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.

1. Human Developmental Genetics Wen-Hann Tan 2. Clefting, Dental, and Craniofacial Syndromes Piranit Nik Kantaputra and Mary L. Marazita 3. Craniosynostosis Amy Feldman Lewanda, Ethylin Wang Jabs and Pedro Alfonso Sanchez-Lara 4. Autosomal Trisomies Shahad Salman, Nathaniel H. Robin, Fady M. Mikhail and Angela Seasely 5. Sex-Chromosome Abnormalities Claus H. Gravholt 6. Deletions and Other Structural Abnormalities of the Autosomes Laura K. Conlin, Ada J.S. Chan, Beverly S. Emanuel and Nancy B. Spinner 7. Hereditary Hearing Impairment Arti Pandya 8. Color Vision Defects Maureen Neitz and Jay Neitz 9. Optic Atrophy Suzie Kim, Grace Shih and Brian P. Brooks 10. Glaucoma Janey L. Wiggs 11. Genetic disorders of the cornea Mohammad A. Bakr, Elmer Tu, Joel Sugar and V. Vinod Mootha 12. Inherited Cataracts and Other Genetic Disorders of the Lens Alan Shiels and J. Fielding Hejtmancik 13. Inherited retinal and choroidal dystrophies Suma P. Shankar 14. Genetics of Strabismus J. Bronwyn Bateman and Sherwin J. Isenberg 15. Anophthalmia, Microphthalmia, and Uveal Coloboma Paige M. Brooks and Brian P. Brooks