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

Emery and Rimoin’s Principles and Practice of Medical Genetics and Genomics, Seventh Edition, Foundations 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 basic theories, concepts, research areas, and the history of medical geneticsProvides a revised and up-to-date reference on the field of medical genetics, including cancer genetics, genomic technologies, genome and exome sequencing, prenatal diagnosis, public health genetics, genetic counseling, and single-cell analysis for diagnosisIncludes a companion website with lecture slides, image banks and links to outside resources and articles

1. Medicine in a Genetic and Genomic Context Reed E. Pyeritz

2. Foundations and Application of Precision Medicine Geoffrey S. Ginsburg and Susanne B. Haga

3. Nature and Frequency of Genetic Disease Bruce R. Korf, Reed E. Pyeritz and Wayne W. Grody

4. Genome and Gene Structure Madhuri R. Hegde and Michael R. Crowley

5. Epigenetics Rosanna Weksberg, Darci T. Butcher, Cheryl Cytrynbaum, Michelle T. Siu, Sanaa Choufani and Benjamin Tycko

6. Human Genomic Variants and Inherited Disease: Molecular Mechanisms and Clinical Consequences Stylianos E. Antonarakis and David N. Cooper

7. Genes in Families Jackie Cook

8. Analysis of Genetic Linkage Rita M. Cantor

9. Chromosomal Basis of Inheritance Fady M. Mikhail

10 Mitochondrial Biology and Medicine Douglas C. Wallace, Marie T. Lott and Vincent Procaccio

11. Multifactorial Inheritance and Complex Diseases Allison Fialkowski, T. Mark Beasley and Hemant K. Tiwari

12. Population Genetics H. Richard Johnston, Bronya J.B. Keats and Stephanie L. Sherman

13. Pathogenetics of Disease Reed E. Pyeritz

14. Twins and Twinning Mark P. Umstad, Lucas Calais-Ferreira, Katrina J. Scurrah, Judith G. Hall and Jeffrey M. Craig

15. The Biological Basis of Aging: Implications for Medical Genetics Junko Oshima, Fuki M. Hisama and George M. Martin

16. Pharmacogenomics Daniel W. Nebert and Ge Zhang