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There are 8164 results for: content related to: Detection of clinically relevant exonic copy-number changes by array CGH

  1. You have free access to this content
    Structural variation mutagenesis of the human genome: Impact on disease and evolution

    Environmental and Molecular Mutagenesis

    Volume 56, Issue 5, June 2015, Pages: 419–436, James R. Lupski

    Version of Record online : 17 APR 2015, DOI: 10.1002/em.21943

  2. Genomic and clinical characteristics of microduplications in chromosome 17

    American Journal of Medical Genetics Part A

    Volume 152A, Issue 5, May 2010, Pages: 1101–1110, Oleg A. Shchelochkov, S.W. Cheung and J.R. Lupski

    Version of Record online : 7 APR 2010, DOI: 10.1002/ajmg.a.33248

  3. Common recurrent microduplication syndromes: Diagnosis and management in clinical practice

    American Journal of Medical Genetics Part A

    Volume 152A, Issue 5, May 2010, Pages: 1066–1078, Jonathan S. Berg, Lorraine Potocki and Carlos A. Bacino

    Version of Record online : 7 APR 2010, DOI: 10.1002/ajmg.a.33185

  4. Detection of Clinically Relevant Copy Number Variants with Whole-Exome Sequencing

    Human Mutation

    Volume 34, Issue 10, October 2013, Pages: 1439–1448, Joep de Ligt, Philip M. Boone, Rolph Pfundt, Lisenka E.L.M. Vissers, Todd Richmond, Joel Geoghegan, Kathleen O'Moore, Nicole de Leeuw, Christine Shaw, Han G. Brunner, James R. Lupski, Joris A. Veltman and Jayne Y. Hehir-Kwa

    Version of Record online : 30 AUG 2013, DOI: 10.1002/humu.22387

  5. Causes and Consequences of Structural Genomic Alterations in the Human Genome

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    eLS

    Lesley Hart and Mark O'Driscoll

    Published Online : 20 SEP 2013, DOI: 10.1002/9780470015902.a0024976

  6. Challenges in clinical interpretation of microduplications detected by array CGH analysis

    American Journal of Medical Genetics Part A

    Volume 152A, Issue 5, May 2010, Pages: 1089–1100, Pawel Stankiewicz, Amber N. Pursley and Sau Wai Cheung

    Version of Record online : 5 APR 2010, DOI: 10.1002/ajmg.a.33216

  7. Gene copy number variation and common human disease

    Clinical Genetics

    Volume 77, Issue 3, March 2010, Pages: 201–213, M Fanciulli, E Petretto and TJ Aitman

    Version of Record online : 10 DEC 2009, DOI: 10.1111/j.1399-0004.2009.01342.x

  8. Opposing phenotypes in mice with Smith–Magenis deletion and Potocki–Lupski duplication syndromes suggest gene dosage effects on fluid consumption behavior

    American Journal of Medical Genetics Part A

    Volume 158A, Issue 11, November 2012, Pages: 2807–2814, Detlef H. Heck, Wenli Gu, Ying Cao, Shuhua Qi, Melanie Lacaria and James R. Lupski

    Version of Record online : 18 SEP 2012, DOI: 10.1002/ajmg.a.35601

  9. Sequence analysis of 17 NRXN1 deletions

    American Journal of Medical Genetics Part B: Neuropsychiatric Genetics

    Volume 165, Issue 1, January 2014, Pages: 52–61, Louise Kristine Enggaard Hoeffding, Thomas Hansen, Andrés Ingason, Linh Doung, Johan H. Thygesen, Rikke S. Møller, Niels Tommerup, George Kirov, Dan Rujescu, Lars A. Larsen and Thomas Werge

    Version of Record online : 25 SEP 2013, DOI: 10.1002/ajmg.b.32204

    Corrected by:

    Erratum: Erratum: Sequence analysis of 17 NRXN1 deletions

    Vol. 165, Issue 3, 261, Version of Record online: 12 MAR 2014

  10. Contrasting mechanisms of de novo copy number mutagenesis suggest the existence of different classes of environmental copy number mutagens

    Environmental and Molecular Mutagenesis

    Volume 57, Issue 1, January 2016, Pages: 3–9, Hailey N. Conover and Juan Lucas Argueso

    Version of Record online : 6 AUG 2015, DOI: 10.1002/em.21967

  11. Structural Diversity of the Human Genome and Disease Susceptibility

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    eLS

    Richard S Smith, María Gutiérrez-Arcelus, Charles W Tran, Stephanie Park, Cheryn J Couter and Charles Lee

    Published Online : 15 JUL 2008, DOI: 10.1002/9780470015902.a0020764

  12. You have free access to this content
    The impact of human copy number variation on a new era of genetic testing

    BJOG: An International Journal of Obstetrics & Gynaecology

    Volume 117, Issue 4, March 2010, Pages: 391–398, KW Choy, SR Setlur, C Lee and TK Lau

    Version of Record online : 26 JAN 2010, DOI: 10.1111/j.1471-0528.2009.02470.x

  13. Unraveling the genetic architecture of copy number variants associated with schizophrenia and other neuropsychiatric disorders

    Journal of Neuroscience Research

    Timothy P. Rutkowski, Jason P. Schroeder, Georgette M. Gafford, Stephen T. Warren, David Weinshenker, Tamara Caspary and Jennifer G. Mulle

    Version of Record online : 8 NOV 2016, DOI: 10.1002/jnr.23970

  14. Copy number variation in the genomes of domestic animals

    Animal Genetics

    Volume 43, Issue 5, October 2012, Pages: 503–517, A. Clop, O. Vidal and M. Amills

    Version of Record online : 6 MAR 2012, DOI: 10.1111/j.1365-2052.2012.02317.x

  15. You have free access to this content
    Copy number variants are produced in response to low-dose ionizing radiation in cultured cells

    Environmental and Molecular Mutagenesis

    Volume 55, Issue 2, March 2014, Pages: 103–113, Martin F. Arlt, Sountharia Rajendran, Shanda R. Birkeland, Thomas E. Wilson and Thomas W. Glover

    Version of Record online : 10 DEC 2013, DOI: 10.1002/em.21840

  16. You have free access to this content
    Copy-number variation in the pathogenesis of autism spectrum disorder

    Psychiatry and Clinical Neurosciences

    Volume 68, Issue 2, February 2014, Pages: 85–95, Emiko Shishido, Branko Aleksic and Norio Ozaki

    Version of Record online : 29 DEC 2013, DOI: 10.1111/pcn.12128

  17. Use of Affymetrix Arrays in the Diagnosis of Gene Copy-Number Variation

    Unit

    Current Protocols in Human Genetics

    8:8.13.1–8.13.13

    Farah R. Zahir and Marco A. Marra

    Published Online : 1 APR 2015, DOI: 10.1002/0471142905.hg0813s85

  18. Circadian abnormalities in mouse models of smith–magenis syndrome: Evidence for involvement of RAI1

    American Journal of Medical Genetics Part A

    Volume 161, Issue 7, July 2013, Pages: 1561–1568, Melanie Lacaria, Wenli Gu and James R Lupski

    Version of Record online : 23 MAY 2013, DOI: 10.1002/ajmg.a.35941

  19. On the sequence-directed nature of human gene mutation: The role of genomic architecture and the local DNA sequence environment in mediating gene mutations underlying human inherited disease

    Human Mutation

    Volume 32, Issue 10, October 2011, Pages: 1075–1099, David N. Cooper, Albino Bacolla, Claude Férec, Karen M. Vasquez, Hildegard Kehrer-Sawatzki and Jian-Min Chen

    Version of Record online : 2 SEP 2011, DOI: 10.1002/humu.21557

  20. Genome-wide copy number variation in the bovine genome detected using low coverage sequence of popular beef breeds,

    Animal Genetics

    B. N. Keel, J. W. Keele and W. M. Snelling

    Version of Record online : 24 OCT 2016, DOI: 10.1111/age.12519