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Identification of rare-disease genes using blood transcriptome sequencing and large control cohorts.
Frésard L, Smail C, Ferraro NM, Teran NA, Li X, Smith KS, Bonner D, Kernohan KD, Marwaha S, Zappala Z, Balliu B, Davis JR, Liu B, Prybol CJ, Kohler JN, Zastrow DB, Reuter CM, Fisk DG, Grove ME, Davidson JM, Hartley T, Joshi R, Strober BJ, Utiramerur S; Undiagnosed Diseases Network; Care4Rare Canada Consortium; Lind L, Ingelsson E, Battle A, Bejerano G, Bernstein JA, Ashley EA, Boycott KM, Merker JD, Wheeler MT, Montgomery SB. Frésard L, et al. Among authors: bejerano g. Nat Med. 2019 Jun;25(6):911-919. doi: 10.1038/s41591-019-0457-8. Epub 2019 Jun 3. Nat Med. 2019. PMID: 31160820 Free PMC article.
WhichTF is functionally important in your open chromatin data?
Tanigawa Y, Dyer ES, Bejerano G. Tanigawa Y, et al. Among authors: bejerano g. PLoS Comput Biol. 2022 Aug 30;18(8):e1010378. doi: 10.1371/journal.pcbi.1010378. eCollection 2022 Aug. PLoS Comput Biol. 2022. PMID: 36040971 Free PMC article.
Human-specific loss of regulatory DNA and the evolution of human-specific traits.
McLean CY, Reno PL, Pollen AA, Bassan AI, Capellini TD, Guenther C, Indjeian VB, Lim X, Menke DB, Schaar BT, Wenger AM, Bejerano G, Kingsley DM. McLean CY, et al. Among authors: bejerano g. Nature. 2011 Mar 10;471(7337):216-9. doi: 10.1038/nature09774. Nature. 2011. PMID: 21390129 Free PMC article.
146 results