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2016 3
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2020 6
2021 2
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2023 1
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Page 1
Heterozygous Variants in KMT2E Cause a Spectrum of Neurodevelopmental Disorders and Epilepsy.
O'Donnell-Luria AH, Pais LS, Faundes V, Wood JC, Sveden A, Luria V, Abou Jamra R, Accogli A, Amburgey K, Anderlid BM, Azzarello-Burri S, Basinger AA, Bianchini C, Bird LM, Buchert R, Carre W, Ceulemans S, Charles P, Cox H, Culliton L, Currò A; Deciphering Developmental Disorders (DDD) Study; Demurger F, Dowling JJ, Duban-Bedu B, Dubourg C, Eiset SE, Escobar LF, Ferrarini A, Haack TB, Hashim M, Heide S, Helbig KL, Helbig I, Heredia R, Héron D, Isidor B, Jonasson AR, Joset P, Keren B, Kok F, Kroes HY, Lavillaureix A, Lu X, Maas SM, Maegawa GHB, Marcelis CLM, Mark PR, Masruha MR, McLaughlin HM, McWalter K, Melchinger EU, Mercimek-Andrews S, Nava C, Pendziwiat M, Person R, Ramelli GP, Ramos LLP, Rauch A, Reavey C, Renieri A, Rieß A, Sanchez-Valle A, Sattar S, Saunders C, Schwarz N, Smol T, Srour M, Steindl K, Syrbe S, Taylor JC, Telegrafi A, Thiffault I, Trauner DA, van der Linden H Jr, van Koningsbruggen S, Villard L, Vogel I, Vogt J, Weber YG, Wentzensen IM, Widjaja E, Zak J, Baxter S, Banka S, Rodan LH. O'Donnell-Luria AH, et al. Am J Hum Genet. 2019 Jun 6;104(6):1210-1222. doi: 10.1016/j.ajhg.2019.03.021. Epub 2019 May 9. Am J Hum Genet. 2019. PMID: 31079897 Free PMC article.
Noncanonical open reading frames encode functional proteins essential for cancer cell survival.
Prensner JR, Enache OM, Luria V, Krug K, Clauser KR, Dempster JM, Karger A, Wang L, Stumbraite K, Wang VM, Botta G, Lyons NJ, Goodale A, Kalani Z, Fritchman B, Brown A, Alan D, Green T, Yang X, Jaffe JD, Roth JA, Piccioni F, Kirschner MW, Ji Z, Root DE, Golub TR. Prensner JR, et al. Nat Biotechnol. 2021 Jun;39(6):697-704. doi: 10.1038/s41587-020-00806-2. Epub 2021 Jan 28. Nat Biotechnol. 2021. PMID: 33510483 Free PMC article.
Hippo pathway mediates resistance to cytotoxic drugs.
Gujral TS, Kirschner MW. Gujral TS, et al. Proc Natl Acad Sci U S A. 2017 May 2;114(18):E3729-E3738. doi: 10.1073/pnas.1703096114. Epub 2017 Apr 17. Proc Natl Acad Sci U S A. 2017. PMID: 28416665 Free PMC article.
The whale shark genome reveals how genomic and physiological properties scale with body size.
Weber JA, Park SG, Luria V, Jeon S, Kim HM, Jeon Y, Bhak Y, Jun JH, Kim SW, Hong WH, Lee S, Cho YS, Karger A, Cain JW, Manica A, Kim S, Kim JH, Edwards JS, Bhak J, Church GM. Weber JA, et al. Proc Natl Acad Sci U S A. 2020 Aug 25;117(34):20662-20671. doi: 10.1073/pnas.1922576117. Epub 2020 Aug 4. Proc Natl Acad Sci U S A. 2020. PMID: 32753383 Free PMC article.
Amyloid-like Self-Assembly of a Cellular Compartment.
Boke E, Ruer M, Wühr M, Coughlin M, Lemaitre R, Gygi SP, Alberti S, Drechsel D, Hyman AA, Mitchison TJ. Boke E, et al. Cell. 2016 Jul 28;166(3):637-650. doi: 10.1016/j.cell.2016.06.051. Cell. 2016. PMID: 27471966 Free PMC article.
20 results