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

Stephens, Jaclyn A; Denckla, Martha B; McCambridge, Teri et al. (2018) Preliminary use of the PANESS for detecting subtle motor signs in adolescents with sport-related concussion: a brief report. Am J Phys Med Rehabil :
Mikkelsen, Mark; Loo, Rachelle S; Puts, Nicolaas A J et al. (2018) Designing GABA-edited magnetic resonance spectroscopy studies: Considerations of scan duration, signal-to-noise ratio and sample size. J Neurosci Methods 303:86-94
Slomine, Beth S; Silverstein, Faye S; Christensen, James R et al. (2018) Neurobehavioural outcomes in children after In-Hospital cardiac arrest. Resuscitation 124:80-89
Rosch, Keri S; Crocetti, Deana; Hirabayashi, Kathryn et al. (2018) Reduced subcortical volumes among preschool-age girls and boys with ADHD. Psychiatry Res Neuroimaging 271:67-74
Pilarowski, Genay O; Vernon, Hilary J; Applegate, Carolyn D et al. (2018) Missense variants in the chromatin remodeler CHD1 are associated with neurodevelopmental disability. J Med Genet 55:561-566
Kim, Sangjune; Yun, Seung Pil; Lee, Saebom et al. (2018) GBA1 deficiency negatively affects physiological ?-synuclein tetramers and related multimers. Proc Natl Acad Sci U S A 115:798-803
Statton, Matthew A; Vazquez, Alejandro; Morton, Susanne M et al. (2018) Making Sense of Cerebellar Contributions to Perceptual and Motor Adaptation. Cerebellum 17:111-121
Jacobson, Lisa A; Geist, Megan; Mahone, E Mark (2018) Sluggish Cognitive Tempo, Processing Speed, and Internalizing Symptoms: the Moderating Effect of Age. J Abnorm Child Psychol 46:127-135
Newcomb, Eli T; Hagopian, Louis P (2018) Treatment of severe problem behaviour in children with autism spectrum disorder and intellectual disabilities. Int Rev Psychiatry 30:96-109
Wang, Shuyan; Shi, Xiaohai; Wei, Shuang et al. (2018) Krüppel-like factor 4 (KLF4) induces mitochondrial fusion and increases spare respiratory capacity of human glioblastoma cells. J Biol Chem 293:6544-6555

Showing the most recent 10 out of 198 publications