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Department of Genetics faculty, postdocs, students and collaborators published fourteen papers during Feb. 11-24, 2018.

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The Integrated Genomic Landscape of Thymic Epithelial Tumors.

Radovich M, Pickering CR, Felau I, Ha G, Zhang H, Jo H, Hoadley KA, Anur P, Zhang J, McLellan M, Bowlby R, Matthew T, Danilova L, Hegde AM, Kim J, Leiserson MDM, Sethi G, Lu C, Ryan M, Su X, Cherniack AD, Robertson G, Akbani R, Spellman P, Weinstein JN, Hayes DN, Raphael B, Lichtenberg T, Leraas K, Zenklusen JC; Cancer Genome Atlas Network, Fujimoto J, Scapulatempo-Neto C, Moreira AL, Hwang D, Huang J, Marino M, Korst R, Giaccone G, Gokmen-Polar Y, Badve S, Rajan A, Ströbel P, Girard N, Tsao MS, Marx A, Tsao AS, Loehrer PJ.

Cancer Cell. 2018 Feb 12;33(2):244-258.e10. doi: 10.1016/j.ccell.2018.01.003.

PMID: 29438696

Identification of genetic risk factors in the Chinese population implicates a role of immune system in Alzheimer’s disease pathogenesis.

Zhou X, Chen Y, Mok KY, Zhao Q, Chen K, Chen Y, Hardy J, Li Y, Fu AKY, Guo Q, Ip NY; Alzheimer’s Disease Neuroimaging Initiative.

Proc Natl Acad Sci U S A. 2018 Feb 5. pii: 201715554. doi: 10.1073/pnas.1715554115. [Epub ahead of print]

PMID: 29432188

Tissue- and strain-specific effects of a genotoxic carcinogen 1,3-butadiene on chromatin and transcription.

Israel JW, Chappell GA, Simon JM, Pott S, Safi A, Lewis L, Cotney P, Boulos HS, Bodnar W, Lieb JD, Crawford GE, Furey TS, Rusyn I.

Mamm Genome. 2018 Feb 10. doi: 10.1007/s00335-018-9739-6. [Epub ahead of print]

PMID: 29429127

Functional genomics and assays of regulatory activity detect mechanisms at loci for lipid traits and coronary artery disease.

Roman TS, Mohlke KL.

Curr Opin Genet Dev. 2018 Feb 19;50:52-59. doi: 10.1016/j.gde.2018.02.004. [Epub ahead of print] Review.

PMID: 29471259

Tissue-specific and mosaic imprinting defects underlie opposite congenital growth disorders in mice.

Freschi A, Hur SK, Valente FM, Ideraabdullah FY, Sparago A, Gentile MT, Oneglia A, Di Nucci D, Colucci-D’Amato L, Thorvaldsen JL, Bartolomei MS, Riccio A, Cerrato F.

PLoS Genet. 2018 Feb 22;14(2):e1007243. doi: 10.1371/journal.pgen.1007243. [Epub ahead of print]

PMID: 29470501

A Large-Scale Multi-ancestry Genome-wide Study Accounting for Smoking Behavior Identifies Multiple Significant Loci for Blood Pressure.

Sung YJ, Winkler TW, de Las Fuentes L, Bentley AR, Brown MR, Kraja AT, Schwander K, Ntalla I, Guo X, Franceschini N, Lu Y, Cheng CY, Sim X, Vojinovic D, Marten J, Musani SK, Li C, Feitosa MF, Kilpeläinen TO, Richard MA, Noordam R, Aslibekyan S, Aschard H, Bartz TM, Dorajoo R, Liu Y, Manning AK, Rankinen T, Smith AV, Tajuddin SM, Tayo BO, Warren HR, Zhao W, Zhou Y, Matoba N, Sofer T, Alver M, Amini M, Boissel M, Chai JF, Chen X, Divers J, Gandin I, Gao C, Giulianini F, Goel A, Harris SE, Hartwig FP, Horimoto ARVR, Hsu FC, Jackson AU, Kähönen M, Kasturiratne A, Kühnel B, Leander K, Lee WJ, Lin KH, ‘an Luan J, McKenzie CA, Meian H, Nelson CP, Rauramaa R, Schupf N, Scott RA, Sheu WHH, Stančáková A, Takeuchi F, van der Most PJ, Varga TV, Wang H, Wang Y, Ware EB, Weiss S, Wen W, Yanek LR, Zhang W, Zhao JH, Afaq S, Alfred T, Amin N, Arking D, Aung T, Barr RG, Bielak LF, Boerwinkle E, Bottinger EP, Braund PS, Brody JA, Broeckel U, Cabrera CP, Cade B, Caizheng Y, Campbell A, Canouil M, Chakravarti A; CHARGE Neurology Working Group, Chauhan G, Christensen K, Cocca M; COGENT-Kidney Consortium, Collins FS, Connell JM, de Mutsert R, de Silva HJ, Debette S, Dörr M, Duan Q, Eaton CB, Ehret G, Evangelou E, Faul JD, Fisher VA, Forouhi NG, Franco OH, Friedlander Y, Gao H; GIANT Consortium, Gigante B, Graff M, Gu CC, Gu D, Gupta P, Hagenaars SP, Harris TB, He J, Heikkinen S, Heng CK, Hirata M, Hofman A, Howard BV, Hunt S, Irvin MR, Jia Y, Joehanes R, Justice AE, Katsuya T, Kaufman J, Kerrison ND, Khor CC, Koh WP, Koistinen HA, Komulainen P, Kooperberg C, Krieger JE, Kubo M, Kuusisto J, Langefeld CD, Langenberg C, Launer LJ, Lehne B, Lewis CE, Li Y; Lifelines Cohort Study, Lim SH, Lin S, Liu CT, Liu J, Liu J, Liu K, Liu Y, Loh M, Lohman KK, Long J, Louie T, Mägi R, Mahajan A, Meitinger T, Metspalu A, Milani L, Momozawa Y, Morris AP, Mosley TH Jr., Munson P, Murray AD, Nalls MA, Nasri U, Norris JM, North K, Ogunniyi A, Padmanabhan S, Palmas WR, Palmer ND, Pankow JS, Pedersen NL, Peters A, Peyser PA, Polasek O, Raitakari OT, Renström F, Rice TK, Ridker PM, Robino A, Robinson JG, Rose LM, Rudan I, Sabanayagam C, Salako BL, Sandow K, Schmidt CO, Schreiner PJ, Scott WR, Seshadri S, Sever P, Sitlani CM, Smith JA, Snieder H, Starr JM, Strauch K, Tang H, Taylor KD, Teo YY, Tham YC, Uitterlinden AG, Waldenberger M, Wang L, Wang YX, Wei WB, Williams C, Wilson G, Wojczynski MK, Yao J, Yuan JM, Zonderman AB, Becker DM, Boehnke M, Bowden DW, Chambers JC, Chen YI, de Faire U, Deary IJ, Esko T, Farrall M, Forrester T, Franks PW, Freedman BI, Froguel P, Gasparini P, Gieger C, Horta BL, Hung YJ, Jonas JB, Kato N, Kooner JS, Laakso M, Lehtimäki T, Liang KW, Magnusson PKE, Newman AB, Oldehinkel AJ, Pereira AC, Redline S, Rettig R, Samani NJ, Scott J, Shu XO, van der Harst P, Wagenknecht LE, Wareham NJ, Watkins H, Weir DR, Wickremasinghe AR, Wu T, Zheng W, Kamatani Y, Laurie CC, Bouchard C, Cooper RS, Evans MK, Gudnason V, Kardia SLR, Kritchevsky SB, Levy D, O’Connell JR, Psaty BM, van Dam RM, Sims M, Arnett DK, Mook-Kanamori DO, Kelly TN, Fox ER, Hayward C, Fornage M, Rotimi CN, Province MA, van Duijn CM, Tai ES, Wong TY, Loos RJF, Reiner AP, Rotter JI, Zhu X, Bierut LJ, Gauderman WJ, Caulfield MJ, Elliott P, Rice K, Munroe PB, Morrison AC, Cupples LA, Rao DC, Chasman DI.

Am J Hum Genet. 2018 Feb 13. pii: S0002-9297(18)30017-X. doi: 10.1016/j.ajhg.2018.01.015. [Epub ahead of print]

PMID: 29455858

Operationalizing the Reciprocal Engagement Model of Genetic Counseling Practice: a Framework for the Scalable Delivery of Genomic Counseling and Testing.

Schmidlen T, Sturm AC, Hovick S, Scheinfeldt L, Scott Roberts J, Morr L, McElroy J, Toland AE, Christman M, O’Daniel JM, Gordon ES, Bernhardt BA, Ormond KE, Sweet K.

J Genet Couns. 2018 Feb 19. doi: 10.1007/s10897-018-0230-z. [Epub ahead of print]

PMID: 29460110

Analysis of risk factors associated with unilateral hearing loss in children who initially passed newborn hearing screening.

Appelbaum EN, Howell JB, Chapman D, Pandya A, Dodson KM.

Int J Pediatr Otorhinolaryngol. 2018 Mar;106:100-104. doi: 10.1016/j.ijporl.2018.01.024. Epub 2018 Feb 2.

PMID: 29447880

Initiating Events in Direct Cardiomyocyte Reprogramming.

Sauls K, Greco TM, Wang L, Zou M, Villasmil M, Qian L, Cristea IM, Conlon FL.

Cell Rep. 2018 Feb 13;22(7):1913-1922. doi: 10.1016/j.celrep.2018.01.047.

PMID: 29444441

Natural history and genotype-phenotype correlations in 72 individuals with SATB2-associated syndrome.

Zarate YA, Smith-Hicks CL, Greene C, Abbott MA, Siu VM, Calhoun ARUL, Pandya A, Li C, Sellars EA, Kaylor J, Bosanko K, Kalsner L, Basinger A, Slavotinek AM, Perry H, Saenz M, Szybowska M, Wilson LC, Kumar A, Brain C, Balasubramanian M, Dubbs H, Ortiz-Gonzalez XR, Zackai E, Stein Q, Powell CM, Schrier Vergano S, Britt A, Sun A, Smith W, Bebin EM, Picker J, Kirby A, Pinz H, Bombei H, Mahida S, Cohen JS, Fatemi A, Vernon HJ, McClellan R, Fleming LR, Knyszek B, Steinraths M, Velasco Gonzalez C, Beck AE, Golden-Grant KL, Egense A, Parikh A, Raimondi C, Angle B, Allen W, Schott S, Algrabli A, Robin NH, Ray JW, Everman DB, Gambello MJ, Chung WK.

Am J Med Genet A. 2018 Feb 13. doi: 10.1002/ajmg.a.38630. [Epub ahead of print]

PMID: 29436146

Transcription start site profiling uncovers divergent transcription and enhancer-associated RNAs in Drosophila melanogaster.

Meers MP, Adelman K, Duronio RJ, Strahl BD, McKay DJ, Matera AG.

BMC Genomics. 2018 Feb 21;19(1):157. doi: 10.1186/s12864-018-4510-7.

PMID: 29466941

Consequences of VHL Loss on Global DNA Methylome.

Robinson CM, Lefebvre F, Poon BP, Bousard A, Fan X, Lathrop M, Tost J, Kim WY, Riazalhosseini Y, Ohh M.

Sci Rep. 2018 Feb 20;8(1):3313. doi: 10.1038/s41598-018-21524-5.

PMID: 29463811

Bayesian Diallel Analysis Reveals Mx1-Dependent and Mx1-Independent Effects on Response to Influenza A Virus in Mice.

Maurizio PL, Ferris MT, Keele GR, Miller DR, Shaw GD, Whitmore AC, West A, Morrison CR, Noll KE, Plante KS, Cockrell AS, Threadgill DW, Pardo-Manuel de Villena F, Baric RS, Heise MT, Valdar W.

G3 (Bethesda). 2018 Feb 2;8(2):427-445. doi: 10.1534/g3.117.300438.

PMID:  29187420

Dissecting the Genetic Architecture of Shoot Growth in Carrot (Daucus carota L.) Using a Diallel Mating Design.

Turner SD, Maurizio PLValdar W, Yandell BS, Simon PW.

G3 (Bethesda). 2018 Feb 2;8(2):411-426. doi: 10.1534/g3.117.300235.

PMID:  29187419