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249 results

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Page 1
Pathogenic variants in KMT2C result in a neurodevelopmental disorder distinct from Kleefstra and Kabuki syndromes.
Rots D, Choufani S, Faundes V, Dingemans AJM, Joss S, Foulds N, Jones EA, Stewart S, Vasudevan P, Dabir T, Park SM, Jewell R, Brown N, Pais L, Jacquemont S, Jizi K, Ravenswaaij-Arts CMAV, Kroes HY, Stumpel CTRM, Ockeloen CW, Diets IJ, Nizon M, Vincent M, Cogné B, Besnard T, Kambouris M, Anderson E, Zackai EH, McDougall C, Donoghue S, O'Donnell-Luria A, Valivullah Z, O'Leary M, Srivastava S, Byers H, Leslie N, Mazzola S, Tiller GE, Vera M, Shen JJ, Boles R, Jain V, Brischoux-Boucher E, Kinning E, Simpson BN, Giltay JC, Harris J, Keren B, Guimier A, Marijon P, Vries BBA, Motter CS, Mendelsohn BA, Coffino S, Gerkes EH, Afenjar A, Visconti P, Bacchelli E, Maestrini E, Delahaye-Duriez A, Gooch C, Hendriks Y, Adams H, Thauvin-Robinet C, Josephi-Taylor S, Bertoli M, Parker MJ, Rutten JW, Caluseriu O, Vernon HJ, Kaziyev J, Zhu J, Kremen J, Frazier Z, Osika H, Breault D, Nair S, Lewis SME, Ceroni F, Viggiano M, Posar A, Brittain H, Giovanna T, Giulia G, Quteineh L, Ha-Vinh Leuchter R, Zonneveld-Huijssoon E, Mellado C, Marey I, Coudert A, Aracena Alvarez MI, Kennis MGP, Bouman A, Roifman M, Amorós Rodríguez MI, Ortigoza-Escobar JD, Vernimmen V, Sinnema M, Pfundt R, Brunner HG, Visser… See abstract for full author list ➔ Rots D, et al. Among authors: vernon hj. Am J Hum Genet. 2024 Aug 8;111(8):1626-1642. doi: 10.1016/j.ajhg.2024.06.009. Epub 2024 Jul 15. Am J Hum Genet. 2024. PMID: 39013459
Stem cell models of TAFAZZIN deficiency reveal novel tissue-specific pathologies in Barth Syndrome.
Sniezek Carney O, Harris KW, Wohlfarter Y, Lee K, Butschek G, Anzmann A, Claypool SM, Hamacher-Brady A, Keller M, Vernon HJ. Sniezek Carney O, et al. Among authors: vernon hj. bioRxiv [Preprint]. 2024 Apr 29:2024.04.28.591534. doi: 10.1101/2024.04.28.591534. bioRxiv. 2024. Update in: Hum Mol Genet. 2024 Nov 13:ddae152. doi: 10.1093/hmg/ddae152 PMID: 38746168 Free PMC article. Updated. Preprint.
Lipodystrophy in methylmalonic acidemia associated with elevated FGF21 and abnormal methylmalonylation.
Manoli I, Sysol JR, Head PE, Epping MW, Gavrilova O, Crocker MK, Sloan JL, Koutsoukos SA, Wang C, Ktena YP, Mendelson S, Pass AR, Zerfas PM, Hoffmann V, Vernon HJ, Fletcher LA, Reynolds JC, Tsokos MG, Stratakis CA, Voss SD, Chen KY, Brown RJ, Hamosh A, Berry GT, Chen XS, Yanovski JA, Venditti CP. Manoli I, et al. Among authors: vernon hj. JCI Insight. 2024 Feb 22;9(4):e174097. doi: 10.1172/jci.insight.174097. JCI Insight. 2024. PMID: 38271099 Free PMC article.
Lipid metabolism drives allele-specific early-stage hypertrophic cardiomyopathy.
Vaniya A, Karlstaedt A, Gulkok DA, Thottakara T, Liu Y, Fan S, Eades H, Fukunaga R, Vernon HJ, Fiehn O, Roselle Abraham M. Vaniya A, et al. Among authors: vernon hj. bioRxiv [Preprint]. 2023 Nov 15:2023.11.10.564562. doi: 10.1101/2023.11.10.564562. bioRxiv. 2023. Update in: J Mol Cell Cardiol Plus. 2024 Jun;8:100073. doi: 10.1016/j.jmccpl.2024.100073 PMID: 38014251 Free PMC article. Updated. Preprint.
249 results