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The genetic dissection of fetal haemoglobin persistence in sickle cell disease in Nigeria.
Ojewunmi OO, Adeyemo TA, Oyetunji AI, Inyang B, Akinrindoye A, Mkumbe BS, Gardner K, Rooks H, Brewin J, Patel H, Lee SH, Chung R, Rashkin S, Kang G, Chianumba R, Sangeda R, Mwita L, Isa H, Agumadu UN, Ekong R, Faruk JA, Jamoh BY, Adebiyi NM, Umar IA, Hassan A, Grace C, Goel A, Inusa BPD, Falchi M, Nkya S, Makani J, Ahmad HR, Nnodu O, Strouboulis J, Menzel S. Ojewunmi OO, et al. Among authors: falchi m. Hum Mol Genet. 2024 May 4;33(10):919-929. doi: 10.1093/hmg/ddae014. Hum Mol Genet. 2024. PMID: 38339995 Free PMC article.
Novel association approach for variable number tandem repeats (VNTRs) identifies DOCK5 as a susceptibility gene for severe obesity.
El-Sayed Moustafa JS, Eleftherohorinou H, de Smith AJ, Andersson-Assarsson JC, Alves AC, Hadjigeorgiou E, Walters RG, Asher JE, Bottolo L, Buxton JL, Sladek R, Meyre D, Dina C, Visvikis-Siest S, Jacobson P, Sjöström L, Carlsson LM, Walley A, Falchi M, Froguel P, Blakemore AI, Coin LJ. El-Sayed Moustafa JS, et al. Among authors: falchi m. Hum Mol Genet. 2012 Aug 15;21(16):3727-38. doi: 10.1093/hmg/dds187. Epub 2012 May 16. Hum Mol Genet. 2012. PMID: 22595969 Free PMC article.
Decreased STARD10 Expression Is Associated with Defective Insulin Secretion in Humans and Mice.
Carrat GR, Hu M, Nguyen-Tu MS, Chabosseau P, Gaulton KJ, van de Bunt M, Siddiq A, Falchi M, Thurner M, Canouil M, Pattou F, Leclerc I, Pullen TJ, Cane MC, Prabhala P, Greenwald W, Schulte A, Marchetti P, Ibberson M, MacDonald PE, Manning Fox JE, Gloyn AL, Froguel P, Solimena M, McCarthy MI, Rutter GA. Carrat GR, et al. Among authors: falchi m. Am J Hum Genet. 2017 Feb 2;100(2):238-256. doi: 10.1016/j.ajhg.2017.01.011. Epub 2017 Jan 26. Am J Hum Genet. 2017. PMID: 28132686 Free PMC article.
Deep molecular phenotypes link complex disorders and physiological insult to CpG methylation.
Zaghlool SB, Mook-Kanamori DO, Kader S, Stephan N, Halama A, Engelke R, Sarwath H, Al-Dous EK, Mohamoud YA, Roemisch-Margl W, Adamski J, Kastenmüller G, Friedrich N, Visconti A, Tsai PC, Spector T, Bell JT, Falchi M, Wahl A, Waldenberger M, Peters A, Gieger C, Pezer M, Lauc G, Graumann J, Malek JA, Suhre K. Zaghlool SB, et al. Among authors: falchi m. Hum Mol Genet. 2018 Mar 15;27(6):1106-1121. doi: 10.1093/hmg/ddy006. Hum Mol Genet. 2018. PMID: 29325019 Free PMC article.
A genome-wide meta-analysis identifies 22 loci associated with eight hematological parameters in the HaemGen consortium.
Soranzo N, Spector TD, Mangino M, Kühnel B, Rendon A, Teumer A, Willenborg C, Wright B, Chen L, Li M, Salo P, Voight BF, Burns P, Laskowski RA, Xue Y, Menzel S, Altshuler D, Bradley JR, Bumpstead S, Burnett MS, Devaney J, Döring A, Elosua R, Epstein SE, Erber W, Falchi M, Garner SF, Ghori MJ, Goodall AH, Gwilliam R, Hakonarson HH, Hall AS, Hammond N, Hengstenberg C, Illig T, König IR, Knouff CW, McPherson R, Melander O, Mooser V, Nauck M, Nieminen MS, O'Donnell CJ, Peltonen L, Potter SC, Prokisch H, Rader DJ, Rice CM, Roberts R, Salomaa V, Sambrook J, Schreiber S, Schunkert H, Schwartz SM, Serbanovic-Canic J, Sinisalo J, Siscovick DS, Stark K, Surakka I, Stephens J, Thompson JR, Völker U, Völzke H, Watkins NA, Wells GA, Wichmann HE, Van Heel DA, Tyler-Smith C, Thein SL, Kathiresan S, Perola M, Reilly MP, Stewart AF, Erdmann J, Samani NJ, Meisinger C, Greinacher A, Deloukas P, Ouwehand WH, Gieger C. Soranzo N, et al. Among authors: falchi m. Nat Genet. 2009 Nov;41(11):1182-90. doi: 10.1038/ng.467. Epub 2009 Oct 11. Nat Genet. 2009. PMID: 19820697 Free PMC article.
311 results