRNA-Mediated Regulation of γ-Globin to β-Globin Switching: Therapeutic Potential in β-Hemoglobinopathies

Alotaibi, D., Aldagdog, F., Alramadhan, S. I., Almuhaidib, B., Asiri, N., Almodhi, L., Alshabaan, M., Alborhan, R., Vatte, C., Mohiuddin, S. S., et al. (2026) · International Journal of Molecular Sciences · doi:10.3390/ijms27031203 · Cited by 2

Mapping disease loci to biological processes via joint pleiotropic and epigenomic partitioning

Kerner, G., Kamitaki, N., Strober, B. J., & Price, A. L. (2026) · Cell Genomics · doi:10.1016/j.xgen.2025.101138 · Cited by 3

Therapeutic Gene Editing: DNA Repair Pathways, Emerging Editors, and Clinical Progress

Tsai, L., Xiong, Y., Liu, D., Yang, D., Zhang, J., Xu, J., Han, R., & Chen, Y. (2026) · iNew Medicine · doi:10.1002/inm3.70018 · Cited by 1

Mapping the genetic landscape of suicide risk: Insights from genomic SEM

Yao, K., Zhuo, C., Chen, X., Li, C., Song, H., Zou, J., & Tian, H. (2026) · Neurotherapeutics · doi:10.1016/j.neurot.2026.e00852 · Cited by 1

Nucleotide-resolution mapping of regulatory elements via allelic readout of tiled base editing

Becerra, B., Wittibschlager, S., Patel, Z. M., Kutschat, A. P., Delano, J., Che, E., Tauber, A., Wu, T., Starrs, M. M., Horstmann, C. S., et al. (2026) · Nature Communications · doi:10.1038/s41467-026-69918-8 · Cited by 1

Natural History of Chronic Kidney Disease in Sickle Cell Disease

Ataga, K. I. (2026) · American Journal of Hematology · doi:10.1002/ajh.70300 · Cited by 1

Beyond chemotherapy: The rise of nucleic acid nanoformulations in personalized lung cancer therapy

Hermain, S., Harshitha, K. S., & Naveen, N. R. (2026) · Cancer Pathogenesis and Therapy · doi:10.1016/j.cpt.2026.04.002 · Cited by 2

Unlocking the curative potential of gene transfer and editing for hematopoietic disorders

Shiroshita, K., Stolz, A., Malouf, C., Tran, V. L., Li, J., Weiss, M. J., & Naldini, L. (2026) · Experimental Hematology · doi:10.1016/j.exphem.2026.105493 · Cited by 1

Reactivation of Fetal Hemoglobin in Thalassemia and Sickle Cell Disease

Eridani, S., Avemaria, F., & Mosca, A. (2014) · Thalassemia Reports · doi:10.4081/thal.2014.2196 · Cited by 1

Top Advances in Functional Genomics and Translational Biology for 2013

Pilbrow, A. P., Arora, P. K., Martinez‐Fernandez, A., Ali, Z. A., Arora, P. K., Chiao, Y. A., Desai, A. A., Gupta, R., Martinez‐Fernandez, A., Perez, M. V., et al. (2014) · Circulation Cardiovascular Genetics · doi:10.1161/circgenetics.114.000521 · Cited by 1

Fetal Hemoglobin Modulators May Be Associated With Symptomology of Football Players with Sickle Cell Trait

Flansburg, C. N., Balentine, C. M., Grieger, R. W., Lund, J., Ciambella, M., White, D., Coris, E. E., Gonzalez, E. C., Stone, A. C., & Madrigal, L. (2019) · Southern Medical Journal · doi:10.14423/smj.0000000000000976 · Cited by 1

Sickle cell disease phenotype. Relationship of haplotypes and polymorphisms in the β cluster, BCL11A and HBS1L-MYB. Pilot study

Ropero, P., Peral, M., Sánchez-Martínez, L. J., Rochas, S., Gómez-Álvarez, M., Nieto, J. M., González, F. A., Villegas, A., & Benavente, C. (2023) · ANALES RANM · doi:10.32440/ar.2022.139.03.rev09 · Cited by 1

The interaction between enhancer variants and environmental factors as an overlooked aetiological paradigm in human complex disease

Robert, S. M., & Rada-Iglesias, Á. (2023) · BioEssays · doi:10.1002/bies.202300038 · Cited by 1

Gene Editing in Hematopoietic Stem Cells

Liao, J., & Wu, Y. (2023) · Advances in experimental medicine and biology · doi:10.1007/978-981-99-7471-9_11 · Cited by 2

Genetic Polymorphisms at BcL11A Sites rs10184550 and rs7599488 in Sudanese Sickle Cell Patients

Mustafa, A., Hassan, F. M., Abdelgadir, A., Yousif, M., Elbager, S. G., & Gaffer, A. (2024) · Biomedical & Pharmacology Journal · doi:10.13005/bpj/2881 · Cited by 1

Regulatory landscape enrichment analysis (RLEA): a computational toolkit for non-coding variant enrichment and cell type prioritization

Rosean, S., Sosa, E., O’Shea, D., Raj, S. M., Seoighe, C., & Greally, J. M. (2024) · BMC Bioinformatics · doi:10.1186/s12859-024-05794-7 · Cited by 1

Mechanistic and Biological Perspectives on Erythropoiesis

Bresnick, E. H., Papayannopoulou, T., & Migliaccio, A. R. (2024) · Experimental Hematology · doi:10.1016/j.exphem.2024.104286 · Cited by 1

Hotspots and status of Fetal Alpha-Thalassemia from 2009 to 2023: a bibliometric analysis

Li, Q., Li, X., he, S. T., & Li, J. (2024) · Frontiers in Pediatrics · doi:10.3389/fped.2024.1467760 · Cited by 1

Mutation in a Highly Conserved COOH-Terminal Residue ofKrüppel-Like Factor 1Associated with Elevated Hb F in a Compound Heterozygous β-Thalassemia Patient with a Nontransfusion-Dependent Thalassemia Phenotype

Gallagher, P. G., Maksimova, Y. D., Schulz, V., & Forget, B. G. (2016) · Hemoglobin · doi:10.1080/03630269.2016.1214921 · Cited by 1

Gentherapie von Hämoglobinkrankheiten – aktuelle Konzepte und Herausforderungen

Kulozik, A. E., & Kunz, J. B. (2019) · Transfusionsmedizin · doi:10.1055/a-0825-9666 · Cited by 2

A Zinc Finger Transcription Factor Faithfully Dedicated to Only a Single Target Gene in Erythroid Cells

Kim, J., & Dean, A. (2021) · Molecular Cell · doi:10.1016/j.molcel.2020.12.023 · Cited by 1

A case-control genome-wide association study identifies ge netic modifie rs of fetal hemoglobin in sickle cell disease.

Liu, L., & Pertsemlidis, A. (2016) · The Medicine Forum · Cited by 1

Interrogation of Enhancer Function by Enhanced CRISPR Epigenetic EditingPreprint

Li, K., Liu, Y., Cao, H., Zhang, Y., Gu, Z., Liu, X., Yu, A., Kaphle, P., Dickerson, K. E., Ni, M., et al. (2019) · bioRxiv (Cold Spring Harbor Laboratory) · doi:10.1101/761247 · Cited by 1

Globin gene regulation for treating β-thalassemias: progress, obstacles and future

Saliba, A. N., Alameddine, R. S., Harb, A., & Taher, A. T. (2015) · Expert Opinion on Orphan Drugs · doi:10.1517/21678707.2015.1074071

Genome Editing in Mice Using TALENs

Aida, T. (2014) · Springer eBooks · doi:10.1007/978-4-431-55227-7_11

Keeping fetal hemoglobin in the loop

Grevet, J. D., & Blobel, G. A. (2014) · Cell Cycle · doi:10.4161/15384101.2014.969995

2014 William Allan Award: A Hematologist’s Pursuit of Hemoglobin Genetics1

Orkin, S. H. (2015) · The American Journal of Human Genetics · doi:10.1016/j.ajhg.2014.12.007

Society for Pediatric Research 2015 Young Investigator Award: genetics of human hematopoiesis—what patients can teach us about blood cell production

Wakabayashi, A., & Sankaran, V. G. (2015) · Pediatric Research · doi:10.1038/pr.2015.245

Barriers to Effective Genome Editing of Haematopoietic Stem Cells

Howe, S. J., & Milsom, M. D. (2016) · Current Stem Cell Reports · doi:10.1007/s40778-016-0032-x

Finding partners to play the music of regulation

Hardison, R. C. (2016) · Blood · doi:10.1182/blood-2016-02-697169

The long range regulation of breast cancer associated genes

Betts, J. A. (2016) · The University of Queensland · doi:10.14264/uql.2016.158

Anemia-recent Advances in Basic and Clinical Aspects

Komatsu, N. (2015) · Nihon Naika Gakkai Zasshi · doi:10.2169/naika.104.1361

Precision Medicine for Sickle Cell Disease: Discovery of Genetic Targets for Drug Development

Pace, B. S., Lopez, N. H., Zhu, X., & Li, Y. (2016) · InTech eBooks · doi:10.5772/64817 · Cited by 1

Elucidation of Mechanisms of Fetal Hemoglobin Regulation by CRISPR/Cas9 Mediated Genome Editing

Canver, M. C. (2016) · Digital Access to Scholarship at Harvard (DASH) (Harvard University)

"T-bet"-ing on autoimmunity variants

Nguyen, M. L. T., Simeonov, D. R., & Marson, A. (2017) · PLoS Genetics · doi:10.1371/journal.pgen.1006924

Stu Orkin is a superhero

Zon, L. I. (2018) · Journal of Clinical Investigation · doi:10.1172/jci124493

A functional characterisation of the PCSK6 locus associated with handedness

Shore, R. (2016) · St Andrews Research Repository (St Andrews Research Repository)

Functional Genomics

Mannstadt, M., & Wein, M. N. (2017) · Elsevier eBooks · doi:10.1016/b978-0-12-804182-6.00006-x

CRISPR-Decryptr reveals cis-regulatory elements from noncoding perturbation screensPreprint

Rasmussen, A. W., Äijö, T., Gabitto, M. I., Carriero, N. J., Sanjana, N. E., Skok, J. A., & Bonneau, R. (2020) · bioRxiv (Cold Spring Harbor Laboratory) · doi:10.1101/2020.08.13.247007

Sickle cell anemia: HBB haplotypes; clinical heterogeneity; iPSC modeling

Vanuytsel, K., Steinberg, M. H., & Murphy, G. J. (2020) · Elsevier eBooks · doi:10.1016/b978-0-12-822227-0.00002-8

Expression analysis of gamma globin gene switching associated micro RNAs, flowing BCL11A gene inhibition

Obeidi, N., Tamaddon, G., Ranjbaran, R., Khamisipour, G., & Saberi, F. (2020) · Gene Reports · doi:10.1016/j.genrep.2020.100934

Flipping the Hemoglobin Switch and Discovering Regulators Involved in Fetal Hemoglobin Reactivation

Boontanrart, M. Y. (2020) · eScholarship (California Digital Library)

find-tfbs: a tool to identify functional non-coding variants associated with complex human traits using open chromatin maps and phased whole-genome sequencesPreprint

de Bellefon, S. M., Thibord, F., Auer, P. L., Blangero, J., Coban‐Akdemir, Z., Floyd, J. S., Fornage, M., Johnsen, J. M., Lange, L. A., Lewis, J. P., et al. (2020) · bioRxiv (Cold Spring Harbor Laboratory) · doi:10.1101/2020.11.23.394296

What HaveWe Learned fromGWAS?

Voight, B. F. (2021) · Springer eBooks · doi:10.1007/978-3-030-61646-5_7

“Priority delivery” options for gene therapy

Loke, J. C. T. (2021) · Blood · doi:10.1182/blood.2021012761

Caracterização celular do sistema hematopoético e dos nichos hematopoéticos de modelo murino da anemia falciforme

Rós, F. A. (2021) · Digital Library of Theses and Dissertations (Universidade de São Paulo) · doi:10.11606/d.17.2021.tde-04102021-161614

The Authority of Gene Modifiers in β-Thalassemia Major and Its Relationship to the Pathophysiology of the Disease

Eldin, E. N., Sayed, S. A., Ismail, A. M., Abdellatif, H., Idriss, N. K., & Abd‐Elkader, A. S. (2022) · Journal of Hunan University Natural Sciences · doi:10.55463/issn.1674-2974.49.2.21

Single-dosed exa-cel leads to early and durable increase of foetal haemoglobin

Locatelli, F., & Dooper, M. (2022) · doi:10.55788/35b36a46

Efficient repair of human homozygous genetic mutation by CRISPR/Cas9 mediated interlocus gene conversionPreprint

Yang, F., Pang, J., Liu, G., Yang, Y., Qin, S., Zhang, Y., Lai, Y., Liang, D., & Wu, Y. (2022) · bioRxiv (Cold Spring Harbor Laboratory) · doi:10.1101/2022.09.05.506576

β-Thalassaemias: Highlights from the European Hematology Association Scientific Working Group (EHA-SWG) Scientific Meeting on Anaemias: Diagnosis and Treatment in the Omics Era

Weatherall, K. L. (2017) · EMJ Hematology · doi:10.33590/emjhematol/10314834

CRISPR/Cas9-Mediated Disruption of Endo16 Cis-Regulatory Elements in Sea Urchin Embryos

Xing, L., Wang, L., Roos, F., Lee, M., & Wray, G. A. (2023) · Fishes · doi:10.3390/fishes8020118

In vivo dissection of the mouse tyrosine catabolic pathway with CRISPR-Cas9 identifies modifier genes affecting hereditary tyrosinemia type 1Preprint

Rivest, J.-F., Carter, S., Goupil, C., Cyr, D., Ung, R., Soglio, D. B. D., Mac‐Way, F., Waters, P. J., Paganelli, M., & Doyon, Y. (2023) · bioRxiv (Cold Spring Harbor Laboratory) · doi:10.1101/2023.09.29.559947

Prioritization of The Zinc finger domain within BCL11A by the Amelioration capability of hemoglobinopathies using CRISPR-Cas9 technologyPreprint

Mumtaz, K., Hussain, I., Iftikhar, F., Rehman, F. U., Jameel, M., Farooq, S., Hassan, H., Fatima, A., Ottmann, O. G., & Mian, A. A. (2023) · bioRxiv (Cold Spring Harbor Laboratory) · doi:10.1101/2023.11.28.568974

Applications of CRISPR/Cas 9 Based Technologies in the Field of Pharmacology: A Traditional Review

Ustaömer, S., & Yaşar, Y. K. (2023) · Journal of Literature Pharmacy Sciences · doi:10.5336/pharmsci.2023-96500

Conventional and Innovative Molecular Approaches Developed for Treating Hemoglobinopathies

Miliotou, Α. N., Georgiou‐Siafis, S. K., Vlachaki, E., Pappas, I. S., Vizirianakis, I. S., Tsiftsoglou, A. S., & Papadopoulou, L. C. (2023) · Elsevier eBooks · doi:10.1016/b978-0-443-15717-2.00025-1

Integration of multi-omic data to identify transcriptional targets during human hematopoietic stem cell erythroid differentiation

Prasad, M., Choudhuri, A., Yang, S. P., Flynn, E., Zon, L. I., & Zhou, Y. (2024) · Elsevier eBooks · doi:10.1016/b978-0-443-13222-3.00005-8

Applied Stem Cell Research in Sickle Cell Disease

Kiumarsi, A., Rostami, T., & Mohammadi, M. S. (2024) · Elsevier eBooks · doi:10.1016/b978-0-443-15717-2.00027-5

Gene Editing Approaches for Haematological Disorders

Ferrari, S., & Canarutto, D. (2024) · Elsevier eBooks · doi:10.1016/b978-0-443-15717-2.00053-6

Connecting the dots from let-7 to HIC2 to HBG

Dean, A. (2024) · Blood · doi:10.1182/blood.2024024191 · Cited by 1

BCL11A expression worsens the prognosis of DLBCL and its co-expression with C-MYC predicts poor survival

Wang, L., He, H., Li, Y., Wang, X., Yu, J., Huang, Y., Yu, K., He, J., Zhao, M., Xie, T., et al. (2024) · Pathology - Research and Practice · doi:10.1016/j.prp.2024.155717

Genetic variants within silencer elements shape human blood cell phenotype diversityPreprint

Tan, M., van Weerd, J., Yavas, A., & Pang, B. (2025) · bioRxiv (Cold Spring Harbor Laboratory) · doi:10.1101/2025.01.13.632723

Fine-Mapping and Genome Editing Reveal An Essential Erythroid Enhancer At The HbF-Associated BCL11A Locus

Bauer, D. E., Kamran, S. C., Lessard, S., Xu, J., Fujiwara, Y., Lin, C., Shao, Z., Canver, M. C., Smith, E. C., Pinello, L., et al. (2013) · Blood · doi:10.1182/blood.v122.21.437.437 · Cited by 1

HbF-Associated Genetic Variation Marks an Erythroid Regulatory Element Essential for BCL11A Transcription and Subsequent Stage-Specific Globin Expression

Bauer, D. E., Kamran, S. C., Xu, J., Lin, C., Shao, Z., Fujiwara, Y., Voit, R. A., Porteus, M. H., Stamatoyannopoulos, J. A., & Orkin, S. H. (2012) · Blood · doi:10.1182/blood.v120.21.828.828

53. From GWAS To the Clinic: Genome-Editing the Human BCL11A Erythroid Enhancer for Fetal Globin Elevation in the Hemoglobinopathies

Reik, A., Chang, K.-H., Vierstra, J. D., Psatha, N., Stehling-Sun, S., Zhou, Y., O’Neil, C. M., Mich, A., Miller, J. C., Lee, G., et al. (2015) · Molecular Therapy · doi:10.1016/s1525-0016(16)33658-9 · Cited by 2

Recent advances in globin research using genome‐wide association studies and gene editing

Orkin, S. H. (2016) · Annals of the New York Academy of Sciences · doi:10.1111/nyas.13001 · Cited by 17

Post GWAS functional characterization of BCL11A locus toward the development of a treatment for B-thalassemia

(2013) · P-arch (Science and Technology Park of Sardinia)