Oxford Desk Reference: Clinical Genetics and Genomics

A comprehensive guide for clinical consultations in genetics and genomic medicine, this book is a must-have tool for healthcare professionals. It covers the process of diagnosis, investigation, management, and counseling for patients, providing a strong evidence base and international guidelines.

Key Features

• Accessible A to Z format for quick reference during practice
• Highly illustrated with up-to-date glossaries of terms used in genetics and dysmorphology
• Covers new developments in the field, including genome-wide sequencing and major updates in cancer
• Includes 15 new topics such as Sudden cardiac death, Neonatal screening, and Ciliopathies
• Provides practical clinical approach to common genetic referrals, both outpatient and ward based
• Covers Mendelian disorders, chromosomal disorders, congenital anomalies, and syndromes with diagnostic criteria
• Information on less common situations where management is particularly complex

About the Authors

Helen V. Firth and Jane A. Hurst are renowned experts in the field of genetics and genomic medicine. Their experience and knowledge have been instrumental in devising a practical clinical approach to many common genetic referrals.

Publication Details

Series: Oxford Desk Reference Series

Pages: 944

Publisher: Oxford University Press

Edition: 2nd Edition

Publication Date: November 7, 2017

Language: English

ISBN-10: 0199557500

ISBN-13: 978-0199557509

Dimensions: 9.6 x 2 x 6.9 inches