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High incidence and geographic distribution of cleft palate in Finland are associated with the IRF6 gene.
Rahimov F, Nieminen P, Kumari P, Juuri E, Nikopensius T, Paraiso K, German J, Karvanen A, Kals M, Elnahas AG, Karjalainen J, Kurki M, Palotie A; FinnGen; Estonian Biobank Research Team; Heliövaara A, Esko T, Jukarainen S, Palta P, Ganna A, Patni AP, Mar D, Bomsztyk K, Mathieu J, Ruohola-Baker H, Visel A, Fakhouri WD, Schutte BC, Cornell RA, Rice DP. Rahimov F, et al. Among authors: cornell ra. Nat Commun. 2024 Nov 6;15(1):9568. doi: 10.1038/s41467-024-53634-2. Nat Commun. 2024. PMID: 39500877 Free PMC article.
High incidence and geographic distribution of cleft palate cases in Finland are associated with a regulatory variant in IRF6.
Rahimov F, Nieminen P, Kumari P, Juuri E, Nikopensius T, Paraiso K, German J, Karvanen A, Kals M, Elnahas AG, Karjalainen J, Kurki M, Palotie A; FinnGen, Estonian Biobank Research Team; Heliövaara A, Esko T, Jukarainen S, Palta P, Ganna A, Patni AP, Mar D, Bomsztyk K, Mathieu J, Ruohola-Baker H, Visel A, Fakhouri WD, Schutte BC, Cornell RA, Rice DP. Rahimov F, et al. Among authors: cornell ra. medRxiv [Preprint]. 2024 Jul 10:2024.07.09.24310146. doi: 10.1101/2024.07.09.24310146. medRxiv. 2024. PMID: 39040165 Free PMC article. Preprint.
An MITF- and mTOR-dependent FLCN pathway suppresses TFE3-driven metastasis in melanoma.
Chang J, Campbell-Hanson KR, Vanneste M, Yevdash J, Bartschat NI, Jiang J, Bhinu A, Helverson A, Henry MD, Steingrímsson E, Weigel RJ, Cornell RA, Kenny C. Chang J, et al. Among authors: cornell ra. bioRxiv [Preprint]. 2024 Jul 12:2024.07.11.603140. doi: 10.1101/2024.07.11.603140. bioRxiv. 2024. PMID: 39026725 Free PMC article. Preprint.
Genome-wide analysis of copy-number variation in humans with cleft lip and/or cleft palate identifies COBLL1, RIC1, and ARHGEF38 as clefting genes.
Lansdon LA, Dickinson A, Arlis S, Liu H, Hlas A, Hahn A, Bonde G, Long A, Standley J, Tyryshkina A, Wehby G, Lee NR, Daack-Hirsch S, Mohlke K, Girirajan S, Darbro BW, Cornell RA, Houston DW, Murray JC, Manak JR. Lansdon LA, et al. Among authors: cornell ra. Am J Hum Genet. 2023 Jan 5;110(1):71-91. doi: 10.1016/j.ajhg.2022.11.012. Epub 2022 Dec 8. Am J Hum Genet. 2023. PMID: 36493769 Free PMC article.
62 results