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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 |
Rodriguez-Martin B, Alvarez EG, Baez-Ortega A, et al. (2023) Author Correction: Pan-cancer analysis of whole genomes identifies driver rearrangements promoted by LINE-1 retrotransposition. Nature Genetics |
Kim J, Huang AY, Johnson SL, et al. (2022) Prevalence and mechanisms of somatic deletions in single human neurons during normal aging and in DNA repair disorders. Nature Communications. 13: 5918 |