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.
| 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 |
| Meert, Kathleen; Telford, Russell; Holubkov, Richard et al. (2018) Paediatric in-hospital cardiac arrest: Factors associated with survival and neurobehavioural outcome one year later. Resuscitation 124:96-105 |
| Wang, Guohua; Luo, Ximei; Wang, Jianan et al. (2018) MeDReaders: a database for transcription factors that bind to methylated DNA. Nucleic Acids Res 46:D146-D151 |
| Leung, Doris G; Wang, Xin; Barker, Peter B et al. (2018) Multivoxel proton magnetic resonance spectroscopy in facioscapulohumeral muscular dystrophy. Muscle Nerve 57:958-963 |
| Mahone, E Mark; Puts, Nicolaas A; Edden, Richard A E et al. (2018) GABA and glutamate in children with Tourette syndrome: A 1H MR spectroscopy study at 7T. Psychiatry Res Neuroimaging 273:46-53 |
| Oeltzschner, Georg; Chan, Kimberly L; Saleh, Muhammad G et al. (2018) Hadamard editing of glutathione and macromolecule-suppressed GABA. NMR Biomed 31: |
| Patros, Connor H G; L Sweeney, Kristie; Mahone, E Mark et al. (2018) Greater delay discounting among girls, but not boys, with ADHD correlates with cognitive control. Child Neuropsychol 24:1026-1046 |
| Pillai, Ajay S; McAuliffe, Danielle; Lakshmanan, Balaji M et al. (2018) Altered task-related modulation of long-range connectivity in children with autism. Autism Res 11:245-257 |
| Jacobson, Lisa A; Schneider, Heather; Mahone, E Mark (2018) Preschool Inhibitory Control Predicts ADHD Group Status and Inhibitory Weakness in School. Arch Clin Neuropsychol 33:1006-1014 |
Showing the most recent 10 out of 198 publications
