The High-throughput Genomic and RNA Analysis (HGRA) Core for the Baylor College of Medicine (BCM) Intellectual and Developmental Disabilities Research Center (IDDRC) utilizes the resources and knowledge base of the Microarray Core Facility (MCF) at BCM. This newly named core represents a combination of two previously funded IDDRC cores (Core B2: Genomic Array Core and Core C4: Expression Array Core). As a new activity, the core will also offer next generation sequencing technology to users. Originally the Genomic Array Core was set up to offer array comparative genomic hybridization (aCGH) to users of the BCM-IDDRC. Since that time the BCM Medical Genetics Laboratories (a CLIA certified lab environment) developed a targeted aCGH platform which is called Chromosomal Microarray Analysis (CMA). In 2006, Dr. Lisa D. White became Technical Director of the CLIA CMA lab and many of the BCM-IDDRC researchers began using that laboratory for their aCGH. The switch to the CLIA lab has been stunningly successful and of immense benefit to the IDD community as illustrated by the large numbers of publications listed below. A very large number of new genetic etiologies for IDD have resulted from these efforts. The HGRA will continue to offer aCGH as a research activity for members of the BCM-IDDRC as an adjunct to the clinical efforts. The HGRA core will combine cutting edge technologies to provide state-of-the-art quality microarray-based and next generation sequencing-based services and analyses for both transcriptional and genomic profiling. The MCF was established in 1999 with funds from BCM, the National Cancer Institute and the National Eye Institute to develop microarray resources for BCM researchers. With the restructuring of the HGRA core, our purpose expands to providing assistance to BCM-IDDRC researchers in utilizing microarray technology, next generation sequencing technology, good experimental design, and data management and data analysis resources. We will begin offering next generation sequencing technology (Illumina Genome Analyzer II) to BCM-IDDRC members in March 2009.

National Institute of Health (NIH)
Eunice Kennedy Shriver National Institute of Child Health & Human Development (NICHD)
Center Core Grants (P30)
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Special Emphasis Panel (ZHD1-MRG-C (16))
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Baylor College of Medicine
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Kho, Jordan; Tian, Xiaoyu; Wong, Wing-Tak et al. (2018) Argininosuccinate Lyase Deficiency Causes an Endothelial-Dependent Form of Hypertension. Am J Hum Genet 103:276-287
Eblimit, Aiden; Zaneveld, Smriti Agrawal; Liu, Wei et al. (2018) NMNAT1 E257K variant, associated with Leber Congenital Amaurosis (LCA9), causes a mild retinal degeneration phenotype. Exp Eye Res 173:32-43
Lanzieri, Tatiana M; Chung, Winnie; Leung, Jessica et al. (2018) Hearing Trajectory in Children with Congenital Cytomegalovirus Infection. Otolaryngol Head Neck Surg 158:736-744
Madan, Simran; Kron, Bettina; Jin, Zixue et al. (2018) Arginase overexpression in neurons and its effect on traumatic brain injury. Mol Genet Metab 125:112-117
De Maio, Antonia; Yalamanchili, Hari Krishna; Adamski, Carolyn J et al. (2018) RBM17 Interacts with U2SURP and CHERP to Regulate Expression and Splicing of RNA-Processing Proteins. Cell Rep 25:726-736.e7
Reeber, Stacey L; Arancillo, Marife; Sillitoe, Roy V (2018) Bergmann Glia are Patterned into Topographic Molecular Zones in the Developing and Adult Mouse Cerebellum. Cerebellum 17:392-403
Gillentine, Madelyn A; Lupo, Philip J; Stankiewicz, Pawel et al. (2018) An estimation of the prevalence of genomic disorders using chromosomal microarray data. J Hum Genet 63:795-801
Jin, Haoxing Douglas; Demmler-Harrison, Gail J; Coats, David K et al. (2017) Long-term Visual and Ocular Sequelae in Patients With Congenital Cytomegalovirus Infection. Pediatr Infect Dis J 36:877-882
Beaudet, Arthur L (2017) Brain carnitine deficiency causes nonsyndromic autism with an extreme male bias: A hypothesis. Bioessays 39:
Marom, Ronit; Jain, Mahim; Burrage, Lindsay C et al. (2017) Heterozygous variants in ACTL6A, encoding a component of the BAF complex, are associated with intellectual disability. Hum Mutat 38:1365-1371

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