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 #
3U54HD079123-05S1
Application #
9924008
Study Section
Special Emphasis Panel (ZHD1)
Program Officer
Parisi, Melissa
Project Start
Project End
2021-05-31
Budget Start
2018-06-01
Budget End
2019-05-31
Support Year
5
Fiscal Year
2019
Total Cost
Indirect Cost

  Institution

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

  Publications

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
Redmond, Kristin J; Hildreth, Meghan; Sair, Haris I et al. (2018) Association of Neuronal Injury in the Genu and Body of Corpus Callosum After Cranial Irradiation in Children With Impaired Cognitive Control: A Prospective Study. Int J Radiat Oncol Biol Phys 101:1234-1242
Singer, Harvey S; Rajendran, Shreenath; Waranch, H Richard et al. (2018) Home-Based, Therapist-Assisted, Therapy for Young Children With Primary Complex Motor Stereotypies. Pediatr Neurol 85:51-57
Babulal, Ganesh M; Quiroz, Yakeel T; Albensi, Benedict C et al. (2018) Perspectives on ethnic and racial disparities in Alzheimer's disease and related dementias: Update and areas of immediate need. Alzheimers Dement :
Gordon-Lipkin, Eliza; Cohen, Julie S; Srivastava, Siddharth et al. (2018) ST3GAL5-Related Disorders: A Deficiency in Ganglioside Metabolism and a Genetic Cause of Intellectual Disability and Choreoathetosis. J Child Neurol 33:825-831
Sweeney, Kristie L; Ryan, Matthew; Schneider, Heather et al. (2018) Developmental Trajectory of Motor Deficits in Preschool Children with ADHD. Dev Neuropsychol 43:419-429
Jacobson, Lisa A; Crocetti, Deana; Dirlikov, Benjamin et al. (2018) Anomalous Brain Development Is Evident in Preschoolers With Attention-Deficit/Hyperactivity Disorder. J Int Neuropsychol Soc 24:531-539

Showing the most recent 10 out of 198 publications