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Page 1
Whole genome analysis of rare deleterious variants adds further evidence to BRSK2 and other risk genes in Autism Spectrum Disorder.
Bacchelli E, Viggiano M, Ceroni F, Visconti P, Posar A, Scaduto M, Sandoni L, Baravelli I, Cameli C, Rochat M, Maresca A, Vaisfeld A, Gentilini D, Calzari L, Carelli V, Zody M, Maestrini E. Bacchelli E, et al. Among authors: gentilini d. Res Sq [Preprint]. 2023 Oct 28:rs.3.rs-3468592. doi: 10.21203/rs.3.rs-3468592/v1. Res Sq. 2023. Update in: NPJ Genom Med. 2024 Mar 22;9(1):21. doi: 10.1038/s41525-024-00411-1. PMID: 37961520 Free PMC article. Updated. Preprint.
A genome-wide association meta-analysis identifies a novel locus at 17q11.2 associated with sporadic amyotrophic lateral sclerosis.
Fogh I, Ratti A, Gellera C, Lin K, Tiloca C, Moskvina V, Corrado L, Sorarù G, Cereda C, Corti S, Gentilini D, Calini D, Castellotti B, Mazzini L, Querin G, Gagliardi S, Del Bo R, Conforti FL, Siciliano G, Inghilleri M, Saccà F, Bongioanni P, Penco S, Corbo M, Sorbi S, Filosto M, Ferlini A, Di Blasio AM, Signorini S, Shatunov A, Jones A, Shaw PJ, Morrison KE, Farmer AE, Van Damme P, Robberecht W, Chiò A, Traynor BJ, Sendtner M, Melki J, Meininger V, Hardiman O, Andersen PM, Leigh NP, Glass JD, Overste D, Diekstra FP, Veldink JH, van Es MA, Shaw CE, Weale ME, Lewis CM, Williams J, Brown RH, Landers JE, Ticozzi N, Ceroni M, Pegoraro E, Comi GP, D'Alfonso S, van den Berg LH, Taroni F, Al-Chalabi A, Powell J, Silani V; SLAGEN Consortium and Collaborators. Fogh I, et al. Among authors: gentilini d, d alfonso s. Hum Mol Genet. 2014 Apr 15;23(8):2220-31. doi: 10.1093/hmg/ddt587. Epub 2013 Nov 20. Hum Mol Genet. 2014. PMID: 24256812 Free PMC article.
The genetic legacy of the Yaghnobis: A witness of an ancient Eurasian ancestry in the historically reshuffled central Asian gene pool.
Cilli E, Sarno S, Gnecchi Ruscone GA, Serventi P, De Fanti S, Delaini P, Ognibene P, Basello GP, Ravegnini G, Angelini S, Ferri G, Gentilini D, Di Blasio AM, Pelotti S, Pettener D, Sazzini M, Panaino A, Luiselli D, Gruppioni G. Cilli E, et al. Among authors: gentilini d. Am J Phys Anthropol. 2019 Apr;168(4):717-728. doi: 10.1002/ajpa.23789. Epub 2019 Jan 29. Am J Phys Anthropol. 2019. PMID: 30693949
Evidence for three genetic loci involved in both anorexia nervosa risk and variation of body mass index.
Hinney A, Kesselmeier M, Jall S, Volckmar AL, Föcker M, Antel J; GCAN; WTCCC3; Heid IM, Winkler TW; GIANT; Grant SF; EGG; Guo Y, Bergen AW, Kaye W, Berrettini W, Hakonarson H; Price Foundation Collaborative Group; Children’s Hospital of Philadelphia/Price Foundation; Herpertz-Dahlmann B, de Zwaan M, Herzog W, Ehrlich S, Zipfel S, Egberts KM, Adan R, Brandys M, van Elburg A, Boraska Perica V, Franklin CS, Tschöp MH, Zeggini E, Bulik CM, Collier D, Scherag A, Müller TD, Hebebrand J. Hinney A, et al. Mol Psychiatry. 2017 Feb;22(2):192-201. doi: 10.1038/mp.2016.71. Epub 2016 May 17. Mol Psychiatry. 2017. PMID: 27184124 Free PMC article.
Genome-wide association study of blood pressure extremes identifies variant near UMOD associated with hypertension.
Padmanabhan S, Melander O, Johnson T, Di Blasio AM, Lee WK, Gentilini D, Hastie CE, Menni C, Monti MC, Delles C, Laing S, Corso B, Navis G, Kwakernaak AJ, van der Harst P, Bochud M, Maillard M, Burnier M, Hedner T, Kjeldsen S, Wahlstrand B, Sjögren M, Fava C, Montagnana M, Danese E, Torffvit O, Hedblad B, Snieder H, Connell JM, Brown M, Samani NJ, Farrall M, Cesana G, Mancia G, Signorini S, Grassi G, Eyheramendy S, Wichmann HE, Laan M, Strachan DP, Sever P, Shields DC, Stanton A, Vollenweider P, Teumer A, Völzke H, Rettig R, Newton-Cheh C, Arora P, Zhang F, Soranzo N, Spector TD, Lucas G, Kathiresan S, Siscovick DS, Luan J, Loos RJ, Wareham NJ, Penninx BW, Nolte IM, McBride M, Miller WH, Nicklin SA, Baker AH, Graham D, McDonald RA, Pell JP, Sattar N, Welsh P; Global BPgen Consortium; Munroe P, Caulfield MJ, Zanchetti A, Dominiczak AF. Padmanabhan S, et al. Among authors: gentilini d. PLoS Genet. 2010 Oct 28;6(10):e1001177. doi: 10.1371/journal.pgen.1001177. PLoS Genet. 2010. PMID: 21082022 Free PMC article.
Erratum: A meta-analysis on age-associated changes in blood DNA methylation: results from an original analysis pipeline for Infinium 450k data.
Bacalini MG, Boattini A, Gentilini D, Giampieri E, Pirazzini C, Giuliani C, Fontanesi E, Remondini D, Capri M, Del Rio A, Luiselli D, Vitale G, Mari D, Castellani G, Di Blasio AM, Salvioli S, Franceschi C, Garagnani P. Bacalini MG, et al. Among authors: gentilini d. Aging (Albany NY). 2016 Apr;8(4):831. doi: 10.18632/aging.100915. Aging (Albany NY). 2016. PMID: 27182624 Free PMC article. No abstract available.
Identification of Cadherin 2 (CDH2) Mutations in Arrhythmogenic Right Ventricular Cardiomyopathy.
Mayosi BM, Fish M, Shaboodien G, Mastantuono E, Kraus S, Wieland T, Kotta MC, Chin A, Laing N, Ntusi NB, Chong M, Horsfall C, Pimstone SN, Gentilini D, Parati G, Strom TM, Meitinger T, Pare G, Schwartz PJ, Crotti L. Mayosi BM, et al. Among authors: gentilini d. Circ Cardiovasc Genet. 2017 Apr;10(2):e001605. doi: 10.1161/CIRCGENETICS.116.001605. Circ Cardiovasc Genet. 2017. PMID: 28280076 Clinical Trial.
144 results