Somatic Mutations and Cell Lineage in the Human Brain

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Aging and neurodegeneration are associated with increased mutations in single human neurons

Michael A. Lodato, Rachel E. Rodin, Craig L. Bohrson, et al.. (2017). Science. Cited 566 times. https://doi.org/10.1126/science.aao4426

Single-Neuron Sequencing Analysis of L1 Retrotransposition and Somatic Mutation in the Human Brain

Gilad D. Evrony, Xuyu Cai, E. Lee, et al.. (2012). Cell. Cited 529 times. https://doi.org/10.1016/j.cell.2012.09.035

Somatic mutation in single human neurons tracks developmental and transcriptional history

Michael A. Lodato, Mollie B. Woodworth, Semin Lee, et al.. (2015). Science. Cited 521 times. https://doi.org/10.1126/science.aab1785

Single-Cell, Genome-wide Sequencing Identifies Clonal Somatic Copy-Number Variation in the Human Brain

Xuyu Cai, Gilad D. Evrony, Hillel S. Lehmann, et al.. (2014). Cell reports. Cited 265 times. https://doi.org/10.1016/j.celrep.2014.07.043

Building a lineage from single cells: genetic techniques for cell lineage tracking

Mollie B. Woodworth, Kelly M. Girskis, C. Walsh. (2017). Nature Reviews Genetics. Cited 230 times. https://doi.org/10.1038/nrg.2016.159

Resolving rates of mutation in the brain using single-neuron genomics

Gilad D. Evrony, E. Lee, P. Park, et al.. (2016). eLife. Cited 153 times. https://doi.org/10.7554/eLife.12966

Landmarks of human embryonic development inscribed in somatic mutations

S. Bizzotto, Yanmei Dou, J. Ganz, et al.. (2021). Science. Cited 93 times. https://doi.org/10.1126/science.abe1544

Single-cell genome sequencing of human neurons identifies somatic point mutation and indel enrichment in regulatory elements

Lovelace J. Luquette, Michael B. Miller, Zinan Zhou, et al.. (2022). Nature Genetics. Cited 72 times. https://doi.org/10.1038/s41588-022-01180-2

Accurate detection of mosaic variants in sequencing data without matched controls

Yanmei Dou, Minseok Kwon, Rachel E. Rodin, et al.. (2019). Nature biotechnology. Cited 67 times. https://doi.org/10.1038/s41587-019-0368-8

Genome aging: somatic mutation in the brain links age-related decline with disease and nominates pathogenic mechanisms.

Michael A. Lodato, C. Walsh. (2019). Human molecular genetics. Cited 39 times. https://doi.org/10.1093/hmg/ddz191

Somatic Mutation in Pediatric Neurological Diseases.

Rachel E. Rodin, C. Walsh. (2018). Pediatric neurology. Cited 19 times. https://doi.org/10.1016/j.pediatrneurol.2018.08.008

PaSD-qc: quality control for single cell whole-genome sequencing data using power spectral density estimation

Maxwell A. Sherman, Alison R. Barton, Michael A. Lodato, et al.. (2017). Nucleic Acids Research. Cited 12 times. https://doi.org/10.1101/166637
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