Journals Higher Education
Important OUP's Response to COVID-19 Learn more



Published: 07 September 2017

936 Pages


ISBN: 9780199557509

Also Available As:


Also Available In:

Bookseller Code (AU)

Oxford Desk Reference: Clinical Genetics and Genomics

Second Edition

Helen V. Firth and Jane A. Hurst

Oxford Desk Reference Series

  • The gold standard for clinical consultation in genetics
  • Includes 79 clinical approaches and 54 common consultations, in an easy-to-use A-Z format
  • Sets out practical strategies for investigations and management
  • Includes the most frequent referrals to a geneticist for out-patient or ward consultation
  • Each section has been reviewed by world experts in the field

New to this Edition:

  • Comprehensively updated and revised for the genomic era
  • Many new figures, tables, and illustrations enhance understanding and provide quicker reference for key concepts
  • Fifteen new topics increase the depth of this already comprehensive resource: Sudden cardiac death, Ciliopathies, Genetic basis of cancer, Genomic sequencing and interpretation of data from WES or WGS analyses, Timing and origin of new dominant mutations, Congenital hypothyroidism, Intracranial calcification, Prostate cancer, Renal cancer, Fetal akinesia, Neonatal (newborn) screening (NS), Non-invasive prenatal diagnosis/testing (NIPD/T), Oligohydramnios (Including Potter/ Oligohydramnios sequence), Paternal age, and Polyhydramnios.

Also of Interest