Resultats de la cerca - Nicholas J. Neill

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  1. 1
    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 per Nicholas J. Neill, Beth S. Torchia, Bassem A. Bejjani, Lisa G. Shaffer, Blake C. Ballif

    Publicat 2010
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  2. 2
    Diagnostic utility of microarray testing in pregnancy loss

    Diagnostic utility of microarray testing in pregnancy loss per Jill A. Rosenfeld, MIRIAM E. TUCKER, Luis Escobar, Nicholas J. Neill, Beth S. Torchia, L. D. McDaniel, Ronald Schultz, Karen Chong, David Chitayat

    Publicat 2015
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  3. 3
    Recurrence, submicroscopic complexity, and potential clinical relevance of copy gains detected by array CGH that are shown to be unbalanced insertions by FISH

    Recurrence, submicroscopic complexity, and potential clinical relevance of copy gains detected by array CGH that are shown to be unbalanced insertions by FISH per Nicholas J. Neill, Blake C. Ballif, Allen N. Lamb, Sumit Parikh, J. Britt Ravnan, Roger A. Schultz, Beth S. Torchia, Jill A. Rosenfeld, Lisa G. Shaffer

    Publicat 2011
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  4. 4
    Bio-primed machine learning to enhance discovery of relevant biomarkers

    Bio-primed machine learning to enhance discovery of relevant biomarkers per David Henke, Alexander Renwick, Joseph R. Zoeller, Jitendra K. Meena, Nicholas J. Neill, Elizabeth A. Bowling, Kristen L. Meerbrey, Thomas F. Westbrook, Lukas M. Simon

    Publicat 2025
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  5. 5
    Copy number variants of schizophrenia susceptibility loci are associated with a spectrum of speech and developmental delays and behavior problems

    Copy number variants of schizophrenia susceptibility loci are associated with a spectrum of speech and developmental delays and behavior problems per Trilochan Sahoo, Aaron Theisen, Jill A. Rosenfeld, Allen N. Lamb, J. Britt Ravnan, Roger A. Schultz, Beth S. Torchia, Nicholas J. Neill, Ian Casci, Bassem A. Bejjani, Lisa G. Shaffer

    Publicat 2011
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  6. 6
    Inhibition of YTHDF2 triggers proteotoxic cell death in MYC-driven breast cancer

    Inhibition of YTHDF2 triggers proteotoxic cell death in MYC-driven breast cancer per Jaclyn M. Einstein, Mark Perelis, Isaac A. Chaim, Jitendra K. Meena, Julia K. Nussbacher, Alexandra Tankka, Brian A. Yee, Heyuan Li, Assael A. Madrigal, Nicholas J. Neill, Archana Shankar, Siddhartha Tyagi, Thomas F. Westbrook, G Yeo

    Publicat 2021
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  7. 7
    The spliceosome is a therapeutic vulnerability in MYC-driven cancer

    The spliceosome is a therapeutic vulnerability in MYC-driven cancer per Tiffany Hsu, Lukas M. Simon, Nicholas J. Neill, Richard Marcotte, Azin Sayad, Christopher S. Bland, Gloria V. Echeverria, Tingting Sun, Sarah J. Kurley, Siddhartha Tyagi, Kristen L. Karlin, Rocío Domínguez-Vidaña, Jessica K. Hartman, Alexander Renwick, Kathleen A. Scorsone, Ronald J. Bernardi, Samuel O. Skinner, Antrix Jain, Mayra Orellana, Chandraiah Lagisetti, Ido Golding, Sung Yun Jung, Joel R. Neilson, Xiang H.-F. Zhang, Thomas A. Cooper, Thomas R. Webb, Benjamin G. Neel, Chad A. Shaw, Thomas F. Westbrook

    Publicat 2015
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  8. 8
    Investigation of<i>NRXN1</i>deletions: Clinical and molecular characterization

    Investigation of<i>NRXN1</i>deletions: Clinical and molecular characterization per Mindy Preston Dabell, Jill A. Rosenfeld, Patricia I. Bader, Luis Escobar, Dima El‐Khechen, Stephanie E. Vallee, Mary Beth Dinulos, Cynthia J. Curry, Jamie Fisher, Raymond C. Tervo, Mark C. Hannibal, Kiana Siefkas, Philip Wyatt, Lauren S. Hughes, Rosemarie Smith, Sara Ellingwood, Yves Lacassie, Tracy Stroud, Sandra A. Farrell, Pedro A. Sanchez‐Lara, Linda M. Randolph, Dmitriy Niyazov, Cathy A. Stevens, Cheri Schoonveld, David Skidmore, Sara MacKay, Judith H. Miles, Manikum Moodley, Adam Huillet, Nicholas J. Neill, Jay W. Ellison, Blake C. Ballif, Lisa G. Shaffer

    Publicat 2013
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  9. 9
    Spliceosome-targeted therapies trigger an antiviral immune response in triple-negative breast cancer

    Spliceosome-targeted therapies trigger an antiviral immune response in triple-negative breast cancer per Elizabeth A. Bowling, Jarey H. Wang, Fade Gong, William Wu, Nicholas J. Neill, Ik Sun Kim, Siddhartha Tyagi, Mayra Orellana, Sarah J. Kurley, Rocío Domínguez-Vidaña, Hsiang-Ching Chung, Tiffany Hsu, Julien Dubrulle, Alexander B. Saltzman, Heyuan Li, Jitendra K. Meena, Gino Martin Canlas, Srinivas Chamakuri, Swarnima Singh, Lukas M. Simon, Calla M. Olson, Lacey E. Dobrolecki, Michael T. Lewis, Bing Zhang, Ido Golding, Jeffrey M. Rosen, Damian W. Young, Anna Malovannaya, Fabio Stossi, George Miles, Matthew J. Ellis, Lihua Yu, Silvia Buonamici, Charles Y. Lin, Kristen L. Karlin, Xiang H.-F. Zhang, Thomas F. Westbrook

    Publicat 2021
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  10. 10
    Haploinsufficiency of<i>SOX5</i>at 12p12.1 is associated with developmental delays with prominent language delay, behavior problems, and mild dysmorphic features

    Haploinsufficiency of<i>SOX5</i>at 12p12.1 is associated with developmental delays with prominent language delay, behavior problems, and mild dysmorphic features per Allen N. Lamb, Jill A. Rosenfeld, Nicholas J. Neill, Michael E. Talkowski, Ian Blumenthal, Santhosh Girirajan, Debra Keelean-Fuller, Zheng Fan, Jill Pouncey, Cathy A. Stevens, Loren Mackay-Loder, Deborah Terespolsky, Patricia I. Bader, Kenneth N. Rosenbaum, Stephanie E. Vallee, John B. Moeschler, Roger L. Ladda, Susan L. Sell, Judith A. Martin, S. Noyce Ryan, Marilyn C. Jones, Rocio Moran, Amy Shealy, Suneeta Madan‐Khetarpal, Juliann McConnell, Urvashi Surti, Andrée Delahaye‐Duriez, Bénédicte Héron‐Longe, Eva Pipiras, Brigitte Benzacken, Sandrine Passemard, Alain Verloès, Bertrand Isidor, Cédric Le Caignec, Gwen M. Glew, Kent E. Opheim, Maria Descartes, Evan E. Eichler, Cynthia C. Morton, James F. Gusella, Roger A. Schultz, Blake C. Ballif, Lisa G. Shaffer

    Publicat 2012
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  11. 11
    Exonic Deletions in AUTS2 Cause a Syndromic Form of Intellectual Disability and Suggest a Critical Role for the C Terminus

    Exonic Deletions in AUTS2 Cause a Syndromic Form of Intellectual Disability and Suggest a Critical Role for the C Terminus per Gea Beunders, Els Voorhoeve, Christelle Golzio, Luba M. Pardo, Jill A. Rosenfeld, Michael E. Talkowski, Ingrid Simonic, Anath C. Lionel, Sarah Vergult, Robert E. Pyatt, Jiddeke van de Kamp, Aggie Nieuwint, Marjan M. Weiss, Patrizia Rizzu, Lucilla E.N.I. Verwer, Rosalina M.L. van Spaendonk, Yiping Shen, Bai-Lin Wu, Tingting Yu, Yongguo Yu, Colby Chiang, James F. Gusella, Amelia M. Lindgren, Cynthia C. Morton, Ellen van Binsbergen, Saskia Bulk, Els van Rossem, Olivier Vanakker, Ruth Armstrong, Soo-Mi Park, Lynn Greenhalgh, Una Maye, Nicholas J. Neill, Kristin M. Abbott, Susan L. Sell, Roger L. Ladda, Darren Farber, Patricia I. Bader, Tom Cushing, Joanne M. Drautz, Laura Konczal, Patricia Nash, Emily de los Reyes, Melissa T. Carter, Elizabeth Hopkins, Christian R. Marshall, Lucy R. Osborne, Karen W. Gripp, Devon Lamb Thrush, Sayaka Hashimoto, Julie M. Gastier‐Foster, Caroline Astbury, Bauke Ylstra, Hanne Meijers‐Heijboer, Daniëlle Posthuma, Björn Menten, Geert Mortier, Stephen W. Scherer, Evan E. Eichler, Santhosh Girirajan, Nicholas Katsanis, Alexander J. Groffen, Erik A. Sistermans

    Publicat 2013
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