Phillip A. Doerfler, PhD

Publications

• Potent and uniform fetal hemoglobin induction via base editing.

  (Mayuranathan T, Newby GA, Feng R, Yao Y, Mayberry KD, Lazzarotto CR, Li Y, Levine RM, Nimmagadda N, Dempsey E, Kang G, Porter SN, Doerfler PA, Zhang J, Jang Y, Chen J, Bell HW, Crossley M, Bhoopalan SV, Sharma A, Tisdale JF, Pruett-Miller SM, Cheng Y, Tsai SQ, Liu DR, Weiss MJ, Yen JS.) Nat Genet. 2023 Jul;55(7):1210-1220 PMID: 37400614 PMCID: PMC10722557 07/04/2023

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

  (Feng R, Mayuranathan T, Huang P, Doerfler PA, Li Y, Yao Y, Zhang J, Palmer LE, Mayberry K, Christakopoulos GE, Xu P, Li C, Cheng Y, Blobel GA, Simon MC, Weiss MJ.) Nature. 2022 Oct;610(7933):783-790 PMID: 36224385 PMCID: PMC9773321 10/13/2022

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

  (Woodard KJ, Doerfler PA, Mayberry KD, Sharma A, Levine R, Yen J, Valentine V, Palmer LE, Valentine M, Weiss MJ.) Dis Model Mech. 2022 Jun 01;15(6) PMID: 35793591 PMCID: PMC9277148 07/07/2022

• Publisher Correction: Dual function NFI factors control fetal hemoglobin silencing in adult erythroid cells.

  (Qin K, Huang P, Feng R, Keller CA, Peslak SA, Khandros E, Saari MS, Lan X, Mayuranathan T, Doerfler PA, Abdulmalik O, Giardine B, Chou ST, Shi J, Hardison RC, Weiss MJ, Blobel GA.) Nat Genet. 2022 Jun;54(6):906 PMID: 35650318 06/02/2022

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

  (Qin K, Huang P, Feng R, Keller CA, Peslak SA, Khandros E, Saari MS, Lan X, Mayuranathan T, Doerfler PA, Abdulmalik O, Giardine B, Chou ST, Shi J, Hardison RC, Weiss MJ, Blobel GA.) Nat Genet. 2022 Jun;54(6):874-884 PMID: 35618846 PMCID: PMC9203980 05/27/2022

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

  (Doerfler PA, Feng R, Li Y, Palmer LE, Porter SN, Bell HW, Crossley M, Pruett-Miller SM, Cheng Y, Weiss MJ.) Nat Genet. 2021 Aug;53(8):1177-1186 PMID: 34341563 PMCID: PMC8610173 08/04/2021

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

  (Leibowitz ML, Papathanasiou S, Doerfler PA, Blaine LJ, Sun L, Yao Y, Zhang CZ, Weiss MJ, Pellman D.) Nat Genet. 2021 Jun;53(6):895-905 PMID: 33846636 PMCID: PMC8192433 04/14/2021

• Genetic therapies for the first molecular disease.

  (Doerfler PA, Sharma A, Porter JS, Zheng Y, Tisdale JF, Weiss MJ.) J Clin Invest. 2021 Apr 15;131(8) PMID: 33855970 PMCID: PMC8262557 04/16/2021

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

  (Doyle BM, Turner SMF, Sunshine MD, Doerfler PA, Poirier AE, Vaught LA, Jorgensen ML, Falk DJ, Byrne BJ, Fuller DD.) Mol Ther Methods Clin Dev. 2019 Dec 13;15:194-203 PMID: 31660421 PMCID: PMC6807287 10/30/2019

• Genome editing of HBG1 and HBG2 to induce fetal hemoglobin.

  (Métais JY, Doerfler PA, Mayuranathan T, Bauer DE, Fowler SC, Hsieh MM, Katta V, Keriwala S, Lazzarotto CR, Luk K, Neel MD, Perry SS, Peters ST, Porter SN, Ryu BY, Sharma A, Shea D, Tisdale JF, Uchida N, Wolfe SA, Woodard KJ, Wu Y, Yao Y, Zeng J, Pruett-Miller S, Tsai SQ, Weiss MJ.) Blood Adv. 2019 Nov 12;3(21):3379-3392 PMID: 31698466 PMCID: PMC6855127 11/08/2019

• Targeted approaches to induce immune tolerance for Pompe disease therapy.

  (Doerfler PA, Nayak S, Corti M, Morel L, Herzog RW, Byrne BJ.) Mol Ther Methods Clin Dev. 2016;3:15053 PMID: 26858964 PMCID: PMC4729315 02/10/2016

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

  (Doerfler PA, Todd AG, Clément N, Falk DJ, Nayak S, Herzog RW, Byrne BJ.) Hum Gene Ther. 2016 Jan;27(1):43-59 PMID: 26603344 PMCID: PMC4741206 11/26/2015