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Page 1
Multiplex targeted high-throughput sequencing for Mendelian cardiac disorders.
Fokstuen S, Makrythanasis P, Nikolaev S, Santoni F, Robyr D, Munoz A, Bevillard J, Farinelli L, Iseli C, Antonarakis SE, Blouin JL. Fokstuen S, et al. Among authors: santoni f. Clin Genet. 2014 Apr;85(4):365-70. doi: 10.1111/cge.12168. Epub 2013 May 13. Clin Genet. 2014. PMID: 23590259
Human genome meeting 2016 : Houston, TX, USA. 28 February - 2 March 2016.
Srivastava AK, Wang Y, Huang R, Skinner C, Thompson T, Pollard L, Wood T, Luo F, Stevenson R, Polimanti R, Gelernter J, Lin X, Lim IY, Wu Y, Teh AL, Chen L, Aris IM, Soh SE, Tint MT, MacIsaac JL, Yap F, Kwek K, Saw SM, Kobor MS, Meaney MJ, Godfrey KM, Chong YS, Holbrook JD, Lee YS, Gluckman PD, Karnani N; GUSTO study group; Kapoor A, Lee D, Chakravarti A, Maercker C, Graf F, Boutros M, Stamoulis G, Santoni F, Makrythanasis P, Letourneau A, Guipponi M, Panousis N, Garieri M, Ribaux P, Falconnet E, Borel C, Antonarakis SE, Kumar S, Curran J, Blangero J, Chatterjee S, Kapoor A, Akiyama J, Auer D, Berrios C, Pennacchio L, Chakravarti A, Donti TR, Cappuccio G, Miller M, Atwal P, Kennedy A, Cardon A, Bacino C, Emrick L, Hertecant J, Baumer F, Porter B, Bainbridge M, Bonnen P, Graham B, Sutton R, Sun Q, Elsea S, Hu Z, Wang P, Zhu Y, Zhao J, Xiong M, Bennett DA, Hidalgo-Miranda A, Romero-Cordoba S, Rodriguez-Cuevas S, Rebollar-Vega R, Tagliabue E, Iorio M, D’Ippolito E, Baroni S, Kaczkowski B, Tanaka Y, Kawaji H, Sandelin A, Andersson R, Itoh M, Lassmann T; The FANTOM5 Consortium; Hayashizaki Y, Carninci P, Forrest ARR, Semple CA, Rosenthal EA, Shirts B, Amendola L, Gallego C, Hori… See abstract for full author list ➔ Srivastava AK, et al. Among authors: santoni f. Hum Genomics. 2016 May 26;10 Suppl 1(Suppl 1):12. doi: 10.1186/s40246-016-0063-5. Hum Genomics. 2016. PMID: 27294413 Free PMC article.
Stamoulis, F. Santoni, P. Makrythanasis, A. Letourneau, M. Guipponi, N. Panousis, M. ...Letourneau, P. Ribaux, K. Popadin, N. Basset-Seguin, R. Ben Chaabene, F. Santoni, M. Andrianova, M. Guipponi, M. Garieri, C. Verdan, K. ...
Stamoulis, F. Santoni, P. Makrythanasis, A. Letourneau, M. Guipponi, N. Panousis, M. ...Letourneau, P. Ribaux, K. Popadin, N. …
No evidence for the presence of genetic variants predisposing to psychotic disorders on the non-deleted 22q11.2 allele of VCFS patients.
Guipponi M, Santoni F, Schneider M, Gehrig C, Bustillo XB, Kates WR, Morrow B, Armando M, Vicari S, Sloan-Béna F, Gagnebin M, Shashi V, Hooper SR, Eliez S, Antonarakis SE. Guipponi M, et al. Among authors: santoni f. Transl Psychiatry. 2017 Feb 21;7(2):e1039. doi: 10.1038/tp.2016.258. Transl Psychiatry. 2017. PMID: 28221368 Free PMC article.
Limited evidence for blood eQTLs in human sexual dimorphism.
Porcu E, Claringbould A, Weihs A, Lepik K; BIOS Consortium; Richardson TG, Völker U, Santoni FA, Teumer A, Franke L, Reymond A, Kutalik Z. Porcu E, et al. Among authors: santoni fa. Genome Med. 2022 Aug 11;14(1):89. doi: 10.1186/s13073-022-01088-w. Genome Med. 2022. PMID: 35953856 Free PMC article.
TRIM5 is an innate immune sensor for the retrovirus capsid lattice.
Pertel T, Hausmann S, Morger D, Züger S, Guerra J, Lascano J, Reinhard C, Santoni FA, Uchil PD, Chatel L, Bisiaux A, Albert ML, Strambio-De-Castillia C, Mothes W, Pizzato M, Grütter MG, Luban J. Pertel T, et al. Nature. 2011 Apr 21;472(7343):361-5. doi: 10.1038/nature09976. Nature. 2011. PMID: 21512573 Free PMC article.
Genetic loci linked to type 1 diabetes and multiple sclerosis families in Sardinia.
Pitzalis M, Zavattari P, Murru R, Deidda E, Zoledziewska M, Murru D, Moi L, Motzo C, Orrù V, Costa G, Solla E, Fadda E, Schirru L, Melis MC, Lai M, Mancosu C, Tranquilli S, Cuccu S, Rolesu M, Secci MA, Corongiu D, Contu D, Lampis R, Nucaro A, Pala G, Pacifico A, Maioli M, Frongia P, Chessa M, Ricciardi R, Lostia S, Marinaro AM, Milia AF, Landis N, Zedda MA, Whalen MB, Santoni F, Marrosu MG, Devoto M, Cucca F. Pitzalis M, et al. Among authors: santoni f. BMC Med Genet. 2008 Jan 20;9:3. doi: 10.1186/1471-2350-9-3. BMC Med Genet. 2008. PMID: 18205952 Free PMC article.
130 results