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Proteomic and functional variation within black snake venoms (Elapidae: Pseudechis).
Goldenberg J, Cipriani V, Jackson TNW, Arbuckle K, Debono J, Dashevsky D, Panagides N, Ikonomopoulou MP, Koludarov I, Li B, Santana RC, Nouwens A, Jones A, Hay C, Dunstan N, Allen L, Bush B, Miles JJ, Ge L, Kwok HF, Fry BG. Goldenberg J, et al. Among authors: cipriani v. Comp Biochem Physiol C Toxicol Pharmacol. 2018 Feb;205:53-61. doi: 10.1016/j.cbpc.2018.01.001. Epub 2018 Jan 17. Comp Biochem Physiol C Toxicol Pharmacol. 2018. PMID: 29353015 Free article.
Rapid Radiations and the Race to Redundancy: An Investigation of the Evolution of Australian Elapid Snake Venoms.
Jackson TN, Koludarov I, Ali SA, Dobson J, Zdenek CN, Dashevsky D, Op den Brouw B, Masci PP, Nouwens A, Josh P, Goldenberg J, Cipriani V, Hay C, Hendrikx I, Dunstan N, Allen L, Fry BG. Jackson TN, et al. Among authors: cipriani v. Toxins (Basel). 2016 Oct 26;8(11):309. doi: 10.3390/toxins8110309. Toxins (Basel). 2016. PMID: 27792190 Free PMC article.
Correlation between ontogenetic dietary shifts and venom variation in Australian brown snakes (Pseudonaja).
Cipriani V, Debono J, Goldenberg J, Jackson TNW, Arbuckle K, Dobson J, Koludarov I, Li B, Hay C, Dunstan N, Allen L, Hendrikx I, Kwok HF, Fry BG. Cipriani V, et al. Comp Biochem Physiol C Toxicol Pharmacol. 2017 Jul;197:53-60. doi: 10.1016/j.cbpc.2017.04.007. Epub 2017 Apr 27. Comp Biochem Physiol C Toxicol Pharmacol. 2017. PMID: 28457945 Free article.
Multiple Sclerosis, Fatigue, Expanded Disability Status Scale: A Cross-Sectional Exploration of Sleep Efficiency and Quantitative Sleep Parameters.
Queisi M, Attarian H, Cipriani VP, Azzi S, Kaczmarek O, Bumstead B, Buhse M, Zarif M, Golan D, Wilken J, Covey T, Gudesblatt M. Queisi M, et al. Among authors: cipriani vp. Int J MS Care. 2024 Mar-Apr;26(2):57-60. doi: 10.7224/1537-2073.2022-118. Epub 2024 Mar 11. Int J MS Care. 2024. PMID: 38482517 Free PMC article.
Rare disease gene association discovery from burden analysis of the 100,000 Genomes Project data.
Cipriani V, Vestito L, Magavern EF, Jacobsen JO, Arno G, Behr ER, Benson KA, Bertoli M, Bockenhauer D, Bowl MR, Burley K, Chan LF, Chinnery P, Conlon P, Costa M, Davidson AE, Dawson SJ, Elhassan E, Flanagan SE, Futema M, Gale DP, García-Ruiz S, Corcia CG, Griffin HR, Hambleton S, Hicks AR, Houlden H, Houlston RS, Howles SA, Kleta R, Lekkerkerker I, Lin S, Liskova P, Mitchison H, Morsy H, Mumford AD, Newman WG, Neatu R, O'Toole EA, Ong AC, Pagnamenta AT, Rahman S, Rajan N, Robinson PN, Ryten M, Sadeghi-Alavijeh O, Sayer JA, Shovlin CL, Taylor JC, Teltsh O, Tomlinson I, Tucci A, Turnbull C, van Eerde AM, Ware JS, Watts LM, Webster AR, Westbury SK, Zheng SL, Caulfield M, Smedley D. Cipriani V, et al. medRxiv [Preprint]. 2023 Dec 21:2023.12.20.23300294. doi: 10.1101/2023.12.20.23300294. medRxiv. 2023. PMID: 38196618 Free PMC article. Preprint.
Heterozygous UCHL1 loss-of-function variants cause a neurodegenerative disorder with spasticity, ataxia, neuropathy, and optic atrophy.
Park J, Tucci A, Cipriani V, Demidov G, Rocca C, Senderek J, Butryn M, Velic A, Lam T, Galanaki E, Cali E, Vestito L, Maroofian R, Deininger N, Rautenberg M, Admard J, Hahn GA, Bartels C, van Os NJH, Horvath R, Chinnery PF, Tiet MY, Hewamadduma C, Hadjivassiliou M, Downes SM, Németh AH, Tofaris GK; Genomics England Research Consortium; Wood NW, Hayer SN, Bender F, Menden B, Cordts I, Klein K, Nguyen HP, Krauss JK, Blahak C, Strom TM, Sturm M, van de Warrenburg B, Lerche H, Maček B, Synofzik M, Ossowski S, Timmann D, Wolf ME, Smedley D, Riess O, Schöls L, Houlden H, Haack TB, Hengel H. Park J, et al. Among authors: cipriani v. Genet Med. 2023 Oct;25(10):100961. doi: 10.1016/j.gim.2023.100961. Epub 2023 Aug 31. Genet Med. 2023. PMID: 37650884 No abstract available.
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: cipriani v. 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.
A new polygenic score for refractive error improves detection of children at risk of high myopia but not the prediction of those at risk of myopic macular degeneration.
Clark R, Lee SS, Du R, Wang Y, Kneepkens SCM, Charng J, Huang Y, Hunter ML, Jiang C, Tideman JWL, Melles RB, Klaver CCW, Mackey DA, Williams C, Choquet H, Ohno-Matsui K, Guggenheim JA; CREAM Consortium; UK Biobank Eye and Vision Consortium. Clark R, et al. EBioMedicine. 2023 May;91:104551. doi: 10.1016/j.ebiom.2023.104551. Epub 2023 Apr 11. EBioMedicine. 2023. PMID: 37055258 Free PMC article.
86 results