Medical/Professional School, Mayo Medical School, Rochester。 Residency, Pediatrics, Gundersen Medical Foundation - La Crosse Lutheran, La Crosse。 Fellowship: Neurology, Baylor College of Medicine, Houston Medical Biochemical Genetics, Mayo Graduate School of Medicine - Mayo Foundation, Rochester。 William Dobyns, MD, has made major contributions to the field of human genetics, particularly the nature and genetic causes of developmental disorders including mental retardation, autism and brain malformations. As both a medical geneticist and pediatric neurologist, Dr. Dobyns offers a rare combination of expertise. He examines patients with all types of genetic diseases, emphasizing children with complex developmental problems. He also offers genetic counseling for families of these children. Dr. Dobyns is a recognized expert on many complex developmental disorders of the brain including mental retardation, autism, birth defects of the cerebellum such as Dandy-Walker malformation, and birth defects of the cerebral hemispheres such as microcephaly and megalencephaly (small and large brain size), lissencephaly or “smooth brain” disorder, and polymicrogyria (pebbled brain surface). He has made significant contributions to the understanding, classification and genetic cause of many different developmental disorders. Dr. Dobyns was part of a team that discovered that the FOXC1 gene contributes to Dandy-Walker malformation, a brain defect that occurs in 1 of every 5,000 births. Dr. Dobyns leads a broad-based research program investigating the nature and causes of a wide range of human developmental brain disorders. These include malformations of the forebrain, mid-hindbrain (brainstem and cerebellum) and cerebral cortex, as well as a wide spectrum of developmental disabilities including autism, intellectual disability, early childhood "developmental" forms of epilepsy, and complex developmental disorders combining several of the above. His work includes recognition and delineation of specific conditions, identification of numerous underlying genes, and detailed phenotype and genotype-phenotype analysis. The methods used in his lab include most standard molecular genetics methods plus fluorescence in situ hybridization, chromosome microarrays (comparative genome hybridization), RNA expression arrays, methylation-sensitive assays for X inactivation, standard (Sanger) sequencing, and most recently high-throughput exome sequencing.