My Bibliography

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Nambot S, Faivre L, Mirzaa G, Thevenon J, Bruel AL, Mosca-Boidron AL, Masurel-Paulet A, Goldenberg A, Le Meur N, Charollais A, Mignot C, Petit F, Rossi M, Metreau J, Layet V, Amram D, Boute-Bénéjean O, Bhoj E, Cousin MA, Kruisselbrink TM, Lanpher BC, Klee EW, Fiala E, Grange DK, Meschino WS, Hiatt SM, Cooper GM, Olivié H, Smith WE, Dumas M, Lehman A, Inglese C, Nizon M, Guerrini R, Vetro A, Kaplan ES, Miramar D, Van Gils J, Fergelot P, Bodamer O, Herkert JC, Pajusalu S, Õunap K, Filiano JJ, Smol T, Piton A, Gérard B, Chantot-Bastaraud S, Bienvenu T, Li D, Juusola J, Devriendt K, Bilan F, Poé C, Chevarin M, Jouan T, Tisserant E, Rivière JB, Tran Mau-Them F, Philippe C, Duffourd Y, Dobyns WB, Hevner R, Thauvin-Robinet C. De novo TBR1 variants cause a neurocognitive phenotype with ID and autistic traits: report of 25 new individuals and review of the literature. Eur J Hum Genet. 2020 Jun;28(6):770-782. doi: 10.1038/s41431-020-0571-6. Epub 2020 Jan 31. PubMed PMID: 32005960; PubMed Central PMCID: PMC7253452.

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Scott TM, Guo H, Eichler EE, Rosenfeld JA, Pang K, Liu Z, Lalani S, Bi W, Yang Y, Bacino CA, Streff H, Lewis AM, Koenig MK, Thiffault I, Bellomo A, Everman DB, Jones JR, Stevenson RE, Bernier R, Gilissen C, Pfundt R, Hiatt SM, Cooper GM, Holder JL, Scott DA. BAZ2B haploinsufficiency as a cause of developmental delay, intellectual disability, and autism spectrum disorder. Hum Mutat. 2020 May;41(5):921-925. doi: 10.1002/humu.23992. Epub 2020 Feb 7. PubMed PMID: 31999386; PubMed Central PMCID: PMC7262739.

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Davis BH, Boehme AK, Pamboukian SV, Allon M, George JF, Dillon C, Kirklin JK, Tallaj J, Levitan EB, Griffin R, McGwin G Jr, Beasley TM, Limdi NA. Improvement in Kidney Function After Ventricular Assist Device Implantation and Its Influence on Thromboembolism, Hemorrhage, and Mortality. ASAIO J. 2020 Mar;66(3):268-276. doi: 10.1097/MAT.0000000000000989. PubMed PMID: 30883405; PubMed Central PMCID: PMC6744354.

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Nizon M, Laugel V, Flanigan KM, Pastore M, Waldrop MA, Rosenfeld JA, Marom R, Xiao R, Gerard A, Pichon O, Le Caignec C, Gérard M, Dieterich K, Truitt Cho M, McWalter K, Hiatt S, Thompson ML, Bézieau S, Wadley A, Wierenga KJ, Egly JM, Isidor B. Variants in MED12L, encoding a subunit of the mediator kinase module, are responsible for intellectual disability associated with transcriptional defect. Genet Med. 2019 Dec;21(12):2713-2722. doi: 10.1038/s41436-019-0557-3. Epub 2019 Jun 3. PubMed PMID: 31155615; PubMed Central PMCID: PMC7243155.

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Robinson JO, Wynn J, Biesecker B, Biesecker LG, Bernhardt B, Brothers KB, Chung WK, Christensen KD, Green RC, McGuire AL, Hart MR, Griesemer I, Patrick DL, Rini C, Veenstra D, Cronin AM, Gray SW. Psychological outcomes related to exome and genome sequencing result disclosure: a meta-analysis of seven Clinical Sequencing Exploratory Research (CSER) Consortium studies. Genet Med. 2019 Dec;21(12):2781-2790. doi: 10.1038/s41436-019-0565-3. Epub 2019 Jun 13. PubMed PMID: 31189963; PubMed Central PMCID: PMC7260995.

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Neu MB, Bowling KM, Cooper GM. Clinical utility of genomic sequencing. Curr Opin Pediatr. 2019 Dec;31(6):732-738. doi: 10.1097/MOP.0000000000000815. Review. PubMed PMID: 31693580; PubMed Central PMCID: PMC7197344.

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Le Duc D, Giulivi C, Hiatt SM, Napoli E, Panoutsopoulos A, Harlan De Crescenzo A, Kotzaeridou U, Syrbe S, Anagnostou E, Azage M, Bend R, Begtrup A, Brown NJ, Büttner B, Cho MT, Cooper GM, Doering JH, Dubourg C, Everman DB, Hildebrand MS, Santos FJR, Kellam B, Keller-Ramey J, Lemke JR, Liu S, Niyazov D, Payne K, Person R, Quélin C, Schnur RE, Smith BT, Strober J, Walker S, Wallis M, Walsh L, Yang S, Yuen RKC, Ziegler A, Sticht H, Pride MC, Orosco L, Martínez-Cerdeño V, Silverman JL, Crawley JN, Scherer SW, Zarbalis KS, Jamra R. Pathogenic WDFY3 variants cause neurodevelopmental disorders and opposing effects on brain size. Brain. 2019 Sep 1;142(9):2617-2630. doi: 10.1093/brain/awz198. PubMed PMID: 31327001; PubMed Central PMCID: PMC6736092.

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Childerhose JE, Finnila CR, Yu JH, Koenig BA, McEwen J, Berg SL, Wilfond BS, Appelbaum PS, Brothers KB. Participant Engagement in Translational Genomics Research: Respect for Persons-and Then Some. Ethics Hum Res. 2019 Sep;41(5):2-15. doi: 10.1002/eahr.500029. PubMed PMID: 31541538; PubMed Central PMCID: PMC7199158.

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Yu JH, Appelbaum PS, Brothers KB, Joffe S, Kauffman TL, Koenig BA, Prince AE, Scollon S, Wolf SM, Bernhardt BA, Wilfond BS. Consent for clinical genome sequencing: considerations from the Clinical Sequencing Exploratory Research Consortium. Per Med. 2019 Jul;16(4):325-333. doi: 10.2217/pme-2018-0076. Epub 2019 Jul 17. PubMed PMID: 31313633; PubMed Central PMCID: PMC6681646.

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Johnson MR, Barsh GS, Mallarino R. Periodic patterns in Rodentia: Development and evolution. Exp Dermatol. 2019 Apr;28(4):509-513. doi: 10.1111/exd.13852. Epub 2019 Jan 15. PubMed PMID: 30506729; PubMed Central PMCID: PMC6488409.

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Genova F, Longeri M, Lyons LA, Bagnato A, Strillacci MG. First genome-wide CNV mapping in FELIS CATUS using next generation sequencing data. BMC Genomics. 2018 Dec 10;19(1):895. doi: 10.1186/s12864-018-5297-2. PubMed PMID: 30526495; PubMed Central PMCID: PMC6288940.

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Bogren LK, Grabek KR, Barsh GS, Martin SL. Comparative tissue transcriptomics highlights dynamic differences among tissues but conserved metabolic transcript prioritization in preparation for arousal from torpor. J Comp Physiol B. 2017 Jul;187(5-6):735-748. doi: 10.1007/s00360-017-1073-x. Epub 2017 Mar 23. PubMed PMID: 28332019.

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Lloyd-Jones LR, Robinson MR, Moser G, Zeng J, Beleza S, Barsh GS, Tang H, Visscher PM. Inference on the Genetic Basis of Eye and Skin Color in an Admixed Population via Bayesian Linear Mixed Models. Genetics. 2017 Jun;206(2):1113-1126. doi: 10.1534/genetics.116.193383. Epub 2017 Apr 4. PubMed PMID: 28381588; PubMed Central PMCID: PMC5499166.

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Oh A, Pearce JW, Gandolfi B, Creighton EK, Suedmeyer WK, Selig M, Bosiack AP, Castaner LJ, Whiting RE, Belknap EB, Lyons LA. Early-Onset Progressive Retinal Atrophy Associated with an IQCB1 Variant in African Black-Footed Cats (Felis nigripes). Sci Rep. 2017 Mar 21;7:43918. doi: 10.1038/srep43918. PubMed PMID: 28322220; PubMed Central PMCID: PMC5359545.

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Mauler DA, Gandolfi B, Reinero CR, O'Brien DP, Spooner JL, Lyons LA. Precision Medicine in Cats: Novel Niemann-Pick Type C1 Diagnosed by Whole-Genome Sequencing. J Vet Intern Med. 2017 Mar;31(2):539-544. doi: 10.1111/jvim.14599. Epub 2017 Feb 24. PubMed PMID: 28233346; PubMed Central PMCID: PMC5354023.

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Brothers KB, East KM, Kelley WV, Wright MF, Westbrook MJ, Rich CA, Bowling KM, Lose EJ, Bebin EM, Simmons S, Myers JA, Barsh G, Myers RM, Cooper GM, Pulley JM, Rothstein MA, Clayton EW. Eliciting preferences on secondary findings: the Preferences Instrument for Genomic Secondary Results. Genet Med. 2017 Mar;19(3):337-344. doi: 10.1038/gim.2016.110. Epub 2016 Aug 25. PubMed PMID: 27561086; PubMed Central PMCID: PMC5326612.

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Selleri L, Bartolomei MS, Bickmore WA, He L, Stubbs L, Reik W, Barsh GS. A Hox-Embedded Long Noncoding RNA: Is It All Hot Air?. PLoS Genet. 2016 Dec;12(12):e1006485. doi: 10.1371/journal.pgen.1006485. eCollection 2016 Dec. PubMed PMID: 27977680; PubMed Central PMCID: PMC5157941.

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Kintzing JR, Filsinger Interrante MV, Cochran JR. Emerging Strategies for Developing Next-Generation Protein Therapeutics for Cancer Treatment. Trends Pharmacol Sci. 2016 Dec;37(12):993-1008. doi: 10.1016/j.tips.2016.10.005. Epub 2016 Nov 9. Review. PubMed PMID: 27836202; PubMed Central PMCID: PMC6238641.

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Barsh GS, Bergman CM, Brown CD, Singh ND, Copenhaver GP. Bringing PLOS Genetics Editors to Preprint Servers. PLoS Genet. 2016 Dec;12(12):e1006448. doi: 10.1371/journal.pgen.1006448. eCollection 2016 Dec. PubMed PMID: 27906975; PubMed Central PMCID: PMC5131892.

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Mallarino R, Henegar C, Mirasierra M, Manceau M, Schradin C, Vallejo M, Beronja S, Barsh GS, Hoekstra HE. Developmental mechanisms of stripe patterns in rodents. Nature. 2016 Nov 24;539(7630):518-523. doi: 10.1038/nature20109. Epub 2016 Nov 2. PubMed PMID: 27806375; PubMed Central PMCID: PMC5292240.

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Barsh G. Evolution: Sex, Diet and Red Ketocarotenoids. Curr Biol. 2016 Nov 7;26(21):R1145-R1147. doi: 10.1016/j.cub.2016.09.032. PubMed PMID: 27825451.

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Barsh GS, Copenhaver GP. The Language of Genetics In the Interviews of Jane Gitschier. PLoS Genet. 2016 Jun;12(6):e1006115. doi: 10.1371/journal.pgen.1006115. eCollection 2016 Jun. PubMed PMID: 27310726; PubMed Central PMCID: PMC4911117.

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McGowan KA, Barsh GS. Evolution: How the zebrafish got its stripes. Elife. 2016 Feb 15;5. doi: 10.7554/eLife.14239. PubMed PMID: 26880558; PubMed Central PMCID: PMC4764550.

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Imsland F, McGowan K, Rubin CJ, Henegar C, Sundström E, Berglund J, Schwochow D, Gustafson U, Imsland P, Lindblad-Toh K, Lindgren G, Mikko S, Millon L, Wade C, Schubert M, Orlando L, Penedo MC, Barsh GS, Andersson L. Regulatory mutations in TBX3 disrupt asymmetric hair pigmentation that underlies Dun camouflage color in horses. Nat Genet. 2016 Feb;48(2):152-8. doi: 10.1038/ng.3475. Epub 2015 Dec 21. PubMed PMID: 26691985; PubMed Central PMCID: PMC4731265.

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Barsh GS, Cooper GM, Copenhaver GP, Gibson G, McCarthy MI, Tang H, Williams SM. PLOS Genetics Data Sharing Policy: In Pursuit of Functional Utility. PLoS Genet. 2015 Dec;11(12):e1005716. doi: 10.1371/journal.pgen.1005716. eCollection 2015 Dec. PubMed PMID: 26655768; PubMed Central PMCID: PMC4678900.

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Nix MA, Kaelin CB, Palomino R, Miller JL, Barsh GS, Millhauser GL. Electrostatic Similarity Analysis of Human β-Defensin Binding in the Melanocortin System. Biophys J. 2015 Nov 3;109(9):1946-58. doi: 10.1016/j.bpj.2015.09.005. PubMed PMID: 26536271; PubMed Central PMCID: PMC4643202.

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Copenhaver GP, Barsh GS. A Decad(e) of Reasons to Contribute to a PLOS Community-Run Journal. PLoS Genet. 2015 Oct;11(10):e1005557. doi: 10.1371/journal.pgen.1005557. eCollection 2015 Oct. PubMed PMID: 26436996; PubMed Central PMCID: PMC4593542.

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Dorshorst B, Henegar C, Liao X, Sällman Almén M, Rubin CJ, Ito S, Wakamatsu K, Stothard P, Van Doormaal B, Plastow G, Barsh GS, Andersson L. Dominant Red Coat Color in Holstein Cattle Is Associated with a Missense Mutation in the Coatomer Protein Complex, Subunit Alpha (COPA) Gene. PLoS One. 2015;10(6):e0128969. doi: 10.1371/journal.pone.0128969. eCollection 2015. PubMed PMID: 26042826; PubMed Central PMCID: PMC4456281.

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Schneider A, Henegar C, Day K, Absher D, Napolitano C, Silveira L, David VA, O'Brien SJ, Menotti-Raymond M, Barsh GS, Eizirik E. Recurrent evolution of melanism in South American felids. PLoS Genet. 2015 Feb;11(2):e1004892. doi: 10.1371/journal.pgen.1004892. eCollection 2015 Feb. PubMed PMID: 25695801; PubMed Central PMCID: PMC4335015.

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Grabek KR, Diniz Behn C, Barsh GS, Hesselberth JR, Martin SL. Enhanced stability and polyadenylation of select mRNAs support rapid thermogenesis in the brown fat of a hibernator. Elife. 2015 Jan 27;4. doi: 10.7554/eLife.04517. PubMed PMID: 25626169; PubMed Central PMCID: PMC4383249.

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Jarvik GP, Amendola LM, Berg JS, Brothers K, Clayton EW, Chung W, Evans BJ, Evans JP, Fullerton SM, Gallego CJ, Garrison NA, Gray SW, Holm IA, Kullo IJ, Lehmann LS, McCarty C, Prows CA, Rehm HL, Sharp RR, Salama J, Sanderson S, Van Driest SL, Williams MS, Wolf SM, Wolf WA, Burke W. Return of genomic results to research participants: the floor, the ceiling, and the choices in between. Am J Hum Genet. 2014 Jun 5;94(6):818-26. doi: 10.1016/j.ajhg.2014.04.009. Epub 2014 May 8. PubMed PMID: 24814192; PubMed Central PMCID: PMC4121476.

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Claes P, Liberton DK, Daniels K, Rosana KM, Quillen EE, Pearson LN, McEvoy B, Bauchet M, Zaidi AA, Yao W, Tang H, Barsh GS, Absher DM, Puts DA, Rocha J, Beleza S, Pereira RW, Baynam G, Suetens P, Vandermeulen D, Wagner JK, Boster JS, Shriver MD. Modeling 3D facial shape from DNA. PLoS Genet. 2014 Mar;10(3):e1004224. doi: 10.1371/journal.pgen.1004224. eCollection 2014 Mar. PubMed PMID: 24651127; PubMed Central PMCID: PMC3961191.

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Warne JP, Varonin JM, Nielsen SS, Olofsson LE, Kaelin CB, Chua S Jr, Barsh GS, Koliwad SK, Xu AW. Coordinated regulation of hepatic energy stores by leptin and hypothalamic agouti-related protein. J Neurosci. 2013 Jul 17;33(29):11972-85. doi: 10.1523/JNEUROSCI.0830-13.2013. PubMed PMID: 23864684; PubMed Central PMCID: PMC3713731.

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Barsh GS, Myers RM. David R. Cox 1946-2013. Nat Genet. 2013 Jul;45(7):716. doi: 10.1038/ng.2679. PubMed PMID: 23800862.

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Nix MA, Kaelin CB, Ta T, Weis A, Morton GJ, Barsh GS, Millhauser GL. Molecular and functional analysis of human β-defensin 3 action at melanocortin receptors. Chem Biol. 2013 Jun 20;20(6):784-95. doi: 10.1016/j.chembiol.2013.04.015. PubMed PMID: 23790489; PubMed Central PMCID: PMC3714013.

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Beleza S, Johnson NA, Candille SI, Absher DM, Coram MA, Lopes J, Campos J, Araújo II, Anderson TM, Vilhjálmsson BJ, Nordborg M, Correia E Silva A, Shriver MD, Rocha J, Barsh GS, Tang H. Genetic architecture of skin and eye color in an African-European admixed population. PLoS Genet. 2013 Mar;9(3):e1003372. doi: 10.1371/journal.pgen.1003372. Epub 2013 Mar 21. PubMed PMID: 23555287; PubMed Central PMCID: PMC3605137.

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Barsh GS, Andersson L. Evolutionary genomics: Detecting selection. Nature. 2013 Mar 21;495(7441):325-6. doi: 10.1038/495325a. PubMed PMID: 23518561.

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Silvius D, Pitstick R, Ahn M, Meishery D, Oehler A, Barsh GS, DeArmond SJ, Carlson GA, Gunn TM. Levels of the Mahogunin Ring Finger 1 E3 ubiquitin ligase do not influence prion disease. PLoS One. 2013;8(1):e55575. doi: 10.1371/journal.pone.0055575. Epub 2013 Jan 30. PubMed PMID: 23383230; PubMed Central PMCID: PMC3559536.

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Kaelin CB, Barsh GS. Genetics of pigmentation in dogs and cats. Annu Rev Anim Biosci. 2013 Jan;1:125-56. doi: 10.1146/annurev-animal-031412-103659. Epub 2013 Jan 3. Review. PubMed PMID: 25387014.

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Schneider A, David VA, Johnson WE, O'Brien SJ, Barsh GS, Menotti-Raymond M, Eizirik E. How the leopard hides its spots: ASIP mutations and melanism in wild cats. PLoS One. 2012;7(12):e50386. doi: 10.1371/journal.pone.0050386. Epub 2012 Dec 12. PubMed PMID: 23251368; PubMed Central PMCID: PMC3520955.

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Candille SI, Absher DM, Beleza S, Bauchet M, McEvoy B, Garrison NA, Li JZ, Myers RM, Barsh GS, Tang H, Shriver MD. Genome-wide association studies of quantitatively measured skin, hair, and eye pigmentation in four European populations. PLoS One. 2012;7(10):e48294. doi: 10.1371/journal.pone.0048294. Epub 2012 Oct 31. PubMed PMID: 23118974; PubMed Central PMCID: PMC3485197.

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Kaelin CB, Xu X, Hong LZ, David VA, McGowan KA, Schmidt-Küntzel A, Roelke ME, Pino J, Pontius J, Cooper GM, Manuel H, Swanson WF, Marker L, Harper CK, van Dyk A, Yue B, Mullikin JC, Warren WC, Eizirik E, Kos L, O'Brien SJ, Barsh GS, Menotti-Raymond M. Specifying and sustaining pigmentation patterns in domestic and wild cats. Science. 2012 Sep 21;337(6101):1536-41. doi: 10.1126/science.1220893. PubMed PMID: 22997338; PubMed Central PMCID: PMC3709578.

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Barsh GS, Copenhaver GP, Gibson G, Williams SM. Guidelines for genome-wide association studies. PLoS Genet. 2012 Jul;8(7):e1002812. doi: 10.1371/journal.pgen.1002812. Epub 2012 Jul 5. PubMed PMID: 22792080; PubMed Central PMCID: PMC3390399.

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Kronforst MR, Barsh GS, Kopp A, Mallet J, Monteiro A, Mullen SP, Protas M, Rosenblum EB, Schneider CJ, Hoekstra HE. Unraveling the thread of nature's tapestry: the genetics of diversity and convergence in animal pigmentation. Pigment Cell Melanoma Res. 2012 Jul;25(4):411-33. doi: 10.1111/j.1755-148X.2012.01014.x. Review. PubMed PMID: 22578174.

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Sabolek HR, Swiercz WB, Lillis KP, Cash SS, Huberfeld G, Zhao G, Ste Marie L, Clemenceau S, Barsh G, Miles R, Staley KJ. A candidate mechanism underlying the variance of interictal spike propagation. J Neurosci. 2012 Feb 29;32(9):3009-21. doi: 10.1523/JNEUROSCI.5853-11.2012. PubMed PMID: 22378874; PubMed Central PMCID: PMC3319688.

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Johnson NA, Coram MA, Shriver MD, Romieu I, Barsh GS, London SJ, Tang H. Ancestral components of admixed genomes in a Mexican cohort. PLoS Genet. 2011 Dec;7(12):e1002410. doi: 10.1371/journal.pgen.1002410. Epub 2011 Dec 15. PubMed PMID: 22194699; PubMed Central PMCID: PMC3240599.

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Hong LZ, Li J, Schmidt-Küntzel A, Warren WC, Barsh GS. Digital gene expression for non-model organisms. Genome Res. 2011 Nov;21(11):1905-15. doi: 10.1101/gr.122135.111. Epub 2011 Aug 15. PubMed PMID: 21844123; PubMed Central PMCID: PMC3205575.

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McGowan KA, Pang WW, Bhardwaj R, Perez MG, Pluvinage JV, Glader BE, Malek R, Mendrysa SM, Weissman IL, Park CY, Barsh GS. Reduced ribosomal protein gene dosage and p53 activation in low-risk myelodysplastic syndrome. Blood. 2011 Sep 29;118(13):3622-33. doi: 10.1182/blood-2010-11-318584. Epub 2011 Jul 25. PubMed PMID: 21788341; PubMed Central PMCID: PMC3186336.

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Kelsh RN, Barsh GS. A nervous origin for fish stripes. PLoS Genet. 2011 May;7(5):e1002081. doi: 10.1371/journal.pgen.1002081. Epub 2011 May 19. PubMed PMID: 21625563; PubMed Central PMCID: PMC3098193.

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Cao Y, Nakata M, Okamoto S, Takano E, Yada T, Minokoshi Y, Hirata Y, Nakajima K, Iskandar K, Hayashi Y, Ogawa W, Barsh GS, Hosoda H, Kangawa K, Itoh H, Noda T, Kasuga M, Nakae J. PDK1-Foxo1 in agouti-related peptide neurons regulates energy homeostasis by modulating food intake and energy expenditure. PLoS One. 2011;6(4):e18324. doi: 10.1371/journal.pone.0018324. Epub 2011 Apr 7. PubMed PMID: 21694754; PubMed Central PMCID: PMC3072380.