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HMGA2 Moderately Increases Fetal Hemoglobin Expression in Human Adult Erythroblasts

de Vasconcellos, J. F., Lee, Y. T., Byrnes, C., Tumburu, L., Rabel, A., & Miller, J. L. (2016) · PLoS ONE · doi:10.1371/journal.pone.0166928 · Cited by 12

The association of HBG2 , BCL11A, and HMIP polymorphisms with fetal hemoglobin and clinical phenotype in Iraqi Kurds with sickle cell disease

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Hemoglobinopathies and Thalassemias

Peslak, S. A., & Sayani, F. A. (2022) · Elsevier eBooks · doi:10.1016/b978-0-12-812534-2.00009-6 · Cited by 13

Base editing of key residues in the BCL11A-XL-specific zinc finger domains derepresses fetal globin expression

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Hidden secrets of the cancer genome: unlocking the impact of non-coding mutations in gene regulatory elements

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Selecting patients with sickle cell disease for gene addition or gene editing‐based therapeutic approaches: Report on behalf of a joint EHA Specialized Working Group and EBMT Hemoglobinopathies Working Party consensus conference

Franceschi, L. D., Locatelli, F., Rees, D. C., Chabannon, C., Dalle, J., Rivella, S., Iolascon, A., Lobitz, S., Abboud, M. R., de la Fuente, J., et al. (2025) · HemaSphere · doi:10.1002/hem3.70089 · Cited by 12

Ex vivo modification of hematopoietic stem and progenitor cells for gene therapy

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The Cas9 Hammer—and Sickle: A Challenge for Genome Editors

Urnov, F. D. (2021) · The CRISPR Journal · doi:10.1089/crispr.2021.29120.fur · Cited by 11

Natural and Experimental Rewiring of Gene Regulatory Regions

Downes, D. J., & Hughes, J. R. (2022) · Annual Review of Genomics and Human Genetics · doi:10.1146/annurev-genom-112921-010715 · Cited by 11

CRISPR-Based Tools for Fighting Rare Diseases

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Genome-wide identification and characterization of DNA enhancers with a stacked multivariate fusion framework

Wang, Y., Hou, Z., Yang, Y., Wong, K., & Li, X. (2022) · PLoS Computational Biology · doi:10.1371/journal.pcbi.1010779 · Cited by 11

Searching for ancient balanced polymorphisms shared between Neanderthals and Modern Humans

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Ontogeny and heterogeneity of innate lymphoid cells and the noncoding genome

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Physiological and Aberrant γ-Globin Transcription During Development

Barbarani, G., Łabędź, A., Stucchi, S., Abbiati, A., & Ronchi, A. E. (2021) · Frontiers in Cell and Developmental Biology · doi:10.3389/fcell.2021.640060 · Cited by 12

Modeling common and rare genetic risk factors of neuropsychiatric disorders in human induced pluripotent stem cells

Muhtaseb, A. W., & Duan, J. (2022) · Schizophrenia Research · doi:10.1016/j.schres.2022.04.003 · Cited by 11

Prime editing: A potential treatment option for β‐thalassemia

Arif, T., Farooq, A., Ahmad, F. J., Akhtar, M., & Choudhery, M. S. (2022) · Cell Biology International · doi:10.1002/cbin.11972 · Cited by 13

Treatment by CRISPR-Cas9 Gene Editing — A Proof of Principle

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An international effort to cure a global health problem: A report on the 19th Hemoglobin Switching Conference

Blobel, G. A., Bodine, D., Brand, M., Crispino, J., de Bruijn, M. F. T. R., Nathan, D., Papayannopoulou, T., Porcher, C., Strouboulis, J., Zon, L., et al. (2015) · Experimental Hematology · doi:10.1016/j.exphem.2015.06.008 · Cited by 9

Exa-cel in Children with Transfusion-Dependent β-Thalassemia or Sickle Cell Disease

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Cis-Regulatory Elements in Mammals

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

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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)