1. Baylor College of Medicine Houston, Texas

2. MRDDRC Cores Administrative Genome Analysis FISH & Genome-based arrays Gene Expression Neuropath; Confocal; RNA in situ; Microarray Tissue Culture Mouse Genetic Engineering ES cell & Mouse injection Mouse Neurobehavior Mouse Physiology

3. Disorders of Interest Because clinical core not funded, the diseases of interest are determined by interests of local BCM PIs Numbers of enrolled human subjects not tracked across or MRDDRC

4. PIs 33 Investigators Molecular and Human Genetics Medicine Neurology/Neuroscience Obstetrics & Gynecology Pathology Pediatric Hematology/Oncology Pediatrics Physical Medicine & Rehabilitation

5. Disorders Represented Aicardi syndromeDown syndromeNeurodegenerative diseases Alzheimer diseaseDystoniaPolycythemia vera Angelman syndromeEpilepsyPrader-Willi syndrome AutismFragile X syndromeRett syndrome Bardet-Biedl syndromeHearing lossRothmund-Thomson syndrome Bone formationGoltz syndromeSchizophrenia Charcot-Marie-Tooth diseaseHypodontiaSmith-Magenis syndrome Coffin Lowry syndromeIncontinentia pigmentiSpinocerebellar ataxia type 1 Congenital cytomegalovirus infectionsMitochondrial dysfunctionTraumatic brain injury Congenital heart defectsMyotonic dystrophyUniparental disomy for chromosome 14 del22q11 syndromeNeural developmentUrea cycle disorders

6. Collaborative Clinical Research RDCRN Primary site for Rett/Angelman/Prader-Willi Collaborating site for Urea Cycle Disorders Collaborating site for CLiC BCM Medical Genetics Diagnostic Labs Collaborate with aforementioned centers to provide clinical/research testing DECIPHER (DatabasE of Chromosome Imbalance & Phenotype in Humans using Ensemble Resources) – Sanger Center