检索结果 - Amy M. Breman

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  1. 1
    OEIS complex associated with chromosome 1p36 deletion: A case report and review

    OEIS complex associated with chromosome 1p36 deletion: A case report and review 由 Ayman W. El‐Hattab, Josh Skorupski, Michael H. Hsieh, Amy M. Breman, Ankita Patel, Sau Wai Cheung, William J. Craigen

    出版 2010
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  2. 2
    Predicting human genes susceptible to genomic instability associated with <i>Alu</i>/<i>Alu</i>-mediated rearrangements

    Predicting human genes susceptible to genomic instability associated with <i>Alu</i>/<i>Alu</i>-mediated rearrangements 由 Xiaofei Song, Christine R. Beck, Renqian Du, Ian M. Campbell, Zeynep Coban‐Akdemir, Shen Gu, Amy M. Breman, Paweł Stankiewicz, Grzegorz Ira, Chad A. Shaw, James R. Lupski

    出版 2018
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  3. 3
    Chromosome 8p23.1 deletions as a cause of complex congenital heart defects and diaphragmatic hernia

    Chromosome 8p23.1 deletions as a cause of complex congenital heart defects and diaphragmatic hernia 由 Margaret Wat, Oleg A. Shchelochkov, Ashley M. Holder, Amy M. Breman, Aditi I Dagli, Carlos A. Bacino, Fernando Scaglia, Roberto T. Zori, Sau Wai Cheung, Daryl A. Scott, Sung‐Hae Kang

    出版 2009
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  4. 4
    SHANK3 overexpression causes manic-like behaviour with unique pharmacogenetic properties

    SHANK3 overexpression causes manic-like behaviour with unique pharmacogenetic properties 由 Kihoon Han, J. Lloyd Holder, Christian P. Schaaf, Hui Lü, Hongmei Chen, Hyojin Kang, Jianrong Tang, Zhenyu Wu, Shuang Hao, Sau Wai Cheung, Peng Yu, Hao Sun, Amy M. Breman, Ankita Patel, Hui‐Chen Lu, Huda Y. Zoghbi

    出版 2013
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  5. 5
    High-recovery visual identification and single-cell retrieval of circulating tumor cells for genomic analysis using a dual-technology platform integrated with automated immunofluorescence staining

    High-recovery visual identification and single-cell retrieval of circulating tumor cells for genomic analysis using a dual-technology platform integrated with automated immunofluor... 由 Daniel Campton, Arturo B. Ramirez, Joshua J. Nordberg, Nick Drovetto, Alisa Clein, Paulina Varshavskaya, Barry H Friemel, Steve Quarre, Amy M. Breman, Michael O. Dorschner, Sibel Blau, C. Anthony Blau, Daniel E. Sabath, Jackie L. Stilwell, Eric Kaldjian

    出版 2015
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  6. 6
    Cytogenetically visible inversions are formed by multiple molecular mechanisms

    Cytogenetically visible inversions are formed by multiple molecular mechanisms 由 Maria Pettersson, Christopher M. Grochowski, Josephine Wincent, Jesper Eisfeldt, Amy M. Breman, Sau Wai Cheung, Ana Cristina Victorino Krepischi, Carla Rosenberg, James R. Lupski, Jesper Ottosson, Lovisa Lovmar, Jelena Gacic, Elisabeth Syk Lundberg, Daniel Nilsson, Claudia M.B. Carvalho, Anna Lindstrand

    出版 2020
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  7. 7
    Mechanisms for Complex Chromosomal Insertions

    Mechanisms for Complex Chromosomal Insertions 由 Shen Gu, Przemysław Szafrański, Zeynep Coban‐Akdemir, Bo Yuan, M. Lance Cooper, Maria A. Magriñá, Carlos A. Bacino, Seema R. Lalani, Amy M. Breman, Janice Smith, Ankita Patel, Rodger Song, Weimin Bi, Sau Wai Cheung, Claudia M.B. Carvalho, Paweł Stankiewicz, James R. Lupski

    出版 2016
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  8. 8
    Validation Studies for Single Circulating Trophoblast Genetic Testing as a Form of Noninvasive Prenatal Diagnosis

    Validation Studies for Single Circulating Trophoblast Genetic Testing as a Form of Noninvasive Prenatal Diagnosis 由 Liesbeth Vossaert, Qun Wang, Roseen Salman, Anne K. McCombs, Vipulkumar Patel, Chunjing Qu, Michael A. Mancini, Dean P. Edwards, Anna Malovannaya, Pengfei Liu, Chad A. Shaw, Brynn Levy, Ronald J. Wapner, Weimin Bi, Amy M. Breman, Ignatia B. Van den Veyver, Arthur L. Beaudet

    出版 2019
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  9. 9
    Reliable detection of subchromosomal deletions and duplications using cell‐based noninvasive prenatal testing

    Reliable detection of subchromosomal deletions and duplications using cell‐based noninvasive prenatal testing 由 Liesbeth Vossaert, Qun Wang, Roseen Salman, Xinming Zhuo, Chunjing Qu, David Henke, Ron Seubert, Jennifer Chow, Lance U’Ren, Brennan Enright, Jackie L. Stilwell, Eric Kaldjian, Yaping Yang, Chad A. Shaw, Brynn Levy, Ronald J. Wapner, Amy M. Breman, Ignatia Van den Veyver, Arthur L. Beaudet

    出版 2018
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  10. 10
    Evidence for feasibility of fetal trophoblastic cell‐based noninvasive prenatal testing

    Evidence for feasibility of fetal trophoblastic cell‐based noninvasive prenatal testing 由 Amy M. Breman, Jennifer Chow, Lance U’Ren, Elizabeth A. Normand, Sadeem Qdaisat, Li Zhao, David Henke, Rui Chen, Chad A. Shaw, Laird Jackson, Yaping Yang, Liesbeth Vossaert, Rachel H. V. Needham, Elizabeth Chang, Daniel Campton, Jeffrey L. Werbin, Ron Seubert, Ignatia B. Van den Veyver, Jackie L. Stilwell, Eric Kaldjian, Arthur L. Beaudet

    出版 2016
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  11. 11
    Observation and prediction of recurrent human translocations mediated by NAHR between nonhomologous chromosomes

    Observation and prediction of recurrent human translocations mediated by NAHR between nonhomologous chromosomes 由 Zhishuo Ou, Paweł Stankiewicz, Zhilian Xia, Amy M. Breman, Brian Dawson, Joanna Wiszniewska, Przemysław Szafrański, M. Lance Cooper, Mitchell Rao, Lina Shao, Sarah T. South, Karlene Coleman, Paul M. Fernhoff, Marcel J. Deray, Sally Rosengren, Elizabeth Roeder, Victoria B. Enciso, A. Craig Chinault, Ankita Patel, Sung-Hae L. Kang, Chad A. Shaw, James R. Lupski, Sau Wai Cheung

    出版 2011
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  12. 12
    NAHR-mediated copy-number variants in a clinical population: Mechanistic insights into both genomic disorders and Mendelizing traits

    NAHR-mediated copy-number variants in a clinical population: Mechanistic insights into both genomic disorders and Mendelizing traits 由 Piotr Dittwald, Tomasz Gambin, Przemysław Szafrański, Jian Li, Stephen Amato, Michael Y. Divon, Lisa Rojas, Lindsay Elton, Daryl A. Scott, Christian P. Schaaf, Wilfredo Torres‐Martinez, Abby Stevens, Jill A. Rosenfeld, Satish Agadi, David Francis, Sung-Hae L. Kang, Amy M. Breman, Seema R. Lalani, Carlos A. Bacino, Weimin Bi, Aleksandar Milosavljevic, Arthur L. Beaudet, Ankita Patel, Chad A. Shaw, James R. Lupski, Anna Gambin, Sau Wai Cheung, Paweł Stankiewicz

    出版 2013
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  13. 13
    CNVs cause autosomal recessive genetic diseases with or without involvement of SNV/indels

    CNVs cause autosomal recessive genetic diseases with or without involvement of SNV/indels 由 Bo Yuan, Lei Wang, Pengfei Liu, Chad A. Shaw, Hongzheng Dai, Lance Cooper, Wenmiao Zhu, Stephanie A. Anderson, Linyan Meng, Xia Wang, Yue Wang, Fan Xia, Rui Xiao, Alicia Braxton, Sandra Peacock, Eric Schmitt, Patricia A. Ward, Francesco Vetrini, Weimin He, Theodore Chiang, Donna M. Muzny, Richard A. Gibbs, Arthur L. Beaudet, Amy M. Breman, Janice Smith, Sau Wai Cheung, Carlos A. Bacino, Christine M. Eng, Yaping Yang, James R. Lupski, Weimin Bi

    出版 2020
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  14. 14
    An Organismal CNV Mutator Phenotype Restricted to Early Human Development

    An Organismal CNV Mutator Phenotype Restricted to Early Human Development 由 Pengfei Liu, Bo Yuan, Claudia M.B. Carvalho, Arthur Wüster, Klaudia Walter, Ling Zhang, Tomasz Gambin, Zechen Chong, Ian M. Campbell, Zeynep Coban‐Akdemir, Violet Gelowani, Karin Writzl, Carlos A. Bacino, Sarah Lindsay, Marjorie Withers, Claudia Gonzaga‐Jauregui, Joanna Wiszniewska, Jennifer Scull, Paweł Stankiewicz, Shalini N. Jhangiani, Donna M. Muzny, Feng Zhang, Ken Chen, Richard A. Gibbs, Bernd Rautenstrauß, Sau Wai Cheung, Janice Smith, Amy M. Breman, Chad A. Shaw, Ankita Patel, Matthew E. Hurles, James R. Lupski

    出版 2017
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    Carta
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  15. 15
    Copy number variant and runs of homozygosity detection by microarrays enabled more precise molecular diagnoses in 11,020 clinical exome cases

    Copy number variant and runs of homozygosity detection by microarrays enabled more precise molecular diagnoses in 11,020 clinical exome cases 由 Avinash V. Dharmadhikari, Rajarshi Ghosh, Bo Yuan, Pengfei Liu, Hongzheng Dai, Sami Al Masri, Jennifer Scull, Jennifer E. Posey, Allen H. Jiang, Weimin He, Francesco Vetrini, Alicia Braxton, Patricia A. Ward, Theodore Chiang, Chunjing Qu, Shen Gu, Chad A. Shaw, Janice Smith, Seema R. Lalani, Paweł Stankiewicz, Sau Wai Cheung, Carlos A. Bacino, Ankita Patel, Amy M. Breman, Xia Wang, Linyan Meng, Rui Xiao, Fan Xia, Donna M. Muzny, Richard A. Gibbs, Arthur L. Beaudet, Christine M. Eng, James R. Lupski, Yaping Yang, Weimin Bi

    出版 2019
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  16. 16
    Haploinsufficiency of the Chromatin Remodeler BPTF Causes Syndromic Developmental and Speech Delay, Postnatal Microcephaly, and Dysmorphic Features

    Haploinsufficiency of the Chromatin Remodeler BPTF Causes Syndromic Developmental and Speech Delay, Postnatal Microcephaly, and Dysmorphic Features 由 Paweł Stankiewicz, Tahir Naeem Khan, Przemysław Szafrański, Leah Slattery, Haley Streff, Francesco Vetrini, Jonathan A. Bernstein, Chester Brown, Jill A. Rosenfeld, Surya P. Rednam, Sarah Scollon, Katie Bergstrom, D. Williams Parsons, Sharon E. Plon, Marta Wey Vieira, Caio Robledo D’Angioli Costa Quaio, Wagner Antonio da Rosa Baratela, Johanna Acosta, Ruth Armstrong, Sarju Mehta, Patrick Rump, Rolph Pfundt, Raymond Lewandowski, Erica M. Fernandes, Deepali N. Shinde, Sha Tang, Juliane Hoyer, Christiane Zweier, André Reis, Carlos A. Bacino, Rui Xiao, Amy M. Breman, Janice Smith, Nicholas Katsanis, Bret L. Bostwick, Bernt Popp, Erica E. Davis, Yaping Yang

    出版 2017
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  17. 17
    A Mild PUM1 Mutation Is Associated with Adult-Onset Ataxia, whereas Haploinsufficiency Causes Developmental Delay and Seizures

    A Mild PUM1 Mutation Is Associated with Adult-Onset Ataxia, whereas Haploinsufficiency Causes Developmental Delay and Seizures 由 Vincenzo A. Gennarino, Elizabeth E. Palmer, Laura M. McDonell, Li Wang, Carolyn J. Adamski, Amanda Koire, Lauren See, Chun‐An Chen, Christian P. Schaaf, Jill A. Rosenfeld, Jessica A. Panzer, Ute Moog, Shuang Hao, Ann Bye, Edwin P. Kirk, Paweł Stankiewicz, Amy M. Breman, Arran McBride, Tejaswi Kandula, Holly Dubbs, Rebecca Macintosh, Michael Cardamone, Ying Zhu, Kevin Ying, Kerith‐Rae Dias, Megan T. Cho, Lindsay B. Henderson, Berivan Baskin, Paula Morris, Tao Jiang, Mark J. Cowley, Marcel E. Dinger, Tony Roscioli, Oana Caluseriu, Oksana Suchowersky, Rani Sachdev, Olivier Lichtarge, Jianrong Tang, Kym M. Boycott, J. Lloyd Holder, Huda Y. Zoghbi

    出版 2018
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  18. 18
    Clinical exome sequencing reveals locus heterogeneity and phenotypic variability of cohesinopathies

    Clinical exome sequencing reveals locus heterogeneity and phenotypic variability of cohesinopathies 由 Bo Yuan, Juanita Neira, Davut Pehli̇van, Teresa Santiago‐Sim, Xiaofei Song, Jill A. Rosenfeld, Jennifer E. Posey, Vipulkumar Patel, Weihong Jin, Margaret P Adam, Emma L. Baple, John Dean, Chin‐To Fong, Scott E. Hickey, Louanne Hudgins, Eyby Leon, Suneeta Madan‐Khetarpal, Lettie E. Rawlins, Cecilie F. Rustad, Asbjørg Stray‐Pedersen, Kristian Tveten, Olivia Wenger, Jullianne Diaz, Laura Jenkins, Laura Martin, Marianne McGuire, Marguerite Pietryga, Linda Ramsdell, Leah Slattery, Farida Abid, Alison A. Bertuch, Dorothy K. Grange, LaDonna Immken, Christian P. Schaaf, Hilde Van Esch, Weimin Bi, Sau Wai Cheung, Amy M. Breman, Janice Smith, Chad A. Shaw, Andrew H. Crosby, Christine M. Eng, Yaping Yang, James R. Lupski, Rui Xiao, Pengfei Liu

    出版 2018
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  19. 19
    Identification of novel candidate disease genes from de novo exonic copy number variants

    Identification of novel candidate disease genes from de novo exonic copy number variants 由 Tomasz Gambin, Bo Yuan, Weimin Bi, Pengfei Liu, Jill A. Rosenfeld, Zeynep Coban‐Akdemir, Amber N. Pursley, Sandesh C.S. Nagamani, Ronit Marom, Sailaja Golla, Lauren Dengle, Heather G. Petrie, Reuben Matalon, Lisa Emrick, Monica B. Proud, Diane Treadwell‐Deering, Hsiao-Tuan Chao, Hannele Koillinen, Chester Brown, Nora Urraca, Roya Mostafavi, Saunder Bernes, Elizabeth Roeder, Kimberly Nugent, Patricia I. Bader, Gary A. Bellus, Michael A. Cummings, Hope Northrup, Myla Ashfaq, Rachel Westman, Robert S. Wildin, Anita Beck, LaDonna Immken, Lindsay Elton, Shaun Varghese, Edward P. Buchanan, Laurence Faivre, Mathilde Lefebvre, Christian P. Schaaf, Magdalena Walkiewicz, Yaping Yang, Sung-Hae L. Kang, Seema R. Lalani, Carlos A. Bacino, Arthur L. Beaudet, Amy M. Breman, Janice Smith, Sau Wai Cheung, James R. Lupski, Ankita Patel, Chad A. Shaw, Paweł Stankiewicz

    出版 2017
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