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Full Description
For decades, Emery and Rimoin's Principles and Practice of Medical Genetics and Genomics has served as the ultimate resource for clinicians integrating genetics into medical practice. With detailed coverage in contributions from over 250 of the world's most trusted authorities in medical genetics and a series of 11 volumes available for individual sale, the Seventh Edition of this classic reference 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 to complete its coverage of this growing field for medical students, residents, physicians, and researchers involved in the care of patients with genetic conditions. This comprehensive yet practical resource emphasizes theory and research fundamentals related to applications of medical genetics across the full spectrum of inherited disorders and applications to medicine more broadly.
This volume, Foundations, summarizes basic theories, concepts, research areas, and the history of medical genetics, providing a contextual framework for integrating genetics into medical practice. In this new edition, clinically oriented information is supported by full-color images and expanded sections on the foundations of genetic analytics, next generation sequencing, and therapeutics.
With regular advances in genomic technologies propelling precision medicine into the clinic, Emery and Rimoin's Principles and Practice of Medical Genetics and Genomics: Seventh Edition bridges the gap between high-level molecular genetics and practical application and serves as an invaluable clinical tool for the health professionals and researchers.
Contents
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
