Search Results - Lisa G. Shaffer

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  1. 1
    A cytogeneticist's perspective on genomic microarrays

    A cytogeneticist's perspective on genomic microarrays by Lisa G. Shaffer

    Published 2004
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  2. 2
    American College of Medical Genetics guideline on the cytogenetic evaluation of the individual with developmental delay or mental retardation

    American College of Medical Genetics guideline on the cytogenetic evaluation of the individual with developmental delay or mental retardation by Lisa G. Shaffer

    Published 2005
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  3. 3
    Disorders caused by chromosome abnormalities

    Disorders caused by chromosome abnormalities by Lisa G. Shaffer, Theisen

    Published 2010
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  4. 4
    Application of Array-Based Comparative Genomic Hybridization to Clinical Diagnostics

    Application of Array-Based Comparative Genomic Hybridization to Clinical Diagnostics by Bassem A. Bejjani, Lisa G. Shaffer

    Published 2006
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  5. 5
    Clinical Utility of Contemporary Molecular Cytogenetics

    Clinical Utility of Contemporary Molecular Cytogenetics by Bassem A. Bejjani, Lisa G. Shaffer

    Published 2008
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  6. 6
    Cytogenetic Nomenclature: Changes in the ISCN 2013 Compared to the 2009 Edition

    Cytogenetic Nomenclature: Changes in the ISCN 2013 Compared to the 2009 Edition by A. Simons, Lisa G. Shaffer, Ros Hastings

    Published 2013
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  7. 7
    Current controversies in prenatal diagnosis 3: is conventional chromosome analysis necessary in the post‐array CGH era?

    Current controversies in prenatal diagnosis 3: is conventional chromosome analysis necessary in the post‐array CGH era? by The‐Hung Bui, Annalisa Vetro, Orsetta Zuffardi, Lisa G. Shaffer

    Published 2011
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  8. 8
    Nomenclature Evolution: Changes in the ISCN from the 2005 to the 2009 Edition

    Nomenclature Evolution: Changes in the ISCN from the 2005 to the 2009 Edition by Arthur R. Brothman, Diane L. Persons, Lisa G. Shaffer

    Published 2009
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  9. 9
    The Promise and Pitfalls of Telomere Region–Specific Probes

    The Promise and Pitfalls of Telomere Region–Specific Probes by Blake C. Ballif, Catherine D. Kashork, Lisa G. Shaffer

    Published 2000
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  10. 10
    Identification of Uniparental Disomy Following Prenatal Detection of Robertsonian Translocations and Isochromosomes

    Identification of Uniparental Disomy Following Prenatal Detection of Robertsonian Translocations and Isochromosomes by Sue Ann Berend, Juli Horwitz, Christopher McCaskill, Lisa G. Shaffer

    Published 2000
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  11. 11
    Comparative analysis of copy number detection by whole-genome BAC and oligonucleotide array CGH

    Comparative analysis of copy number detection by whole-genome BAC and oligonucleotide array CGH by Nicholas J. Neill, Beth S. Torchia, Bassem A. Bejjani, Lisa G. Shaffer, Blake C. Ballif

    Published 2010
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  12. 12
    Estimates of penetrance for recurrent pathogenic copy-number variations

    Estimates of penetrance for recurrent pathogenic copy-number variations by Jill A. Rosenfeld, Bradley P. Coe, Evan E. Eichler, Howard Cuckle, Lisa G. Shaffer

    Published 2012
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  13. 13
    The clinical utility of microarray technologies applied to prenatal cytogenetics in the presence of a normal conventional karyotype: a review of the literature

    The clinical utility of microarray technologies applied to prenatal cytogenetics in the presence of a normal conventional karyotype: a review of the literature by Jonathan L A Callaway, Lisa G. Shaffer, Lyn S. Chitty, Jill A. Rosenfeld, John A. Crolla

    Published 2013
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  14. 14
    Haploinsufficiency of ALX4 as a Potential Cause of Parietal Foramina in the 11p11.2 Contiguous Gene–Deletion Syndrome

    Haploinsufficiency of ALX4 as a Potential Cause of Parietal Foramina in the 11p11.2 Contiguous Gene–Deletion Syndrome by Yuanqing Wu, José L. Badano, Christopher McCaskill, Hannes Vogel, Lorraine Potocki, Lisa G. Shaffer

    Published 2000
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  15. 15
    The identification of microdeletion syndromes and other chromosome abnormalities: Cytogenetic methods of the past, new technologies for the future

    The identification of microdeletion syndromes and other chromosome abnormalities: Cytogenetic methods of the past, new technologies for the future by Lisa G. Shaffer, Bassem A. Bejjani, Beth S. Torchia, Susan J. Kirkpatrick, Justine Coppinger, Blake C. Ballif

    Published 2007
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  16. 16
    American College of Medical Genetics Statement on Diagnostic Testing for Uniparental Disomy

    American College of Medical Genetics Statement on Diagnostic Testing for Uniparental Disomy by Lisa G. Shaffer, Noelle Agan, Judith D. Goldberg, David H. Ledbetter, John Longshore, Suzanne B. Cassidy

    Published 2001
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  17. 17
    Microdeletion of 6q16.1 encompassing EPHA7 in a child with mild neurological abnormalities and dysmorphic features: case report

    Microdeletion of 6q16.1 encompassing EPHA7 in a child with mild neurological abnormalities and dysmorphic features: case report by Ryan N. Traylor, Zheng Fan, Beth Hudson, Jill A. Rosenfeld, Lisa G. Shaffer, Beth S. Torchia, Blake C. Ballif

    Published 2009
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  18. 18
    Speech delays and behavioral problems are the predominant features in individuals with developmental delays and 16p11.2 microdeletions and microduplications

    Speech delays and behavioral problems are the predominant features in individuals with developmental delays and 16p11.2 microdeletions and microduplications by Jill A. Rosenfeld, Justine Coppinger, Bassem A. Bejjani, Santhosh Girirajan, Evan E. Eichler, Lisa G. Shaffer, Blake C. Ballif

    Published 2009
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  19. 19
    Microarray analysis for constitutional cytogenetic abnormalities

    Microarray analysis for constitutional cytogenetic abnormalities by Lisa G. Shaffer, Arthur L. Beaudet, Arthur R. Brothman, Betsy Hirsch, Brynn Levy, Alastair J. Martin, James T. Mascarello, Kathleen W. Rao

    Published 2007
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  20. 20
    Use of array comparative genomic hybridization for prenatal diagnosis of fetuses with sonographic anomalies and normal metaphase karyotype

    Use of array comparative genomic hybridization for prenatal diagnosis of fetuses with sonographic anomalies and normal metaphase karyotype by Linda Kleeman, Diana W. Bianchi, Lisa G. Shaffer, Emily A. Rorem, Janet M. Cowan, Sabrina Craigo, Hocine Tighiouart, Louise Wilkins‐Haug

    Published 2009
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