Somatic mutation in single human neurons tracks developmental and transcriptional history

Controlling the False Discovery Rate: A Practical and Powerful Approach to Multiple Testing

Benjamini, Y., & Hochberg, Y. (1995) · Journal of the Royal Statistical Society Series B: Statistical Methodology · doi:10.1111/j.2517-6161.1995.tb02031.x · Cited by 109,482

Fast and accurate short read alignment with Burrows-Wheeler transform

Li, H., & Durbin, R. (2009) · Bioinformatics · doi:10.1093/bioinformatics/btp324 · Cited by 58,607

Gene Ontology: tool for the unification of biology

Ashburner, M., Ball, C. A., Blake, J. A., Botstein, D., Butler, H., Cherry, J. M., Davis, A. P., Dolinski, K., Dwight, S. S., Eppig, J. T., et al. (2000) · Nature Genetics · doi:10.1038/75556 · Cited by 43,206

The Genome Analysis Toolkit: A MapReduce framework for analyzing next-generation DNA sequencing data

McKenna, A., Hanna, M., Banks, E., Sivachenko, A., Cibulskis, K., Kernytsky, A., Garimella, K., Altshuler, D., Gabriel, S., Daly, M., et al. (2010) · Genome Research · doi:10.1101/gr.107524.110 · Cited by 27,895

ANNOVAR: functional annotation of genetic variants from high-throughput sequencing data

Wang, K., Li, M., & Hakonarson, H. H. (2010) · Nucleic Acids Research · doi:10.1093/nar/gkq603 · Cited by 14,724

A framework for variation discovery and genotyping using next-generation DNA sequencing data

DePristo, M. A., Banks, E., Poplin, R. E., Garimella, K. V., Maguire, J., Hartl, C., Philippakis, A., del Angel, G., Rivas, M. A., Hanna, M., et al. (2011) · Nature Genetics · doi:10.1038/ng.806 · Cited by 11,457

A map of human genome variation from population-scale sequencing.

The 1000 Genomes Project Consortium (2010) · Nature · doi:10.1038/nature09534 · Cited by 7,877

Gene ontology analysis for RNA-seq: accounting for selection bias

Young, M. D., Wakefield, M. J., Smyth, G. K., & Oshlack, A. (2010) · Genome Biology · doi:10.1186/gb-2010-11-2-r14 · Cited by 7,107

Integrative analysis of 111 reference human epigenomes

Roadmap Epigenomics Consortium, Kundaje, A., Meuleman, W., Ernst, J., Bilenky, M., Yen, A., Heravi-Moussavi, A., Kheradpour, P., Zhang, Z., Wang, J., et al. (2015) · Nature · doi:10.1038/nature14248 · Cited by 6,368

Mutational heterogeneity in cancer and the search for new cancer-associated genes

Lawrence, M. S., Stojanov, P., Polak, P., Kryukov, G. V., Cibulskis, K., Sivachenko, A., Carter, S. L., Stewart, C., Mermel, C. H., Roberts, S. A., et al. (2013) · Nature · doi:10.1038/nature12213 · Cited by 5,461

RNA velocity of single cells

La Manno, G., Soldatov, R., Zeisel, A., Braun, E., Hochgerner, H., Petukhov, V., Lidschreiber, K., Kastriti, M. E., Lönnerberg, P., Furlan, A., et al. (2018) · Nature · doi:10.1038/s41586-018-0414-6 · Cited by 4,118

Opportunities and obstacles for deep learning in biology and medicine

Ching, T., Himmelstein, D. S., Beaulieu-Jones, B. K., Kalinin, A. A., Do, B. T., Way, G. P., Ferrero, E., Agapow, P.-M., Zietz, M., Hoffman, M. M., et al. (2018) · Journal of The Royal Society Interface · doi:10.1098/rsif.2017.0387 · Cited by 2,310

Endogenous DNA damage as a source of genomic instability in cancer

Tubbs, A., & Nussenzweig, A. (2017) · Cell · doi:10.1016/j.cell.2017.01.002 · Cited by 1,452

Single-cell genome sequencing: current state of the science

Gawad, C., Koh, W., & Quake, S. R. (2016) · Nature Reviews Genetics · doi:10.1038/nrg.2015.16 · Cited by 1,334

Integrative single-cell analysis

Stuart, T., & Satija, R. (2019) · Nature Reviews Genetics · doi:10.1038/s41576-019-0093-7 · Cited by 1,460

Epilepsy

Devinsky, O., Vezzani, A., O'Brien, T. J., Jetté, N., Scheffer, I. E., de Curtis, M., & Perucca, P. (2018) · Nature Reviews Disease Primers · doi:10.1038/nrdp.2018.24 · Cited by 998

Neuronal subtypes and diversity revealed by single-nucleus RNA sequencing of the human brain

Lake, B. B., Ai, R., Kaeser, G. E., Salathia, N. S., Yung, Y. C., Liu, R., Wildberg, A., Gao, D., Fung, H.-L., Chen, S., et al. (2016) · Science · doi:10.1126/science.aaf1204 · Cited by 957

Whole-organism lineage tracing by combinatorial and cumulative genome editing

McKenna, A., Findlay, G. M., Gagnon, J. A., Horwitz, M. S., Schier, A. F., & Shendure, J. (2016) · Science · doi:10.1126/science.aaf7907 · Cited by 766

The role of adult hippocampal neurogenesis in brain health and disease

Toda, T., Parylak, S. L., Linker, S. B., & Gage, F. H. (2019) · Molecular Psychiatry · doi:10.1038/s41380-018-0036-2 · Cited by 719

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

Lodato, M. A., Rodin, R. E., Bohrson, C. L., Coulter, M. E., Barton, A. R., Kwon, M., Sherman, M. A., Vitzthum, C. M., Luquette, L. J., Yandava, C. N., et al. (2018) · Science · doi:10.1126/science.aao4426 · Cited by 635

Lineage tracing meets single-cell omics: opportunities and challenges

Wagner, D. E., & Klein, A. M. (2020) · Nature Reviews Genetics · doi:10.1038/s41576-020-0223-2 · Cited by 617

Tumour heterogeneity and metastasis at single-cell resolution

Lawson, D. A., Kessenbrock, K., Davis, R. T., Pervolarakis, N., & Werb, Z. (2018) · Nature Cell Biology · doi:10.1038/s41556-018-0236-7 · Cited by 606

Single-Cell Analysis of Human Pancreas Reveals Transcriptional Signatures of Aging and Somatic Mutation Patterns

Enge, M., Arda, H. E., Mignardi, M., Beausang, J., Bottino, R., Kim, S. K., & Quake, S. R. (2017) · Cell · doi:10.1016/j.cell.2017.09.004 · Cited by 568

Lineage Tracing in Humans Enabled by Mitochondrial Mutations and Single-Cell Genomics

Ludwig, L. S., Lareau, C. A., Ulirsch, J. C., Christian, E., Muus, C., Li, L. H., Pelka, K., Ge, W. H., Oren, Y., Brack, A., et al. (2019) · Cell · doi:10.1016/j.cell.2019.01.022 · Cited by 554

Simultaneous lineage tracing and cell-type identification using CRISPR–Cas9-induced genetic scars

Spanjaard, B., Hu, B., Mitic, N., Olivares-Chauvet, P., Janjuha, S., Ninov, N., & Junker, J. P. (2018) · Nature Biotechnology · doi:10.1038/nbt.4124 · Cited by 531

Somatic mutation landscapes at single-molecule resolution

Abascal, F., Harvey, L. M. R., Mitchell, E., Lawson, A. R. J., Lensing, S. V., Ellis, P., Russell, A. J. C., Alcantara, R. E., Baez-Ortega, A., Wang, Y., et al. (2021) · Nature · doi:10.1038/s41586-021-03477-4 · Cited by 546

The mutational landscape of normal human endometrial epithelium

Moore, L., Leongamornlert, D., Coorens, T. H. H., Sanders, M. A., Ellis, P., Dentro, S. C., Dawson, K. J., Butler, T., Rahbari, R., Mitchell, T. J., et al. (2020) · Nature · doi:10.1038/s41586-020-2214-z · Cited by 499

Synthetic recording and in situ readout of lineage information in single cells

Frieda, K. L., Linton, J. M., Hormoz, S., Choi, J., Chow, K.-H. K., Singer, Z. S., Budde, M. W., Elowitz, M. B., & Cai, L. (2017) · Nature · doi:10.1038/nature20777 · Cited by 440

The multiplex model of the genetics of Alzheimer's disease

Sims, R., Hill, M., & Williams, J. (2020) · Nature Neuroscience · doi:10.1038/s41593-020-0599-5 · Cited by 466

New insights into the generation and role of de novo mutations in health and disease

Acuña‐Hidalgo, R., Veltman, J. A., & Hoischen, A. (2016) · Genome biology · doi:10.1186/s13059-016-1110-1 · Cited by 474

Differences between germline and somatic mutation rates in humans and mice

Milholland, B., Dong, X., Zhang, L., Hao, X., Suh, Y., & Vijg, J. (2017) · Nature Communications · doi:10.1038/ncomms15183 · Cited by 429

Single-cell whole-genome analyses by Linear Amplification via Transposon Insertion (LIANTI)

Chen, C., Xing, D., Tan, L., Li, H., Zhou, G., Huang, L., & Xie, X. S. (2017) · Science · doi:10.1126/science.aak9787 · Cited by 388

Single-Cell Transcriptomics Meets Lineage Tracing

Kester, L., & van Oudenaarden, A. (2018) · Cell Stem Cell · doi:10.1016/j.stem.2018.04.014 · Cited by 375

The amyloid cascade hypothesis: are we poised for success or failure?

Karran, E., & De Strooper, B. (2016) · Journal of Neurochemistry · doi:10.1111/jnc.13632 · Cited by 402

Sequential transcriptional waves direct the differentiation of newborn neurons in the mouse neocortex

Telley, L., Govindan, S., Prados, J., Stévant, I., Nef, S., Dermitzakis, E. T., Dayer, A. G., & Jabaudon, D. (2016) · Science · doi:10.1126/science.aad8361 · Cited by 315

Somatic Mutations Activating the mTOR Pathway in Dorsal Telencephalic Progenitors Cause a Continuum of Cortical Dysplasias

D’Gama, A. M., Woodworth, M. B., Hossain, A. A., Bizzotto, S., Hatem, N. E., LaCoursiere, C. M., Najm, I., Ying, Z., Yang, E., Barkovich, A. J., et al. (2017) · Cell Reports · doi:10.1016/j.celrep.2017.11.106 · Cited by 333

A comparative strategy for single-nucleus and single-cell transcriptomes confirms accuracy in predicted cell-type expression from nuclear RNA

Lake, B. B., Codeluppi, S., Yung, Y. C., Gao, D., Chun, J., Kharchenko, P. V., Linnarsson, S., & Zhang, K. (2017) · Scientific Reports · doi:10.1038/s41598-017-04426-w · Cited by 271

Massively parallel single-cell mitochondrial DNA genotyping and chromatin profiling

Lareau, C. A., Ludwig, L. S., Muus, C., Gohil, S. H., Zhao, T., Chiang, Z., Pelka, K., Verboon, J. M., Luo, W., Christian, E., et al. (2020) · Nature Biotechnology · doi:10.1038/s41587-020-0645-6 · Cited by 296

Disentangling neural cell diversity using single-cell transcriptomics

Poulin, J.-F., Tasic, B., Hjerling-Leffler, J., Trimarchi, J. M., & Awatramani, R. (2016) · Nature Neuroscience · doi:10.1038/nn.4366 · Cited by 293

Different mutational rates and mechanisms in human cells at pregastrulation and neurogenesis

Bae, T., Tomasini, L., Mariani, J., Zhou, B., Roychowdhury, T., Franjic, D., Pletikos, M., Pattni, R., Chen, B.-J., Venturini, E., et al. (2017) · Science · doi:10.1126/science.aan8690 · Cited by 267

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

Woodworth, M. B., Girskis, K. M., & Walsh, C. A. (2017) · Nature Reviews Genetics · doi:10.1038/nrg.2016.159 · Cited by 236

Mosaicism in health and disease — clones picking up speed

Forsberg, L. A., Gisselsson, D., & Dumanski, J. P. (2016) · Nature Reviews Genetics · doi:10.1038/nrg.2016.145 · Cited by 261

Intersection of diverse neuronal genomes and neuropsychiatric disease: The Brain Somatic Mosaicism Network

McConnell, M. J., Moran, J. V., Abyzov, A., Akbarian, S., Bae, T., Cortes-Ciriano, I., Erwin, J. A., Fasching, L., Flasch, D. A., Freed, D., et al. (2017) · Science · doi:10.1126/science.aal1641 · Cited by 262

Artificial intelligence for precision medicine in neurodevelopmental disorders

Uddin, M. J., Wang, Y., & Woodbury‐Smith, M. (2019) · npj Digital Medicine · doi:10.1038/s41746-019-0191-0 · Cited by 261

Somatic mosaicism and neurodevelopmental disease

D’Gama, A. M., & Walsh, C. A. (2018) · Nature Neuroscience · doi:10.1038/s41593-018-0257-3 · Cited by 249

Identification, discrimination and heterogeneity of fibroblasts

Lendahl, U., Muhl, L., & Betsholtz, C. (2022) · Nature Communications · doi:10.1038/s41467-022-30633-9 · Cited by 256

Accurate identification of single-nucleotide variants in whole-genome-amplified single cells

Dong, X., Zhang, L., Milholland, B., Lee, M., Maslov, A. Y., Wang, T., & Vijg, J. (2017) · Nature Methods · doi:10.1038/nmeth.4227 · Cited by 235

Neuronal enhancers are hotspots for DNA single-strand break repair

Wu, W., Kargbo-Hill, S. E., Nathan, W. J., Paiano, J., Callen, E., Wang, D., Shinoda, K., van Wietmarschen, N., Colón-Mercado, J. M., Zong, D., et al. (2021) · Nature · doi:10.1038/s41586-021-03468-5 · Cited by 223

Genome-wide quantification of rare somatic mutations in normal human tissues using massively parallel sequencing

Hoang, M. L., Kinde, I., Tomasetti, C., McMahon, K. W., Rosenquist, T. A., Grollman, A. P., Kinzler, K. W., Vogelstein, B., & Papadopoulos, N. (2016) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.1607794113 · Cited by 224

Influence of donor age on induced pluripotent stem cells

Lo Sardo, V., Ferguson, W., Erikson, G. A., Topol, E. J., Baldwin, K. K., & Torkamani, A. (2017) · Nature Biotechnology · doi:10.1038/nbt.3749 · Cited by 223

Somatic genomic changes in single Alzheimer’s disease neurons

Miller, M. B., Huang, A. Y., Kim, J., Zhou, Z., Kirkham, S. L., Maury, E. A., Ziegenfuss, J. S., Reed, H. C., Neil, J. E., Rento, L., et al. (2022) · Nature · doi:10.1038/s41586-022-04640-1 · Cited by 223

Somatic APP gene recombination in Alzheimer’s disease and normal neurons

Lee, M.-H., Siddoway, B., Kaeser, G. E., Segota, I., Rivera, R., Romanow, W. J., Liu, C. S., Park, C., Kennedy, G., Long, T., et al. (2018) · Nature · doi:10.1038/s41586-018-0718-6 · Cited by 210

Aging and the rise of somatic cancer-associated mutations in normal tissues

Risques, R. A., & Kennedy, S. R. (2018) · PLoS Genetics · doi:10.1371/journal.pgen.1007108 · Cited by 219

Rewiring of human neurodevelopmental gene regulatory programs by human accelerated regions

Girskis, K. M., Stergachis, A. B., DeGennaro, E. M., Doan, R. N., Qian, X., Johnson, M. B., Wang, P. P., Sejourne, G. M., Nagy, M. A., Pollina, E. A., et al. (2021) · Neuron · doi:10.1016/j.neuron.2021.08.005 · Cited by 193

Lineage recording in human cerebral organoids

He, Z., Maynard, A., Jain, A., Gerber, T., Petri, R., Lin, H., Santel, M., Ly, K. C. H., Dupré, J.-S., Sidow, L., et al. (2021) · Nature Methods · doi:10.1038/s41592-021-01344-8 · Cited by 204

Single-cell delineation of lineage and genetic identity in the mouse brain

Bandler, R. C., Vitali, I., Delgado, R. N., Ho, M. C., Dvoretskova, E., Molinas, J. S. I., Frazel, P. W., Mohammadkhani, M., Machold, R. P., Mädler, S. C., et al. (2021) · Nature · doi:10.1038/s41586-021-04237-0 · Cited by 206

Individual human cortical progenitors can produce excitatory and inhibitory neurons

Delgado, R. N., Allen, D. E., Keefe, M. G., Mancia, W., Ziffra, R. S., Crouch, E. E., Álvarez-Buylla, A., & Nowakowski, T. J. (2021) · Nature · doi:10.1038/s41586-021-04230-7 · Cited by 211

Molecular damage in aging

Gladyshev, V. N., Kritchevsky, S. B., Clarke, S. G., Cuervo, A. M., Fiehn, O., de Magalhães, J. P., Mau, T., Maes, M., Moritz, R. L., Niedernhofer, L. J., et al. (2021) · Nature Aging · doi:10.1038/s43587-021-00150-3 · Cited by 222

Unravelling cellular relationships during development and regeneration using genetic lineage tracing

Baron, C. S., & van Oudenaarden, A. (2019) · Nature Reviews Molecular Cell Biology · doi:10.1038/s41580-019-0186-3 · Cited by 183

A human tissue screen identifies a regulator of ER secretion as a brain-size determinant

Esk, C., Lindenhofer, D., Haendeler, S., Wester, R. A., Pflug, F., Schroeder, B., Bagley, J. A., Elling, U., Zuber, J., von Haeseler, A., et al. (2020) · Science · doi:10.1126/science.abb5390 · Cited by 170

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

Evrony, G. D., Lee, E., Park, P. J., & Walsh, C. A. (2016) · eLife · doi:10.7554/elife.12966 · Cited by 163

Independent origins of neurons and synapses: insights from ctenophores

Moroz, L. L., & Kohn, A. B. (2016) · Philosophical Transactions of the Royal Society B: Biological Sciences · doi:10.1098/rstb.2015.0041 · Cited by 171

Recording development with single cell dynamic lineage tracing

McKenna, A., & Gagnon, J. A. (2019) · Development · doi:10.1242/dev.169730 · Cited by 169

Origins, Biology, and Diseases of Tissue Macrophages

Cox, N., Pokrovskii, M. V., Vicario, R., & Geissmann, F. (2021) · Annual Review of Immunology · doi:10.1146/annurev-immunol-093019-111748 · Cited by 171

Somatic Mutations and Clonal Hematopoiesis

Fuster, J. J., & Walsh, K. X. (2018) · Circulation Research · doi:10.1161/circresaha.117.312115 · Cited by 166

Low number of fixed somatic mutations in a long-lived oak tree

Schmid-Siegert, E., Sarkar, N., Iseli, C., Calderon, S., Gouhier-Darimont, C., Chrast, J., Cattaneo, P., Schütz, F., Farinelli, L., Pagni, M., et al. (2017) · Nature Plants · doi:10.1038/s41477-017-0066-9 · Cited by 161

Germline and somatic mutations in the MTOR gene in focal cortical dysplasia and epilepsy

Møller, R. S., Weckhuysen, S., Chipaux, M., Marsan, E., Taly, V., Bebin, E. M., Hiatt, S. M., Prokop, J. W., Bowling, K. M., Mei, D., et al. (2016) · Neurology Genetics · doi:10.1212/nxg.0000000000000118 · Cited by 152

Imaging cell lineage with a synthetic digital recording system

Chow, K.-H. K., Budde, M. W., Granados, A. A., Cabrera, M., Yoon, S., Cho, S., Huang, T.-H., Koulena, N., Frieda, K. L., Cai, L., et al. (2021) · Science · doi:10.1126/science.abb3099 · Cited by 146

Detecting Somatic Mutations in Normal Cells

Dou, Y., Gold, H. D., Luquette, L. J., & Park, P. J. (2018) · Trends in Genetics · doi:10.1016/j.tig.2018.04.003 · Cited by 151

Extensive phylogenies of human development inferred from somatic mutations

Coorens, T. H. H., Moore, L., Robinson, P. S., Sanghvi, R., Christopher, J., Hewinson, J., Przybilla, M. J., Lawson, A. R. J., Chapman, M. S., Cagan, A., et al. (2021) · Nature · doi:10.1038/s41586-021-03790-y · Cited by 151

Recent advances in single-cell sequencing technologies

Wen, L., & Tang, F. (2022) · Precision Clinical Medicine · doi:10.1093/pcmedi/pbac002 · Cited by 127

Interpreting the Dependence of Mutation Rates on Age and Time

Gao, Z., Wyman, M. J., Sella, G., & Przeworski, M. (2016) · PLoS Biology · doi:10.1371/journal.pbio.1002355 · Cited by 148

Systematic comparative analysis of single-nucleotide variant detection methods from single-cell RNA sequencing data

Liu, F., Zhang, Y., Zhang, L., Li, Z., Fang, Q., Gao, R., & Zhang, Z. (2019) · Genome biology · doi:10.1186/s13059-019-1863-4 · Cited by 144

Clonal dynamics in early human embryogenesis inferred from somatic mutation

Park, S., Mali, N. M., Kim, R., Choi, J., Lee, J., Lim, J., Park, J. M., Park, J. W., Kim, D., Kim, T., et al. (2021) · Nature · doi:10.1038/s41586-021-03786-8 · Cited by 146

Cancer Diagnosis Using a Liquid Biopsy: Challenges and Expectations

Castro-Giner, F., Gkountela, S., Donato, C., Alborelli, I., Quagliata, L., Ng, C. K. Y., Piscuoglio, S., & Aceto, N. (2018) · Diagnostics · doi:10.3390/diagnostics8020031 · Cited by 142

Next-Generation Lineage Tracing and Fate Mapping to Interrogate Development

VanHorn, S., & Morris, S. A. (2020) · Developmental Cell · doi:10.1016/j.devcel.2020.10.021 · Cited by 139

Somatic mosaicism: on the road to cancer

Fernández, L. C., Torres, M., & Real, F. X. (2015) · Nature reviews. Cancer · doi:10.1038/nrc.2015.1 · Cited by 137

NGSCheckMate: software for validating sample identity in next-generation sequencing studies within and across data types

Lee, S., Lee, S., Ouellette, S., Park, W., Lee, E. A., & Park, P. J. (2017) · Nucleic Acids Research · doi:10.1093/nar/gkx193 · Cited by 133

Somatic Mutations in Vascular Malformations of Hereditary Hemorrhagic Telangiectasia Result in Bi-allelic Loss of ENG or ACVRL1

Snellings, D. A., Gallione, C. J., Clark, D. S., Vozoris, N. T., Faughnan, M. E., & Marchuk, D. A. (2019) · The American Journal of Human Genetics · doi:10.1016/j.ajhg.2019.09.010 · Cited by 133

Epigenetic Research in Neuropsychiatric Disorders: the “Tissue Issue”

Bakulski, K. M., Halladay, A., Hu, V. W., Mill, J., & Fallin, M. D. (2016) · Current Behavioral Neuroscience Reports · doi:10.1007/s40473-016-0083-4 · Cited by 127

Leveraging single-cell genomics to expand the fungal tree of life

Ahrendt, S. R., Quandt, C. A., Ciobanu, D., Clum, A., Salamov, A. A., Andreopoulos, B., Cheng, J., Woyke, T., Pelin, A., Henrissat, B., et al. (2018) · Nature Microbiology · doi:10.1038/s41564-018-0261-0 · Cited by 132

Mechanisms of DNA damage-mediated neurotoxicity in neurodegenerative disease

Welch, G., & Tsai, L. (2022) · The EMBO Reports · doi:10.15252/embr.202154217 · Cited by 129

Single-cell omics in ageing: a young and growing field

He, X., Memczak, S., Qu, J. T., Belmonte, J. C. I., & Liu, G. (2020) · Nature Metabolism · doi:10.1038/s42255-020-0196-7 · Cited by 129

Mitochondrial DNA point mutations and relative copy number in 1363 disease and control human brains

Wei, W., Keogh, M. J., Wilson, I., Coxhead, J., Ryan, S., Rollinson, S. J., Griffin, H. R., Kurzawa‐Akanbi, M., Santibanez‐Koref, M., Talbot, K., et al. (2017) · Acta Neuropathologica Communications · doi:10.1186/s40478-016-0404-6 · Cited by 128

The landscape of somatic mutation in normal colorectal epithelial cellsPreprint

Lee-Six, H., Ellis, P., Osborne, R. J., Sanders, M. A., Moore, L., Georgakopoulos, N., Torrente, F., Noorani, A., Goddard, M. J., Robinson, P. S., et al. (2018) · bioRxiv (Cold Spring Harbor Laboratory) · doi:10.1101/416800 · Cited by 128

Somatic mutagenesis in satellite cells associates with human skeletal muscle aging

Franco, I., Johansson, A., Olsson, K., Vrtačnik, P., Lundin, P., Helgadottir, H. T., Larsson, M., Revêchon, G., Bosia, C., Pagnani, A., et al. (2018) · Nature Communications · doi:10.1038/s41467-018-03244-6 · Cited by 128

Fate and freedom in developing neocortical circuits

Jabaudon, D. (2017) · Nature Communications · doi:10.1038/ncomms16042 · Cited by 134

The landscape of somatic mutation in cerebral cortex of autistic and neurotypical individuals revealed by ultra-deep whole-genome sequencing

Rodin, R. E., Dou, Y., Kwon, M., Sherman, M. A., D’Gama, A. M., Doan, R. N., Rento, L. M., Girskis, K. M., Bohrson, C. L., Kim, S. N., et al. (2021) · Nature Neuroscience · doi:10.1038/s41593-020-00765-6 · Cited by 135

Alzheimer's Disease Mechanisms and Emerging Roads to Novel Therapeutics

Sala Frigerio, C., & De Strooper, B. (2016) · Annual Review of Neuroscience · doi:10.1146/annurev-neuro-070815-014015 · Cited by 116

Single-cell genomics: coming of age

Linnarsson, S., & Teichmann, S. A. (2016) · Genome biology · doi:10.1186/s13059-016-0960-x · Cited by 121

APP/Aβ structural diversity and Alzheimer's disease pathogenesis

Roher, A. E., Kokjohn, T. A., Clarke, S. G., Sierks, M. R., Maarouf, C. L., Serrano, G. E., Sabbagh, M., & Beach, T. G. (2017) · Neurochemistry International · doi:10.1016/j.neuint.2017.08.007 · Cited by 126

Applications of Single-Cell DNA Sequencing

Evrony, G. D., Hinch, A. G., & Luo, C. (2021) · Annual Review of Genomics and Human Genetics · doi:10.1146/annurev-genom-111320-090436 · Cited by 129

Landmarks of human embryonic development inscribed in somatic mutations

Bizzotto, S., Dou, Y., Ganz, J., Doan, R. N., Kwon, M., Bohrson, C. L., Kim, S. N., Bae, T., Abyzov, A., NIMH Brain Somatic Mosaicism Network, et al. (2021) · Science · doi:10.1126/science.abe1544 · Cited by 117

Plant Systems Biology at the Single-Cell Level

Libault, M., Pingault, L., Zogli, P., & Schiefelbein, J. (2017) · Trends in Plant Science · doi:10.1016/j.tplants.2017.08.006 · Cited by 114

Multiple transmissions of de novo mutations in families

Jónsson, H., Sulem, P., Arnadottir, G. A., Pálsson, G., Eggertsson, H. P., Kristmundsdóttir, S., Zink, F., Kehr, B., Hjörleifsson, K. E., Jensson, B. Ö., et al. (2018) · Nature Genetics · doi:10.1038/s41588-018-0259-9 · Cited by 115

Single-cell analysis reveals different age-related somatic mutation profiles between stem and differentiated cells in human liver

Brazhnik, K., Sun, S., Alani, O., Kinkhabwala, M., Wolkoff, A. W., Maslov, A. Y., Dong, X., & Vijg, J. (2020) · Science Advances · doi:10.1126/sciadv.aax2659 · Cited by 114

L1 Mosaicism in Mammals: Extent, Effects, and Evolution

Faulkner, G. J., & Garcia-Perez, J. L. (2017) · Trends in Genetics · doi:10.1016/j.tig.2017.07.004 · Cited by 118

Lineage Plasticity in Cancer Progression and Treatment

Magnen, C. L., Shen, M. M., & Abate-Shen, C. T. (2017) · Annual Review of Cancer Biology · doi:10.1146/annurev-cancerbio-030617-050224 · Cited by 105

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

Luquette, L. J., Miller, M. B., Zhou, Z., Bohrson, C. L., Zhao, Y., Jin, H., Gulhan, D., Ganz, J., Bizzotto, S., Kirkham, S., et al. (2022) · Nature Genetics · doi:10.1038/s41588-022-01180-2 · Cited by 108

Clonal hematopoiesis, somatic mosaicism, and age-associated disease

Evans, M. A., & Walsh, K. X. (2022) · Physiological Reviews · doi:10.1152/physrev.00004.2022 · Cited by 112

Mutation and Human Exceptionalism: Our Future Genetic Load

Lynch, M. (2016) · Genetics · doi:10.1534/genetics.115.180471 · Cited by 114

Genomic mosaicism in the developing and adult brain

Rohrback, S., Siddoway, B. A., Liu, C. S., & Chun, J. J. M. (2018) · Developmental Neurobiology · doi:10.1002/dneu.22626 · Cited by 107

Neuron-specific methylome analysis reveals epigenetic regulation and tau-related dysfunction of BRCA1 in Alzheimer’s disease

Mano, T., Nagata, K., Nonaka, T., Tarutani, A., Imamura, T., Hashimoto, T., Bannai, T., Mano, K. K., Tsuchida, T., Ohtomo, R., et al. (2017) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.1707151114 · Cited by 105

Pharmacological reversal of synaptic and network pathology in human MECP2‐KO neurons and cortical organoids

Trujillo, C. A., Adams, J. W., Negraes, P. D., Carromeu, C., Tejwani, L., Acab, A., Tsuda, B., Thomas, C. A., Sodhi, N., Fichter, K. M., et al. (2021) · EMBO Molecular Medicine · doi:10.15252/emmm.202012523 · Cited by 101

Linked-read analysis identifies mutations in single-cell DNA-sequencing data

Bohrson, C. L., Barton, A. R., Lodato, M. A., Rodin, R. E., Luquette, L. J., Viswanadham, V., Gulhan, D., Cortés‐Ciriano, I., Sherman, M. A., Kwon, M., et al. (2019) · Nature Genetics · doi:10.1038/s41588-019-0366-2 · Cited by 102

Phylodynamics for cell biologists

Stadler, T., Pybus, O. G., & Stumpf, M. P. H. (2021) · Science · doi:10.1126/science.aah6266 · Cited by 91

Single-cell mutation identification via phylogenetic inference

Singer, J., Kuipers, J., Jahn, K., & Beerenwinkel, N. (2018) · Nature Communications · doi:10.1038/s41467-018-07627-7 · Cited by 92

The Impact of Environmental and Endogenous Damage on Somatic Mutation Load in Human Skin Fibroblasts

Saini, N., Roberts, S. A., Klimczak, L. J., Chan, K., Grimm, S. A., Dai, S., Fargo, D. C., Boyer, J. C., Kaufmann, W. K., Taylor, J. A., et al. (2016) · PLOS Genetics · doi:10.1371/journal.pgen.1006385 · Cited by 94

Genomics of Alzheimer’s disease implicates the innate and adaptive immune systems

Li, Y., Laws, S. M., Miles, L. A., Wiley, J. S., Huang, X., Masters, C. L., & Gu, B. J. (2021) · Cellular and Molecular Life Sciences · doi:10.1007/s00018-021-03986-5 · Cited by 96

CellTagging: combinatorial indexing to simultaneously map lineage and identity at single-cell resolution

Kong, W., Biddy, B. A., Kamimoto, K., Amrute, J., Butka, E. G., & Morris, S. A. (2020) · Nature Protocols · doi:10.1038/s41596-019-0247-2 · Cited by 95

Somatic Mutations in Single Neurons

Lee, S. (2017) · Scholarworks@UNIST (Ulsan National Institute of Science and Technology)

Science AMA Series: We are Mollie Woodworth and Michael Lodato (Harvard). We sequenced single neurons from normal human brain and found ~1700 mutations per neuron. We’re here to talk about these “somatPreprint

mutations, S., & AMAs, R. (2015) · doi:10.15200/winn.144404.46810

Individualized neuronal mutations in the human brain

Hines, P. J. (2015) · Science · doi:10.1126/science.350.6256.52-l

Cell lineage analysis in human brain using endogenous retroelements

Evrony, G. D., Lee, E., Mehta, B. K., Benjamini, Y., Johnson, R. M., Cai, X., Yang, L., Haseley, P., Lehmann, H. S., Park, P. J., et al. (2015) · Neuron · doi:10.1016/j.neuron.2014.12.028 · Cited by 269

Probing genomic diversity in neurons

Yates, D. M. (2012) · Nature reviews. Neuroscience · doi:10.1038/nrn3402