Genomic Disorders

The Genomic Basis of Disease

  • James R. Lupski
  • Pawel Stankiewicz

Table of contents

  1. Front Matter
    Pages i-xvii
  2. Introduction

    1. Front Matter
      Pages 1-1
    2. James R. Lupski, Vincent Timmerman
      Pages 3-17
  3. Genomic Structure

    1. Front Matter
      Pages 19-19
    2. Prescott Deininger
      Pages 21-34
    3. Amy E. Hulme, Deanna A. Kulpa, José Luis Garcia Perez, John V. Moran
      Pages 35-55
    4. Andrew J. Sharp, Evan E. Eichler
      Pages 73-88
    5. Albino Bacolla, Robert D. Wells
      Pages 89-99
    6. Idan Menashe, Ester Feldmesser, Doron Lancet
      Pages 101-113
    7. Huntington E Willard, M. Katharine Rudd
      Pages 115-129
  4. Genome Evolution

    1. Front Matter
      Pages 131-131
    2. Stefan Müller
      Pages 133-152
    3. Mariano Rocchi, Nicoletta Archidiacono
      Pages 153-165
  5. Genomic Rearrangements and Disease Traits

    1. Front Matter
      Pages 167-167
    2. Vincent Timmerman, James R. Lupski
      Pages 169-178
    3. Bernice E. Morrow
      Pages 193-206
    4. Karen Stephens
      Pages 207-219
    5. Stephen W. Scherer, Lucy R. Osborne
      Pages 221-236
    6. Naohiro Kurotaki, Naomichi Matsumoto
      Pages 237-246
    7. Pauline H. Yen
      Pages 247-262
    8. Matthew E. Hurles, Chris Tyler-Smith
      Pages 273-288
    9. Orsetta Zuffardi, Roberto Ciccone, Sabrina Giglio, Tiziano Pramparo
      Pages 289-299
    10. Blake C. Ballif, Lisa G. Shaffer
      Pages 301-314
    11. Heather E. McDermid, Rachel Wevrick
      Pages 315-325
  6. Functional Aspects of Genome Structure

    1. Front Matter
      Pages 339-339
    2. Matthew E. Hurles, James R. Lupski
      Pages 341-355
    3. Pawel Stankiewicz
      Pages 357-369
  7. Genomic Disorders: Modeling And Assays

    1. Front Matter
      Pages 371-371
    2. Pentao Liu
      Pages 373-387
    3. Nigel P. Carter, Heike Fiegler, Susan Gribble, Richard Redon
      Pages 389-399
  8. Back Matter
    Pages 401-427

About this book


It is now abundantly clear that architectural features of the human genome can lead to DNA rearrangements that cause both disease and behavioral traits. In Genomic Disorders: The Genomic Basis of Disease, distinguished experts and pioneers in the field of genomics and genome rearrangements summarize and synthesize the tremendous amount of data now available in the postgenomic era on the structural features, architecture, and evolution of the human genome. The authors demonstrate how such architectural features may be important to evolution and explaining the susceptibility to those DNA rearrangements associated with disease. Technologies to assay for such structural variation of the human genome and model genomic disorders in mice are also presented. Two appendices detail the genomic disorders, providing genomic features at the locus undergoing rearrangement, their clinical features, and frequency of detection.
Comprehensive and clinically relevant, Genomic Disorders: The Genomic Basis of Disease offers genome and clinical genetics researchers not only an up-to-date survey of genome architecture, but also details those rearrangements that can be the underlying cause or basis of many human traits and disorders.


DNA chromosome diseases evolution genome genome structure microarray mouse organizations retroviruses

Editors and affiliations

  • James R. Lupski
    • 1
  • Pawel Stankiewicz
    • 1
  1. 1.Department of Molecular and Human GeneticsBaylor College of MedicineHouston

Bibliographic information

  • DOI
  • Copyright Information Humana Press Inc. 2006
  • Publisher Name Humana Press
  • eBook Packages Medicine
  • Print ISBN 978-1-58829-559-0
  • Online ISBN 978-1-59745-039-3
  • Buy this book on publisher's site