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| D'Gama AM, Phillips HW, Wang Y, et al. (2024) Analysis of DNA from brain tissue on stereo-EEG electrodes reveals mosaic epilepsy-related variants. Medrxiv : the Preprint Server For Health Sciences |
| Choudhury S, Sivankutty I, Jung Y, et al. (2024) Single-nucleus multi-omic profiling of polyploid heart nuclei identifies fusion-derived cardiomyocytes in the human heart. Research Square |
| Huang AY, Zhou Z, Talukdar M, et al. (2024) Somatic cancer driver mutations are enriched and associated with inflammatory states in Alzheimer's disease microglia. Biorxiv : the Preprint Server For Biology |
| Lee AS, Ayers LJ, Kosicki M, et al. (2023) A cell type-aware framework for nominating non-coding variants in Mendelian regulatory disorders. Medrxiv : the Preprint Server For Health Sciences |
| Lai J, Demirbas D, Kim J, et al. (2023) ATM-deficiency-induced microglial activation promotes neurodegeneration in ataxia-telangiectasia. Cell Reports. 43: 113622 |
| Phillips HW, D'Gama AM, Wang Y, et al. (2023) Somatic Mosaicism in Variant Correlates With Stereoelectroencephalography-Derived Electrophysiology. Neurology. Genetics. 10: e200117 |
| Zhou Z, Kim J, Huang AY, et al. (2023) Somatic Mosaicism in Amyotrophic Lateral Sclerosis and Frontotemporal Dementia Reveals Widespread Degeneration from Focal Mutations. Biorxiv : the Preprint Server For Biology |
| Zhao B, Nguyen MA, Woo S, et al. (2023) Contribution and therapeutic implications of retroelement insertions in ataxia telangiectasia. American Journal of Human Genetics |
| Kim J, Woo S, de Gusmao CM, et al. (2023) A framework for individualized splice-switching oligonucleotide therapy. Nature |
| Khoshkhoo S, Wang Y, Chahine Y, et al. (2023) Contribution of Somatic Ras/Raf/Mitogen-Activated Protein Kinase Variants in the Hippocampus in Drug-Resistant Mesial Temporal Lobe Epilepsy. Jama Neurology |