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Population analyses of mosaic X chromosome loss identify genetic drivers and widespread signatures of cellular selection.
Liu A, Genovese G, Zhao Y, Pirinen M, Zekavat MM, Kentistou K, Yang Z, Yu K, Vlasschaert C, Liu X, Brown DW, Hudjashov G, Gorman B, Dennis J, Zhou W, Momozawa Y, Pyarajan S, Tuzov V, Pajuste FD, Aavikko M, Sipilä TP, Ghazal A, Huang WY, Freedman N, Song L, Gardner EJ, Sankaran VG, Palotie A, Ollila HM, Tukiainen T, Chanock SJ, Mägi R, Natarajan P, Daly MJ, Bick A, McCarroll SA, Terao C, Loh PR, Ganna A, Perry JRB, Machiela MJ. Liu A, et al. Among authors: ollila hm. medRxiv [Preprint]. 2023 Jan 31:2023.01.28.23285140. doi: 10.1101/2023.01.28.23285140. medRxiv. 2023. PMID: 36778285 Free PMC article. Preprint.
Kleine-Levin syndrome is associated with birth difficulties and genetic variants in the TRANK1 gene loci.
Ambati A, Hillary R, Leu-Semenescu S, Ollila HM, Lin L, During EH, Farber N, Rico TJ, Faraco J, Leary E, Goldstein-Piekarski AN, Huang YS, Han F, Sivan Y, Lecendreux M, Dodet P, Honda M, Gadoth N, Nevsimalova S, Pizza F, Kanbayashi T, Peraita-Adrados R, Leschziner GD, Hasan R, Canellas F, Kume K, Daniilidou M, Bourgin P, Rye D, Vicario JL, Hogl B, Hong SC, Plazzi G, Mayer G, Landtblom AM, Dauvilliers Y, Arnulf I, Mignot EJ. Ambati A, et al. Among authors: ollila hm. Proc Natl Acad Sci U S A. 2021 Mar 23;118(12):e2005753118. doi: 10.1073/pnas.2005753118. Proc Natl Acad Sci U S A. 2021. PMID: 33737391 Free PMC article.
Narcolepsy.
Kornum BR, Knudsen S, Ollila HM, Pizza F, Jennum PJ, Dauvilliers Y, Overeem S. Kornum BR, et al. Among authors: ollila hm. Nat Rev Dis Primers. 2017 Feb 9;3:16100. doi: 10.1038/nrdp.2016.100. Nat Rev Dis Primers. 2017. PMID: 28179647 Review.
83 results