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Systematic analysis and prediction of genes associated with monogenic disorders on human chromosome X.
Leitão E, Schröder C, Parenti I, Dalle C, Rastetter A, Kühnel T, Kuechler A, Kaya S, Gérard B, Schaefer E, Nava C, Drouot N, Engel C, Piard J, Duban-Bedu B, Villard L, Stegmann APA, Vanhoutte EK, Verdonschot JAJ, Kaiser FJ, Tran Mau-Them F, Scala M, Striano P, Frints SGM, Argilli E, Sherr EH, Elder F, Buratti J, Keren B, Mignot C, Héron D, Mandel JL, Gecz J, Kalscheuer VM, Horsthemke B, Piton A, Depienne C. Leitão E, et al. Among authors: horsthemke b. Nat Commun. 2022 Nov 2;13(1):6570. doi: 10.1038/s41467-022-34264-y. Nat Commun. 2022. PMID: 36323681 Free PMC article.
Unstable TTTTA/TTTCA expansions in MARCH6 are associated with Familial Adult Myoclonic Epilepsy type 3.
Florian RT, Kraft F, Leitão E, Kaya S, Klebe S, Magnin E, van Rootselaar AF, Buratti J, Kühnel T, Schröder C, Giesselmann S, Tschernoster N, Altmueller J, Lamiral A, Keren B, Nava C, Bouteiller D, Forlani S, Jornea L, Kubica R, Ye T, Plassard D, Jost B, Meyer V, Deleuze JF, Delpu Y, Avarello MDM, Vijfhuizen LS, Rudolf G, Hirsch E, Kroes T, Reif PS, Rosenow F, Ganos C, Vidailhet M, Thivard L, Mathieu A, Bourgeron T, Kurth I, Rafehi H, Steenpass L, Horsthemke B; FAME consortium; LeGuern E, Klein KM, Labauge P, Bennett MF, Bahlo M, Gecz J, Corbett MA, Tijssen MAJ, van den Maagdenberg AMJM, Depienne C. Florian RT, et al. Among authors: horsthemke b. Nat Commun. 2019 Oct 29;10(1):4919. doi: 10.1038/s41467-019-12763-9. Nat Commun. 2019. PMID: 31664039 Free PMC article.
The adult phenotype of Schaaf-Yang syndrome.
Marbach F, Elgizouli M, Rech M, Beygo J, Erger F, Velmans C, Stumpel CTRM, Stegmann APA, Beck-Wödl S, Gillessen-Kaesbach G, Horsthemke B, Schaaf CP, Kuechler A. Marbach F, et al. Among authors: horsthemke b. Orphanet J Rare Dis. 2020 Oct 19;15(1):294. doi: 10.1186/s13023-020-01557-8. Orphanet J Rare Dis. 2020. PMID: 33076953 Free PMC article.
Evidence for correlations between BMI-associated SNPs and circRNAs.
Rajcsanyi LS, Diebels I, Pastoors L, Kanber D, Peters T, Volckmar AL, Zheng Y, Grosse M, Dieterich C, Hebebrand J, Kaiser FJ, Horsthemke B, Hinney A. Rajcsanyi LS, et al. Among authors: horsthemke b. Sci Rep. 2022 Jul 25;12(1):12643. doi: 10.1038/s41598-022-16495-7. Sci Rep. 2022. PMID: 35879369 Free PMC article.
Lasp1 regulates adherens junction dynamics and fibroblast transformation in destructive arthritis.
Beckmann D, Römer-Hillmann A, Krause A, Hansen U, Wehmeyer C, Intemann J, de Gorter DJJ, Dankbar B, Hillen J, Heitzmann M, Begemann I, Galic M, Weinhage T, Foell D, Ai R, Kremerskothen J, Kiener HP, Müller S, Kamradt T, Schröder C, Leitão E, Horsthemke B, Rosenstiel P, Nordström K, Gasparoni G, Gasparoni N, Walter J, Li N, Yang X, Chung HR, Pavenstädt H, Lindemann N, Schnittler HJ, Wang W, Firestein GS, Pap T, Korb-Pap A. Beckmann D, et al. Among authors: horsthemke b. Nat Commun. 2021 Jun 15;12(1):3624. doi: 10.1038/s41467-021-23706-8. Nat Commun. 2021. PMID: 34131132 Free PMC article.
292 results