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Page 1
Upregulation vs. loss of function of NTRK2 in 44 affected individuals leads to two distinct neurodevelopmental disorders.
Berger E, Jauss RT, Ranells JD, Zonic E, von Wintzingerode L, Wilson A, Wagner J, Tuttle A, Thomas-Wilson A, Schulte B, Rabin R, Pappas J, Odgis JA, Muthaffar O, Mendez-Fadol A, Lynch M, Levy J, Lehalle D, Lake NJ, Krey I, Kozenko M, Knierim E, Jouret G, Jobanputra V, Isidor B, Hunt D, Hsieh TC, Holtz AM, Haack TB, Gold NB, Dunstheimer D, Donge M, Deb W, De La Rosa Poueriet KA, Danyel M, Christodoulou J, Chopra S, Callewaert B, Busche A, Brick L, Bigay BG, Arlt M, Anikar SS, Almohammal MN, Almanza D, Alhashem A, Bertoli-Avella A, Sticht H, Jamra RA. Berger E, et al. Among authors: tuttle a. Genet Med. 2024 Nov 11:101326. doi: 10.1016/j.gim.2024.101326. Online ahead of print. Genet Med. 2024. PMID: 39540377 Free article.
Unveiling the crucial neuronal role of the proteasomal ATPase subunit gene PSMC5 in neurodevelopmental proteasomopathies.
Küry S, Stanton JE, van Woerden G, Hsieh TC, Rosenfelt C, Scott-Boyer MP, Most V, Wang T, Papendorf JJ, de Konink C, Deb W, Vignard V, Studencka-Turski M, Besnard T, Hajdukowicz AM, Thiel F, Möller S, Florenceau L, Cuinat S, Marsac S, Wentzensen I, Tuttle A, Forster C, Striesow J, Golnik R, Ortiz D, Jenkins L, Rosenfeld JA, Ziegler A, Houdayer C, Bonneau D, Torti E, Begtrup A, Monaghan KG, Mullegama SV, Volker-Touw CMLN, van Gassen KLI, Oegema R, de Pagter M, Steindl K, Rauch A, Ivanovski I, McDonald K, Boothe E, Dauber A, Baker J, Fabie NAV, Bernier RA, Turner TN, Srivastava S, Dies KA, Swanson L, Costin C, Jobling RK, Pappas J, Rabin R, Niyazov D, Tsai AC, Kovak K, Beck DB, Malicdan M, Adams DR, Wolfe L, Ganetzky RD, Muraresku C, Babikyan D, Sedláček Z, Hančárová M, Timberlake AT, Al Saif H, Nestler B, King K, Hajianpour MJ, Costain G, Prendergast D, Li C, Geneviève D, Vitobello A, Sorlin A, Philippe C, Harel T, Toker O, Sabir A, Lim D, Hamilton M, Bryson L, Cleary E, Weber S, Hoffman TL, Cueto-González AM, Tizzano EF, Gómez-Andrés D, Codina-Solà M, Ververi A, Pavlidou E, Lambropoulos A, Garganis K, Rio M, Levy J, Jurgensmeyer S, McRae AM, Lessard MK, D'Agostino MD, De Bi… See abstract for full author list ➔ Küry S, et al. Among authors: tuttle a. medRxiv [Preprint]. 2024 Jan 26:2024.01.13.24301174. doi: 10.1101/2024.01.13.24301174. medRxiv. 2024. PMID: 38293138 Free PMC article. 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, 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: tuttle a. 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: tuttle a. Genome Med. 2024 May 30;16(1):72. doi: 10.1186/s13073-024-01339-y. Genome Med. 2024. PMID: 38811945 Free PMC article.
Liberal or Restrictive Transfusion Strategy in Aneurysmal Subarachnoid Hemorrhage.
English SW, Delaney A, Fergusson DA, Chassé M, Turgeon AF, Lauzier F, Tuttle A, Sadan O, Griesdale DE, Redekop G, Chapman M, Hannouche M, Kramer A, Seppelt I, Udy A, Kutsogiannis DJ, Zarychanski R, D'Aragon F, Boyd JG, Salt G, Bellapart J, Wood G, Cava L, Pickett G, Koffman L, Watpool I, Bass F, Hammond N, Ramsay T, Mallick R, Scales DC, Andersen CR, Fitzgerald E, Talbot P, Dowlatshahi D, Sinclair J, Acker J, Marshall SC, McIntyre L; SAHARA Trial Investigators on behalf of the Canadian Critical Care Trials Group. English SW, et al. Among authors: tuttle a. N Engl J Med. 2024 Dec 9. doi: 10.1056/NEJMoa2410962. Online ahead of print. N Engl J Med. 2024. PMID: 39655786
Fatal borealpox in an immunosuppressed patient treated with antivirals and vaccinia immunoglobulin - Alaska, 2023.
Rogers JH, Westley B, Mego T, Newell KG, Laurance J, Smith L, Parker J, Park SY, Venkatasubrahmanyam S, Noll N, Bercovici S, Rao AK, McCollum AM, Davidson W, Carson WC, Townsend MB, Doty JB, Hutson C, Li Y, Wilkins K, Deng J, Gigante CM, Satheshkumar PS, Tuttle A, Villalba JA, Bhatnagar J, Reagan-Steiner S, Castrodale LJ, McLaughlin JB. Rogers JH, et al. Among authors: tuttle a. Clin Infect Dis. 2024 Nov 5:ciae536. doi: 10.1093/cid/ciae536. Online ahead of print. Clin Infect Dis. 2024. PMID: 39499668
Barriers, Solutions, and Opportunities for Adapting Critical Care Clinical Trials in the COVID-19 Pandemic.
Cook D, Taneja S, Krewulak K, Zytaruk N, Menon K, Fowler R, Lamontagne F, Kho ME, Rochwerg B, Masse MH, Lauzier F, O'Hearn K, Adhikari NKJ, Burns KEA, Bosma KJ, English S, McNally D, Turgeon AF, Brochard L, Parker M, Clayton L, Rishu A, Tuttle A, Daneman N, Fergusson D, McIntyre L, Kelly L, Orr S, Austin P, Mulligan S, Fiest K; Canadian Critical Care Trials Group and Canadian Clinical Research Network. Cook D, et al. Among authors: tuttle a. JAMA Netw Open. 2024 Jul 1;7(7):e2420458. doi: 10.1001/jamanetworkopen.2024.20458. JAMA Netw Open. 2024. PMID: 38995645 Free PMC article.
The drug drought in maternal health: an ongoing predicament.
Ammerdorffer A, McDougall ARA, Tuttle A, Rushwan S, Chinery L, Vogel JP, Goldstein M, Gülmezoglu AM. Ammerdorffer A, et al. Among authors: tuttle a. Lancet Glob Health. 2024 Jul;12(7):e1174-e1183. doi: 10.1016/S2214-109X(24)00144-X. Lancet Glob Health. 2024. PMID: 38876763 Free PMC article. Review.
193 results