Search Results - Carvalho, Claudia M.B.

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  1. 1
    Copy number variation at the breakpoint region of isochromosome 17q

    Copy number variation at the breakpoint region of isochromosome 17q by Carvalho, Claudia M.B., Lupski, James R.

    Published 2008
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  2. 2
    Mechanisms underlying structural variant formation in genomic disorders

    Mechanisms underlying structural variant formation in genomic disorders by Carvalho, Claudia M. B., Lupski, James R.

    Published 2016
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  3. 3
    Genomic disorders: A window into human gene and genome evolution

    Genomic disorders: A window into human gene and genome evolution by Carvalho, Claudia M. B., Zhang, Feng, Lupski, James R.

    Published 2010
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  4. 4
    Structural variation of the human genome: mechanisms, assays, and role in male infertility

    Structural variation of the human genome: mechanisms, assays, and role in male infertility by Carvalho, Claudia M.B., Zhang, Feng, Lupski, James R.

    Published 2011
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  5. 5
    Complex human chromosomal and genomic rearrangements

    Complex human chromosomal and genomic rearrangements by Zhang, Feng, Carvalho, Claudia M.B., Lupski, James R.

    Published 2009
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  6. 6
    Mechanisms for recurrent and complex human genomic rearrangements

    Mechanisms for recurrent and complex human genomic rearrangements by Liu, Pengfei, Carvalho, Claudia M.B., Hastings, P. J., Lupski, James R.

    Published 2012
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  7. 7
    Clinical genomics and contextualizing genome variation in the diagnostic laboratory.

    Clinical genomics and contextualizing genome variation in the diagnostic laboratory. by Lupski, James R., Liu, Pengfei, Stankiewicz, Pawel, Carvalho, Claudia M. B., Posey, Jennifer E.

    Published 2020
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  8. 8
    Evidence for disease penetrance relating to CNV size: Pelizaeus-Merzbacher disease and manifesting carriers with a familial 11 Mb duplication at Xq22

    Evidence for disease penetrance relating to CNV size: Pelizaeus-Merzbacher disease and manifesting carriers with a familial 11 Mb duplication at Xq22 by Carvalho, Claudia M. B., Bartnik, Magdalena, Pehlivan, Davut, Fang, Ping, Shen, Joseph, Lupski, James R.

    Published 2011
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  9. 9
    Chimeric transcripts resulting from complex duplications in chromosome Xq28

    Chimeric transcripts resulting from complex duplications in chromosome Xq28 by Zuccherato, Luciana W., Alleva, Benjamin, Whiters, Marjorie A., Carvalho, Claudia M. B., Lupski, James R.

    Published 2015
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  10. 10
    Inverted Low-Copy Repeats and Genome Instability—A Genome-Wide Analysis

    Inverted Low-Copy Repeats and Genome Instability—A Genome-Wide Analysis by Dittwald, Piotr, Gambin, Tomasz, Gonzaga-Jauregui, Claudia, Carvalho, Claudia M.B., Lupski, James R., Stankiewicz, Paweł, Gambin, Anna

    Published 2012
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  11. 11
    Alu-specific microhomology-mediated deletion of the final exon of SPAST in three unrelated subjects with hereditary spastic paraplegia

    Alu-specific microhomology-mediated deletion of the final exon of SPAST in three unrelated subjects with hereditary spastic paraplegia by Boone, Philip M., Liu, Pengfei, Zhang, Feng, Carvalho, Claudia M. B., Towne, Charles F., Batish, Sat Dev, Lupski, James R.

    Published 2011
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  12. 12
    Clinical and Genetic Characterization of Upper Extremity Anomalies in Robinow Syndrome

    Clinical and Genetic Characterization of Upper Extremity Anomalies in Robinow Syndrome by Trost, Jeffrey, Abu-Ghname, Amjed, Davis, Matthew J., Cen, Nicholas, Guillen, Diana M., Sutton, Vernon Reid, Carvalho, Claudia M.B., Maricevich, Renata

    Published 2020
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  13. 13
    High frequency of GJA12/GJC2 mutations in Turkish patients with Pelizaeus-Merzbacher disease

    High frequency of GJA12/GJC2 mutations in Turkish patients with Pelizaeus-Merzbacher disease by Bilir, Birdal, Yapici, Zuhal, Yalcinkaya, Cengiz, Baris, Ibrahim, Carvalho, Claudia M. B., Bartnik, Magdalena, Ozes, Burcak, Eraksoy, Mefkure, Lupski, James R., Battaloglu, Esra

    Published 2012
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  14. 14
    Comprehensive structural variation genome map of individuals carrying complex chromosomal rearrangements

    Comprehensive structural variation genome map of individuals carrying complex chromosomal rearrangements by Eisfeldt, Jesper, Pettersson, Maria, Vezzi, Francesco, Wincent, Josephine, Käller, Max, Gruselius, Joel, Nilsson, Daniel, Syk Lundberg, Elisabeth, Carvalho, Claudia M. B., Lindstrand, Anna

    Published 2019
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  15. 15
    Replicative mechanisms for CNV formation are error prone

    Replicative mechanisms for CNV formation are error prone by Carvalho, Claudia M. B., Pehlivan, Davut, Ramocki, Melissa B., Fang, Ping, Alleva, Benjamin, Franco, Luis M., Belmont, John W., Hastings, P. J., Lupski, James R.

    Published 2013
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  16. 16
    NIPBL rearrangements in Cornelia de Lange syndrome: evidence for replicative mechanism and genotype–phenotype correlation

    NIPBL rearrangements in Cornelia de Lange syndrome: evidence for replicative mechanism and genotype–phenotype correlation by Pehlivan, Davut, Hullings, Melanie, Carvalho, Claudia M.B., Gonzaga-Jauregui, Claudia G., Loy, Elizabeth, Jackson, Laird G., Krantz, Ian D., Deardorff, Matthew A., Lupski, James R.

    Published 2012
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  17. 17
    Microhomology-Mediated Mechanisms Underlie Non-Recurrent Disease-Causing Microdeletions of the FOXL2 Gene or Its Regulatory Domain

    Microhomology-Mediated Mechanisms Underlie Non-Recurrent Disease-Causing Microdeletions of the FOXL2 Gene or Its Regulatory Domain by Verdin, Hannah, D'haene, Barbara, Beysen, Diane, Novikova, Yana, Menten, Björn, Sante, Tom, Lapunzina, Pablo, Nevado, Julian, Carvalho, Claudia M. B., Lupski, James R., De Baere, Elfride

    Published 2013
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  18. 18
    Chromoanagenesis Event Underlies a de novo Pericentric and Multiple Paracentric Inversions in a Single Chromosome Causing Coffin–Siris Syndrome

    Chromoanagenesis Event Underlies a de novo Pericentric and Multiple Paracentric Inversions in a Single Chromosome Causing Coffin–Siris Syndrome by Grochowski, Christopher M., Krepischi, Ana C. V., Eisfeldt, Jesper, Du, Haowei, Bertola, Debora R., Oliveira, Danyllo, Costa, Silvia S., Lupski, James R., Lindstrand, Anna, Carvalho, Claudia M. B.

    Published 2021
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  19. 19
    Xq26.3 Duplication in a Boy With Motor Delay and Low Muscle Tone Refines the X-Linked Acrogigantism Genetic Locus

    Xq26.3 Duplication in a Boy With Motor Delay and Low Muscle Tone Refines the X-Linked Acrogigantism Genetic Locus by Trivellin, Giampaolo, Sharwood, Erin, Hijazi, Hadia, Carvalho, Claudia M B, Yuan, Bo, Tatton-Brown, Katrina, Coman, David, Lupski, James R, Cotterill, Andrew M, Lodish, Maya B, Stratakis, Constantine A

    Published 2018
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  20. 20
    Autism and other Neuropsychiatric Symptoms are Prevalent in Individuals with MECP2 Duplication Syndrome

    Autism and other Neuropsychiatric Symptoms are Prevalent in Individuals with MECP2 Duplication Syndrome by Ramocki, Melissa B., Peters, Sarika U., Tavyev, Y. Jane, Zhang, Feng, Carvalho, Claudia M. B., Schaaf, Christian P., Fang, Ronald Richman, Ping, Glaze, Daniel G., Lupski, James R., Zoghbi, Huda Y.

    Published 2009
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