New Clinical Genetics, third edition

 
In the few years since the previous edition technical progress, especially the widespread use of whole-genome technologies, has brought many advances in the understanding, diagnosis and treatment of genetic disease. As a result, most chapters have been substantially rewritten and updated to reflect this. The unique structure and format remains the same, but significant new material has been added to cover:

•the widespread use of next-generation sequencing as a routine diagnostic tool
•the checking of a patient’s whole exome for the cause of their problem
•noninvasive prenatal diagnosis by next-generation sequencing of free fetal DNA in the maternal circulation
•a new integrated treatment of epigenetics
•mosaicism, ‘RASopathies’ and disorders of the spliceosome are described in new Disease boxes
•dysmorphology in more detail New Clinical Genetics continues to offer the most innovative case-based approach to modern genetics.

It is used worldwide as a textbook for medical students, but also as an essential guide to the field for genetic counselors, physician assistants, and clinical and nurse geneticists.

Reviews of earlier editions:
“This book provides a wonderful case-based learning environment. There are also self-assessment questions. Students are not given model answers but are provided with guidance on how to work out the correct answers for themselves. Excellent!”      Human Genetics
“This book is a very valuable tool that will be used by future geneticists all over Europe and beyond, both as a teaching material and as a source of excellent knowledge.”    European Journal of HumanGenetics