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Page 1
Safety testing of blue vital dyes using cell culture models.
Giansanti F, Schiavone N, Papucci L, Bitossi A, Andreucci E, Pontenani F, Cutrì M, Menchini U. Giansanti F, et al. Among authors: cutri m. J Ocul Pharmacol Ther. 2014 Jun;30(5):406-12. doi: 10.1089/jop.2013.0213. Epub 2014 Feb 7. J Ocul Pharmacol Ther. 2014. PMID: 24506324
Monoallelic de novo AJAP1 loss-of-function variants disrupt trans-synaptic control of neurotransmitter release.
Früh S, Boudkkazi S, Koppensteiner P, Sereikaite V, Chen LY, Fernandez-Fernandez D, Rem PD, Ulrich D, Schwenk J, Chen Z, Le Monnier E, Fritzius T, Innocenti SM, Besseyrias V, Trovò L, Stawarski M, Argilli E, Sherr EH, van Bon B, Kamsteeg EJ, Iascone M, Pilotta A, Cutrì MR, Azamian MS, Hernández-García A, Lalani SR, Rosenfeld JA, Zhao X, Vogel TP, Ona H, Scott DA, Scheiffele P, Strømgaard K, Tafti M, Gassmann M, Fakler B, Shigemoto R, Bettler B. Früh S, et al. Among authors: cutri mr. Sci Adv. 2024 Jul 12;10(28):eadk5462. doi: 10.1126/sciadv.adk5462. Epub 2024 Jul 10. Sci Adv. 2024. PMID: 38985877 Free PMC article.
Return of genetic research results in 21,532 individuals with autism.
Wright JR, Astrovskaya I, Barns SD, Goler A, Zhou X, Shu C, Snyder LG, Han B; SPARK Consortium; Shen Y, Volfovsky N, Hall JB, Feliciano P, Chung WK. Wright JR, et al. Genet Med. 2024 Oct;26(10):101202. doi: 10.1016/j.gim.2024.101202. Epub 2024 Jun 29. Genet Med. 2024. PMID: 38958063 Free article.
Generation of human induced pluripotent stem cell lines derived from three Noonan syndrome patients from a single family carrying the heterozygous PTPN11 c.188 A > G (p.Y63C) mutation.
Sbrini G, Tomasoni Z, Cutrì MR, Pilotta A, Mingotti C, Badolato R, La Via L, Barbon A, Bono F, Fiorentini C. Sbrini G, et al. Among authors: cutri mr. Stem Cell Res. 2024 Feb;74:103293. doi: 10.1016/j.scr.2023.103293. Epub 2023 Dec 28. Stem Cell Res. 2024. PMID: 38160629 Free article.
Integrating de novo and inherited variants in 42,607 autism cases identifies mutations in new moderate-risk genes.
Zhou X, Feliciano P, Shu C, Wang T, Astrovskaya I, Hall JB, Obiajulu JU, Wright JR, Murali SC, Xu SX, Brueggeman L, Thomas TR, Marchenko O, Fleisch C, Barns SD, Snyder LG, Han B, Chang TS, Turner TN, Harvey WT, Nishida A, O'Roak BJ, Geschwind DH; SPARK Consortium; Michaelson JJ, Volfovsky N, Eichler EE, Shen Y, Chung WK. Zhou X, et al. Nat Genet. 2022 Sep;54(9):1305-1319. doi: 10.1038/s41588-022-01148-2. Epub 2022 Aug 18. Nat Genet. 2022. PMID: 35982159 Free PMC article.
Effects of Amerindian Genetic Ancestry on Clinical Variables and Therapy in Patients with Rheumatoid Arthritis.
Sánchez E, García de la Torre I, Sacnún M, Goñi M, Berbotto G, Paira S, Musuruana JL, Graf C, Alvarellos A, Messina OD, Babini A, Strusberg I, Marcos JC, Scherbarth H, Spindler A, Quinteros A, Toloza S, Moreno JLC, Catoggio LJ, Tate G, Eimon A, Citera G, Pellet AC, Nasswetter G, Cardiel MH, Miranda P, Ballesteros F, Esquivel-Valerio JA, Maradiaga-Ceceña MA, Acevedo-Vásquez EM, García CG, Tusié-Luna T, Pons-Estel BA, Alarcón-Riquelme ME; GENAR Study. Sánchez E, et al. J Rheumatol. 2017 Dec;44(12):1804-1812. doi: 10.3899/jrheum.160485. Epub 2017 Nov 1. J Rheumatol. 2017. PMID: 29093158 Free article.