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Page 1
Showing results for andrew timms
Search for Andrew Timmis instead (2 results)
Spatial and cell type transcriptional landscape of human cerebellar development.
Aldinger KA, Thomson Z, Phelps IG, Haldipur P, Deng M, Timms AE, Hirano M, Santpere G, Roco C, Rosenberg AB, Lorente-Galdos B, Gulden FO, O'Day D, Overman LM, Lisgo SN, Alexandre P, Sestan N, Doherty D, Dobyns WB, Seelig G, Glass IA, Millen KJ. Aldinger KA, et al. Among authors: timms ae. Nat Neurosci. 2021 Aug;24(8):1163-1175. doi: 10.1038/s41593-021-00872-y. Epub 2021 Jun 17. Nat Neurosci. 2021. PMID: 34140698 Free PMC article.
Delineating the molecular and phenotypic spectrum of the SETD1B-related syndrome.
Weerts MJA, Lanko K, Guzmán-Vega FJ, Jackson A, Ramakrishnan R, Cardona-Londoño KJ, Peña-Guerra KA, van Bever Y, van Paassen BW, Kievit A, van Slegtenhorst M, Allen NM, Kehoe CM, Robinson HK, Pang L, Banu SH, Zaman M, Efthymiou S, Houlden H, Järvelä I, Lauronen L, Määttä T, Schrauwen I, Leal SM, Ruivenkamp CAL, Barge-Schaapveld DQCM, Peeters-Scholte CMPCD, Galehdari H, Mazaheri N, Sisodiya SM, Harrison V, Sun A, Thies J, Pedroza LA, Lara-Taranchenko Y, Chinn IK, Lupski JR, Garza-Flores A, McGlothlin J, Yang L, Huang S, Wang X, Jewett T, Rosso G, Lin X, Mohammed S, Merritt JL 2nd, Mirzaa GM, Timms AE, Scheck J, Elting MW, Polstra AM, Schenck L, Ruzhnikov MRZ, Vetro A, Montomoli M, Guerrini R, Koboldt DC, Mosher TM, Pastore MT, McBride KL, Peng J, Pan Z, Willemsen M, Koning S, Turnpenny PD, de Vries BBA, Gilissen C, Pfundt R, Lees M, Braddock SR, Klemp KC, Vansenne F, van Gijn ME, Quindipan C, Deardorff MA, Hamm JA, Putnam AM, Baud R, Walsh L, Lynch SA, Baptista J, Person RE, Monaghan KG, Crunk A, Keller-Ramey J, Reich A, Elloumi HZ, Alders M, Kerkhof J, McConkey H, Haghshenas S; Genomics England Research Consortium; Maroofian R, Sadikovic B, Banka S, Arold ST, Barakat TS. Weerts MJA, et al. Among authors: timms ae. Genet Med. 2021 Nov;23(11):2122-2137. doi: 10.1038/s41436-021-01246-2. Epub 2021 Aug 3. Genet Med. 2021. PMID: 34345025 Free PMC article.
Haploinsufficiency of SF3B2 causes craniofacial microsomia.
Timberlake AT, Griffin C, Heike CL, Hing AV, Cunningham ML, Chitayat D, Davis MR, Doust SJ, Drake AF, Duenas-Roque MM, Goldblatt J, Gustafson JA, Hurtado-Villa P, Johns A, Karp N, Laing NG, Magee L; University of Washington Center for Mendelian Genomics; Mullegama SV, Pachajoa H, Porras-Hurtado GL, Schnur RE, Slee J, Singer SL, Staffenberg DA, Timms AE, Wise CA, Zarante I, Saint-Jeannet JP, Luquetti DV. Timberlake AT, et al. Among authors: timms ae. Nat Commun. 2021 Aug 3;12(1):4680. doi: 10.1038/s41467-021-24852-9. Nat Commun. 2021. PMID: 34344887 Free PMC article.
PIK3CA-associated developmental disorders exhibit distinct classes of mutations with variable expression and tissue distribution.
Mirzaa G, Timms AE, Conti V, Boyle EA, Girisha KM, Martin B, Kircher M, Olds C, Juusola J, Collins S, Park K, Carter M, Glass I, Krägeloh-Mann I, Chitayat D, Parikh AS, Bradshaw R, Torti E, Braddock S, Burke L, Ghedia S, Stephan M, Stewart F, Prasad C, Napier M, Saitta S, Straussberg R, Gabbett M, O'Connor BC, Keegan CE, Yin LJ, Lai AHM, Martin N, McKinnon M, Addor MC, Boccuto L, Schwartz CE, Lanoel A, Conway RL, Devriendt K, Tatton-Brown K, Pierpont ME, Painter M, Worgan L, Reggin J, Hennekam R, Tsuchiya K, Pritchard CC, Aracena M, Gripp KW, Cordisco M, Van Esch H, Garavelli L, Curry C, Goriely A, Kayserilli H, Shendure J, Graham J Jr, Guerrini R, Dobyns WB. Mirzaa G, et al. Among authors: timms ae. JCI Insight. 2016 Jun 16;1(9):e87623. doi: 10.1172/jci.insight.87623. JCI Insight. 2016. PMID: 27631024 Free PMC article.
Recurrent de novo variants in the spliceosomal factor CRNKL1 are associated with severe microcephaly and pontocerebellar hypoplasia with seizures.
Ray Das S, Sullivan R, Ruegg MSG, Horsfield J, Doran J, Poke G, de Vries N, Duerinckx S, Lederer D, Haniffa M, Keng WT, Ch'ng GS, Parry DA, Jackson AP, Sakamoto M, Matsumoto N, Miyake N, Nabatame S, Taniguchi H, Wakeling E; Deciphering Developmental Disorders Study; Õunap K, Ilves P, Mirzaa G, Timms A, Pao E, Aldinger KA, Dobyns W, Bohring A, Behre B, Calame DG, Lupski JR, Pascual JM, Abramowicz M, Gimenez G, Bicknell LS. Ray Das S, et al. Among authors: timms a. Am J Hum Genet. 2025 Jul 3;112(7):1722-1732. doi: 10.1016/j.ajhg.2025.05.013. Epub 2025 Jun 18. Am J Hum Genet. 2025. PMID: 40857589 Free PMC article.
Two New Cases Expand the Phenotypic Spectrum of TUBG1 Missense Variants.
Urreizti R, Vissicchio J, Idries M, Cozar M, Rabionet R, Donald T, Bhoj EJ, Nomakuchi TT, Shipley SC, Timms AE, Mirzaa GM, Serrano M, Sobering AK. Urreizti R, et al. Among authors: timms ae. Am J Med Genet A. 2025 Sep;197(9):e64095. doi: 10.1002/ajmg.a.64095. Epub 2025 Apr 29. Am J Med Genet A. 2025. PMID: 40298439
A shear stress-responsive pathway in monocytes drives cardiopulmonary bypass-induced inflammation via spectrin/RAF1/store-operated calcium entry.
Li W, Tu LN, Hsieh L, Smith JR, Yeh YT, Sinyagin A, Evans EGB, Ghassemian M, Timms A, Charette K, Mauchley D, McMullan M, Bohuta L, Greene C, Regier MC, Del Alamo JC, Savan R, Nigam V. Li W, et al. Among authors: timms a. Cell Rep. 2026 Feb 24;45(2):116903. doi: 10.1016/j.celrep.2025.116903. Epub 2026 Jan 23. Cell Rep. 2026. PMID: 41579376 Free PMC article.
77 results