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Items: 3

1.

AKR1D1 is a novel regulator of metabolic phenotype in human hepatocytes and is dysregulated in non-alcoholic fatty liver disease.

Nikolaou N, Gathercole LL, Marchand L, Althari S, Dempster NJ, Green CJ, van de Bunt M, McNeil C, Arvaniti A, Hughes BA, Sgromo B, Gillies RS, Marschall HU, Penning TM, Ryan J, Arlt W, Hodson L, Tomlinson JW.

Metabolism. 2019 Oct;99:67-80. doi: 10.1016/j.metabol.2019.153947. Epub 2019 Jul 19.

2.

When is it MODY? Challenges in the Interpretation of Sequence Variants in MODY Genes.

Althari S, Gloyn AL.

Rev Diabet Stud. 2015 Fall-Winter;12(3-4):330-48. doi: 10.1900/RDS.2015.12.330. Epub 2016 Feb 10. Review.

3.

Describing sequencing results of structural chromosome rearrangements with a suggested next-generation cytogenetic nomenclature.

Ordulu Z, Wong KE, Currall BB, Ivanov AR, Pereira S, Althari S, Gusella JF, Talkowski ME, Morton CC.

Am J Hum Genet. 2014 May 1;94(5):695-709. doi: 10.1016/j.ajhg.2014.03.020. Epub 2014 Apr 17.

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