A genomic view of mosaicism and human disease

Epigenetic differences arise during the lifetime of monozygotic twins

Fraga, M. F., Ballestar, E., Paz, M. F., Ropero, S., Setien, F., Ballestar, M. L., Heine-Suñer, D., Cigudosa, J. C., Urioste, M., Benitez, J., et al. (2005) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.0500398102 · Cited by 3,602

Strong association of de novo copy number mutations with autism

Sebat, J., Lakshmi, B., Malhotra, D., Troge, J., Lese-Martin, C., Walsh, T., Yamrom, B., Yoon, S., Krasnitz, A., Kendall, J., et al. (2007) · Science · doi:10.1126/science.1138659 · Cited by 2,795

Structural Variation of Chromosomes in Autism Spectrum Disorder

Marshall, C. R., Noor, A., Vincent, J. B., Lionel, A. C., Feuk, L., Skaug, J., Shago, M., Moessner, R., Pinto, D., Ren, Y., et al. (2008) · The American Journal of Human Genetics · doi:10.1016/j.ajhg.2007.12.009 · Cited by 1,815

De novo germline and postzygotic mutations in AKT3, PIK3R2 and PIK3CA cause a spectrum of related megalencephaly syndromes

Finding of Rare Disease Genes (FORGE) Canada Consortium, Rivière, J.-B., Mirzaa, G. M., O'Roak, B. J., Beddaoui, M., Alcantara, D., Conway, R. L., St-Onge, J., Schwartzentruber, J. A., Gripp, K. W., et al. (2012) · Nature Genetics · doi:10.1038/ng.2331 · Cited by 741

Somatic Mutations in UBA1 and Severe Adult-Onset Autoinflammatory Disease

Beck, D. B., Ferrada, M. A., Sikora, K. A., Ombrello, A. K., Collins, J. C., Pei, W., Balanda, N., Ross, D. L., Ospina Cardona, D., Wu, Z., et al. (2020) · New England Journal of Medicine · doi:10.1056/nejmoa2026834 · Cited by 1,206

Genome sequencing identifies major causes of severe intellectual disability

Gilissen, C., Hehir-Kwa, J. Y., Thung, D. T., van de Vorst, M., van Bon, B. W. M., Willemsen, M. H., Kwint, M., Janssen, I. M., Hoischen, A., Schenck, A., et al. (2014) · Nature · doi:10.1038/nature13394 · Cited by 1,125

Towards precision medicine

Ashley, E. A. (2016) · Nature Reviews Genetics · doi:10.1038/nrg.2016.86 · Cited by 1,116

Revealing the vectors of cellular identity with single-cell genomics

Wagner, A., Regev, A., & Yosef, N. (2016) · Nature Biotechnology · doi:10.1038/nbt.3711 · Cited by 632

Design and Analysis of Single-Cell Sequencing Experiments

Grün, D., & van Oudenaarden, A. (2015) · Cell · doi:10.1016/j.cell.2015.10.039 · Cited by 536

Single-cell multiomics: multiple measurements from single cells

Macaulay, I. C., Ponting, C. P., & Voet, T. (2017) · Trends in Genetics · doi:10.1016/j.tig.2016.12.003 · Cited by 451

Somatic mutations in cerebral cortical malformations

Jamuar, S. S., Lam, A.-T. N., Kircher, M., D’Gama, A. M., Wang, J., Barry, B. J., Zhang, X., Hill, R. S., Partlow, J. N., Rozzo, A., et al. (2014) · New England Journal of Medicine · doi:10.1056/nejmoa1314432 · Cited by 392

Single Cell Genomics: Advances and Future Perspectives

Macaulay, I. C., & Voet, T. (2014) · PLoS Genetics · doi:10.1371/journal.pgen.1004126 · Cited by 384

PI3K/AKT pathway mutations cause a spectrum of brain malformations from megalencephaly to focal cortical dysplasia

Jansen, L. A., Mirzaa, G. M., Ishak, G. E., O'Roak, B. J., Hiatt, J. B., Roden, W. H., Gunter, S. A., Christian, S. L., Collins, S., Adams, C., et al. (2015) · Brain · doi:10.1093/brain/awv045 · Cited by 364

Single-cell, genome-wide sequencing identifies clonal somatic copy-number variation in the human brain

Cai, X., Evrony, G. D., Lehmann, H. S., Elhosary, P. C., Mehta, B. K., Poduri, A., & Walsh, C. A. (2014) · Cell Reports · doi:10.1016/j.celrep.2014.07.043 · Cited by 318

Mosaicism in Preimplantation Human Embryos: When Chromosomal Abnormalities Are the Norm

McCoy, R. C. (2017) · Trends in Genetics · doi:10.1016/j.tig.2017.04.001 · Cited by 235

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

Brain somatic mutations observed in Alzheimer’s disease associated with aging and dysregulation of tau phosphorylation

Park, J. S., Lee, J., Jung, E. S., Kim, M.-H., Kim, I. B., Son, H., Kim, S., Kim, S., Park, Y. M., Mook-Jung, I., et al. (2019) · Nature Communications · doi:10.1038/s41467-019-11000-7 · Cited by 155

Somatic Mutagenesis in Mammals and Its Implications for Human Disease and Aging

Zhang, L., & Vijg, J. (2018) · Annual Review of Genetics · doi:10.1146/annurev-genet-120417-031501 · Cited by 108

On the identification of low allele frequency mosaic mutations in the brains of Alzheimer’s disease patients

Sala Frigerio, C., Lau, P., Troakes, C., Deramecourt, V., Gele, P., Van Loo, P., Voet, T., & De Strooper, B. (2015) · Alzheimer's & Dementia · doi:10.1016/j.jalz.2015.02.007 · Cited by 71

Low-grade chromosomal mosaicism in human somatic and embryonic stem cell populations

Jacobs, K., Mertzanidou, A., Geens, M., Thi Nguyen, H., Staessen, C., & Spits, C. (2014) · Nature Communications · doi:10.1038/ncomms5227 · Cited by 41