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Handbook of Clinical Adult Genetics and Genomics: A Practice-Based Approach provides a thorough overview of genetic disorders that are commonly encountered in adult populatio… Read more
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Handbook of Clinical Adult Genetics and Genomics: A Practice-Based Approach provides a thorough overview of genetic disorders that are commonly encountered in adult populations and supports the full translation of adult genetic and genomic modalities into clinical practice. Expert chapter authors supplement foundational knowledge with case-based strategies for the evaluation and management of genetic disorders in each organ system and specialty area. Topics discussed include employing genetic testing technologies, reporting test results, genetic counseling for adult patients, medical genetics referrals, issues of complex inheritance, gene therapy, and diagnostic and treatment criteria for developmental, cardiovascular, gastrointestinal, neuropsychiatric, pulmonary issues, and much more.
Section I The Practice of Adult Genetics
1. Introduction to the practice of adult genetics
SHWETA U. DHAR
2. Basic concepts of genetics and genomics
JENNIFER E. POSEY
3. Genetic evaluation of an adult
AERON M. SMALL, MONICA GIOVANNI AND MICHAEL F. MURRAY
4. Genetic counseling for adults
TANYA N. EBLE, WENDY R. UHLMANN AND LAUREN E. HIPP
5. Genetic testing in adults
SANDESH C.S. NAGAMANI AND JILL A. ROSENFELD
6. Transitioning to adult care
JOHN CHRISTOPHER BERENS, MARIA BLAZO AND CYNTHIA PEACOCK
7. Preconception and prenatal care
SANDRA DARILEK, SARAH HUGUENARD AND IGNATIA B. VAN DEN VEYVER
Section II Genetic disorders in adults
8. Cancer syndromes
SHWETA U. DHAR AND HUMA RANA
9. Cardiac disorders
JEFFREY ADDISON, LUISA MESTRONI AND MATTHEW R.G. TAYLOR
10. Hereditary connective tissue disorders
DAVID R. MURDOCK, HARRY C. DIETZ III AND GRETCHEN MACCARRICK
11. Disorders that impact reproduction
J. SCOTT GABRIELSEN AND DOLORES J. LAMB
12. Endocrine disorders
DINA WINOGRAD, AVNI MODY, ASHOK BALASUBRAMANYAM AND
SUSAN L. SAMSON
13. Gastrointestinal disorders
JENNIFER WEISS, ANNA ZAKAS AND JESSICA HAUSE
14. Hematological disorders
SARVARI YELLAPRAGADA AND KATIE LEE BERGSTROM
15. Immunologic disorders
WOJCIECH WISZNIEWSKI
16. Intellectual and developmental disabilities
JAIME VENGOECHEA AND AIXA GONZALEZ GARCIA
17. Metabolic disorders
LINDSAY BURRAGE AND RONIT MAROM
18. Mitochondrial disorders
JAYA GANESH AND FERNANDO SCAGLIA
19. Neurologic disorders
FUKI M. HISAMA AND THOMAS D. BIRD
20. Pulmonary disorders
SHWETA U. DHAR AND SANDESH C.S. NAGAMANI
21. Psychiatric disorder
MEGAN E. TUCKER
22. Renal disorders
MIR REZA BEKHEIRNIA AND NASIM BEKHEIRNIA
23. Skeletal disorders
SANDESH C.S. NAGAMANI AND BRENDAN LEE
24. Skin disorders
KRYSTAL M. JONES AND MOISE L. LEVY
Section III Access to Genetic Services
25. Billing and reimbursement
DAVID FLANNERY AND ADNAN ALSADAH
26. Telegenetics and other care models
EDWARD D. ESPLIN, RUTH K. ABRAMSON AND DAVID FLANNERY
27. Ethical, Legal, and Social Implications
CHRISTI J. GUERRINI, AMY L. MCGUIRE AND GABRIEL LAZARO-MUNOZ
Section IV Future Directions
28. Precision medicine in the genomic era
TREVOR D. HADLEY AND SANDESH C.S. NAGAMANI
29. Pharmacogenomics
LILEI ZHANG AND KEVIN E. GLINTON
30. Gene therapy and gene editing
NICOLA BRUNETTI-PIERRI
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