Emery and Rimoin’s Principles and Practice of Medical Genetics and Genomics: Clinical Principles and Applications

Emery and Rimoin’s Principles and Practice of Medical Genetics and Genomics, Seventh Edition, Clinical Principles and Applications includes the latest information on seminal topics, such as prenatal diagnosis, genome and exome sequencing, public health genetics, genetic counseling, and management and treatment strategies. It is an ideal reference for medical students, residents, physicians and researchers involved in the care of patients with genetic conditions. This comprehensive resource emphasizes theory and research fundamentals related to the applications of medical genetics across the full spectrum of inherited disorders. Clinically oriented information is supported by full-color images and expanded sections on the foundations of genetic analytics, NGS and therapeutics.

Users will find an invaluable guide that bridges the gap between high-level molecular genetics and practical applications.

Introduces genetic researchers, students, and health professionals to general principles of genetic counseling, genetic and genomic diagnostics, treatment pathways, drug discovery, and the application of genomic technologies, analytics, and therapeutics in clinical practiceExamines key topics and developing areas within clinical genomics, including the genetic evaluation of patients, clinical trials and drug discovery, genetic health records, cytogenetic analysis, and moreIncludes color images that support the identification, concept illustration and method processingFeatures contributions by leading international researchers and practitioners of medical geneticsA robust companion website offers lecture slides, image banks, and links to outside resources and articles

1. A Clinical Approach to the Dysmorphic Child 2. Clinical Teratology 3. Neurodevelopmental Disabilities: Global Developmental Delay, Intellectual Disability, and Autism 4. Abnormal Body Size and Proportion 5. Cytogenetic Analysis 6. Diagnostic Molecular Genetics 7. Therapies for Lysosomal Storage Diseases 8. Transplantation Genetics 9. Genetic Evaluation for Common, Chronic Disorders of Adulthood 265 10. Carrier Screening and Heterozygote Testing 11. Circadian Rhythms and Disease 12. The Genomic Health Record: Current Status and Vision for the Future 13. Ethical and Social Issues in Clinical Genetics 14. Genetics and Genomics in Public Health 15. Implementation of Genomic Medicine: An International Perspective