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Handbook of Clinical Adult Genetics and Genomics

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Handbook of Clinical Adult Genetics and Genomics
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  • 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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