This is a list of publications referencing any of the Brain Somatic Mosaicism Network grants. Publications are ordered by date where the most recent 20 are shown. See the ‘Search PubMed’ link below for a full list of publications in PubMed.


Price, AJ, Jaffe, AE, Weinberger, DR. Cortical cellular diversity and development in schizophrenia. Mol. Psychiatry. 2020; :. doi: 10.1038/s41380-020-0775-8. PubMed PMID:32404946 .

Wang, M, Wei, PC, Lim, CK, Gallina, IS, Marshall, S, Marchetto, MC et al.. Increased Neural Progenitor Proliferation in a hiPSC Model of Autism Induces Replication Stress-Associated Genome Instability. Cell Stem Cell. 2020;26 (2):221-233.e6. doi: 10.1016/j.stem.2019.12.013. PubMed PMID:32004479 PubMed Central PMC7175642.

Smith, RS, Walsh, CA. Ion Channel Functions in Early Brain Development. Trends Neurosci. 2020;43 (2):103-114. doi: 10.1016/j.tins.2019.12.004. PubMed PMID:31959360 PubMed Central PMC7092371.

Blake, LE, Roux, J, Hernando-Herraez, I, Banovich, NE, Perez, RG, Hsiao, CJ et al.. A comparison of gene expression and DNA methylation patterns across tissues and species. Genome Res. 2020;30 (2):250-262. doi: 10.1101/gr.254904.119. PubMed PMID:31953346 PubMed Central PMC7050529.

Dou, Y, Kwon, M, Rodin, RE, Cortés-Ciriano, I, Doan, R, Luquette, LJ et al.. Accurate detection of mosaic variants in sequencing data without matched controls. Nat. Biotechnol. 2020;38 (3):314-319. doi: 10.1038/s41587-019-0368-8. PubMed PMID:31907404 PubMed Central PMC7065972.

Breuss, MW, Antaki, D, George, RD, Kleiber, M, James, KN, Ball, LL et al.. Autism risk in offspring can be assessed through quantification of male sperm mosaicism. Nat. Med. 2020;26 (1):143-150. doi: 10.1038/s41591-019-0711-0. PubMed PMID:31873310 PubMed Central PMC7032648.

Zhou, W, Emery, SB, Flasch, DA, Wang, Y, Kwan, KY, Kidd, JM et al.. Identification and characterization of occult human-specific LINE-1 insertions using long-read sequencing technology. Nucleic Acids Res. 2020;48 (3):1146-1163. doi: 10.1093/nar/gkz1173. PubMed PMID:31853540 PubMed Central PMC7026601.

Welker, F, Ramos-Madrigal, J, Kuhlwilm, M, Liao, W, Gutenbrunner, P, de Manuel, M et al.. Enamel proteome shows that Gigantopithecus was an early diverging pongine. Nature. 2019;576 (7786):262-265. doi: 10.1038/s41586-019-1728-8. PubMed PMID:31723270 PubMed Central PMC6908745.

Lee, S, Chen, DY, Zaki, MS, Maroofian, R, Houlden, H, Di Donato, N et al.. Bi-allelic Loss of Human APC2, Encoding Adenomatous Polyposis Coli Protein 2, Leads to Lissencephaly, Subcortical Heterotopia, and Global Developmental Delay. Am. J. Hum. Genet. 2019;105 (4):844-853. doi: 10.1016/j.ajhg.2019.08.013. PubMed PMID:31585108 PubMed Central PMC6817548.

Lodato, MA, Walsh, CA. Genome aging: somatic mutation in the brain links age-related decline with disease and nominates pathogenic mechanisms. Hum. Mol. Genet. 2019;28 (R2):R197-R206. doi: 10.1093/hmg/ddz191. PubMed PMID:31578549 PubMed Central PMC6872434.

Moldovan, JB, Wang, Y, Shuman, S, Mills, RE, Moran, JV. RNA ligation precedes the retrotransposition of U6/LINE-1 chimeric RNA. Proc. Natl. Acad. Sci. U.S.A. 2019;116 (41):20612-20622. doi: 10.1073/pnas.1805404116. PubMed PMID:31548405 PubMed Central PMC6789731.

Luquette, LJ, Bohrson, CL, Sherman, MA, Park, PJ. Identification of somatic mutations in single cell DNA-seq using a spatial model of allelic imbalance. Nat Commun. 2019;10 (1):3908. doi: 10.1038/s41467-019-11857-8. PubMed PMID:31467286 PubMed Central PMC6715686.

Pelorosso, C, Watrin, F, Conti, V, Buhler, E, Gelot, A, Yang, X et al.. Somatic double-hit in MTOR and RPS6 in hemimegalencephaly with intractable epilepsy. Hum. Mol. Genet. 2019;28 (22):3755-3765. doi: 10.1093/hmg/ddz194. PubMed PMID:31411685 PubMed Central PMC6935386.

McCartney, AM, Hyland, EM, Cormican, P, Moran, RJ, Webb, AE, Lee, KD et al.. Gene Fusions Derived by Transcriptional Readthrough are Driven by Segmental Duplication in Human. Genome Biol Evol. 2019;11 (9):2678-2690. doi: 10.1093/gbe/evz163. PubMed PMID:31400206 PubMed Central PMC6764479.

Darby, CA, Fitch, JR, Brennan, PJ, Kelly, BJ, Bir, N, Magrini, V et al.. Samovar: Single-Sample Mosaic Single-Nucleotide Variant Calling with Linked Reads. iScience. 2019;18 :1-10. doi: 10.1016/j.isci.2019.05.037. PubMed PMID:31271967 PubMed Central PMC6609817.

Shi, L, Qalieh, A, Lam, MM, Keil, JM, Kwan, KY. Robust elimination of genome-damaged cells safeguards against brain somatic aneuploidy following Knl1 deletion. Nat Commun. 2019;10 (1):2588. doi: 10.1038/s41467-019-10411-w. PubMed PMID:31197172 PubMed Central PMC6565622.

Wang, M, Zhang, L, Gage, FH. Modeling neuropsychiatric disorders using human induced pluripotent stem cells. Protein Cell. 2020;11 (1):45-59. doi: 10.1007/s13238-019-0638-8. PubMed PMID:31134525 PubMed Central PMC6949328.

Fages, A, Hanghøj, K, Khan, N, Gaunitz, C, Seguin-Orlando, A, Leonardi, M et al.. Tracking Five Millennia of Horse Management with Extensive Ancient Genome Time Series. Cell. 2019;177 (6):1419-1435.e31. doi: 10.1016/j.cell.2019.03.049. PubMed PMID:31056281 PubMed Central PMC6547883.

Lorente-Galdos, B, Lao, O, Serra-Vidal, G, Santpere, G, Kuderna, LFK, Arauna, LR et al.. Whole-genome sequence analysis of a Pan African set of samples reveals archaic gene flow from an extinct basal population of modern humans into sub-Saharan populations. Genome Biol. 2019;20 (1):77. doi: 10.1186/s13059-019-1684-5. PubMed PMID:31023378 PubMed Central PMC6485163.

Flasch, DA, Macia, Á, Sánchez, L, Ljungman, M, Heras, SR, García-Pérez, JL et al.. Genome-wide de novo L1 Retrotransposition Connects Endonuclease Activity with Replication. Cell. 2019;177 (4):837-851.e28. doi: 10.1016/j.cell.2019.02.050. PubMed PMID:30955886 PubMed Central PMC6558663.

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