Journals
- American Journal of Human GeneticsISSN: 0002-9297 / 1537-6605
- npj Genomic MedicineISSN: 2056-7944
Ebooks
Emery and Rimoin's Principles and Practice of Medical Genetics and Genomics by
Emery and Rimoin's Principles and Practice of Medical Genetics and Genomics: Perinatal and Reproductive Genetics, Seventh Edition 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 in this growing field. The book is ideal 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. Chapters from leading international researchers and clinicians focus on topics ranging from single gene testing to whole genome sequencing, whole exome sequencing, gene therapy, genome editing approaches, FDA regulations on genomic testing and therapeutics, and ethical aspects of employing genomic technologies.
ISBN: 9780128152362Publication Date: 2021
Emery and Rimoin's Principles and Practice of Medical Genetics and Genomics by
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.With regular advances in genomic technologies propelling precision medicine into the clinic, the seventh edition of Emery and Rimoin's Principles and Practice of Medical Genetics and Genomics bridges the gap between high-level molecular genetics and practical application and serves as an invaluable clinical tool for the health professionals and researchers.
ISBN: 9780128125366Publication Date: 2018
Genomics in the Clinic by
Genomics in the Clinic: A Practical Guide to Genetic Testing, Evaluation, and Counseling illustrates the current scope of the practice of genetics for healthcare professionals, so they can understand principles applicable to genetic testing and consultation. Written by an authoritative well-balanced team, including experienced clinical geneticists, genetic counselors, and medical subspecialists, this book adopts an accessible, easy-to-follow format. Sections are dedicated to basic genetic principles; clinical genetic and genomic testing; prenatal, clinical and cancer genetic diagnosis and counseling; and ethical and social implications in genomic medicine. Over 100 illustrative cases examine a range of prenatal, pediatric and adult genetic conditions and testing, putting these concepts and approaches into practice. Genomics in the Clinic: A Practical Guide to Genetic Testing, Evaluation, and Counseling is important for primary care providers, as patient care evolves in the current genomic-influenced world of precision medicine.
ISBN: 9780128164785Publication Date: 2023
Neurodevelopmental Pediatrics: Genetic and Environmental Influences by
This book explores the interrelationship of genetics, the environment, or both, in the causation of three neurodevelopmental disorders: autism/autism spectrum disorder (ASD), fetal alcohol spectrum disorder (FASD), and cerebral palsy (CP). It links common clinical problems in developmental pediatrics and pediatric neurology to current concepts and translational research advances in developmental neurosciences, medical genetics, and related disciplines. The first section of the book provides a comprehensive and up-to-date overview of development of the brain, including topics such as neuronal stem cells, epigenetics, and the influence of the prenatal environment. The next three sections analyze the epidemiology, diagnosis, interventions, and controversies and research directions associated with each of the three neurodevelopmental disorders. It also examines co-morbidities common to all three disorders, such as disturbed sleep, seizures, behavioral disorders, and pain. It concludes by highlighting the impact of ASD, FASD, and CP on family dynamics and provides tools and resources based on foundational concepts such as neuroethics, bioinformatics, community engagement, and advocacy. Learning objectives, key points, clinical vignettes, and multiple choice questions are incorporated throughout the book. With its comprehensive treatment of disease mechanisms, genetics, and pathophysiology associated with these disorders and its discussion of potential therapies and novel treatments, Neurodevelopmental Pediatrics: Genetic and Environmental Influences is an essential resource for developmental pediatricians, child neurologists, fellows, residents and graduate students.
ISBN: 9783031207921Publication Date: 2023
