Abstract

For decades, Emery and Rimoin’s Principles and Practice of Medical Genetics has provided the ultimate source for practicing clinicians to learn how the study of genetics can be integrated into practice.

With almost 5,000 pages of detailed coverage, this fully online sixth edition of the classic reference adds the latest information on prenatal diagnosis, genetic screening, genetic counseling, and treatment strategies to complete its coverage of the growing field for medical students, residents and physicians involved in the care of patients with genetic conditions. Clinically oriented information is supported by expanded sections on basic principles of genetics, research approaches, and analytics to embrace the evolving population of students, researchers, and practitioners who are integrating their work to provide advanced diagnosis, prevention and treatment of human disease.

With advances in high-throughput technologies propelling the closer integration of lab and clinical work, this edition bridges the gap between high-level molecular genetics and clinical application.

• Features 174 review-length contributions that encompass traditional and new areas of the field - including in cancer genetics, genomic technologies, and molecular assays
• Provides many thousands of pertinent literature references guiding the reader in identifying related topics
• Fully illustrated with hundreds of color images, supporting identification, concept illustration and method processing

Praise for previous editions

"...the most comprehensive review of genetic knowledge applied to the clinical practice of medical genetics [...] This is a book of magnificent quality. Very few books can be compared to this one. This is a must-have textbook with features that make it a unique source for medical geneticists" Luis F. Escobar, Shock, 2008;30-3:339 doi: 10.1097/01.SHK.0000286299.94327.fa

...to have brought together between the covers of three volumes a comprehensive summary of current thoughts and practices in clinical genetics as practised in the leading departments across the world by some of the greatest geneticists is a magnificent achievement. It is a body of experience from which we can all learn and to which I suspect most of us will continue to turn on a regular basis" Willie Reardon, J Med Genet 2002;39:454 doi:10.1136/jmg.39.6.454-a