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Department of Genetics faculty, postdocs, students and collaborators published eleven papers during Jan. 28-Feb. 10, 2018.

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Anticipated responses of early adopter genetic specialists and nongenetic specialists to unsolicited genomic secondary findings.

Christensen KD, Bernhardt BA, Jarvik GP, Hindorff LA, Ou J, Biswas S, Powell BC, Grundmeier RW, Machini K, Karavite DJ, Pennington JW, Krantz ID, Berg JS, Goddard KAB.

Genet Med. 2018 Feb 1. doi: 10.1038/gim.2017.243. [Epub ahead of print]

PMID: 29388940

Pathological response in a triple negative breast cancer cohort treated with neoadjuvant carboplatin and docetaxel according to Lehmann’s refined classification.

Echavarría I, López-Tarruella S, Picornell AC, Garcia-Saenz JA, Jerez-Gilarranz Y, Hoadley KA, Gomez H, Moreno F, Del Monte-Millán M, Marquez-Rodas I, Alvarez EL, Ramos-Medina R, Gayarre J, Massarrah T, Ocaña I, Cebollero M, Fuentes H, Barnadas A, Ballesteros AI, Bohn U, Perou CM, Martín M.

Clin Cancer Res. 2018 Jan 29. pii: clincanres.1912.2017. doi: 10.1158/1078-0432.CCR-17-1912. [Epub ahead of print]

PMID: 29378733

GWAS of epigenetic aging rates in blood reveals a critical role for TERT.

Lu AT, Xue L, Salfati EL, Chen BH, Ferrucci L, Levy D, Joehanes R, Murabito JM, Kiel DP, Tsai PC, Yet I, Bell JT, Mangino M, Tanaka T, McRae AF, Marioni RE, Visscher PM, Wray NR, Deary IJ, Levine ME, Quach A, Assimes T, Tsao PS, Absher D, Stewart JD, Li Y, Reiner AP, Hou L, Baccarelli AA, Whitsel EA, Aviv A, Cardona A, Day FR, Wareham NJ, Perry JRB, Ong KK, Raj K, Lunetta KL, Horvath S.

Nat Commun. 2018 Jan 26;9(1):387. doi: 10.1038/s41467-017-02697-5.

PMID: 29374233

Genetic variation in the exome: Associations with alcohol and tobacco co-use.

Otto JM, Gizer IR, Ellingson JM, Wilhelmsen KC.

Psychol Addict Behav. 2017 May;31(3):354-366. doi: 10.1037/adb0000270. Epub 2017 Apr 3.

PMID: 28368157

Intravenous cocaine self-administration in a panel of inbred mouse strains differing in acute locomotor sensitivity to cocaine.

Roberts AJ, Casal L, Huitron-Resendiz S, Thompson T, Tarantino LM.

Psychopharmacology (Berl). 2018 Jan 29. doi: 10.1007/s00213-018-4834-7. [Epub ahead of print]

PMID: 29423710

Diagnostic utility of exome sequencing in the evaluation of neuromuscular disorders.

Haskell GT, Adams MC, Fan Z, Amin K, Guzman Badillo RJ, Zhou L, Bizon C, Chahin N, Greenwood RS, Milko LV, Shiloh-Malawsky Y, Crooks KR, Strande N, Tennison M, Tilley CR, Brandt A, Wilhelmsen KC, Weck K, Evans JP, Berg JS.

Neurol Genet. 2018 Feb 1;4(1):e212. doi: 10.1212/NXG.0000000000000212. eCollection 2018 Feb.

PMID: 29417091

Asparagine bioavailability governs metastasis in a model of breast cancer.

Knott SRV, Wagenblast E, Khan S, Kim SY, Soto M, Wagner M, Turgeon MO, Fish L, Erard N, Gable AL, Maceli AR, Dickopf S, Papachristou EK, D’Santos CS, Carey LA, Wilkinson JE, Harrell JC, Perou CM, Goodarzi H, Poulogiannis G, Hannon GJ.

Nature. 2018 Feb 7. doi: 10.1038/nature25465. [Epub ahead of print]

PMID: 29414946

Identification of trans Protein QTL for Secreted Airway Mucins in Mice and a Causal Role for Bpifb1.

Donoghue LJ, Livraghi-Butrico A, McFadden KM, Thomas JM, Chen G, Grubb BR, O’Neal WK, Boucher RC, Kelada SNP.

Genetics. 2017 Oct;207(2):801-812. doi: 10.1534/genetics.117.300211. Epub 2017 Aug 29.

PMID: 28851744

Selenium in infant formula milk.

He MJ, Zhang SQ, Mu W, Huang ZW.

Asia Pac J Clin Nutr. 2018;27(2):284-292. doi: 10.6133/apjcn.042017.12.

PMID: 29384312

Integrative pipeline for profiling DNA copy number and inferring tumor phylogeny.

Urrutia E, Chen H, Zhou Z, Zhang NR, Jiang Y.

Bioinformatics. 2018 Feb 5. doi: 10.1093/bioinformatics/bty057. [Epub ahead of print]

PMID: 29415173

Co-occurring Down syndrome and SUCLA2-related mitochondrial depletion syndrome.

Couser NL, Marchuk DS, Smith LD, Arreola A, Kaiser-Rogers KA, Muenzer J, Pandya A, Gucsavas-Calikoglu M, Powell CM.

Am J Med Genet A. 2017 Oct;173(10):2720-2724. doi: 10.1002/ajmg.a.38351. Epub 2017 Jul 27.

PMID: 28749033