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

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Book:
Emery and Rimoin’s Principles and Practice of Medical Genetics and Genomics: Clinical Principles and Applications
Author:
Reed Pyeritz / Bruce Korf / Wayne Grody
Publisher:
Academic Press / Elsevier
Genre:
Books / Science
Year:
2018
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For decades, Emery and Rimoins 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 worlds 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 FeaturesFully 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 practiceExamines 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 medicineIncludes color images supporting identification, concept illustration, and method processingFeatures contributions by leading international researchers and practitioners of medical genetics ReadershipStudents, 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

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Table of Contents

List of Figures

Figures in 1
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Figures in Chapter 5
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List of Tables

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Tables in Chapter 5
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Landmarks

Emery and Rimoin's Principles and Practice of Medical Genetics and Genomics

Clinical Principles and Applications

Seventh Edition

Editors

Reed E. Pyeritz

Perelman School of Medicine at the University of Pennsylvania, Philadelphia, PA, United States

Bruce R. Korf

University of Alabama at Birmingham, Birmingham, AL, United States

Wayne W. Grody

UCLA School of Medicine, Los Angeles, CA, United States

Table of Contents

Academic Press is an imprint of Elsevier

125 London Wall, London EC2Y 5AS, United Kingdom

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No part of this publication may be reproduced or transmitted in any form or by any means, electronic or mechanical, including photocopying, recording, or any information storage and retrieval system, without permission in writing from the publisher. Details on how to seek permission, further information about the Publishers permissions policies and our arrangements with organizations such as the Copyright Clearance Center and the Copyright Licensing Agency, can be found at our website: www.elsevier.com/permissions.

This book and the individual contributions contained in it are protected under copyright by the Publisher (other than as may be noted herein).

Notices

Knowledge and best practice in this field are constantly changing. As new research and experience broaden our understanding, changes in research methods, professional practices, or medical treatment may become necessary.

Practitioners and researchers must always rely on their own experience and knowledge in evaluating and using any information, methods, compounds, or experiments described herein. In using such information or methods they should be mindful of their own safety and the safety of others, including parties for whom they have a professional responsibility.

To the fullest extent of the law, neither the Publisher nor the authors, contributors, or editors, assume any liability for any injury and/or damage to persons or property as a matter of products liability, negligence or otherwise, or from any use or operation of any methods, products, instructions, or ideas contained in the material herein.

Library of Congress Cataloging-in-Publication Data

A catalog record for this book is available from the Library of Congress

British Library Cataloguing-in-Publication Data

A catalogue record for this book is available from the British Library

ISBN: 978-0-12-812536-6

For information on all Academic Press publications visit our website at https://www.elsevier.com/books-and-journals

Publisher Andre Wolff Senior Acquisition Editor Peter B Linsley Editorial - photo 3

Publisher: Andre Wolff

Senior Acquisition Editor: Peter B. Linsley

Editorial Project Manager: Pat Gonzalez

Production Project Manager: Punithavathy Govindaradjane

Designer: Matthew Limbert

Typeset by TNQ Technologies

List of Contributors

Sura Alwan , Department of Medical Genetics, University of British Columbia, Vancouver, BC, Canada

Angus John Clarke

Institute of Medical Genetics, University Hospital of Wales, Heath Park, Cardiff, Wales, United Kingdom

Institute of Medical Genetics, School of Medicine, Heath Park, Cardiff, Wales, United Kingdom

Kenneth H. Astrin

Department of Genetics and Genomic Sciences, Mount Sinai School of Medicine, New York, NY, United States

Department of Preclinical Sciences, New York College of Podiatric Medicine, New York, NY, United States

Marina Bartsakoulia , University of Patras School of Health Sciences, Department of Pharmacy, Patras, Greece

Deepika DCunha Burkardt , Medical Genetics Resident, Center for Human Genetics, University Hospitals/Case Western Reserve University, Cleveland, OH, United States

Constantina Chalikiopoulou , University of Patras School of Health Sciences, Department of Pharmacy, Patras, Greece

Joshua L. Deignan , Departments of Pathology and Laboratory Medicine, David Geffen School of Medicine at UCLA, University of California, Los Angeles, CA, United States

Robert J. Desnick , Department of Genetics and Genomic Sciences, Mount Sinai School of Medicine, New York, NY, United States

Shweta U. Dhar , Department of Molecular & Human Genetics, Baylor College of Medicine, Houston, TX, United States

Debra Lochner Doyle , Washington State Department of Health Screening and Genetics, Kent, WA, United States

Malcolm A. Ferguson-Smith , Cambridge Resource Centre for Comparative Genomics, Department of Veterinary Medicine, University of Cambridge, Cambridge, United Kingdom

Jan M. Friedman , Department of Medical Genetics, University of British Columbia, Vancouver, BC, Canada

John M. Graham Jr.

Consultant in Clinical Genetics and Dysmorphology, Cedars-Sinai Medical Center, Los Angeles, CA, United States

Consultant in Clinical Genetics and Dysmorphology, Harbor-UCLA Medical Center, Torrance, CA, United States

Professor Emeritus of Pediatrics, David Geffen School of Medicine at UCLA, Los Angeles, CA, United States

Daniel Graziano , Tissue Typing Laboratory, Allegheny Health Network, Allegheny General Hospital, Pittsburgh, PA, United States

Wayne W. Grody , UCLA School of Medicine, Los Angeles, CA, United States

Rachel Irving , Institute of Medical Genetics, University Hospital of Wales, Heath Park, Cardiff, Wales, United Kingdom

Kenneth L. Jones

Department of Pediatrics, University of California, San Diego, CA, United States

Rady Childrens Hospital, San Diego, CA, United States

Marilyn C. Jones

Department of Pediatrics, University of California, San Diego, CA, United States

Rady Childrens Hospital, San Diego, CA, United States

Theodora Katsila , University of Patras School of Health Sciences, Department of Pharmacy, Patras, Greece

Muin J. Khoury , The Centers for Disease Control and Prevention, Office of Public Health Genomics, Atlanta, GA, United States

Matthew J. McGinniss , Principal Consultant, Trinitas Genomics Inc., San Diego, CA, United States

Molly A. McGinniss , Senior Market Development Manager, Illumina Inc., San Diego, CA, United States

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