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Items: 16

1.

A Pipeline for Faecal Host DNA Analysis by Absolute Quantification of LINE-1 and Mitochondrial Genomic Elements Using ddPCR.

He K, Fujiwara H, Zajac C, Sandford E, Reddy P, Choi SW, Tewari M.

Sci Rep. 2019 Apr 3;9(1):5599. doi: 10.1038/s41598-019-41753-6.

2.

COQ4 Mutation Leads to Childhood-Onset Ataxia Improved by CoQ10 Administration.

Caglayan AO, Gumus H, Sandford E, Kubisiak TL, Ma Q, Ozel AB, Per H, Li JZ, Shakkottai VG, Burmeister M.

Cerebellum. 2019 Jun;18(3):665-669. doi: 10.1007/s12311-019-01011-x. No abstract available.

PMID:
30847826
3.

BaiHui: cross-species brain-specific network built with hundreds of hand-curated datasets.

Li HD, Bai T, Sandford E, Burmeister M, Guan Y.

Bioinformatics. 2019 Jul 15;35(14):2486-2488. doi: 10.1093/bioinformatics/bty1001.

PMID:
30521009
4.

Targeted exome analysis identifies the genetic basis of disease in over 50% of patients with a wide range of ataxia-related phenotypes.

Sun M, Johnson AK, Nelakuditi V, Guidugli L, Fischer D, Arndt K, Ma L, Sandford E, Shakkottai V, Boycott K, Chardon JW, Li Z, Del Gaudio D, Burmeister M, Gomez CM, Waggoner DJ, Das S.

Genet Med. 2019 Jan;21(1):195-206. doi: 10.1038/s41436-018-0007-7. Epub 2018 Jun 18.

PMID:
29915382
5.

Mutations in VPS13D lead to a new recessive ataxia with spasticity and mitochondrial defects.

Seong E, Insolera R, Dulovic M, Kamsteeg EJ, Trinh J, Brüggemann N, Sandford E, Li S, Ozel AB, Li JZ, Jewett T, Kievit AJA, Münchau A, Shakkottai V, Klein C, Collins CA, Lohmann K, van de Warrenburg BP, Burmeister M.

Ann Neurol. 2018 Jun;83(6):1075-1088. doi: 10.1002/ana.25220. Epub 2018 Jun 30.

6.

PRICKLE2 Mutations Might Not Be Involved in Epilepsy.

Sandford E, Bird TD, Li JZ, Burmeister M.

Am J Hum Genet. 2016 Mar 3;98(3):588-589. doi: 10.1016/j.ajhg.2016.01.009. No abstract available.

7.

Mutation in ATG5 reduces autophagy and leads to ataxia with developmental delay.

Kim M, Sandford E, Gatica D, Qiu Y, Liu X, Zheng Y, Schulman BA, Xu J, Semple I, Ro SH, Kim B, Mavioglu RN, Tolun A, Jipa A, Takats S, Karpati M, Li JZ, Yapici Z, Juhasz G, Lee JH, Klionsky DJ, Burmeister M.

Elife. 2016 Jan 26;5. pii: e12245. doi: 10.7554/eLife.12245.

8.

Evaluation of exome sequencing variation in undiagnosed ataxias.

Sandford E, Li JZ, Burmeister M.

Brain. 2015 Oct;138(Pt 10):e383. doi: 10.1093/brain/awv087. Epub 2015 Apr 4. No abstract available.

9.

Genes and genetic testing in hereditary ataxias.

Sandford E, Burmeister M.

Genes (Basel). 2014 Jul 22;5(3):586-603. doi: 10.3390/genes5030586.

10.

Strong concordance between transcriptomic patterns of spleen and peripheral blood leukocytes in response to avian pathogenic Escherichia coli infection.

Sandford EE, Orr M, Li X, Zhou H, Johnson TJ, Kariyawasam S, Liu P, Nolan LK, Lamont SJ.

Avian Dis. 2012 Dec;56(4):732-6.

PMID:
23397846
11.

Impacts of Salmonella enteritidis infection on liver transcriptome in broilers.

Coble DJ, Sandford EE, Ji T, Abernathy J, Fleming D, Zhao H, Lamont SJ.

Genesis. 2013 May;51(5):357-64. doi: 10.1002/dvg.22351.

PMID:
23097340
12.

Deep sequencing-based transcriptome analysis of chicken spleen in response to avian pathogenic Escherichia coli (APEC) infection.

Nie Q, Sandford EE, Zhang X, Nolan LK, Lamont SJ.

PLoS One. 2012;7(7):e41645. doi: 10.1371/journal.pone.0041645. Epub 2012 Jul 31.

13.

Capturing skin properties from dynamic mechanical analyses.

Sandford E, Chen Y, Hunter I, Hillebrand G, Jones L.

Skin Res Technol. 2013 Feb;19(1):e339-48. doi: 10.1111/j.1600-0846.2012.00649.x. Epub 2012 Jun 7.

PMID:
22672357
14.

Leukocyte transcriptome from chickens infected with avian pathogenic Escherichia coli identifies pathways associated with resistance.

Sandford EE, Orr M, Shelby M, Li X, Zhou H, Johnson TJ, Kariyawasam S, Liu P, Nolan LK, Lamont SJ.

Results Immunol. 2012 Mar 1;2:44-53. doi: 10.1016/j.rinim.2012.02.003. eCollection 2012.

15.

Spleen transcriptome response to infection with avian pathogenic Escherichia coli in broiler chickens.

Sandford EE, Orr M, Balfanz E, Bowerman N, Li X, Zhou H, Johnson TJ, Kariyawasam S, Liu P, Nolan LK, Lamont SJ.

BMC Genomics. 2011 Sep 27;12:469. doi: 10.1186/1471-2164-12-469.

16.

Extent and consistency of linkage disequilibrium and identification of DNA markers for production and egg quality traits in commercial layer chicken populations.

Abasht B, Sandford E, Arango J, Settar P, Fulton JE, O'Sullivan NP, Hassen A, Habier D, Fernando RL, Dekkers JC, Lamont SJ.

BMC Genomics. 2009 Jul 14;10 Suppl 2:S2. doi: 10.1186/1471-2164-10-S2-S2.

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