Moyra Smith, MD, PhD, has been conducting research in human genetics since 1965. She served as Clinical geneticist and Director of the Newborn screening Program at the University of California Irvine for 19 years and is currently Professor Emeritus at that institution. Her latest research includes studies of nuclear and mitochondrial genomics in autism

"Painstakingly curates an impressive swath of very serious science published in [Smith's] field of functional genomics up until 2009, and is modest in its claims about how we can currently apply the findings to medicine." -- European Journal of Human Genetics

• Table of Contents Chapter 1. Phenotype and Functional Genomics: IntroductionChapter 2. Evolution Chapter 3. Genomic architecture and copy number changesChapter 4. Linkage, association and linkage disequilibriumChapter 5. Regulation of transcription, splicing and translation: impact of perturbation on phenotypeChapter 6. Mitochondria: genome, functions and phenotypeChapter 7. Quality surveillanceChapter 8. Neurodevelopment and functional genomicsChapter 9. Neurobehavioral disordersChapter 10. Molecular analyses of malformation syndromes Chapter 11. Multiple pathways including environmental factors that lead to a specific phenotype with later onset Epilogue

Moyra Smith, MD, PhD, has been conducting research in human genetics since 1965. She served as Clinical geneticist and Director of the Newborn screening Program at the University of California Irvine for 19 years and is currently Professor Emeritus at that institution. Her latest research includes studies of nuclear and mitochondrial genomics in autism

"Painstakingly curates an impressive swath of very serious science published in [Smith's] field of functional genomics up until 2009, and is modest in its claims about how we can currently apply the findings to medicine." -- European Journal of Human Genetics

• Table of Contents Chapter 1. Phenotype and Functional Genomics: IntroductionChapter 2. Evolution Chapter 3. Genomic architecture and copy number changesChapter 4. Linkage, association and linkage disequilibriumChapter 5. Regulation of transcription, splicing and translation: impact of perturbation on phenotypeChapter 6. Mitochondria: genome, functions and phenotypeChapter 7. Quality surveillanceChapter 8. Neurodevelopment and functional genomicsChapter 9. Neurobehavioral disordersChapter 10. Molecular analyses of malformation syndromes Chapter 11. Multiple pathways including environmental factors that lead to a specific phenotype with later onset Epilogue

Moyra Smith, MD, PhD, has been conducting research in human genetics since 1965. She served as Clinical geneticist and Director of the Newborn screening Program at the University of California Irvine for 19 years and is currently Professor Emeritus at that institution. Her latest research includes studies of nuclear and mitochondrial genomics in autism

"Painstakingly curates an impressive swath of very serious science published in [Smith's] field of functional genomics up until 2009, and is modest in its claims about how we can currently apply the findings to medicine." -- European Journal of Human Genetics

• Table of Contents Chapter 1. Phenotype and Functional Genomics: IntroductionChapter 2. Evolution Chapter 3. Genomic architecture and copy number changesChapter 4. Linkage, association and linkage disequilibriumChapter 5. Regulation of transcription, splicing and translation: impact of perturbation on phenotypeChapter 6. Mitochondria: genome, functions and phenotypeChapter 7. Quality surveillanceChapter 8. Neurodevelopment and functional genomicsChapter 9. Neurobehavioral disordersChapter 10. Molecular analyses of malformation syndromes Chapter 11. Multiple pathways including environmental factors that lead to a specific phenotype with later onset Epilogue