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

English | 2025 | PDF | 38 MB | 535 Pages

Reed E. Pyeritz, Bruce R. Korf, Wayne W. Grody, B0DNR8VCH1, 9780128152348, 978-0128152348, 978-0-12-815234-8, 0128152346, 0128152354, 9780128152355, 978-0128152355

For decades, Emery and Rimoin’s Principles and Practice of Medical Genetics and Genomics has served as the ultimate resource for clinicians integrating genetics and genomics into medical practice. With detailed coverage in contributions from more than 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 sequencing, public health genetics, genetic counseling, and management and treatment strategies to complete its coverage of this growing field for students, health providers, and researchers involved in the care of patients with genetic conditions, and increasingly, all areas of health and disease. This comprehensive yet practical resource emphasizes theory and research fundamentals related to the applications of medical genetics and genomics across the full spectrum of inherited disorders and applications to medicine more broadly. In this volume, leading physicians and researchers thoroughly examine medical genetics and genomics as applied to developmental disorders, as well as genetic conditions that affect hearing and vision. Here genetic researchers, students, and health professionals will find new and fully revised chapters on human developmental genetics, disorders affecting craniofacial development, chromosomal abnormalities, including aneuploidies and structural abnormalities, hereditary hearing impairment, and various genetic conditions of the eye. 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 health professionals and researchers.

– Thoroughly introduces genetic researchers, students, and healthcare professionals to the principles of human developmental genetics
– Examines a wide range of developmental disorders, including craniofacial development as well as disorders affecting hearing and vision
– Includes color images supporting identification, concept illustration, and method processing
– Features contributions by leading international researchers and practitioners of medical genetics