תוצאות חיפוש - Holly A.F. Stessman

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  1. 1
    A Genotype-First Approach to Defining the Subtypes of a Complex Disease

    A Genotype-First Approach to Defining the Subtypes of a Complex Disease מאת Holly A.F. Stessman, Raphael Bernier, Evan E. Eichler

    יצא לאור 2014
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    Artigo
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  2. 2
    GluN2D Subunit in Parvalbumin Interneurons Regulates Prefrontal Cortex Feedforward Inhibitory Circuit and Molecular Networks Relevant to Schizophrenia

    GluN2D Subunit in Parvalbumin Interneurons Regulates Prefrontal Cortex Feedforward Inhibitory Circuit and Molecular Networks Relevant to Schizophrenia מאת Dinesh Y. Gawande, Kishore Kumar S. Narasimhan, Gajanan P. Shelkar, Ratnamala Pavuluri, Holly A.F. Stessman, Shashank M. Dravid

    יצא לאור 2023
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    Artigo
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  3. 3
    Reduced CXCR4 expression is associated with extramedullary disease in a mouse model of myeloma and predicts poor survival in multiple myeloma patients treated with bortezomib

    Reduced CXCR4 expression is associated with extramedullary disease in a mouse model of myeloma and predicts poor survival in multiple myeloma patients treated with bortezomib מאת Holly A.F. Stessman, Aatif Mansoor, Fenghuang Zhan, Siegfried Janz, Michael A. Linden, Linda B. Baughn, Brian Van Ness

    יצא לאור 2013
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    Carta
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  4. 4
    denovo-db: a compendium of human<i>de novo</i>variants

    denovo-db: a compendium of human<i>de novo</i>variants מאת Tychele N. Turner, Yi Qian, Niklas Krumm, John Huddleston, Kendra Hoekzema, Holly A.F. Stessman, Anna-Lisa Doebley, Raphael Bernier, Deborah A. Nickerson, Evan E. Eichler

    יצא לאור 2016
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    Artigo
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  5. 5
    Neurodevelopmental disease genes implicated by de novo mutation and copy number variation morbidity

    Neurodevelopmental disease genes implicated by de novo mutation and copy number variation morbidity מאת Bradley P. Coe, Holly A.F. Stessman, Arvis Sulovari, Madeleine R. Geisheker, Trygve E. Bakken, Allison M. Lake, Joseph D. Dougherty, Ed S. Lein, Fereydoun Hormozdiari, Raphael Bernier, Evan E. Eichler

    יצא לאור 2018
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    Artigo
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  6. 6
    Excess of rare, inherited truncating mutations in autism

    Excess of rare, inherited truncating mutations in autism מאת Niklas Krumm, Tychele N. Turner, Carl Baker, Laura Vives, Kiana Mohajeri, Kali Witherspoon, Archana N. Raja, Bradley P. Coe, Holly A.F. Stessman, Zong-Xiao He, Suzanne M. Leal, Raphael Bernier, Evan E. Eichler

    יצא לאור 2015
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    Artigo
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  7. 7
    Recurrent de novo mutations implicate novel genes underlying simplex autism risk

    Recurrent de novo mutations implicate novel genes underlying simplex autism risk מאת Brian J. O’Roak, Holly A.F. Stessman, Evan A. Boyle, Kali Witherspoon, Beth Martin, C. Lee, Laura Vives, Carl Baker, Joseph B. Hiatt, D. A. Nickerson, Raphael Bernier, Jay Shendure, Evan E. Eichler

    יצא לאור 2014
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    Artigo
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  8. 8
    Profiling Bortezomib Resistance Identifies Secondary Therapies in a Mouse Myeloma Model

    Profiling Bortezomib Resistance Identifies Secondary Therapies in a Mouse Myeloma Model מאת Holly A.F. Stessman, Linda B. Baughn, Aaron L. Sarver, Tian Xia, Raamesh Deshpande, Aatif Mansoor, Susan A. Walsh, John J. Sunderland, Nathan G. Dolloff, Michael A. Linden, Fenghuang Zhan, Siegfried Janz, Chad L. Myers, Brian G. Van Ness

    יצא לאור 2013
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    Artigo
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  9. 9
    The evolution and population diversity of human-specific segmental duplications

    The evolution and population diversity of human-specific segmental duplications מאת Megan Y. Dennis, Lana Harshman, Bradley J. Nelson, Osnat Penn, Stuart Cantsilieris, John Huddleston, Francesca Antonacci, Kelsi Penewit, Laura Denman, Archana N. Raja, Carl Baker, Kenneth M. K. Mark, Maika Malig, Nicolette Janke, Claudia Y. Espinoza, Holly A.F. Stessman, Xander Nuttle, Kendra Hoekzema, Tina A. Lindsay-Graves, Richard K. Wilson, Evan E. Eichler

    יצא לאור 2017
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    Artigo
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  10. 10
    De novo genic mutations among a Chinese autism spectrum disorder cohort

    De novo genic mutations among a Chinese autism spectrum disorder cohort מאת Tianyun Wang, Hui Guo, Bo Xiong, Holly A.F. Stessman, Huidan Wu, Bradley P. Coe, Tychele N. Turner, Yanling Liu, Wenjing Zhao, Kendra Hoekzema, Laura Vives, Lu Xia, Meina Tang, Jianjun Ou, Biyuan Chen, Yidong Shen, Guanglei Xun, Long Min, Janice Lin, Zev Kronenberg, Yu Peng, Ting Bai, Honghui Li, Xiaoyan Ke, Zhengmao Hu, Jingping Zhao, Xiaobing Zou, Kun Xia, Evan E. Eichler

    יצא לאור 2016
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    Artigo
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  11. 11
    Genome Sequencing of Autism-Affected Families Reveals Disruption of Putative Noncoding Regulatory DNA

    Genome Sequencing of Autism-Affected Families Reveals Disruption of Putative Noncoding Regulatory DNA מאת Tychele N. Turner, Fereydoun Hormozdiari, Michael H. Duyzend, Sarah A. McClymont, Paul W. Hook, Ivan Iossifov, Archana N. Raja, Carl Baker, Kendra Hoekzema, Holly A.F. Stessman, Michael C. Zody, Bradley J. Nelson, John Huddleston, Richard Sandstrom, Joshua D. Smith, D. Hanna, James M. Swanson, Elaine M. Faustman, Michael J. Bamshad, J Stamatoyannopoulos, Deborah A. Nickerson, Andrew S. McCallion, Robert B. Darnell, Evan E. Eichler

    יצא לאור 2015
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    Artigo
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  12. 12
    Phenotypic and biochemical analysis of an international cohort of individuals with variants in NAA10 and NAA15

    Phenotypic and biochemical analysis of an international cohort of individuals with variants in NAA10 and NAA15 מאת Hanyin Cheng, Leah Gottlieb, Elaine Marchi, Robert Kleyner, Puja Bhardwaj, Alan F. Rope, Sarah Rosenheck, Sébastien Moutton, Christophe Philippe, Wafaa Eyaid, Fowzan S. Alkuraya, Janet Toribio, Rafael Mena, Carlos E. Prada, Holly A.F. Stessman, Raphael Bernier, Marieke Wermuth, Brice Kauffmann, Bettina Blaumeiser, R. Frank Kooy, Diana Baralle, Grazia M.S. Mancini, Simon J. Conway, Fan Xia, Chen Zhao, Linyan Meng, Ljubisa Mihajlovic, Ronen Marmorstein, Gholson J. Lyon

    יצא לאור 2019
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    Artigo
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  13. 13
    Emergence of a Homo sapiens-specific gene family and chromosome 16p11.2 CNV susceptibility

    Emergence of a Homo sapiens-specific gene family and chromosome 16p11.2 CNV susceptibility מאת Xander Nuttle, Giuliana Giannuzzi, Michael H. Duyzend, Joshua G. Schraiber, Iñigo Narvaiza, Peter H. Sudmant, Osnat Penn, Giorgia Chiatante, Maika Malig, John Huddleston, Christopher Benner, Francesca Camponeschi, Simone Ciofi‐Baffoni, Holly A.F. Stessman, Maria C. Marchetto, Laura Denman, Lana Harshman, Carl Baker, Archana N. Raja, Kelsi Penewit, Nicolette Janke, Weiliang Tang, Mario Ventura, Lucia Banci, Francesca Antonacci, Joshua M. Akey, Chris T. Amemiya, Fred H. Gage, Alexandre Reymond, Evan E. Eichler

    יצא לאור 2016
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    Artigo
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  14. 14
    <i>ADCY5</i> -related dyskinesia

    <i>ADCY5</i> -related dyskinesia מאת Donghui Chen, Aurélie Méneret, Jennifer Friedman, Olena Korvatska, Alona Gad, Emily Bonkowski, Holly A.F. Stessman, Diane Doummar, Cyril Mignot, Mathieu Anheim, Saunder Bernes, Marie Y. Davis, Nathalie Damon‐Perrière, Bertrand Degos, David Grabli, Domitille Gras, Fuki M. Hisama, Katherine M. Mackenzie, Phillip D. Swanson, Christine Tranchant, Marie Vidailhet, Steven P. Winesett, Oriane Trouillard, Laura M. Amendola, Michael O. Dorschner, Michael D. Weiss, Evan E. Eichler, Ali Torkamani, Emmanuel Roze, Thomas D. Bird, Wendy H. Raskind

    יצא לאור 2015
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    Artigo
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  15. 15
    Disruptive CHD8 Mutations Define a Subtype of Autism Early in Development

    Disruptive CHD8 Mutations Define a Subtype of Autism Early in Development מאת Raphael Bernier, Christelle Golzio, Bo Xiong, Holly A.F. Stessman, Bradley P. Coe, Osnat Penn, Kali Witherspoon, Jennifer Gerdts, Carl Baker, Anneke T. Vulto-van Silfhout, Janneke Schuurs-Hoeijmakers, Marco Fichera, Paolo Bosco, Serafino Buono, A Alberti, Pinella Failla, Hilde Peeters, Jean Steyaert, Lisenka E.L.M. Vissers, Ludmila Francescatto, Heather C. Mefford, Jill A. Rosenfeld, Trygve E. Bakken, Brian J. O’Roak, Matthew Pawlus, Randall T. Moon, Jay Shendure, David G. Amaral, Ed S. Lein, Julia Rankin, Corrado Romano, Bert de Vries, Nicholas Katsanis, Evan E. Eichler

    יצא לאור 2014
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    Artigo
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  16. 16
    Hotspots of missense mutation identify neurodevelopmental disorder genes and functional domains

    Hotspots of missense mutation identify neurodevelopmental disorder genes and functional domains מאת Madeleine R. Geisheker, Gabriel Heymann, Tianyun Wang, Bradley P. Coe, Tychele N. Turner, Holly A.F. Stessman, Kendra Hoekzema, Malin Kvarnung, Marie Shaw, Kathryn Friend, Jan Liebelt, Christopher Barnett, Elizabeth M. Thompson, Eric Haan, Hui Guo, Britt-Marie Anderlid, Ann Nordgren, Anna Lindstrand, Geert Vandeweyer, A Alberti, Emanuela Avola, Mirella Vinci, Stefania Giusto, Tiziano Pramparo, Karen Pierce, Srinivasa Nalabolu, Jacob J. Michaelson, Zdeněk Sedláček, Gijs W.E. Santen, Hilde Peeters, Hákon Hákonarson, Eric Courchesne, Corrado Romano, R. Frank Kooy, Raphael Bernier, Magnus Nordenskjöld, Jozef Gécz, Kun Xia, Larry S. Zweifel, Evan E. Eichler

    יצא לאור 2017
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    Artigo
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  17. 17
    The contribution of de novo coding mutations to autism spectrum disorder

    The contribution of de novo coding mutations to autism spectrum disorder מאת Ivan Iossifov, Brian J. O’Roak, Stephan Sanders, Michael Ronemus, Niklas Krumm, Dan Levy, Holly A.F. Stessman, Kali Witherspoon, Laura Vives, Karynne Patterson, Joshua D. Smith, Bryan Paeper, Deborah A. Nickerson, Jeanselle Dea, Shan Dong, Luis Eduardo González, Jeffrey D. Mandell, Shrikant Mane, Michael T. Murtha, Catherine Sullivan, Michael F. Walker, Zainulabedin Waqar, Liping Wei, A. Jeremy Willsey, Boris Yamrom, Yoonha Lee, Ewa Grabowska, Ertuğrul Dalkıç, Zihua Wang, Steven C. Marks, Peter Andrews, Anthony Leotta, Jude Kendall, Inessa Hakker, Julie Rosenbaum, Beicong Ma, Linda Rodgers, Jennifer Troge, Giuseppe Narzisi, Seungtai Yoon, Michael C. Schatz, Kenny Ye, W. Richard McCombie, Jay Shendure, Evan E. Eichler, Matthew W. State, Michael Wigler

    יצא לאור 2014
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    Artigo
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  18. 18
    Disruption of POGZ Is Associated with Intellectual Disability and Autism Spectrum Disorders

    Disruption of POGZ Is Associated with Intellectual Disability and Autism Spectrum Disorders מאת Holly A.F. Stessman, Marjolein H. Willemsen, Michaela Fencková, Osnat Penn, Alexander Hoischen, Bo Xiong, Tianyun Wang, Kendra Hoekzema, Laura Vives, Ida Vogel, Han G. Brunner, Ineke van der Burgt, Charlotte W. Ockeloen, Janneke Schuurs-Hoeijmakers, Jolien S. Klein Wassink‐Ruiter, Connie T. R. M. Stumpel, Servi J.C. Stevens, Hans S.H. Vles, Carlo Marcelis, Hans van Bokhoven, Vincent Cantagrel, Laurence Colleaux, Michaël Nicouleau, Stanislas Lyonnet, Raphael A. Bernier, Jennifer Gerdts, Bradley P. Coe, Corrado Romano, A Alberti, Lucia Grillo, Carmela Scuderi, Magnus Nordenskjöld, Malin Kvarnung, Hui Guo, Kun Xia, Amélie Piton, Bénédicte Gérard, David Geneviève, Bruno Delobel, Daphné Lehalle, Laurence Perrin, Fabienne Prieur, Julien Thévenon, Jozef Gécz, Marie Shaw, Rolph Pfundt, Boris Keren, Aurélia Jacquette, Annette Schenck, Evan E. Eichler, Tjitske Kleefstra

    יצא לאור 2016
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    Artigo
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  19. 19
    Targeted sequencing identifies 91 neurodevelopmental-disorder risk genes with autism and developmental-disability biases

    Targeted sequencing identifies 91 neurodevelopmental-disorder risk genes with autism and developmental-disability biases מאת Holly A.F. Stessman, Bo Xiong, Bradley P. Coe, Tianyun Wang, Kendra Hoekzema, Michaela Fencková, Malin Kvarnung, Jennifer Gerdts, Sandy Trinh, Nele Cosemans, Laura Vives, Janice Lin, Tychele N. Turner, Gijs W.E. Santen, Claudia Ruivenkamp, Marjolein Kriek, Arie van Haeringen, Emmelien Aten, Kathryn Friend, Jan Liebelt, Christopher Barnett, Eric Haan, Marie Shaw, Jozef Gécz, Britt-Marie Anderlid, Ann Nordgren, Anna Lindstrand, Charles E. Schwartz, R. Frank Kooy, Geert Vandeweyer, Céline Helsmoortel, Corrado Romano, A Alberti, Mirella Vinci, Emanuela Avola, Stefania Giusto, Eric Courchesne, Tiziano Pramparo, Karen Pierce, Srinivasa Nalabolu, David G. Amaral, Ingrid E. Scheffer, Martin B. Delatycki, Paul J. Lockhart, Fereydoun Hormozdiari, Benjamin Harich, Anna Castells‐Nobau, Kun Xia, Hilde Peeters, Magnus Nordenskjöld, Annette Schenck, Raphael Bernier, Evan E. Eichler

    יצא לאור 2017
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    Artigo
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  20. 20
    De Novo Disruption of the Proteasome Regulatory Subunit PSMD12 Causes a Syndromic Neurodevelopmental Disorder

    De Novo Disruption of the Proteasome Regulatory Subunit PSMD12 Causes a Syndromic Neurodevelopmental Disorder מאת Sébastien Küry, Thomas Besnard, Frédéric Ebstein, Tahir Naeem Khan, Tomasz Gambin, Jessica Douglas, Carlos A. Bacino, William J. Craigen, Stephan Sanders, Andrea Lehmann, Xénia Latypova, Kamal Khan, Mathilde Pacault, Stephanie Sacharow, Kimberly Glaser, Éric Bieth, Laurence Perrin‐Sabourin, Marie‐Line Jacquemont, Megan T. Cho, Elizabeth Roeder, Anne‐Sophie Denommé‐Pichon, Kristin G. Monaghan, Bo Yuan, Fan Xia, Sylvain Simon, Dominique Bonneau, Philippe Parent, Brigitte Gilbert‐Dussardier, Sylvie Odent, Annick Toutain, Laurent Pasquier, Deborah Barbouth, Chad A. Shaw, Ankita Patel, Janice Smith, Weimin Bi, Sébastien Schmitt, Wallid Deb, Mathilde Nizon, Sandra Mercier, Marie Vincent, Caroline Rooryck, Valérie Malan, Ignacio Briceño, Alberto Gómez, Kimberly Nugent, James B. Gibson, Benjamin Cogné, James R. Lupski, Holly A.F. Stessman, Evan E. Eichler, Kyle Retterer, Yaping Yang, Richard Redon, Nicholas Katsanis, Jill A. Rosenfeld, Peter‐Michael Kloetzel, Christelle Golzio, Stéphane Bézieau, Paweł Stankiewicz, Bertrand Isidor

    יצא לאור 2017
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    Artigo
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