de Smith A - Search Results

1

Novel insight into the etiology of ischemic stroke gained by integrative transcriptome-wide association study.

Jung J, Lu Z, de Smith A, Mancuso N. Jung J, et al. Among authors: de smith a. medRxiv [Preprint]. 2023 Mar 31:2023.03.30.23287918. doi: 10.1101/2023.03.30.23287918. medRxiv. 2023. Update in: Hum Mol Genet. 2024 Jan 7;33(2):170-181. doi: 10.1093/hmg/ddad174 PMID: 37034585 Free PMC article. Updated. Preprint.

2

Investigation of the HIN200 locus in UK SLE families identifies novel copy number variants.

Fernando MM, de Smith AJ, Coin L, Morris DL, Froguel P, Mangion J, Blakemore AI, Graham RR, Behrens TW, Vyse TJ. Fernando MM, et al. Among authors: de smith aj. Ann Hum Genet. 2011 May;75(3):383-97. doi: 10.1111/j.1469-1809.2011.00641.x. Epub 2011 Mar 14. Ann Hum Genet. 2011. PMID: 21401563

3

Chromosome 19p13.3 deletion in a patient with macrocephaly, obesity, mental retardation, and behavior problems.

de Smith AJ, van Haelst MM, Ellis RJ, Holder SE, Payne SJ, Hashim SK, Froguel P, Blakemore AI. de Smith AJ, et al. Am J Med Genet A. 2011 May;155A(5):1192-5. doi: 10.1002/ajmg.a.33986. Epub 2011 Apr 4. Am J Med Genet A. 2011. PMID: 21465662 No abstract available.

4

Imprinted expression of UBE3A in non-neuronal cells from a Prader-Willi syndrome patient with an atypical deletion.

Martins-Taylor K, Hsiao JS, Chen PF, Glatt-Deeley H, De Smith AJ, Blakemore AI, Lalande M, Chamberlain SJ. Martins-Taylor K, et al. Hum Mol Genet. 2014 May 1;23(9):2364-73. doi: 10.1093/hmg/ddt628. Epub 2013 Dec 20. Hum Mol Genet. 2014. PMID: 24363065 Free PMC article.

5

Accurate single-nucleotide polymorphism allele assignment in trisomic or duplicated regions by using a single base-extension assay with MALDI-TOF mass spectrometry.

Trewick AL, Moustafa JS, de Smith AJ, Froguel P, Greve G, Njølstad PR, Coin LJ, Blakemore AI. Trewick AL, et al. Clin Chem. 2011 Aug;57(8):1188-95. doi: 10.1373/clinchem.2010.159558. Epub 2011 Jun 15. Clin Chem. 2011. PMID: 21677093 Free article.

6

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. Nat Commun. 2015 May 18;6:6930. doi: 10.1038/ncomms7930. Nat Commun. 2015. PMID: 25980517 Free PMC article.

7

FCGR3B copy number variation is associated with susceptibility to systemic, but not organ-specific, autoimmunity.

Fanciulli M, Norsworthy PJ, Petretto E, Dong R, Harper L, Kamesh L, Heward JM, Gough SC, de Smith A, Blakemore AI, Froguel P, Owen CJ, Pearce SH, Teixeira L, Guillevin L, Graham DS, Pusey CD, Cook HT, Vyse TJ, Aitman TJ. Fanciulli M, et al. Among authors: de smith a. Nat Genet. 2007 Jun;39(6):721-3. doi: 10.1038/ng2046. Epub 2007 May 21. Nat Genet. 2007. PMID: 17529978 Free PMC article.

8

Associations between genome-wide Native American ancestry, known risk alleles and B-cell ALL risk in Hispanic children.

Walsh KM, Chokkalingam AP, Hsu LI, Metayer C, de Smith AJ, Jacobs DI, Dahl GV, Loh ML, Smirnov IV, Bartley K, Ma X, Wiencke JK, Barcellos LF, Wiemels JL, Buffler PA. Walsh KM, et al. Among authors: de smith aj. Leukemia. 2013 Dec;27(12):2416-9. doi: 10.1038/leu.2013.130. Epub 2013 Apr 25. Leukemia. 2013. PMID: 23615557 Free PMC article. No abstract available.

9

Genetic Variation Associated with Longer Telomere Length Increases Risk of Chronic Lymphocytic Leukemia.

Ojha J, Codd V, Nelson CP, Samani NJ, Smirnov IV, Madsen NR, Hansen HM, de Smith AJ, Bracci PM, Wiencke JK, Wrensch MR, Wiemels JL, Walsh KM; ENGAGE Consortium Telomere Group. Ojha J, et al. Cancer Epidemiol Biomarkers Prev. 2016 Jul;25(7):1043-9. doi: 10.1158/1055-9965.EPI-15-1329. Epub 2016 May 13. Cancer Epidemiol Biomarkers Prev. 2016. PMID: 27197291 Free PMC article.

10

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. Nat Biotechnol. 2011 Jul 24;29(8):723-30. doi: 10.1038/nbt.1904. Nat Biotechnol. 2011. PMID: 21785424

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