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

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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. Clinical Principles and Applications thoroughly addresses general methods and approaches to genetic counseling, genetic diagnostics, treatment pathways, and drug discovery. Additionally, new and updated chapters explore the clinical implementation of genomic technologies, analytics, and therapeutics, with special attention paid to developing technologies, common challenges, patient care, and ethical and legal aspects. View more > Key Features Fully revised and up-to-date, this new edition introduces genetic researchers, students, and health professionals to general principles of genetic counseling, genetic and genomic diagnostics, treatment pathways, drug discovery, and the application of genomic technologies, analytics, and therapeutics in clinical practice Examines key topics and developing areas within clinical genomics, including genetic evaluation of patients, clinical trials and drug discovery, genetic health records, cytogenetic analysis, diagnostic molecular genetics, small molecule genetic therapeutics, gene product replacement, clinical teratology, transplantation genetics, and ethical and legal aspects of genomic medicine Includes color images supporting identification, concept illustration, and method processing Features contributions by leading international researchers and practitioners of medical genetics Readership Students, physicians, and researchers in the field of medical genetics and personalized medicine; medical practitioners across medical disciplines as well as systems biology, molecular medicine, and genetic epidemiology; genetic counselors; genetic researchers in industry and pharma

Author(s): Reed Pyeritz, Bruce Korf, Wayne Grody
Edition: 7th Edition
Publisher: Academic Press / Elsevier
Year: 2018

Language: English
Pages: 0
Tags: Medical Genetics; Personalized Medicine

1. A Clinical Approach to the Dysmorphic Child
Kenneth L. Jones and Marilyn C. Jones
2. Clinical Teratology
Sura Alwan and Jan M. Friedman
3. Neurodevelopmental Disabilities: Global Developmental Delay, Intellectual Disability, and Autism
John B. Moeschler
4. Abnormal Body Size and Proportion
Deepika D’Cunha Burkardt and John M. Graham Jr
5. Cytogenetic Analysis
Nancy B. Spinner and Malcolm A. Ferguson-Smith
6. Diagnostic Molecular Genetics
Wayne W. Grody and Joshua L. Deignan
7. Therapies for Lysosomal Storage Diseases
Robert J. Desnick, Kenneth H. Astrin and Edward H. Schuchman
8. Transplantation Genetics
Daniel Graziano and Massimo Trucco
9. Genetic Evaluation for Common, Chronic Disorders of Adulthood 265
Maren T. Scheuner and Shweta U. Dhar
10. Carrier Screening and Heterozygote Testing
Matthew J. McGinniss and Molly A. McGinniss
11. Circadian Rhythms and Disease
Shirley L. Zhang and Amita Sehgal
12. The Genomic Health Record: Current Status and Vision for the Future
Marc S. Williams
13. Ethical and Social Issues in Clinical Genetics
Rachel Irving and Angus John Clarke
14. Genetics and Genomics in Public Health
Debra Lochner Doyle and Muin J. Khoury
15. Implementation of Genomic Medicine: An International Perspective
Angeliki Panagiotara, Efthymios Skoufas, Constantina Chalikiopoulou, Evangelia-Eirini Tsermpini, Marina Bartsakoulia, Theodora Katsila and George P. Patrinos