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.


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; :. doi: 10.1038/s41587-019-0368-8. PubMed PMID:31907404 .

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 .

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.

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.

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.

Bohrson, CL, Barton, AR, Lodato, MA, Rodin, RE, Luquette, LJ, Viswanadham, VV et al.. Linked-read analysis identifies mutations in single-cell DNA-sequencing data. Nat. Genet. 2019;51 (4):749-754. doi: 10.1038/s41588-019-0366-2. PubMed PMID:30886424 .

Han, S, Andrés, AM, Marques-Bonet, T, Kuhlwilm, M. Genetic Variation in Pan Species Is Shaped by Demographic History and Harbors Lineage-Specific Functions. Genome Biol Evol. 2019;11 (4):1178-1191. doi: 10.1093/gbe/evz047. PubMed PMID:30847478 PubMed Central PMC6482415.

Sharim, H, Grunwald, A, Gabrieli, T, Michaeli, Y, Margalit, S, Torchinsky, D et al.. Long-read single-molecule maps of the functional methylome. Genome Res. 2019;29 (4):646-656. doi: 10.1101/gr.240739.118. PubMed PMID:30846530 PubMed Central PMC6442387.

Owens, GC, Garcia, AJ, Mochizuki, AY, Chang, JW, Reyes, SD, Salamon, N et al.. Evidence for Innate and Adaptive Immune Responses in a Cohort of Intractable Pediatric Epilepsy Surgery Patients. Front Immunol. 2019;10 :121. doi: 10.3389/fimmu.2019.00121. PubMed PMID:30761153 PubMed Central PMC6362260.

Chronister, WD, Burbulis, IE, Wierman, MB, Wolpert, MJ, Haakenson, MF, Smith, ACB et al.. Neurons with Complex Karyotypes Are Rare in Aged Human Neocortex. Cell Rep. 2019;26 (4):825-835.e7. doi: 10.1016/j.celrep.2018.12.107. PubMed PMID:30673605 PubMed Central PMC6942668.

Feng, S, Fang, Q, Barnett, R, Li, C, Han, S, Kuhlwilm, M et al.. The Genomic Footprints of the Fall and Recovery of the Crested Ibis. Curr. Biol. 2019;29 (2):340-349.e7. doi: 10.1016/j.cub.2018.12.008. PubMed PMID:30639104 PubMed Central PMC6345625.

Kuderna, LFK, Lizano, E, Julià, E, Gomez-Garrido, J, Serres-Armero, A, Kuhlwilm, M et al.. Selective single molecule sequencing and assembly of a human Y chromosome of African origin. Nat Commun. 2019;10 (1):4. doi: 10.1038/s41467-018-07885-5. PubMed PMID:30602775 PubMed Central PMC6315018.

van der Valk, T, Díez-Del-Molino, D, Marques-Bonet, T, Guschanski, K, Dalén, L. Historical Genomes Reveal the Genomic Consequences of Recent Population Decline in Eastern Gorillas. Curr. Biol. 2019;29 (1):165-170.e6. doi: 10.1016/j.cub.2018.11.055. PubMed PMID:30595519 .

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