#  Featured Publications 

 



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### iPS Derivation:

Sort- (2025) [NEAT1-mediated regulation of proteostasis and mRNA localization impacts autophagy dysregulation in Rett syndrome](https://doi.org/10.1093/nar/gkaf074)



- (2024) [Generation and characterization of six human induced pluripotent stem cell lines (hiPSCs) from three individuals with SSADH Deficiency and CRISPR-corrected isogenic controls](https://doi.org/10.1016/j.scr.2024.103424)



- (2024) [Posttranscriptional regulation of FAN1 by miR-124-3p at rs3512 underlies onset-delaying genetic modification in Huntington’s disease](https://www.pnas.org/doi/abs/10.1073/pnas.2322924121)



- (2024) [Base editing strategies to convert CAG to CAA diminish the disease-causing mutation in Huntington's disease](https://elifesciences.org/articles/89782)



- (2024) [ATM-deficiency-induced microglial activation promotes neurodegeneration in ataxia-telangiectasia](https://doi.org/10.1016/j.celrep.2023.113622)



- (2023) [Imbalanced unfolded protein response signaling contributes to 1-deoxysphingolipid retinal toxicity](https://doi.org/10.1038/s41467-023-39775-w)



- (2023) [Single‐cell transcriptomics stratifies organoid models of metabolic dysfunction‐associated steatotic liver disease](https://doi.org/10.15252/embj.2023113898)



- (2023) [Polystyrene nanoplastics affect transcriptomic and epigenomic signatures of human fibroblasts and derived induced pluripotent stem cells: Implications for human health](https://doi.org/10.1016/j.envpol.2022.120849)



- (2023) [iPSC–derived retinal pigmented epithelial cells from patients with macular telangiectasia show decreased mitochondrial function](https://doi.org/10.1172/JCI163771)



- (2023) [Integrating human iPSC‐derived macrophage progenitors into retinal organoids to generate a mature retinal microglial niche](https://doi.org/10.1002/glia.24428)



- (2023) [Increased degradation of FMRP contributes to neuronal hyperexcitability in tuberous sclerosis complex](https://doi.org/10.1016/j.celrep.2023.112838)



- (2022) [Molecular convergence between Down syndrome and fragile X syndrome identified using human pluripotent stem cell models](https://www.cell.com/cell-reports/pdf/S2211-1247(22)01136-6.pdf)



- (2022) [The 22q11. 2 region regulates presynaptic gene-products linked to schizophrenia](https://www.nature.com/articles/s41467-022-31436-8)



- (2022) [Cell-specific cis-regulatory elements and mechanisms of non-coding genetic disease in human retina and retinal organoids](https://www.cell.com/developmental-cell/pdf/S1534-5807(22)00120-4.pdf)



- (2022) [Patient-derived three-dimensional cortical neurospheres to model Parkinson's disease](https://journals.plos.org/plosone/article?id=10.1371/journal.pone.0277532)



- (2022) [Attenuation of SARS-CoV-2 infection by losartan in human kidney organoids](https://www.cell.com/iscience/pdf/S2589-0042(22)00088-8.pdf)



- (2022) [16p13. 11 deletion variants associated with neuropsychiatric disorders cause morphological and synaptic changes in induced pluripotent stem cell-derived neurons](/)



- (2022) [A Brain-Penetrant Stearoyl-CoA Desaturase Inhibitor Reverses α-Synuclein Toxicity](https://link.springer.com/article/10.1007/s13311-022-01199-7)



- (2022) [Allele-specific silencing of the gain-of-function mutation in Huntington's disease using CRISPR/Cas9](https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9675467/)



- (2022) [Extra-hematopoietic immunomodulatory role of the guanine-exchange factor DOCK2](https://www.nature.com/articles/s42003-022-04078-1)







### Gene Editing: 

Sort- (2025) [Generation of a human iPSC line with Notch3 R133C mutation by CRISPR/Cas9: A tool for investigating CADASIL](https://doi.org/10.1016/j.scr.2025.103678)



- (2025) [NF2 is Essential for Human Endoderm Development](https://doi.org/10.1002/advs.202410909)



- (2024) [Human cerebellar organoids with functional Purkinje cells](https://www.cell.com/cell-stem-cell/fulltext/S1934-5909(23)00430-7)



- (2024) [Generation and long-term culture of human cerebellar organoids from pluripotent stem cells](https://www.nature.com/articles/s41596-024-01093-w)



- (2023) [Cell-type specific defects in PTEN-mutant cortical organoids converge on abnormal circuit activity](https://doi.org/10.1093/hmg/ddad107)



- (2023) [Human pluripotent stem cells-derived inner ear organoids recapitulate otic development in vitro](https://doi.org/10.1242/dev.201865)



- (2022) [Autism genes converge on asynchronous development of shared neuron classes](https://doi.org/10.1038/s41586-021-04358-6)







### iPS Derivation and Gene Editing:

Sort- (2024) [APOE3 Christchurch modulates β-catenin/Wnt signaling in iPS cell-derived cerebral organoids from Alzheimer’s cases](https://doi.org/10.3389/fnmol.2024.1373568)



- (2023) [Econazole selectively induces cell death in NF1-homozygous mutant tumor cells](https://doi.org/10.1016/j.xcrm.2023.101309)



- (2023) [Directed differentiation of human pluripotent stem cells into articular cartilage reveals effects caused by absence of WISP3, the gene responsible for progressive pseudorheumatoid arthropathy of childhood](https://doi.org/10.1136/ard-2023-224304)[ ](http://dx.doi.org/10.1136/ard-2023-224304)



- (2022) [DGAT2 inhibition potentiates lipid droplet formation to reduce cytotoxicity in APOL1 kidney risk variants](https://doi.org/10.1681/ASN.2021050723)



- (2021) [Human sensorimotor organoids derived from healthy and amyotrophic lateral sclerosis stem cells form neuromuscular junctions](https://doi.org/10.1038/s41467-021-24776-4)