Removal of promoter CpG methylation by epigenome editing reverses HBG silencing

Henry W. Bell, Ruopeng Feng, Manan Shah, Yu Yao, James Douglas, Phillip A. Doerfler, Thiyagaraj Mayuranathan, Michael F O'Dea, Yichao Li, Yong-Dong Wang, Jingjing Zhang, Joel P. Mackay, Yong Cheng, K. Quinlan, Mitchell J Weiss, M. Crossley

Nature Communications, 2025

Single-cell transcriptomics reveals heterocellular g-globin gene expression in Agdb-thalassemia.

Phillip A. Doerfler, Yichao Li, Yu Yao, Ruopeng Feng, Thiyagaraj Mayuranathan, Jingjing Zhang, Emilia M. Kooienga, David Cullins, Rohith Jesudas, Dillon C Williams, J. S. Hankins, Yong Cheng, David K. Wood, Mitchell J. Weiss

Blood Advances, 2025

Hydroxyurea reduces the levels of the fetal globin gene repressors ZBTB7A/LRF and BCL11A in erythroid cells in vitro

Gabriella E Martyn, Phillip A. Doerfler, Yu Yao, K. Quinlan, Mitchell J. Weiss, M. Crossley

Journal of sickle cell disease, 2024

Potent and uniform fetal hemoglobin induction via base editing

Thiyagaraj Mayuranathan, Gregory A. Newby, Ruopeng Feng, Yu Yao, Kalin Mayberry, C. Lazzarotto, Yichao Li, Rachel M. Levine, Nikitha Nimmagadda, Erin Dempsey, G. Kang, Shaina N. Porter, Phillip A. Doerfler, Jingjing Zhang, YoonJeong Jang, Jingjing Chen, Henry W. Bell, M. Crossley, S. Bhoopalan, Akshay Sharma, J. Tisdale, S. Pruett-Miller, Yong Cheng, S. Tsai, David R. Liu, M. Weiss, Jonathan S. Yen

Nature Genetics, 2023

Activation of γ-globin expression by hypoxia-inducible factor 1α

Ruopeng Feng, Thiyagaraj Mayuranathan, Peng Huang, Phillip A. Doerfler, Yichao Li, Yu Yao, Jingjing Zhang, L. Palmer, Kalin Mayberry, Georgios E Christakopoulos, Peng Xu, Chunliang Li, Yong Cheng, G. Blobel, M. Simon, M. Weiss

Nature, 2022

Dual function NFI factors control fetal hemoglobin silencing in adult erythroid cells

Kunhua Qin, Peng Huang, Ruopeng Feng, C. Keller, S. A. Peslak, Eugene Khandros, Megan S. Saari, Xianjiang Lan, Thiyagaraj Mayuranathan, Phillip A. Doerfler, O. Abdulmalik, B. Giardine, S. Chou, Junwei Shi, R. Hardison, M. Weiss, G. Blobel

Nature Genetics, 2022

Limitations of mouse models for sickle cell disease conferred by their human globin transgene configurations

Kaitly J. Woodard, Phillip A. Doerfler, Kalin Mayberry, Akshay Sharma, Rachel M Levine, J. Yen, V. Valentine, L. Palmer, Marcus L Valentine, M. Weiss

Disease Models & Mechanisms, 2022

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

Phillip A. Doerfler, Ruopeng Feng, Yichao Li, L. Palmer, Shaina N. Porter, Henry W. Bell, M. Crossley, S. Pruett-Miller, Yong Cheng, M. Weiss

Nature Genetics, 2021

Genetic therapies for the first molecular disease.

Phillip A. Doerfler, Akshay Sharma, Jerlym S. Porter, Yan Zheng, J. Tisdale, M. Weiss

Journal of Clinical Investigation, 2021

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

Mitchell L. Leibowitz, Stamatis Papathanasiou, Phillip A. Doerfler, Logan J. Blaine, Lili Sun, Yu Yao, Cheng-Zhong Zhang, M. Weiss, D. Pellman

Nature Genetics, 2020

AAV Gene Therapy Utilizing Glycosylation-Independent Lysosomal Targeting Tagged GAA in the Hypoglossal Motor System of Pompe Mice

Brendan M. Doyle, S. Turner, M. Sunshine, Phillip A. Doerfler, A. Poirier, Lauren A. Vaught, Marda S Jorgensen, D. Falk, B. Byrne, D. Fuller

Molecular Therapy: Methods & Clinical Development, 2019

Genome editing of HBG1 and HBG2 to induce fetal hemoglobin.

J. Métais, Phillip A. Doerfler, Thiyagaraj Mayuranathan, Daniel E. Bauer, S. Fowler, M. Hsieh, Varun Katta, Sagar Keriwala, C. Lazzarotto, Kevin Luk, Michael D. Neel, S. Scott Perry, Samuel T. Peters, Shaina N. Porter, Byoung Y. Ryu, Akshay Sharma, Devlin N. Shea, J. Tisdale, N. Uchida, S. Wolfe, Kaitly J. Woodard, Yuxuan Wu, Yu Yao, Jing Zeng, S. Pruett-Miller, S. Tsai, Mitchell J. Weiss

Blood Advances, 2019

Copackaged AAV9 Vectors Promote Simultaneous Immune Tolerance and Phenotypic Correction of Pompe Disease.

Phillip A. Doerfler, A. G. Todd, N. Clément, D. Falk, Sushrusha Nayak, R. Herzog, B. Byrne

Human Gene Therapy, 2016

Targeted approaches to induce immune tolerance for Pompe disease therapy

Phillip A. Doerfler, Sushrusha Nayak, M. Corti, L. Morel, R. Herzog, B. Byrne

Molecular Therapy: Methods & Clinical Development, 2016

BAFF blockade prevents anti-drug antibody formation in a mouse model of Pompe disease.

Phillip A. Doerfler, Sushrusha Nayak, R. Herzog, L. Morel, B. Byrne

Clinical Immunology, 2015

Oral delivery of Acid Alpha Glucosidase epitopes expressed in plant chloroplasts suppresses antibody formation in treatment of Pompe mice.

Jin Su, A. Sherman, Phillip A. Doerfler, B. Byrne, R. Herzog, H. Daniell

Plant Biotechnology Journal, 2015

B-cell depletion is protective against anti-AAV capsid immune response: a human subject case study

M. Corti, Melissa E. Elder, D. Falk, Lee Ann Lawson, Barbara K. Smith, Sushrusha Nayak, T. Conlon, Nathalie Clement, Kirsten E. Erger, E. Lavassani, M. Green, Phillip A. Doerfler, Roland W. Herzog, Barry J. Byrne

Molecular Therapy: Methods & Clinical Development, 2014

Copackaging of multiple adeno-associated viral vectors in a single production step.

Phillip A. Doerfler, B. Byrne, N. Clément

Human Gene Therapy Methods, 2014

Immune Responses and Hypercoagulation in ERT for Pompe Disease Are Mutation and rhGAA Dose Dependent

Sushrusha Nayak, Phillip A. Doerfler, S. Porvasnik, D. Cloutier, R. Khanna, K. Valenzano, R. Herzog, B. Byrne

PLoS ONE, 2014