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.

National Institute of Health (NIH)
Eunice Kennedy Shriver National Institute of Child Health & Human Development (NICHD)
Specialized Center--Cooperative Agreements (U54)
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Special Emphasis Panel (ZHD1-DSR-H (ID))
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Hugo W. Moser Research Institute Kennedy Krieger
United States
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Wu, Dan; Lei, Jun; Jia, Bei et al. (2018) In vivo assessment of the placental anatomy and perfusion in a mouse model of intrauterine inflammation. J Magn Reson Imaging 47:1260-1267
Chang, Andrew D; Vaidya, Punit V; Retzbach, Edward P et al. (2018) Narp Mediates Antidepressant-Like Effects of Electroconvulsive Seizures. Neuropsychopharmacology 43:1088-1098
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