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Analysis of Copy Number Variants on Chromosome 21 in Down Syndrome-Associated Congenital Heart Defects.

Rambo-Martin BL, Mulle JG, Cutler DJ, Bean LJH, Rosser TC, Dooley KJ, Cua C, Capone G, Maslen CL, Reeves RH, Sherman SL, Zwick ME.

G3 (Bethesda). 2018 Jan 4;8(1):105-111. doi: 10.1534/g3.117.300366.


The Influence of trisomy 21 on facial form and variability.

Starbuck JM, Cole TM 3rd, Reeves RH, Richtsmeier JT.

Am J Med Genet A. 2017 Nov;173(11):2861-2872. doi: 10.1002/ajmg.a.38464. Epub 2017 Sep 21.


The Arizona Cognitive Test Battery for Down Syndrome: Test-Retest Reliability and Practice Effects.

Edgin JO, Anand P, Rosser T, Pierpont EI, Figueroa C, Hamilton D, Huddleston L, Mason G, Spanò G, Toole L, Nguyen-Driver M, Capone G, Abbeduto L, Maslen C, Reeves RH, Sherman S.

Am J Intellect Dev Disabil. 2017 May;122(3):215-234. doi: 10.1352/1944-7558-122.3.215.


NPTX2 and cognitive dysfunction in Alzheimer's Disease.

Xiao MF, Xu D, Craig MT, Pelkey KA, Chien CC, Shi Y, Zhang J, Resnick S, Pletnikova O, Salmon D, Brewer J, Edland S, Wegiel J, Tycko B, Savonenko A, Reeves RH, Troncoso JC, McBain CJ, Galasko D, Worley PF.

Elife. 2017 Mar 23;6. pii: e23798. doi: 10.7554/eLife.23798.


Increased Sparsity of Hippocampal CA1 Neuronal Ensembles in a Mouse Model of Down Syndrome Assayed by Arc Expression.

Smith-Hicks CL, Cai P, Savonenko AV, Reeves RH, Worley PF.

Front Neural Circuits. 2017 Feb 3;11:6. doi: 10.3389/fncir.2017.00006. eCollection 2017.


DYRK1A regulates Hap1-Dcaf7/WDR68 binding with implication for delayed growth in Down syndrome.

Xiang J, Yang S, Xin N, Gaertig MA, Reeves RH, Li S, Li XJ.

Proc Natl Acad Sci U S A. 2017 Feb 14;114(7):E1224-E1233. doi: 10.1073/pnas.1614893114. Epub 2017 Jan 30.


Editorial: Intellectual Disabilities in Down Syndrome from Birth and Throughout Life: Assessment and Treatment.

Potier MC, Reeves RH.

Front Behav Neurosci. 2016 Jun 14;10:120. doi: 10.3389/fnbeh.2016.00120. eCollection 2016. No abstract available.


Cilia gene mutations cause atrioventricular septal defects by multiple mechanisms.

Burnicka-Turek O, Steimle JD, Huang W, Felker L, Kamp A, Kweon J, Peterson M, Reeves RH, Maslen CL, Gruber PJ, Yang XH, Shendure J, Moskowitz IP.

Hum Mol Genet. 2016 Jul 15;25(14):3011-3028. Epub 2016 Jun 23.


Penetrance of Congenital Heart Disease in a Mouse Model of Down Syndrome Depends on a Trisomic Potentiator of a Disomic Modifier.

Li H, Edie S, Klinedinst D, Jeong JS, Blackshaw S, Maslen CL, Reeves RH.

Genetics. 2016 Jun;203(2):763-70. doi: 10.1534/genetics.116.188045. Epub 2016 Mar 30.


Increased Skin Tumor Incidence and Keratinocyte Hyper-Proliferation in a Mouse Model of Down Syndrome.

Yang A, Currier D, Poitras JL, Reeves RH.

PLoS One. 2016 Jan 11;11(1):e0146570. doi: 10.1371/journal.pone.0146570. eCollection 2016.


Chronic up-regulation of sonic hedgehog has little effect on postnatal craniofacial morphology of euploid and trisomic mice.

Singh N, Dutka T, Reeves RH, Richtsmeier JT.

Dev Dyn. 2016 Feb;245(2):114-22. doi: 10.1002/dvdy.24361. Epub 2015 Dec 6.


The pattern of congenital heart defects arising from reduced Tbx5 expression is altered in a Down syndrome mouse model.

Polk RC, Gergics P, Steimle JD, Li H, Moskowitz IP, Camper SA, Reeves RH.

BMC Dev Biol. 2015 Jul 25;15:30. doi: 10.1186/s12861-015-0080-y.


Genome-Wide Association Study of Down Syndrome-Associated Atrioventricular Septal Defects.

Ramachandran D, Zeng Z, Locke AE, Mulle JG, Bean LJ, Rosser TC, Dooley KJ, Cua CL, Capone GT, Reeves RH, Maslen CL, Cutler DJ, Feingold E, Sherman SL, Zwick ME.

G3 (Bethesda). 2015 Jul 20;5(10):1961-71. doi: 10.1534/g3.115.019943.


Assessing cognitive improvement in people with Down syndrome: important considerations for drug-efficacy trials.

Fernandez F, Reeves RH.

Handb Exp Pharmacol. 2015;228:335-80. doi: 10.1007/978-3-319-16522-6_12. Review.


Acute upregulation of hedgehog signaling in mice causes differential effects on cranial morphology.

Singh N, Dutka T, Devenney BM, Kawasaki K, Reeves RH, Richtsmeier JT.

Dis Model Mech. 2015 Mar;8(3):271-9. doi: 10.1242/dmm.017889. Epub 2014 Dec 24.


Chronic up-regulation of the SHH pathway normalizes some developmental effects of trisomy in Ts65Dn mice.

Dutka T, Hallberg D, Reeves RH.

Mech Dev. 2015 Feb;135:68-80. doi: 10.1016/j.mod.2014.11.004. Epub 2014 Dec 12.


Contribution of copy-number variation to Down syndrome-associated atrioventricular septal defects.

Ramachandran D, Mulle JG, Locke AE, Bean LJ, Rosser TC, Bose P, Dooley KJ, Cua CL, Capone GT, Reeves RH, Maslen CL, Cutler DJ, Sherman SL, Zwick ME.

Genet Med. 2015 Jul;17(7):554-60. doi: 10.1038/gim.2014.144. Epub 2014 Oct 23.


Allelic Interaction between CRELD1 and VEGFA in the Pathogenesis of Cardiac Atrioventricular Septal Defects.

Redig JK, Fouad GT, Babcock D, Reshey B, Feingold E, Reeves RH, Maslen CL.

AIMS Genet. 2014;1(1):1-19.


Overlapping trisomies for human chromosome 21 orthologs produce similar effects on skull and brain morphology of Dp(16)1Yey and Ts65Dn mice.

Starbuck JM, Dutka T, Ratliff TS, Reeves RH, Richtsmeier JT.

Am J Med Genet A. 2014 Aug;164A(8):1981-1990. doi: 10.1002/ajmg.a.36594. Epub 2014 May 1.


Size does not always matter: Ts65Dn Down syndrome mice show cerebellum-dependent motor learning deficits that cannot be rescued by postnatal SAG treatment.

Gutierrez-Castellanos N, Winkelman BH, Tolosa-Rodriguez L, Devenney B, Reeves RH, De Zeeuw CI.

J Neurosci. 2013 Sep 25;33(39):15408-13. doi: 10.1523/JNEUROSCI.2198-13.2013.


Hedgehog agonist therapy corrects structural and cognitive deficits in a Down syndrome mouse model.

Das I, Park JM, Shin JH, Jeon SK, Lorenzi H, Linden DJ, Worley PF, Reeves RH.

Sci Transl Med. 2013 Sep 4;5(201):201ra120. doi: 10.1126/scitranslmed.3005983.


Trisomy 21 and facial developmental instability.

Starbuck JM, Cole TM 3rd, Reeves RH, Richtsmeier JT.

Am J Phys Anthropol. 2013 May;151(1):49-57. doi: 10.1002/ajpa.22255. Epub 2013 Mar 15.


An excess of deleterious variants in VEGF-A pathway genes in Down-syndrome-associated atrioventricular septal defects.

Ackerman C, Locke AE, Feingold E, Reshey B, Espana K, Thusberg J, Mooney S, Bean LJ, Dooley KJ, Cua CL, Reeves RH, Sherman SL, Maslen CL.

Am J Hum Genet. 2012 Oct 5;91(4):646-59. doi: 10.1016/j.ajhg.2012.08.017.


A Sonic hedgehog (Shh) response deficit in trisomic cells may be a common denominator for multiple features of Down syndrome.

Currier DG, Polk RC, Reeves RH.

Prog Brain Res. 2012;197:223-36. doi: 10.1016/B978-0-444-54299-1.00011-X. Review.


Genetic modifiers predisposing to congenital heart disease in the sensitized Down syndrome population.

Li H, Cherry S, Klinedinst D, DeLeon V, Redig J, Reshey B, Chin MT, Sherman SL, Maslen CL, Reeves RH.

Circ Cardiovasc Genet. 2012 Jun;5(3):301-8. doi: 10.1161/CIRCGENETICS.111.960872. Epub 2012 Apr 20.


Trisomy 21 and early brain development.

Haydar TF, Reeves RH.

Trends Neurosci. 2012 Feb;35(2):81-91. doi: 10.1016/j.tins.2011.11.001. Epub 2011 Dec 9. Review.


Morphological integration of soft-tissue facial morphology in Down Syndrome and siblings.

Starbuck J, Reeves RH, Richtsmeier J.

Am J Phys Anthropol. 2011 Dec;146(4):560-8. doi: 10.1002/ajpa.21583. Epub 2011 Oct 14.


Down syndrome: national conference on patient registries, research databases, and biobanks.

Oster-Granite ML, Parisi MA, Abbeduto L, Berlin DS, Bodine C, Bynum D, Capone G, Collier E, Hall D, Kaeser L, Kaufmann P, Krischer J, Livingston M, McCabe LL, Pace J, Pfenninger K, Rasmussen SA, Reeves RH, Rubinstein Y, Sherman S, Terry SF, Whitten MS, Williams S, McCabe ER, Maddox YT.

Mol Genet Metab. 2011 Sep-Oct;104(1-2):13-22. doi: 10.1016/j.ymgme.2011.07.005. Epub 2011 Jul 13.


The use of mouse models to understand and improve cognitive deficits in Down syndrome.

Das I, Reeves RH.

Dis Model Mech. 2011 Sep;4(5):596-606. doi: 10.1242/dmm.007716. Epub 2011 Aug 4. Review.


Increased survival following tumorigenesis in Ts65Dn mice that model Down syndrome.

Yang A, Reeves RH.

Cancer Res. 2011 May 15;71(10):3573-81. doi: 10.1158/0008-5472.CAN-10-4489. Epub 2011 Apr 5.


Development and validation of the Arizona Cognitive Test Battery for Down syndrome.

Edgin JO, Mason GM, Allman MJ, Capone GT, Deleon I, Maslen C, Reeves RH, Sherman SL, Nadel L.

J Neurodev Disord. 2010 Sep 1;2(3):149-164.


Increased male reproductive success in Ts65Dn "Down syndrome" mice.

Moore CS, Hawkins C, Franca A, Lawler A, Devenney B, Das I, Reeves RH.

Mamm Genome. 2010 Dec;21(11-12):543-9. doi: 10.1007/s00335-010-9300-8. Epub 2010 Nov 26.


Down syndrome: from understanding the neurobiology to therapy.

Gardiner K, Herault Y, Lott IT, Antonarakis SE, Reeves RH, Dierssen M.

J Neurosci. 2010 Nov 10;30(45):14943-5. doi: 10.1523/JNEUROSCI.3728-10.2010. Review.


PCR prescreen for genotyping the Ts65Dn mouse model of Down syndrome.

Lorenzi H, Duvall N, Cherry SM, Reeves RH, Roper RJ.

Biotechniques. 2010 Jan;48(1):35-8. No abstract available.


Complex contributions of Ets2 to craniofacial and thymus phenotypes of trisomic "Down syndrome" mice.

Hill CA, Sussan TE, Reeves RH, Richtsmeier JT.

Am J Med Genet A. 2009 Oct;149A(10):2158-65. doi: 10.1002/ajmg.a.33012.


Developmental aspects of the upper airway: report from an NHLBI Workshop, March 5-6, 2009.

Marcus CL, Smith RJ, Mankarious LA, Arens R, Mitchell GS, Elluru RG, Forte V, Goudy S, Jabs EW, Kane AA, Katz E, Paydarfar D, Pereira K, Reeves RH, Richtsmeier JT, Ruiz RL, Thach BT, Tunkel DE, Whitsett JA, Wootton D, Blaisdell CJ.

Proc Am Thorac Soc. 2009 Sep 15;6(6):513-20. doi: 10.1513/pats.200905-024CB.


The "Down syndrome critical region" is sufficient in the mouse model to confer behavioral, neurophysiological, and synaptic phenotypes characteristic of Down syndrome.

Belichenko NP, Belichenko PV, Kleschevnikov AM, Salehi A, Reeves RH, Mobley WC.

J Neurosci. 2009 May 6;29(18):5938-48. doi: 10.1523/JNEUROSCI.1547-09.2009.


A neural crest deficit in Down syndrome mice is associated with deficient mitotic response to Sonic hedgehog.

Roper RJ, VanHorn JF, Cain CC, Reeves RH.

Mech Dev. 2009 Mar-Apr;126(3-4):212-9. doi: 10.1016/j.mod.2008.11.002. Epub 2008 Nov 21.


Introduction of large insert DNA into mammalian cells and embryos.

Reeves RH, Cabin DE, Lamb B.

Curr Protoc Hum Genet. 2001 Nov;Chapter 5:Unit 5.12. doi: 10.1002/0471142905.hg0512s30.


Trisomy represses Apc(Min)-mediated tumours in mouse models of Down's syndrome.

Sussan TE, Yang A, Li F, Ostrowski MC, Reeves RH.

Nature. 2008 Jan 3;451(7174):73-5. doi: 10.1038/nature06446.


A year of unprecedented progress in Down syndrome basic research.

Reeves RH, Garner CC.

Ment Retard Dev Disabil Res Rev. 2007;13(3):215-20. Review.


Gene expression variation in Down's syndrome mice allows prioritization of candidate genes.

Sultan M, Piccini I, Balzereit D, Herwig R, Saran NG, Lehrach H, Reeves RH, Yaspo ML.

Genome Biol. 2007;8(5):R91.


Microstructure of trabecular bone in a mouse model for Down syndrome.

Parsons T, Ryan TM, Reeves RH, Richtsmeier JT.

Anat Rec (Hoboken). 2007 Apr;290(4):414-21.


Differential effects of trisomy on brain shape and volume in related aneuploid mouse models.

Aldridge K, Reeves RH, Olson LE, Richtsmeier JT.

Am J Med Genet A. 2007 May 15;143A(10):1060-70.


Effects of aneuploidy on skull growth in a mouse model of Down syndrome.

Hill CA, Reeves RH, Richtsmeier JT.

J Anat. 2007 Apr;210(4):394-405.


Trisomy for the Down syndrome 'critical region' is necessary but not sufficient for brain phenotypes of trisomic mice.

Olson LE, Roper RJ, Sengstaken CL, Peterson EA, Aquino V, Galdzicki Z, Siarey R, Pletnikov M, Moran TH, Reeves RH.

Hum Mol Genet. 2007 Apr 1;16(7):774-82. Epub 2007 Mar 5.


Hippocampal hypocellularity in the Ts65Dn mouse originates early in development.

Lorenzi HA, Reeves RH.

Brain Res. 2006 Aug 9;1104(1):153-9. Epub 2006 Jul 7.


Down syndrome mouse models are looking up.

Reeves RH.

Trends Mol Med. 2006 Jun;12(6):237-40. Epub 2006 May 4.


Understanding the basis for Down syndrome phenotypes.

Roper RJ, Reeves RH.

PLoS Genet. 2006 Mar;2(3):e50.

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