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Page 1
Missense variants in RPH3A cause defects in excitatory synaptic function and are associated with a clinically variable neurodevelopmental disorder.
Pavinato L, Stanic J, Barzasi M, Gurgone A, Chiantia G, Cipriani V, Eberini I, Palazzolo L, Di Luca M, Costa A, Marcantoni A, Biamino E, Spada M, Hiatt SM, Kelley WV, Vestito L, Sisodiya SM; Genomics England Research Consortium; Efthymiou S, Chand P, Kaiyrzhanov R, Bruselles A, Cardaropoli S, Tartaglia M, De Rubeis S, Buxbaum JD, Smedley D, Ferrero GB, Giustetto M, Gardoni F, Brusco A. Pavinato L, et al. Among authors: buxbaum jd. Genet Med. 2023 Nov;25(11):100922. doi: 10.1016/j.gim.2023.100922. Epub 2023 Jul 1. Genet Med. 2023. PMID: 37403762 Free article.
Updated consensus guidelines on the management of Phelan-McDermid syndrome.
Srivastava S, Sahin M, Buxbaum JD, Berry-Kravis E, Soorya LV, Thurm A, Bernstein JA, Asante-Otoo A, Bennett WE Jr, Betancur C, Brickhouse TH, Passos Bueno MR, Chopra M, Christensen CK, Cully JL, Dies K, Friedman K, Gummere B, Holder JL Jr, Jimenez-Gomez A, Kerins CA, Khan O, Kohlenberg T, Lacro RV, Levi LA, Levy T, Linnehan D, Eva L, Moshiree B, Neumeyer A, Paul SM, Phelan K, Persico A, Rapaport R, Rogers C, Saland J, Sethuram S, Shapiro J, Tarr PI, White KM, Wickstrom J, Williams KM, Winrow D, Wishart B, Kolevzon A. Srivastava S, et al. Among authors: buxbaum jd. Am J Med Genet A. 2023 Aug;191(8):2015-2044. doi: 10.1002/ajmg.a.63312. Epub 2023 Jul 1. Am J Med Genet A. 2023. PMID: 37392087 Free PMC article. Review.
Expanding GABAergic Neuronal Diversity in iPSC-Derived Disease Models.
Hu R, Boshans LL, Zhu B, Cai P, Tao Y, Youssef M, Girrbach GI, Song Y, Wang X, Tsankov A, Buxbaum JD, Ma S, Yang N. Hu R, et al. Among authors: buxbaum jd. bioRxiv [Preprint]. 2024 Dec 4:2024.12.03.626438. doi: 10.1101/2024.12.03.626438. bioRxiv. 2024. PMID: 39677822 Free PMC article. Preprint.
Skipping of Exon 20 in EP300: A Novel Variant Linked to Rubinstein-Taybi Syndrome With Atypical and Severe Clinical Manifestations.
Pavinato L, Carestiato S, Trajkova S, Sorasio L, Mantovani G, De Sanctis L, Kerkhof J, Haley, Rzasa J, Todd E, Balzo M, Cardaropoli S, Bruselles A, De Rubeis S, Buxbaum JD, Tartaglia M, Sadikovic B, Ferrero GB, Brusco A. Pavinato L, et al. Among authors: buxbaum jd. Clin Genet. 2024 Nov 27. doi: 10.1111/cge.14654. Online ahead of print. Clin Genet. 2024. PMID: 39603792
Correction: Normal saline versus lactated Ringer's solution for acute pancreatitis resuscitation, an open-label multicenter randomized controlled trial: the WATERLAND trial study protocol.
Guilabert L, Cárdenas-Jaén K, Vaillo-Rocamora A, de Paredes AGG, Chhoda A, Sheth SG, López-Valero C, Zapater P, Navarrete-Muñoz EM, Maisonneuve P, Hernández-Barco YG, Capurso G, Buxbaum JL, de-Madaria E; ERICA consortium. Guilabert L, et al. Among authors: buxbaum jl. Trials. 2024 Nov 15;25(1):769. doi: 10.1186/s13063-024-08581-0. Trials. 2024. PMID: 39548514 Free PMC article. No abstract available.
878 results