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Page 1
Variant-specific pathophysiological mechanisms of AFF3 differently influence transcriptome profiles.
Bassani S, Chrast J, Ambrosini G, Voisin N, Schütz F, Brusco A, Sirchia F, Turban L, Schubert S, Jamra RA, Schlump JU, DeMille D, Bayrak-Toydemir P, Nelson GR, Wong KN, Duncan L, Mosera M, Gilissen C, Vissers LELM, Pfundt R, Kersseboom R, Yttervik H, Hansen GÅM, Falkenberg Smeland M, Butler KM, Lyons MJ, Carvalho CMB, Zhang C, Lupski JR, Potocki L, Flores-Gallegos L, Morales-Toquero R, Petit F, Yalcin B, Tuttle A, Elloumi HZ, Mccormick L, Kukolich M, Klaas O, Horvath J, Scala M, Iacomino M, Operto F, Zara F, Writzl K, Maver A, Haanpää MK, Pohjola P, Arikka H, Iseli C, Guex N, Reymond A. Bassani S, et al. Among authors: horvath j. medRxiv [Preprint]. 2024 Jan 17:2024.01.14.24301100. doi: 10.1101/2024.01.14.24301100. medRxiv. 2024. Update in: Genome Med. 2024 May 30;16(1):72. doi: 10.1186/s13073-024-01339-y PMID: 38293053 Free PMC article. Updated. Preprint.
Variant-specific pathophysiological mechanisms of AFF3 differently influence transcriptome profiles.
Bassani S, Chrast J, Ambrosini G, Voisin N, Schütz F, Brusco A, Sirchia F, Turban L, Schubert S, Abou Jamra R, Schlump JU, DeMille D, Bayrak-Toydemir P, Nelson GR, Wong KN, Duncan L, Mosera M, Gilissen C, Vissers LELM, Pfundt R, Kersseboom R, Yttervik H, Hansen GÅM, Smeland MF, Butler KM, Lyons MJ, Carvalho CMB, Zhang C, Lupski JR, Potocki L, Flores-Gallegos L, Morales-Toquero R, Petit F, Yalcin B, Tuttle A, Elloumi HZ, McCormick L, Kukolich M, Klaas O, Horvath J, Scala M, Iacomino M, Operto F, Zara F, Writzl K, Maver A, Haanpää MK, Pohjola P, Arikka H, Kievit AJA, Calandrini C, Iseli C, Guex N, Reymond A. Bassani S, et al. Among authors: horvath j. Genome Med. 2024 May 30;16(1):72. doi: 10.1186/s13073-024-01339-y. Genome Med. 2024. PMID: 38811945 Free PMC article.
Clustered de novo start-loss variants in GLUL result in a developmental and epileptic encephalopathy via stabilization of glutamine synthetase.
Jones AG, Aquilino M, Tinker RJ, Duncan L, Jenkins Z, Carvill GL, DeWard SJ, Grange DK, Hajianpour MJ, Halliday BJ, Holder-Espinasse M, Horvath J, Maitz S, Nigro V, Morleo M, Paul V, Spencer C, Esterhuizen AI, Polster T, Spano A, Gómez-Lozano I, Kumar A, Poke G, Phillips JA 3rd, Underhill HR, Gimenez G, Namba T, Robertson SP. Jones AG, et al. Among authors: horvath j. Am J Hum Genet. 2024 Apr 4;111(4):729-741. doi: 10.1016/j.ajhg.2024.03.005. Am J Hum Genet. 2024. PMID: 38579670 Free PMC article.
Biallelic USP14 variants cause a syndromic neurodevelopmental disorder.
Ebstein F, Latypova X, Sharon Hung KY, Prado MA, Lee BH, Möller S, Wendlandt M, Zieba BA, Florenceau L, Vignard V, Poirier L, Toutain B, Moroni I, Dubucs C, Chassaing N, Horvath J, Prokisch H, Küry S, Bézieau S, Paulo JA, Finley D, Krüger E, Ghezzi D, Isidor B. Ebstein F, et al. Among authors: horvath j. Genet Med. 2024 Jun;26(6):101120. doi: 10.1016/j.gim.2024.101120. Epub 2024 Mar 10. Genet Med. 2024. PMID: 38469793 Free PMC article.
Estimating realized relatedness in free-ranging macaques by inferring identity-by-descent segments.
Freudiger A, Jovanovic VM, Huang Y, Snyder-Mackler N, Conrad DF, Miller B, Montague MJ, Westphal H, Stadler PF, Bley S, Horvath JE, Brent LJN, Platt ML, Ruiz-Lambides A, Tung J, Nowick K, Ringbauer H, Widdig A. Freudiger A, et al. Among authors: horvath je. Proc Natl Acad Sci U S A. 2025 Jan 21;122(3):e2401106122. doi: 10.1073/pnas.2401106122. Epub 2025 Jan 14. Proc Natl Acad Sci U S A. 2025. PMID: 39808663
Ecological and anthropogenic effects on the genomic diversity of lemurs in Madagascar.
Orkin JD, Kuderna LFK, Hermosilla-Albala N, Fontsere C, Aylward ML, Janiak MC, Andriaholinirina N, Balaresque P, Blair ME, Fausser JL, Gut IG, Gut M, Hahn MW, Harris RA, Horvath JE, Keyser C, Kitchener AC, Le MD, Lizano E, Merker S, Nadler T, Perry GH, Rabarivola CJ, Rasmussen L, Raveendran M, Roos C, Wu DD, Zaramody A, Zhang G, Zinner D, Pozzi L, Rogers J, Farh KK, Marques Bonet T. Orkin JD, et al. Among authors: horvath je. Nat Ecol Evol. 2025 Jan;9(1):42-56. doi: 10.1038/s41559-024-02596-1. Epub 2024 Dec 27. Nat Ecol Evol. 2025. PMID: 39730835
Catalytic inhibition of KAT6/KAT7 enhances the efficacy and overcomes primary and acquired resistance to Menin inhibitors in MLL leukaemia.
Gordon SJV, Perner F, MacPherson L, Wenge DV, Bourgeois W, Fennell K, Klaus T, Petrovic J, Horvath J, Cao J, Lapek J, Uryu S, White J, Lam EYN, Mu XJ, Chan YC, Gillespie A, Blyth B, Camerino MA, Bozikis YE, Holze H, Knezevic K, Balic J, Stupple PA, Street IP, Monahan BJ, Sharma S, Wainwright EN, Vassiliadis D, Paul TA, Armstrong SA, Dawson MA. Gordon SJV, et al. Among authors: horvath j. bioRxiv [Preprint]. 2024 Dec 12:2024.12.11.627663. doi: 10.1101/2024.12.11.627663. bioRxiv. 2024. PMID: 39713447 Free PMC article. Preprint.
Seven versus 14 days of antimicrobial therapy for severe multidrug-resistant Gram-negative bacterial infections in intensive care unit patients (OPTIMISE): a randomised, open-label, non-inferiority clinical trial.
Arns B, Kalil AC, Sorio GGL, Boschi E, Antonio ACP, Antonio JP, Birriel DC, Lanziotti DH, da Cunha Abbott F, Rocha GC, de Fátima Fernandes V, de Souza Dantas VC, da Silva Medeiros GF, de França Diniz Rocha V, Pereira FC, Gobatto ALN, Lima VP, Lacerda FH, de Maio Carrilho CMD, de Oliveira Cardozo KDN, Irineu VM, Kurtz P, Horvath JDC, Sesin GP, Agani CAJO, Dos Santos TM, Brochier LSB, da Rosa BS, Tomazini BM, Besen BAMP, Pereira AJ, Veiga VC, Nascimento GM, Zavascki AP; OPTIMISE Study Group. Arns B, et al. Among authors: horvath jdc. Crit Care. 2024 Dec 18;28(1):412. doi: 10.1186/s13054-024-05178-6. Crit Care. 2024. PMID: 39695798 Free PMC article. Clinical Trial.
804 results