Roger Reeves

Research output

Research output per year 1982 1997 1998 1999 2000 2002 2023

• 168 Article
• 17 Review article
• 5 Short survey
• 4 Comment/debate
• 6 More
  • 2 Chapter
  • 2 Editorial
  • 1 Paper
  • 1 Letter

Research output per year

Research output per year

Search results

• 2023

  Dysregulated systemic metabolism in a Down syndrome mouse model

  Sarver, D. C., Xu, C., Velez, L. M., Aja, S., Jaffe, A. E., Seldin, M. M., Reeves, R. H. & Wong, G. W., Feb 2023, In: Molecular Metabolism. 68, 101666.

  Research output: Contribution to journal › Article › peer-review

  Open Access

  • Down Syndrome 100%
  • Aneuploidy 51%
  • High Fat Diet 32%
  • Dyslipidemias 31%
  • Genes 25%

• Hypermetabolism in mice carrying a near-complete human chromosome 21

  Sarver, D. C., Xu, C., Rodriguez, S., Aja, S., Jaffe, A. E., Gao, F. J., Delannoy, M., Periasamy, M., Kazuki, Y., Oshimura, M., Reeves, R. H. & Wong, G. W., 2023, In: eLife. 12, e86023.

  Research output: Contribution to journal › Article › peer-review

  Open Access

  • sarcolipin 100%
  • Chromosomes, Human, Pair 21 70%
  • Reticulum 69%
  • Thermogenesis 66%
  • Calcium-Transporting ATPases 65%

• Increased propensity for infantile spasms and altered neocortical excitation-inhibition balance in a mouse model of down syndrome carrying human chromosome 21

  Shao, L. R., Gao, F., Chinnasamy, V., Kazuki, Y., Oshimura, M., Reeves, R. H. & Stafstrom, C. E., Aug 2023, In: Neurobiology of Disease. 184, 106198.

  Research output: Contribution to journal › Article › peer-review

  Open Access

  • Infantile Spasms 100%
  • Chromosomes, Human, Pair 21 97%
  • Human Chromosomes 84%
  • Down Syndrome 77%
  • Inhibitory Postsynaptic Potentials 9%

• Overexpression screen of chromosome 21 genes reveals modulators of Sonic hedgehog signaling relevant to Down syndrome

  Moyer, A. J., Fernandez, F. X., Li, Y., Klinedinst, D. K., Florea, L. D., Kazuki, Y., Oshimura, M. & Reeves, R. H., 2023, In: DMM Disease Models and Mechanisms. 16, 4, dmm049712.

  Research output: Contribution to journal › Article › peer-review

  Open Access

  • RNA Sequencing 100%
  • Chromosomes, Human, Pair 21 78%
  • Hedgehog Proteins 76%
  • Down Syndrome 62%
  • Mutation 50%
• 2022

  A transchromosomic rat model with human chromosome 21 shows robust Down syndrome features

  Kazuki, Y., Gao, F. J., Yamakawa, M., Hirabayashi, M., Kazuki, K., Kajitani, N., Miyagawa-Tomita, S., Abe, S., Sanbo, M., Hara, H., Kuniishi, H., Ichisaka, S., Hata, Y., Koshima, M., Takayama, H., Takehara, S., Nakayama, Y., Hiratsuka, M., Iida, Y., Matsukura, S., & 8 othersNoda, N., Li, Y., Moyer, A. J., Cheng, B., Singh, N., Richtsmeier, J. T., Oshimura, M. & Reeves, R. H., Feb 3 2022, In: American journal of human genetics. 109, 2, p. 328-344 17 p.

  Research output: Contribution to journal › Article › peer-review

  Open Access

  • Chromosomes, Human, Pair 21 100%
  • Human Chromosomes 86%
  • Down Syndrome 79%
  • Quality of Life 9%
  • RNA-Seq 8%
• 2021

  All Creatures Great and Small: New Approaches for Understanding Down Syndrome Genetics

  Moyer, A. J., Gardiner, K. & Reeves, R. H., May 2021, In: Trends in Genetics. 37, 5, p. 444-459 16 p.

  Research output: Contribution to journal › Review article › peer-review

  Open Access

  • Down Syndrome 100%
  • Chromosomes, Human, Pair 21 20%
  • Human Chromosomes 18%
  • Diptera 17%
  • Zebrafish 16%
  1 Scopus citations

• Author Correction: Identifying genetic factors that contribute to the increased risk of congenital heart defects in infants with Down syndrome (Scientific Reports, (2020), 10, 1, (18051), 10.1038/s41598-020-74650-4)

  Trevino, C. E., Holleman, A. M., Corbitt, H., Maslen, C. L., Rosser, T. C., Cutler, D. J., Johnston, H. R., Rambo-Martin, B. L., Oberoi, J., Dooley, K. J., Capone, G. T., Reeves, R. H., Cordell, H. J., Keavney, B. D., Agopian, A. J., Goldmuntz, E., Gruber, P. J., O’Brien, J. E., Bittel, D. C., Wadhwa, L., & 6 othersCua, C. L., Moskowitz, I. P., Mulle, J. G., Epstein, M. P., Sherman, S. L. & Zwick, M. E., Dec 2021, In: Scientific reports. 11, 1, 15164.

  Research output: Contribution to journal › Comment/debate › peer-review

  Open Access

  • Congenital Heart Defects 100%
  • Down Syndrome 89%

• Capturing cognitive and behavioral variability among individuals with Down syndrome: a latent profile analysis

  The Down Syndrome Cognition Project, Dec 2021, In: Journal of Neurodevelopmental Disorders. 13, 1, 16.

  Research output: Contribution to journal › Article › peer-review

  Open Access

  • Down Syndrome 100%
  • Cognition 75%
  • Psychological Adaptation 73%
  • Autistic Disorder 47%
  • Behavioral Genetics 22%

• Forebrain Shh overexpression improves cognitive function and locomotor hyperactivity in an aneuploid mouse model of Down syndrome and its euploid littermates

  Gao, F. J., Klinedinst, D., Fernandez, F. X., Cheng, B., Savonenko, A., Devenney, B., Li, Y., Wu, D., Pomper, M. G. & Reeves, R. H., Dec 2021, In: Acta Neuropathologica Communications. 9, 1, 137.

  Research output: Contribution to journal › Article › peer-review

  Open Access

  • Hedgehog Proteins 100%
  • Aneuploidy 85%
  • Prosencephalon 84%
  • Down Syndrome 82%
  • Cognition 62%

• Time-dependent diffusion MRI probes cerebellar microstructural alterations in a mouse model of Down syndrome

  Wu, D., Zhang, Y., Cheng, B., Mori, S., Reeves, R. H. & Gao, F. J., 2021, In: Brain Communications. 3, 2, fcab062.

  Research output: Contribution to journal › Article › peer-review

  Open Access

  • Diffusion Magnetic Resonance Imaging 100%
  • Down Syndrome 88%
  • Cerebellar Diseases 28%
  • Purkinje Cells 24%
  • Cerebellum 19%
• 2020

  A non-mosaic transchromosomic mouse model of down syndrome carrying the long arm of human chromosome 21

  Kazuki, Y., Gao, F. J., Li, Y., Moyer, A. J., Devenney, B., Hiramatsu, K., Miyagawa-Tomita, S., Abe, S., Kazuki, K., Kajitani, N., Uno, N., Takehara, S., Takiguchi, M., Yamakawa, M., Hasegawa, A., Shimizu, R., Matsukura, S., Noda, N., Ogonuki, N., Inoue, K., & 14 othersMatoba, S., Ogura, A., Florea, L. D., Savonenko, A., Xiao, M., Wu, D., Batista, D. A. S., Yang, J., Qiu, Z., Singh, N., Richtsmeier, J. T., Takeuchi, T., Oshimura, M. & Reeves, R. H., Jun 2020, In: eLife. 9, p. 1-29 29 p., e56223.

  Research output: Contribution to journal › Article › peer-review

  Open Access

  • Chromosomes, Human, Pair 21 100%
  • Human Chromosomes 86%
  • Down Syndrome 79%
  • Artificial Chromosomes 51%
  • Plastic Property 44%
  6 Scopus citations

• Down syndrome

  Antonarakis, S. E., Skotko, B. G., Rafii, M. S., Strydom, A., Pape, S. E., Bianchi, D. W., Sherman, S. L. & Reeves, R. H., Jan 1 2020, In: Nature Reviews Disease Primers. 6, 1, 9.

  Research output: Contribution to journal › Article › peer-review

  • Down Syndrome 100%
  • Chromosomes, Human, Pair 21 45%
  • Intellectual Disability 16%
  • Alzheimer Disease 13%
  • Genes 10%
  36 Scopus citations

• Identifying genetic factors that contribute to the increased risk of congenital heart defects in infants with Down syndrome

  Trevino, C. E., Holleman, A. M., Corbitt, H., Maslen, C. L., Rosser, T. C., Cutler, D. J., Johnston, H. R., Rambo-Martin, B. L., Oberoi, J., Dooley, K. J., Capone, G. T., Reeves, R. H., Cordell, H. J., Keavney, B. D., Agopian, A. J., Goldmuntz, E., Gruber, P. J., O’Brien, J. E., Bittel, D. C., Wadhwa, L., & 5 othersCua, C. L., Mulle, J. G., Epstein, M. P., Sherman, S. L. & Zwick, M. E., Dec 1 2020, In: Scientific reports. 10, 1, 18051.

  Research output: Contribution to journal › Article › peer-review

  Open Access

  • Atrioventricular Septal Defect 100%
  • Congenital Heart Defects 79%
  • Down Syndrome 70%
  • Whole Exome Sequencing 8%
  • Whole Genome Sequencing 8%
  1 Scopus citations

• Opportunities, barriers, and recommendations in down syndrome research

  Hendrix, J. A., Amon, A., Abbeduto, L., Agiovlasitis, S., Alsaied, T., Anderson, H. A., Bain, L. J., Baumer, N., Bhattacharyya, A., Bogunovic, D., Botteron, K. N., Capone, G., Chandan, P., Chase, I., Chicoine, B., Cieuta-Walti, C., Deruisseau, L. R., Durand, S., Esbensen, A., Fortea, J., & 32 othersGiménez, S., Granholm, A. C., Mattie, L. J., Head, E., Hillerstrom, H., Jacola, L. M., Janicki, M. P., Jasien, J. M., Kamer, A. R., Kent, R. D., Khor, B., Lawrence, J. B., Lemonnier, C., Lewanda, A. F., Mobley, W., Moore, P. E., Nelson, L. P., Oreskovic, N. M., Osorio, R. S., Patterson, D., Rasmussen, S. A., Reeves, R. H., Roizen, N., Santoro, S., Sherman, S. L., Talib, N., Tapia, I. E., Walsh, K. M., Warren, S. F., White, A. N., Wong, G. W. & Yi, J. S., 2020, In: Translational Science of Rare Diseases. 5, 3-4, p. 99-129 31 p.

  Research output: Contribution to journal › Article › peer-review

  Open Access

  • Down Syndrome 100%
  • Quality of Life 10%
  • Life Expectancy 7%
  • Research Design 6%
  • Health 3%
• 2019

  Hydroxyurea improves spatial memory and cognitive plasticity in mice and has a mild effect on these parameters in a down syndrome mouse model

  Brose, R. D., Savonenko, A., Devenney, B., Smith, K. D. & Reeves, R. H., 2019, In: Frontiers in Aging Neuroscience. 11, MAY, 96.

  Research output: Contribution to journal › Article › peer-review

  Open Access

  • Hydroxyurea 100%
  • Spatial Memory 90%
  • Down Syndrome 85%
  • Psychology Retention 39%
  • Memory 34%
  3 Scopus citations

• Paving the Way for Therapy: The Second International Conference of the Trisomy 21 Research Society

  Reeves, R. H., Delabar, J., Potier, M. C., Bhattacharyya, A., Head, E., Lemere, C., Dekker, A. D., De Deyn, P., Caviedes, P., Dierssen, M. & Busciglio, J., Jan 1 2019, In: Molecular Syndromology. 9, 6, p. 279-286 8 p.

  Research output: Contribution to journal › Article › peer-review

  Open Access

  • Down Syndrome 100%
  • Therapeutics 15%
  • Intellectual Disability 15%
  • Comorbidity 12%
  • Alzheimer Disease 12%
  4 Scopus citations
• 2018

  Analysis of copy number variants on chromosome 21 in down syndrome-associated congenital heart defects

  Rambo-Martin, B. L., Mulle, J. G., Cutler, D. J., Bean, L. J. H., Rosser, T. C., Dooley, K. J., Cua, C., Capone, G., Maslen, C. L., Reeves, R. H., Sherman, S. L. & Zwick, M. E., Jan 1 2018, In: G3: Genes, Genomes, Genetics. 8, 1, p. 105-111 7 p.

  Research output: Contribution to journal › Article › peer-review

  Open Access

  • Atrioventricular Septal Defect 100%
  • Chromosomes, Human, Pair 21 88%
  • Congenital Heart Defects 79%
  • Down Syndrome 70%
  • African Americans 12%
  9 Scopus citations

• Associations between medical history, cognition, and behavior in youth with down syndrome: A report from the down syndrome cognition project

  Rosser, T. C., Edgin, J. O., Capone, G. T., Hamilton, D. R., Allen, E. G., Dooley, K. J., Anand, P., Strang, J. F., Armour, A. C., Frank-Crawford, M. A., Channell, M. M., Pierpont, E. I., Feingold, E., Maslen, C. L., Reeves, R. H. & Sherman, S. L., Nov 2018, In: American journal on intellectual and developmental disabilities. 123, 6, p. 514-528 15 p.

  Research output: Contribution to journal › Article › peer-review

  Open Access

  • Down Syndrome 100%
  • Cognition 75%
  • Congenital Heart Defects 56%
  • Social Class 45%
  • Medical Records 39%
  10 Scopus citations

• Disruption of stromal hedgehog signaling initiates RNF5-mediated proteasomal degradation of PTEN and accelerates pancreatic tumor growth

  Pitarresi, J. R., Liu, X., Avendano, A., Thies, K. A., Sizemore, G. M., Hammer, A. M., Hildreth, B. E., Wang, D. J., Steck, S. A., Donohue, S., Cuitiño, M. C., Kladney, R. D., Mace, T. A., Chang, J. J., Ennis, C. S., Li, H., Reeves, R. H., Blackshaw, S., Zhang, J., Yu, L., & 12 othersFernandez, S. A., Frankel, W. L., Bloomston, M., Rosol, T. J., Lesinski, G. B., Konieczny, S. F., Guttridge, D. C., Rustgi, A. K., Leone, G., Song, J. W., Wu, J. & Ostrowski, M. C., 2018, In: Life science alliance. 1, 5, e201800190.

  Research output: Contribution to journal › Article › peer-review

  Open Access

  • Oncogenic 100%
  • Tensins 92%
  • Erinaceidae 90%
  • phosphatase 78%
  • tumor 74%
  12 Scopus citations

• Hydroxyurea attenuates oxidative, metabolic, and excitotoxic stress in rat hippocampal neurons and improves spatial memory in a mouse model of Alzheimer's disease

  Brose, R. D., Lehrmann, E., Zhang, Y., Reeves, R. H., Smith, K. D. & Mattson, M. P., Dec 2018, In: Neurobiology of aging. 72, p. 121-133 13 p.

  Research output: Contribution to journal › Article › peer-review

  • Hydroxyurea 100%
  • Physiological Stress 98%
  • Spatial Memory 90%
  • Alzheimer Disease 64%
  • Oxidative Stress 60%
  6 Scopus citations

• Survey of human chromosome 21 gene expression effects on early development in Danio rerio

  Edie, S., Zaghloul, N. A., Leitch, C. C., Klinedinst, D. K., Lebron, J., Thole, J. F., McCallion, A. S., Katsanis, N. & Reeves, R. H., Jul 1 2018, In: G3: Genes, Genomes, Genetics. 8, 7, p. 2215-2223 9 p.

  Research output: Contribution to journal › Article › peer-review

  Open Access

  • Chromosomes, Human, Pair 21 100%
  • Human Chromosomes 86%
  • Zebrafish 77%
  • Down Syndrome 53%
  • Phenotype 46%
  8 Scopus citations
• 2017

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

  Xiang, J., Yang, S., Xin, N., Gaertig, M. A., Reeves, R. H., Li, S. & Li, X. J., Feb 14 2017, In: Proceedings of the National Academy of Sciences of the United States of America. 114, 7, p. E1224-E1233

  Research output: Contribution to journal › Article › peer-review

  • Dyrk kinase 100%
  • WD40 Repeats 83%
  • Huntingtin Protein 82%
  • Factor VII 72%
  • Down Syndrome 58%
  14 Scopus citations

• Increased sparsity of hippocampal CA1 neuronal ensembles in a mouse model of down syndrome assayed by Arc expression

  Smith-Hicks, C. L., Cai, P., Savonenko, A. V., Reeves, R. H. & Worley, P. F., Feb 3 2017, In: Frontiers in neural circuits. 11, 6.

  Research output: Contribution to journal › Article › peer-review

  Open Access

  • Down Syndrome 100%
  • Pyramidal Cells 22%
  • Messenger RNA 18%
  • Learning 15%
  • Exploratory Behavior 13%
  3 Scopus citations

• NPTX2 and cognitive dysfunction in Alzheimer’s Disease

  Xiao, M. F., Xu, D., Craig, M. T., Pelkey, K. A., Chien, C. C., Shi, Y., Zhang, J., Resnick, S., Pletnikova, O., Salmon, D., Brewer, J., Edland, S., Wegiel, J., Tycko, B., Savonenko, A., Reeves, R. H., Troncoso, J. C., McBain, C. J., Galasko, D. & Worley, P. F., Apr 25 2017, In: eLife. 6, p. 1-27 27 p., e23798.

  Research output: Contribution to journal › Comment/debate › peer-review

  Open Access
  61 Scopus citations

• The Arizona cognitive test battery for down syndrome: Test-retest reliability & practice effects

  Edgin, J. O., Anand, P., Rosser, T., Pierpont, E. I., Figueroa, C., Hamilton, D., Huddleston, L., Mason, G., Spaǹo, G., Toole, L., Nguyen-Driver, M., Capone, G., Abbeduto, L., Maslen, C., Reeves, R. H. & Sherman, S., May 2017, In: American journal on intellectual and developmental disabilities. 122, 3, p. 215-234 20 p.

  Research output: Contribution to journal › Article › peer-review

  • Test-retest Reliability 100%
  • Down Syndrome 87%
  • test battery 78%
  • Battery 73%
  • Psychological Practice 65%
  16 Scopus citations

• The Influence of trisomy 21 on facial form and variability

  Starbuck, J. M., Cole, T. M., Reeves, R. H. & Richtsmeier, J. T., Nov 2017, In: American Journal of Medical Genetics, Part A. 173, 11, p. 2861-2872 12 p.

  Research output: Contribution to journal › Article › peer-review

  Open Access

  • Down Syndrome 100%
  • Siblings 29%
  • Chromosomes, Human, Pair 21 8%
  • Aneuploidy 6%
  • Child 5%
  9 Scopus citations
• 2016

  Changing Paradigms in Down Syndrome: The First International Conference of the Trisomy 21 Research Society

  Delabar, J. M., Allinquant, B., Bianchi, D., Blumenthal, T., Dekker, A., Edgin, J., O'Bryan, J., Dierssen, M., Potier, M. C., Wiseman, F., Guedj, F., Créau, N., Reeves, R., Gardiner, K. & Busciglio, J., Oct 1 2016, In: Molecular Syndromology. 7, 5, p. 251-261 11 p.

  Research output: Contribution to journal › Article › peer-review

  Open Access

  • Down Syndrome 100%
  • Intellectual Disability 18%
  • Alzheimer Disease 14%
  • Chromosomes, Human, Pair 21 12%
  • Paris 11%
  7 Scopus citations

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

  Singh, N., Dutka, T., Reeves, R. H. & Richtsmeier, J. T., Feb 1 2016, In: Developmental Dynamics. 245, 2, p. 114-122 9 p.

  Research output: Contribution to journal › Article › peer-review

  Open Access

  • Hedgehog Proteins 100%
  • Up-Regulation 57%
  • Down Syndrome 32%
  • Craniofacial Abnormalities 11%
  • Haploinsufficiency 10%
  6 Scopus citations

• Cilia gene mutations cause atrioventricular septal defects by multiple mechanisms

  Burnicka-Turek, O., Steimle, J. D., Huang, W., Felker, L., Kamp, A., Kweon, J., Peterson, M., Reeves, R. H., Maslen, C. L., Gruber, P. J., Yang, X. H., Shendure, J. & Moskowitz, I. P., 2016, In: Human molecular genetics. 25, 14, p. 3011-3028 18 p.

  Research output: Contribution to journal › Article › peer-review

  Open Access

  • Atrioventricular Septal Defect 100%
  • Cilia 79%
  • Mutation 38%
  • Genes 27%
  • Hedgehogs 24%
  23 Scopus citations

• Editorial: Intellectual disabilities in down syndrome from birth and throughout life: Assessment and treatment

  Potier, M. C. & Reeves, R. H., Jun 14 2016, In: Frontiers in Behavioral Neuroscience. 10, JUN, 120.

  Research output: Contribution to journal › Editorial › peer-review

  Open Access
  4 Scopus citations

• Increased skin tumor incidence and keratinocyte hyper-proliferation in a mouse model of down syndrome

  Yang, A., Currier, D., Poitras, J. L. & Reeves, R. H., Jan 11 2016, In: PloS one. 11, 1, e0146570.

  Research output: Contribution to journal › Article › peer-review

  Open Access

  • Down syndrome 100%
  • skin neoplasms 96%
  • trisomics 87%
  • keratinocytes 80%
  • Down Syndrome 71%
  5 Scopus citations

• 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, J. S., Blackshaw, S., Maslen, C. L. & Reeves, R. H., Jun 2016, In: Genetics. 203, 2, p. 763-770 8 p.

  Research output: Contribution to journal › Article › peer-review

  Open Access

  • Penetrance 100%
  • Down Syndrome 90%
  • Heart Diseases 70%
  • Heart 44%
  • Genes 34%
  16 Scopus citations
• 2015

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

  Singh, N., Dutka, T., Devenney, B. M., Kawasaki, K., Reeves, R. H. & Richtsmeier, J. T., Mar 1 2015, In: DMM Disease Models and Mechanisms. 8, 3, p. 271-279 9 p.

  Research output: Contribution to journal › Article › peer-review

  Open Access

  • Hedgehogs 100%
  • Hedgehog Proteins 72%
  • Down Syndrome 59%
  • Skeleton 58%
  • Up-Regulation 54%
  8 Scopus citations

• Assessing cognitive improvement in people with down syndrome: Important considerations for drug-efficacy trials

  Fernandez, F. & Reeves, R. H., 2015, In: Handbook of Experimental Pharmacology. 228, p. 335-380 46 p.

  Research output: Contribution to journal › Article › peer-review

  • Down Syndrome 100%
  • Drug 50%
  • Pharmaceutical Preparations 39%
  • Population Biological Variation 39%
  • Cognition 25%
  6 Scopus citations

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

  Dutka, T., Hallberg, D. & Reeves, R. H., Feb 1 2015, In: Mechanisms of Development. 135, p. 68-80 13 p.

  Research output: Contribution to journal › Article › peer-review

  Open Access

  • Hedgehog Proteins 100%
  • Down Syndrome 82%
  • Up-Regulation 57%
  • Phenotype 39%
  • Chromosomes, Human, Pair 21 17%
  11 Scopus citations

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

  Ramachandran, D., Mulle, J. G., Locke, A. E., Bean, L. J. H., Rosser, T. C., Bose, P., Dooley, K. J., Cua, C. L., Capone, G. T., Reeves, R. H., Maslen, C. L., Cutler, D. J., Sherman, S. L. & Zwick, M. E., Jul 2 2015, In: Genetics in Medicine. 17, 7, p. 554-560 7 p.

  Research output: Contribution to journal › Article › peer-review

  Open Access

  • Atrioventricular Septal Defect 100%
  • Down Syndrome 70%
  • Complete atrioventricular septal defect 21%
  • Viverridae 19%
  • Heart 17%
  18 Scopus citations

• Down syndrome and Alzheimer's disease: Common pathways, common goals

  Hartley, D., Blumenthal, T., Carrillo, M., DiPaolo, G., Esralew, L., Gardiner, K., Granholm, A. C., Iqbal, K., Krams, M., Lemere, C., Lott, I., Mobley, W., Ness, S., Nixon, R., Potter, H., Reeves, R., Sabbagh, M., Silverman, W., Tycko, B., Whitten, M., & 1 othersWisniewski, T., Jun 1 2015, In: Alzheimer's and Dementia. 11, 6, p. 700-709 10 p.

  Research output: Contribution to journal › Article › peer-review

  Open Access

  • Down Syndrome 100%
  • dementia 82%
  • Alzheimer Disease 63%
  • Education 20%
  • Psychological Identification 20%
  112 Scopus citations

• Genome-wide association study of down syndrome-associated atrioventricular septal defects

  Ramachandran, D., Zeng, Z., Locke, A. E., Mulle, J. G., Bean, L. J. H., Rosser, T. C., Dooley, K. J., Cua, C. L., Capone, G. T., Reeves, R. H., Maslen, C. L., Cutler, D. J., Feingold, E., Sherman, S. L. & Zwick, M. E., 2015, In: G3: Genes, Genomes, Genetics. 5, 10, p. 1961-1971 11 p.

  Research output: Contribution to journal › Article › peer-review

  Open Access

  • Atrioventricular Septal Defect 100%
  • Genome-Wide Association Study 71%
  • Down Syndrome 70%
  • Complete atrioventricular septal defect 26%
  • Chromosomes, Human, Pair 21 22%
  19 Scopus citations

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

  Polk, R. C., Gergics, P., Steimle, J. D., Li, H., Moskowitz, I. P., Camper, S. A. & Reeves, R. H., Jul 25 2015, In: BMC Developmental Biology. 15, 1, p. 4-12 9 p., 30.

  Research output: Contribution to journal › Article › peer-review

  Open Access

  • Organogenesis 100%
  • Congenital Heart Defects 95%
  • Down Syndrome 85%
  • Heart 24%
  • Binding Sites 17%
  10 Scopus citations
• 2014

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

  Starbuck, J. M., Dutka, T., Ratliff, T. S., Reeves, R. H. & Richtsmeier, J. T., Aug 2014, In: American Journal of Medical Genetics, Part A. 164, 8, p. 1981-1990 10 p.

  Research output: Contribution to journal › Article › peer-review

  • Chromosomes, Human, Pair 21 100%
  • Human Chromosomes 86%
  • Skull 75%
  • Down Syndrome 53%
  • Brain 37%
  23 Scopus citations
• 2013

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

  Das, I., Park, J. M., Shin, J. H., Jeon, S. K., Lorenzi, H., Linden, D. J., Worley, P. F. & Reeves, R. H., Sep 4 2013, In: Science translational medicine. 5, 201, 201ra120.

  Research output: Contribution to journal › Article › peer-review

  Open Access

  • Hedgehogs 100%
  • Down Syndrome 79%
  • N-Methyl-D-Aspartate Receptors 30%
  • Memory 22%
  • Hedgehog Proteins 19%
  82 Scopus citations

• Reeler Locus

  Reeves, R. H., Feb 27 2013, Brenner's Encyclopedia of Genetics: Second Edition. Elsevier Inc., p. 116 1 p.

  Research output: Chapter in Book/Report/Conference proceeding › Chapter

• 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, B. H. J., Tolosa-Rodriguez, L., Devenney, B., Reeves, R. H. & De Zeeuw, C. I., 2013, In: Journal of Neuroscience. 33, 39, p. 15408-15413 6 p.

  Research output: Contribution to journal › Article › peer-review

  Open Access

  • Down Syndrome 100%
  • Hedgehog Proteins 91%
  • Cerebellum 88%
  • Learning 70%
  • Cerebellar Hypoplasia 36%
  19 Scopus citations

• Trisomy 21 and facial developmental instability

  Starbuck, J. M., Cole, T. M., Reeves, R. H. & Richtsmeier, J. T., May 2013, In: American journal of physical anthropology. 151, 1, p. 49-57 9 p.

  Research output: Contribution to journal › Article › peer-review

  Open Access

  • Down Syndrome 100%
  • asymmetry 35%
  • Morphogenesis 16%
  • cause 13%
  • Facial Asymmetry 11%
  21 Scopus citations
• 2012

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

  Ackerman, C., Locke, A. E., Feingold, E., Reshey, B., Espana, K., Thusberg, J., Mooney, S., Bean, L. J. H., Dooley, K. J., Cua, C. L., Reeves, R. H., Sherman, S. L. & Maslen, C. L., Oct 5 2012, In: American journal of human genetics. 91, 4, p. 646-659 14 p.

  Research output: Contribution to journal › Article › peer-review

  Open Access

  • Atrioventricular Septal Defect 100%
  • Down Syndrome 70%
  • Vascular Endothelial Growth Factor A 58%
  • Genes 27%
  • Congenital Heart Defects 26%
  63 Scopus citations

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

  Currier, D. G., Polk, R. C. & Reeves, R. H., 2012, Progress in Brain Research. Elsevier B.V., p. 223-236 14 p. (Progress in Brain Research; vol. 197).

  Research output: Chapter in Book/Report/Conference proceeding › Chapter

  • Hedgehog Proteins 100%
  • Down Syndrome 82%
  • Growth Differentiation Factors 23%
  • Hedgehogs 20%
  • Gastrulation 20%
  22 Scopus citations

• 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, M. T., Sherman, S. L., Maslen, C. L. & Reeves, R. H., Jun 2012, In: Circulation: Cardiovascular Genetics. 5, 3, p. 301-308 8 p.

  Research output: Contribution to journal › Article › peer-review

  Open Access

  • Down Syndrome 100%
  • Heart Diseases 77%
  • Population 37%
  • Complete atrioventricular septal defect 21%
  • Atrioventricular Septal Defect 20%
  40 Scopus citations

• Trisomy 21 and early brain development

  Haydar, T. F. & Reeves, R. H., Feb 2012, In: Trends in neurosciences. 35, 2, p. 81-91 11 p.

  Research output: Contribution to journal › Review article › peer-review

  • Down Syndrome 100%
  • Brain 47%
  • Chromosomes, Human, Pair 21 41%
  • Catalogs 39%
  • Gene Dosage 38%
  119 Scopus citations
• 2011

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

  Oster-Granite, M. L., Parisi, M. A., Abbeduto, L., Berlin, D. S., Bodine, C., Bynum, D., Capone, G., Collier, E., Hall, D., Kaeser, L., Kaufmann, P., Krischer, J., Livingston, M., McCabe, L. L., Pace, J., Pfenninger, K., Rasmussen, S. A., Reeves, R. H., Rubinstein, Y., Sherman, S., & 5 othersTerry, S. F., SieWhitten, M., Williams, S., McCabe, E. R. B. & Maddox, Y. T., Sep 2011, In: Molecular genetics and metabolism. 104, 1-2, p. 13-22 10 p.

  Research output: Contribution to journal › Article › peer-review

  Open Access

  • Kennedy Cyclization 100%
  • Down Syndrome 60%
  • Congresses 57%
  • Registries 46%
  • Industry 42%
  28 Scopus citations

• Increased survival following tumorigenesis in Ts65Dn mice that model down syndrome

  Yang, A. & Reeves, R. H., May 15 2011, In: Cancer Research. 71, 10, p. 3573-3581 9 p.

  Research output: Contribution to journal › Article › peer-review

  Open Access

  • Down Syndrome 100%
  • Carcinogenesis 73%
  • Neoplasms 31%
  • Neurofibromatosis 1 Genes 18%
  • Incidence 17%
  26 Scopus citations