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Genetic variation in human DNA replication timing.
Koren A, Handsaker RE, Kamitaki N, Karlić R, Ghosh S, Polak P, Eggan K, McCarroll SA. Koren A, et al. Among authors: eggan k. Cell. 2014 Nov 20;159(5):1015-1026. doi: 10.1016/j.cell.2014.10.025. Epub 2014 Nov 13. Cell. 2014. PMID: 25416942 Free PMC article.
Pathways disrupted in human ALS motor neurons identified through genetic correction of mutant SOD1.
Kiskinis E, Sandoe J, Williams LA, Boulting GL, Moccia R, Wainger BJ, Han S, Peng T, Thams S, Mikkilineni S, Mellin C, Merkle FT, Davis-Dusenbery BN, Ziller M, Oakley D, Ichida J, Di Costanzo S, Atwater N, Maeder ML, Goodwin MJ, Nemesh J, Handsaker RE, Paull D, Noggle S, McCarroll SA, Joung JK, Woolf CJ, Brown RH, Eggan K. Kiskinis E, et al. Among authors: eggan k. Cell Stem Cell. 2014 Jun 5;14(6):781-95. doi: 10.1016/j.stem.2014.03.004. Epub 2014 Apr 3. Cell Stem Cell. 2014. PMID: 24704492 Free PMC article.
Loss-of-function mutations in the C9ORF72 mouse ortholog cause fatal autoimmune disease.
Burberry A, Suzuki N, Wang JY, Moccia R, Mordes DA, Stewart MH, Suzuki-Uematsu S, Ghosh S, Singh A, Merkle FT, Koszka K, Li QZ, Zon L, Rossi DJ, Trowbridge JJ, Notarangelo LD, Eggan K. Burberry A, et al. Among authors: eggan k. Sci Transl Med. 2016 Jul 13;8(347):347ra93. doi: 10.1126/scitranslmed.aaf6038. Sci Transl Med. 2016. PMID: 27412785 Free PMC article.
Human pluripotent stem cells recurrently acquire and expand dominant negative P53 mutations.
Merkle FT, Ghosh S, Kamitaki N, Mitchell J, Avior Y, Mello C, Kashin S, Mekhoubad S, Ilic D, Charlton M, Saphier G, Handsaker RE, Genovese G, Bar S, Benvenisty N, McCarroll SA, Eggan K. Merkle FT, et al. Among authors: eggan k. Nature. 2017 May 11;545(7653):229-233. doi: 10.1038/nature22312. Epub 2017 Apr 26. Nature. 2017. PMID: 28445466 Free PMC article.
Whole genome sequencing in psychiatric disorders: the WGSPD consortium.
Sanders SJ, Neale BM, Huang H, Werling DM, An JY, Dong S; Whole Genome Sequencing for Psychiatric Disorders (WGSPD); Abecasis G, Arguello PA, Blangero J, Boehnke M, Daly MJ, Eggan K, Geschwind DH, Glahn DC, Goldstein DB, Gur RE, Handsaker RE, McCarroll SA, Ophoff RA, Palotie A, Pato CN, Sabatti C, State MW, Willsey AJ, Hyman SE, Addington AM, Lehner T, Freimer NB. Sanders SJ, et al. Among authors: eggan k. Nat Neurosci. 2017 Dec;20(12):1661-1668. doi: 10.1038/s41593-017-0017-9. Nat Neurosci. 2017. PMID: 29184211 Free PMC article. Review.
162 results