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Multi-ancestry genome-wide association study of 4069 children with glioma identifies 9p21.3 risk locus.
Foss-Skiftesvik J, Li S, Rosenbaum A, Hagen CM, Stoltze UK, Ljungqvist S, Hjalmars U, Schmiegelow K, Morimoto L, de Smith AJ, Mathiasen R, Metayer C, Hougaard D, Melin B, Walsh KM, Bybjerg-Grauholm J, Dahlin AM, Wiemels JL. Foss-Skiftesvik J, et al. Among authors: de smith aj. Neuro Oncol. 2023 Sep 5;25(9):1709-1720. doi: 10.1093/neuonc/noad042. Neuro Oncol. 2023. PMID: 36810956 Free PMC article.
Structural variation in two human genomes mapped at single-nucleotide resolution by whole genome de novo assembly.
Li Y, Zheng H, Luo R, Wu H, Zhu H, Li R, Cao H, Wu B, Huang S, Shao H, Ma H, Zhang F, Feng S, Zhang W, Du H, Tian G, Li J, Zhang X, Li S, Bolund L, Kristiansen K, de Smith AJ, Blakemore AI, Coin LJ, Yang H, Wang J, Wang J. Li Y, et al. Among authors: de smith aj. Nat Biotechnol. 2011 Jul 24;29(8):723-30. doi: 10.1038/nbt.1904. Nat Biotechnol. 2011. PMID: 21785424
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: de smith aj. 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.
Cortical Lewy bodies and Aβ burden are associated with prevalence and timing of dementia in Lewy body diseases.
Ruffmann C, Calboli FC, Bravi I, Gveric D, Curry LK, de Smith A, Pavlou S, Buxton JL, Blakemore AI, Takousis P, Molloy S, Piccini P, Dexter DT, Roncaroli F, Gentleman SM, Middleton LT. Ruffmann C, et al. Neuropathol Appl Neurobiol. 2016 Aug;42(5):436-50. doi: 10.1111/nan.12294. Epub 2015 Dec 2. Neuropathol Appl Neurobiol. 2016. PMID: 26527105 Free article.
PDGFRα demarcates the cardiogenic clonogenic Sca1+ stem/progenitor cell in adult murine myocardium.
Noseda M, Harada M, McSweeney S, Leja T, Belian E, Stuckey DJ, Abreu Paiva MS, Habib J, Macaulay I, de Smith AJ, al-Beidh F, Sampson R, Lumbers RT, Rao P, Harding SE, Blakemore AI, Jacobsen SE, Barahona M, Schneider MD. Noseda M, et al. Among authors: de smith aj. Nat Commun. 2015 May 18;6:6930. doi: 10.1038/ncomms7930. Nat Commun. 2015. PMID: 25980517 Free PMC article.
A deletion of the HBII-85 class of small nucleolar RNAs (snoRNAs) is associated with hyperphagia, obesity and hypogonadism.
de Smith AJ, Purmann C, Walters RG, Ellis RJ, Holder SE, Van Haelst MM, Brady AF, Fairbrother UL, Dattani M, Keogh JM, Henning E, Yeo GS, O'Rahilly S, Froguel P, Farooqi IS, Blakemore AI. de Smith AJ, et al. Hum Mol Genet. 2009 Sep 1;18(17):3257-65. doi: 10.1093/hmg/ddp263. Epub 2009 Jun 4. Hum Mol Genet. 2009. PMID: 19498035 Free PMC article.
98 results