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A framework for N-of-1 trials of individualized gene-targeted therapies for genetic diseases.
Kim-McManus O, Gleeson JG, Mignon L, Smith Fine A, Yan W, Nolen N, Demarest S, Berry-Kravis E, Finkel R, Leonard S, Finlayson S, Augustine E, Lyon GJ, Schule R, Yu T. Kim-McManus O, et al. Among authors: lyon gj. Nat Commun. 2024 Nov 12;15(1):9802. doi: 10.1038/s41467-024-54077-5. Nat Commun. 2024. PMID: 39532857 Free PMC article. Review.
Genome-Wide Association Study Meta-Analysis of 9619 Cases With Tic Disorders.
Strom NI, Halvorsen MW, Grove J, Ásbjörnsdóttir B, Luðvígsson P, Thorarensen Ó, de Schipper E, Bäckmann J, Andrén P, Tian C; PGC TS Working Group; 23andMe Research Team; Als TD, Nissen JB, Meier SM, Bybjerg-Grauholm J, Hougaard DM, Werge T, Børglum AD, Hinds DA, Rück C, Mataix-Cols D, Stefánsson H, Stefansson K, Crowley JJ, Mattheisen M. Strom NI, et al. Biol Psychiatry. 2024 Oct 9:S0006-3223(24)01648-2. doi: 10.1016/j.biopsych.2024.07.025. Online ahead of print. Biol Psychiatry. 2024. PMID: 39389409 Free article.
A repository of Ogden syndrome patient derived iPSC lines and isogenic pairs by X-chromosome screening and genome-editing.
Wesely J, Rusielewicz T, Chen YR, Hartley B, McKenzie D, Yim MK, Maguire C, Bia R, Franklin S, Makwana R, Marchi E, Nikte M, Patil S, Sapar M, Moroziewicz D; NYSCF Global Stem Cell Array® Team; Bauer L, Lee JT, Monsma FJ Jr, Paull D, Lyon GJ. Wesely J, et al. Among authors: lyon gj. bioRxiv [Preprint]. 2024 Sep 28:2024.09.28.615067. doi: 10.1101/2024.09.28.615067. bioRxiv. 2024. PMID: 39386428 Free PMC article. Preprint.
GestaltMatcher Database - A global reference for facial phenotypic variability in rare human diseases.
Lesmann H, Hustinx A, Moosa S, Klinkhammer H, Marchi E, Caro P, Abdelrazek IM, Pantel JT, Hagen MT, Thong MK, Binti Mazlan RA, Tae SK, Kamphans T, Meiswinkel W, Li JM, Javanmardi B, Knaus A, Uwineza A, Knopp C, Tkemaladze T, Elbracht M, Mattern L, Jamra RA, Velmans C, Strehlow V, Jacob M, Peron A, Dias C, Nunes BC, Vilella T, Pinheiro IF, Kim CA, Melaragno MI, Weiland H, Kaptain S, Chwiałkowska K, Kwasniewski M, Saad R, Wiethoff S, Goel H, Tang C, Hau A, Barakat TS, Panek P, Nabil A, Suh J, Braun F, Gomy I, Averdunk L, Ekure E, Bergant G, Peterlin B, Graziano C, Gaboon N, Fiesco-Roa M, Spinelli AM, Wilpert NM, Phowthongkum P, Güzel N, Haack TB, Bitar R, Tzschach A, Rodriguez-Palmero A, Brunet T, Rudnik-Schöneborn S, Contreras-Capetillo SN, Oberlack A, Samango-Sprouse C, Sadeghin T, Olaya M, Platzer K, Borovikov A, Schnabel F, Heuft L, Herrmann V, Oegema R, Elkhateeb N, Kumar S, Komlosi K, Mohamed K, Kalantari S, Sirchia F, Martinez-Monseny AF, Höller M, Toutouna L, Mohamed A, Lasa-Aranzasti A, Sayer JA, Ehmke N, Danyel M, Sczakiel H, Schwartzmann S, Boschann F, Zhao M, Adam R, Einicke L, Horn D, Chew KS, Kam CC, Karakoyun M, Pode-Shakked B, Eliyahu A, Rock R, Carrion T, Chorin O, … See abstract for full author list ➔ Lesmann H, et al. Among authors: lyon gj. Res Sq [Preprint]. 2024 Jun 10:rs.3.rs-4438861. doi: 10.21203/rs.3.rs-4438861/v1. Res Sq. 2024. PMID: 38903062 Free PMC article. Preprint.
111 results