Abstract

The objective of the Genetics Core is to support research to better understand the role of genetic factors associated with normal and abnormal physical, cognitive and/or behavioral development. Supported research focuses on etiology, natural history and prognosis of a variety of conditions associated with developmental delay, neuropsychiatric disorders, and behavioral and physical features of developmental disabilities. These include phenotypic variations associated with genomic copy number changes, enzymatic deficiencies and new therapies, gene discovery, mutation analysis, genotype-phenotype correlation, and the role of copy number changes in morbidity. The services provided by the Genetics Core include: (1) cell line establishment and tissue culture, (2) cytogenetic analysis, namely karyotype and fluorescence in situ hybridization, (3) single nucleotide polymorphism microarray, and (4) identification of regions with genomic homozygosity and parent of origin for genomic abnormalities. The Core also serves as an interface for IDDRC-supported projects with the resources of the other Genetics Core facilities established within the Johns Hopkins Medical Institutions.

  Funding Agency

Agency
National Institute of Health (NIH)
Institute
Eunice Kennedy Shriver National Institute of Child Health & Human Development (NICHD)
Type
Specialized Center--Cooperative Agreements (U54)
Project #
1U54HD079123-01A1
Application #
8846264
Study Section
Special Emphasis Panel (ZHD1-DSR-H (ID))
Project Start
Project End
Budget Start
2014-09-23
Budget End
2015-06-30
Support Year
1
Fiscal Year
2014
Total Cost
$144,049
Indirect Cost
$54,910

  Institution

Name
Hugo W. Moser Research Institute Kennedy Krieger
Department
Type
DUNS #
155342439
City
Baltimore
State
MD
Country
United States
Zip Code
21205

  Publications

Jacobson, Lisa A; Mahone, E Mark; Yeates, Keith O et al. (2018) Processing speed in children treated for brain tumors: effects of radiation therapy and age. Child Neuropsychol :1-15
Stephens, Jaclyn A; Salorio, Cynthia F; Barber, Anita D et al. (2018) Preliminary findings of altered functional connectivity of the default mode network linked to functional outcomes one year after pediatric traumatic brain injury. Dev Neurorehabil 21:423-430
Schupf, Nicole; Lee, Joseph H; Pang, Deborah et al. (2018) Epidemiology of estrogen and dementia in women with Down syndrome. Free Radic Biol Med 114:62-68
Doman, Sydney E; Girish, Akanksha; Nemeth, Christina L et al. (2018) Early Detection of Hypothermic Neuroprotection Using T2-Weighted Magnetic Resonance Imaging in a Mouse Model of Hypoxic Ischemic Encephalopathy. Front Neurol 9:304
Robert BraĊĦi?, James; Mari, Zoltan; Lerner, Alicja et al. (2018) Remission of Gilles de la Tourette Syndrome after Heat-Induced Dehydration. Int J Phys Med Rehabil 6:
Rambo-Martin, Benjamin L; Mulle, Jennifer G; Cutler, David J et al. (2018) Analysis of Copy Number Variants on Chromosome 21 in Down Syndrome-Associated Congenital Heart Defects. G3 (Bethesda) 8:105-111
Uzoma, Ijeoma; Hu, Jianfei; Cox, Eric et al. (2018) Global Identification of Small Ubiquitin-related Modifier (SUMO) Substrates Reveals Crosstalk between SUMOylation and Phosphorylation Promotes Cell Migration. Mol Cell Proteomics 17:871-888
Leech, Kristan A; Roemmich, Ryan T; Bastian, Amy J (2018) Creating flexible motor memories in human walking. Sci Rep 8:94
Oeltzschner, Georg; Snoussi, Karim; Puts, Nicolaas A et al. (2018) Effects of eddy currents on selective spectral editing experiments at 3T. J Magn Reson Imaging 47:673-681
Sali, Anthony W; Anderson, Brian A; Yantis, Steven et al. (2018) Reduced Value-Driven Attentional Capture Among Children with ADHD Compared to Typically Developing Controls. J Abnorm Child Psychol 46:1187-1200

Showing the most recent 10 out of 198 publications