Research Output 1979 2017

2017

Co-occurring medical conditions in adults with Down syndrome: A systematic review toward the development of health care guidelines

Capone, G. T., Chicoine, B., Bulova, P., Stephens, M., Hart, S., Crissman, B., Videlefsky, A., Myers, K., Roizen, N., Esbensen, A., Peterson, M., Santoro, S., Woodward, J., Martin, B. & Smith, D. 2017 (Accepted/In press) In : American Journal of Medical Genetics, Part A.

Research output: Research - peer-reviewArticle

Down Syndrome
Guidelines
Delivery of Health Care
National Library of Medicine (U.S.)
Knowledge Bases

Outcome measures for clinical trials in down syndrome

Esbensen, A. J., Hooper, S. R., Fidler, D., Hartley, S. L., Edgin, J., D'Ardhuy, X. L., Capone, G., Conners, F. A., Mervis, C. B., Abbeduto, L., Rafii, M., Krinsky-Mchale, S. J., Urv, T., Dykens, E., Esbenson, A., Hartlay, S., Keller, S. & Weir, S. May 1 2017 In : American Journal on Intellectual and Developmental Disabilities. 122, 3, p. 247-281 35 p.

Research output: Research - peer-reviewArticle

Down Syndrome
Outcome Assessment (Health Care)
Clinical Trials
Developmental Disabilities
National Institutes of Health (U.S.)

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 1 2017 In : American Journal on Intellectual and Developmental Disabilities. 122, 3, p. 215-234 20 p.

Research output: Research - peer-reviewArticle

Battery
Down Syndrome
Test-retest Reliability
Reproducibility of Results
Practice (Psychology)
2016

Erratum to: Trans effects of chromosome aneuploidies on DNA methylation patterns in human Down syndrome and mouse models [Genome Biol. 16, (2015) 263]

Mendioroz, M. , Do, C. , Jiang, X. , Liu, C. , Darbary, H. K. , Lang, C. F. , Lin, J. , Thomas, A. , Abu-Amero, S. , Stanier, P. , Temkin, A. , Yale, A. , Liu, M. M. , Li, Y. , Salas, M. , Kerkel, K. , Capone, G. , Silverman, W. , Yu, Y. E. , Moore, G. & 2 others Wegiel, J. & Tycko, B. Jun 9 2016 In : Genome Biology. 17, 1, 123

Research output: Research - peer-reviewComment/debate

Guanfacine
Attention Deficit Disorder with Hyperactivity
Down Syndrome
Problem Behavior
Checklist

Safety and efficacy of rivastigmine in children with Down syndrome: A double blind placebo controlled trial

Spiridigliozzi, G. A., Hart, S. J., Heller, J. H., Schneider, H. E., Baker, J. A., Weadon, C., Capone, G. T. & Kishnani, P. S. 2016 (Accepted/In press) In : American Journal of Medical Genetics, Part A.

Research output: Research - peer-reviewArticle

Rivastigmine
Down Syndrome
Placebos
Safety
Cognition
2015

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: Research - peer-reviewArticle

Down Syndrome
Atrioventricular Septal Defect
Population
Genes
Viverridae

Executive functions among youth with Down Syndrome and co-existing neurobehavioural disorders

Pritchard, A. E., Kalback, S., Mccurdy, M. & Capone, G. T. Dec 1 2015 In : Journal of Intellectual Disability Research. 59, 12, p. 1130-1141 12 p.

Research output: Research - peer-reviewArticle

Executive Function
Down Syndrome
Rating
Equipment and Supplies
Autism Spectrum Disorders

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: Research - peer-reviewArticle

Genome-Wide Association Study
Down Syndrome
Atrioventricular Septal Defect
Population
Chromosomes, Human, Pair 21

Trans effects of chromosome aneuploidies on DNA methylation patterns in human Down syndrome and mouse models

Mendioroz, M. , Do, C. , Jiang, X. , Liu, C. , Darbary, H. K. , Lang, C. F. , Lin, J. , Thomas, A. , Abu-Amero, S. , Stanier, P. , Temkin, A. , Yale, A. , Liu, M. M. , Li, Y. , Salas, M. , Kerkel, K. , Capone, G. , Silverman, W. , Yu, Y. E. , Moore, G. & 2 others Wegiel, J. & Tycko, B. Nov 25 2015 In : Genome Biology. 16, 1, 263

Research output: Research - peer-reviewArticle

Down syndrome
aneuploidy
DNA methylation
animal models
chromosomes
2013

Adolescents and young adults with down syndrome presenting to a medical clinic with depression: Co-morbid obstructive sleep apnea

Capone, G. T., Aidikoff, J. M., Taylor, K. & Rykiel, N. Sep 2013 In : American Journal of Medical Genetics, Part A. 161, 9, p. 2188-2196 9 p.

Research output: Research - peer-reviewArticle

Obstructive Sleep Apnea
Down Syndrome
Young Adult
Depression
Mood Disorders

Down syndrome: Genes, model systems, and progress towards pharmacotherapies and clinical trials for cognitive deficits

Busciglio, J., Capone, G., O'Byran, J. P. & Gardiner, K. J. Oct 2013 In : Cytogenetic and Genome Research. 141, 4, p. 260-271 12 p.

Research output: Research - peer-reviewArticle

Down Syndrome
Clinical Trials
Drug Therapy
Genes
Intellectual Disability
2012

A case-control comparison of lingual tonsillar size in children with and without down syndrome

Sedaghat, A. R., Flax-Goldenberg, R. B., Gayler, B. W., Capone, G. T. & Ishman, S. L. May 2012 In : Laryngoscope. 122, 5, p. 1165-1169 5 p.

Research output: Research - peer-reviewArticle

Down Syndrome
Tongue
Palatine Tonsil
Pediatrics
Hypertrophy

The role of hope in adaptation to uncertainty: The experience of caregivers of children with Down syndrome

Truitt, M., Biesecker, B., Capone, G., Bailey, T. & Erby, L. May 2012 In : Patient Education and Counseling. 87, 2, p. 233-238 6 p.

Research output: Research - peer-reviewArticle

Hope
Down Syndrome
Caregivers
Uncertainty
Aptitude
2011
Down Syndrome
Checklist
Young Adult
Depression
Psychopathology
Down Syndrome
Checklist
Cluster Analysis
Autism Spectrum Disorder
Autism Spectrum Disorders

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 others Terry, 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: Research - peer-reviewArticle

Down Syndrome
Registries
Databases
Research
Health

Pharmacotherapy for children with down syndrome

Capone, G. Jan 1 2011 Neurocognitive Rehabilitation of Down Syndrome: The Early Years. Cambridge University Press, p. 96-116 21 p.

Research output: ResearchChapter

Down Syndrome
Intellectual Disability
Drug Therapy
Therapeutics
Cognition
2010

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

Edgin, J. O., Mason, G. M., Allman, M. J., Capone, G. T., DeLeon, I., Maslen, C., Reeves, R. H., Sherman, S. L. & Nadel, L. 2010 In : Journal of Neurodevelopmental Disorders. 2, 3, p. 149-164 16 p.

Research output: Research - peer-reviewArticle

Down Syndrome
Aptitude
Benchmarking
Intellectual Disability
Cognition

The emergence of pharmacotherapies for cognitive function in Down syndrome

Capone, G. T. Dec 2010 In : American Journal of Medical Genetics, Part A. 152 A, 12, p. 3026-3027 2 p.

Research output: Research - peer-reviewArticle

Variation in folate pathway genes contributes to risk of congenital heart defects among individuals with Down syndrome

Locke, A. E., Dooley, K. J., Tinker, S. W., Cheong, S. Y., Feingold, E., Allen, E. G., Freeman, S. B., Torfs, C. P., Cua, C. L., Epstein, M. P., Wu, M. C., Lin, X., Capone, G., Sherman, S. L. & Bean, L. J. H. Sep 2010 In : Genetic Epidemiology. 34, 6, p. 613-623 11 p.

Research output: Research - peer-reviewArticle

Congenital Heart Defects
Down Syndrome
Folic Acid
Genes
Single Nucleotide Polymorphism
2009

Obstructive sleep apnea in adults with Down syndrome

Trois, M. S., Capone, G. T., Lutz, J. A., Melendres, M. C., Schwartz, A. R., Collop, N. A. & Marcus, C. L. Aug 15 2009 In : Journal of Clinical Sleep Medicine. 5, 4, p. 317-323 7 p.

Research output: Research - peer-reviewArticle

Obstructive Sleep Apnea
Down Syndrome
Apnea
Morbidity
Hypoventilation

Postnatal diagnosis of Down syndrome: Synthesis of the evidence on how best to deliver the news

Skotko, B. G., Capone, G. T. & Kishnani, P. S. 2009 In : Pediatrics. 124, 4

Research output: Research - peer-reviewArticle

Down Syndrome
Parents
Physicians
Organizations
Postnatal Care

Prenatal diagnosis of down syndrome: How best to deliver the news

Skotko, B. G., Kishnani, P. S. & Capone, G. T. Nov 2009 In : American Journal of Medical Genetics, Part A. 149, 11, p. 2361-2367 7 p.

Research output: Research - peer-reviewArticle

Down Syndrome
Prenatal Diagnosis
Parents
Physicians
Delivery of Health Care

The efficacy, safety, and tolerability of donepezil for the treatment of young adults with Down syndrome'

Kishnani, P. S., Sommer, B. R., Handen, B. L., Seltzer, B., Capone, G. T., Spiridigliozzi, G. A., Heller, J. H., Richardson, S. & McRae, T. Aug 2009 In : American Journal of Medical Genetics, Part A. 149, 8, p. 1641-1654 14 p.

Research output: Research - peer-reviewArticle

Down Syndrome
Young Adult
Safety
Therapeutics
donepezil
2008

Neuroanatomic correlates of autism and stereotypy in children with Down syndrome

Carter, J. C., Capone, G. T. & Kaufmann, W. E. Apr 2008 In : NeuroReport. 19, 6, p. 653-656 4 p.

Research output: Research - peer-reviewArticle

Autistic Disorder
Down Syndrome
Autism Spectrum Disorder
White Matter
Atlases
Risperidone
Autistic Disorder
Down Syndrome
Intellectual Disability
Therapeutics
2007

Autistic-spectrum disorders in Down syndrome: Further delineation and distinction from other behavioral abnormalities

Carter, J. C., Capone, G. T., Gray, R. M., Cox, C. S. & Kaufmann, W. E. Jan 5 2007 In : American Journal of Medical Genetics - Neuropsychiatric Genetics. 144, 1, p. 87-94 8 p.

Research output: Research - peer-reviewArticle

Autistic Disorder
Down Syndrome
Checklist
Mental Disorders
Anxiety

Increased amyloid β protein levels in children and adolescents with Down syndrome

Mehta, P. D., Capone, G., Jewell, A. & Freedland, R. L. Mar 15 2007 In : Journal of the Neurological Sciences. 254, 1-2, p. 22-27 6 p.

Research output: Research - peer-reviewArticle

Amyloid beta-Peptides
Down Syndrome
Neopterin
Apolipoproteins E
Alzheimer Disease

Visualization of uniparental inheritance, mendelian inconsistencies, deletions, and parent of origin effects in single nucleotide polymorphism trio data with SNPtrio

Ting, J. C., Roberson, E. D. O., Miller, N. D., Lysholm-Bernacchi, A., Stephan, D. A., Capone, G. T., Ruczinski, I., Thomas, G. H. & Pevsner, J. Dec 2007 In : Human Mutation. 28, 12, p. 1225-1235 11 p.

Research output: Research - peer-reviewArticle

Uniparental Disomy
Single Nucleotide Polymorphism
DNA
Down Syndrome
Beckwith-Wiedemann Syndrome
2006

Neurobehavioral disorders in children, adolescents, and young adults with Down syndrome

Capone, G., Goyal, P., Ares, W. & Lannigan, E. Aug 15 2006 In : American Journal of Medical Genetics, Part A. 142, 3, p. 158-172 15 p.

Research output: Research - peer-reviewArticle

Down Syndrome
Psychiatry
Young Adult
Intellectual Disability
Dual (Psychiatry) Diagnosis
2005

Down syndrome and comorbid autism-spectrum disorder: Characterization using the aberrant behavior checklist

Capone, G. T., Grados, M. A., Kaufmann, W. E., Bernad-Ripoll, S. & Jewell, A. May 1 2005 In : American Journal of Medical Genetics. 134 A, 4, p. 373-380 8 p.

Research output: Research - peer-reviewArticle

Down Syndrome
Checklist
Autism Spectrum Disorder
Autistic Disorder
Diagnostic and Statistical Manual of Mental Disorders

Precision and error of three-dimensional phenotypic measures acquired from 3dMD photogrammetric images

Aldridge, K., Boyadjiev, S. A., Capone, G. T., DeLeon, V. B. & Richtsmeier, J. T. Oct 15 2005 In : American Journal of Medical Genetics. 138 A, 3, p. 247-253 7 p.

Research output: Research - peer-reviewArticle

Phenotype
Technology
Photogrammetry
Genetic Association Studies
Lip
2004

Autism spectrum disorder in fragile X syndrome: Communication, social interaction, and specific behaviors

Kaufmann, W. E., Cortell, R., Kau, A. S. M., Bukelis, I., Tierney, E., Gray, R. M., Cox, C., Capone, G. T. & Stanard, P. Sep 1 2004 In : American Journal of Medical Genetics. 129 A, 3, p. 225-234 10 p.

Research output: Research - peer-reviewArticle

Fragile X Syndrome
Interpersonal Relations
Communication
Autism Spectrum Disorder
Autistic Disorder

Down Syndrome: Genetic Insights and Thoughts on Early Intervention

Capone, G. T. Jan 2004 In : Infants and Young Children. 17, 1, p. 45-58 14 p.

Research output: Research - peer-reviewArticle

Down Syndrome
Pharmacology
Therapeutics
developmental disorder
Aptitude

Linkage disequilibrium mapping in trisomic populations: Analytical approaches and an application to congenital heart defects in down syndrome

Kerstann, K. F., Feingold, E., Freeman, S. B., Bean, L. J. H., Pyatt, R., Tinker, S., Jewel, A. H., Capone, G. & Sherman, S. L. Nov 2004 In : Genetic Epidemiology. 27, 3, p. 240-251 12 p.

Research output: Research - peer-reviewArticle

Congenital Heart Defects
Chromosome Mapping
Linkage Disequilibrium
Down Syndrome
Population

New onset focal weakness in children with Down syndrome

Worley, G., Shbarou, R., Heffner, A. N., Belsito, K. M., Capone, G. T. & Kishnani, P. S. Jul 1 2004 In : American Journal of Medical Genetics. 128 A, 1, p. 15-18 4 p.

Research output: Research - peer-reviewArticle

Down Syndrome
Stroke
Spinal Cord Injuries
Differential Diagnosis
Population
2003

Specificity of cerebellar vermian abnormalities in autism: A quantitative magnetic resonance imaging study

Kaufmann, W. E., Cooper, K. L., Mostofsky, S. H., Capone, G. T., Kates, W. R., Newschaffer, C. J., Bukelis, I., Stump, M. H., Jann, A. E. & Lanham, D. C. Jul 1 2003 In : Journal of Child Neurology. 18, 7, p. 463-470 8 p.

Research output: Research - peer-reviewArticle

Autistic Disorder
Magnetic Resonance Imaging
Fragile X Syndrome
Down Syndrome
Diagnostic and Statistical Manual of Mental Disorders
2002

Cerebral growth in fragile X syndrome: Review and comparison with Down syndrome

Kates, W. R., Folley, B. S., Lanham, D. C., Capone, G. T. & Kaufmann, W. E. May 1 2002 In : Microscopy Research and Technique. 57, 3, p. 159-167 9 p.

Research output: Research - peer-reviewArticle

Down syndrome
mutation
brain
Fragile X Syndrome
Down Syndrome

Evidence for increased mitochondrial superoxide production in Down syndrome

Capone, G., Kim, P., Jovanovich, S., Payne, L., Freund, L., Welch, K., Miller, E. & Trush, M. May 3 2002 In : Life Sciences. 70, 24, p. 2885-2895 11 p.

Research output: Research - peer-reviewArticle

Down Syndrome
Superoxides
Mitochondria
Luminescence
Lipid Peroxidation

The effects of piracetam on cognitive performance in a mouse model of Down's syndrome

Moran, T. H., Capone, G. T., Knipp, S., Davisson, M. T., Reeves, R. H. & Gearhart, J. D. Nov 2002 In : Physiology and Behavior. 77, 2-3, p. 403-409 7 p.

Research output: Research - peer-reviewArticle

Piracetam
Down Syndrome
Therapeutics
Nootropic Agents
Chromosomes, Human, Pair 16
2001

Amygdala and hippocampal volumes in children with Down syndrome: A high-resolution MRI study

Pinter, J. D., Brown, W. E., Eliez, S., Schmitt, J. E., Capone, G. T. & Reiss, A. L. Apr 10 2001 In : Neurology. 56, 7, p. 972-974 3 p.

Research output: Research - peer-reviewArticle

Down Syndrome
Amygdala
Brain
Gene Dosage
Neurosciences
Down Syndrome
Molecular Biology
Chromosomes, Human, Pair 21

Neuroanatomy of Down's syndrome: A high-resolution MRI study

Pinter, J. D., Eliez, S., Schmitt, J. E., Capone, G. T. & Reiss, A. L. 2001 In : American Journal of Psychiatry. 158, 10, p. 1659-1665 7 p.

Research output: Research - peer-reviewArticle

Neuroanatomy
Down Syndrome
Magnetic Resonance Imaging
Brain
Intellectual Disability
1999

Behavior problems of children with Down syndrome and life events

Coe, D. A., Matson, J. L., Russell, D. W., Slifer, K. J., Capone, G. T., Baglio, C. & Stallings, S. 1999 In : Journal of Autism and Developmental Disorders. 29, 2, p. 149-156 8 p.

Research output: Research - peer-reviewArticle

Child Behavior
Down Syndrome
Problem Behavior
Mothers
Social Class
1998
Intelligence
Synaptic Transmission
Pharmaceutical Preparations
Cognitive Dysfunction
Cholinergic Agents

Regulation of the preprosomatostatin gene by cyclic-AMP in cerebrocortical neurons

Capone, G., Choi, C. & Vertifuille, J. Oct 1 1998 In : Molecular Brain Research. 60, 2, p. 247-258 12 p.

Research output: Research - peer-reviewArticle

Cyclic AMP
Neurons
Genes
Somatostatin
Messenger RNA
1997

Familial tandem duplication of bands q31.1 to q32.3 on chromosome 4 with mild phenotypic effect

Goodman, B. K., Capone, G. T., Hennessey, J. & Thomas, G. H. Dec 12 1997 In : American Journal of Medical Genetics. 73, 2, p. 119-124 6 p.

Research output: Research - peer-reviewArticle

Chromosomes, Human, Pair 4
Klinefelter Syndrome
Trisomy
Pedigree
Phenotype

Nutritional rickets in a child with Down syndrome

Cabana, M. D., Capone, G., Fritz, A. & Berkovitz, G. Apr 1997 In : Clinical Pediatrics. 36, 4, p. 235-237 3 p.

Research output: Research - peer-reviewArticle