نتائج البحث - Ian Blumenthal

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  1. 1
    Type 1 T Helper Cells Induce the Accumulation of Myeloid-Derived Suppressor Cells in the Inflamed Tgfb1 Knockout Mouse Liver

    Type 1 T Helper Cells Induce the Accumulation of Myeloid-Derived Suppressor Cells in the Inflamed Tgfb1 Knockout Mouse Liver حسب James G. Cripps, Jing Wang, Ann Maria, Ian Blumenthal, James D. Gorham

    منشور في 2010
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    Artigo
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  2. 2
    Transcriptional Consequences of 16p11.2 Deletion and Duplication in Mouse Cortex and Multiplex Autism Families

    Transcriptional Consequences of 16p11.2 Deletion and Duplication in Mouse Cortex and Multiplex Autism Families حسب Ian Blumenthal, Ashok Ragavendran, Serkan Erdin, Lambertus Klei, Aarathi Sugathan, Jolene R. Guide, Poornima Manavalan, Julian Q. Zhou, Vanessa C. Wheeler, Joshua Z. Levin, Carl Ernst, Kathryn Roeder, Bernie Devlin, James F. Gusella, Michael E. Talkowski

    منشور في 2014
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    Artigo
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  3. 3
    Clinical Diagnosis by Whole-Genome Sequencing of a Prenatal Sample

    Clinical Diagnosis by Whole-Genome Sequencing of a Prenatal Sample حسب Michael E. Talkowski, Zehra Ordulu, Vamsee Pillalamarri, Carol B. Benson, Ian Blumenthal, Susan A. Connolly, Carrie Hanscom, Naveed Hussain, Shahrin Pereira, Jonathan Picker, Jill A. Rosenfeld, Lisa G. Shaffer, Louise Wilkins‐Haug, James F. Gusella, Cynthia C. Morton

    منشور في 2012
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    Artigo
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  4. 4
    <i>CHD8</i> regulates neurodevelopmental pathways associated with autism spectrum disorder in neural progenitors

    <i>CHD8</i> regulates neurodevelopmental pathways associated with autism spectrum disorder in neural progenitors حسب Aarathi Sugathan, Marta Biagioli, Christelle Golzio, Serkan Erdin, Ian Blumenthal, Poornima Manavalan, Ashok Ragavendran, Harrison Brand, Diane Lucente, Judith H. Miles, Steven D. Sheridan, Alexei Stortchevoi, Manolis Kellis, Stephen J. Haggarty, Nicholas Katsanis, James F. Gusella, Michael E. Talkowski

    منشور في 2014
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    Artigo
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  5. 5
    Haploinsufficiency of KDM6A is associated with severe psychomotor retardation, global growth restriction, seizures and cleft palate

    Haploinsufficiency of KDM6A is associated with severe psychomotor retardation, global growth restriction, seizures and cleft palate حسب Amelia M. Lindgren, Tatiana Hoyos, Michael E. Talkowski, Carrie Hanscom, Ian Blumenthal, Colby Chiang, Carl Ernst, Shahrin Pereira, Zehra Ordulu, Carol L. Clericuzio, Joanne M. Drautz, Jill A. Rosenfeld, Lisa G. Shaffer, Lea Velsher, Tania Pynn, Joris Vermeesch, David J. Harris, James F. Gusella, Eric C. Liao, Cynthia C. Morton

    منشور في 2013
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  6. 6
    <i>BRF1</i> mutations alter RNA polymerase III–dependent transcription and cause neurodevelopmental anomalies

    <i>BRF1</i> mutations alter RNA polymerase III–dependent transcription and cause neurodevelopmental anomalies حسب Guntram Borck, Friederike Hög, Maria Lisa Dentici, Perciliz L. Tan, Nadine Sowada, Ana Medeira, Lucie Gueneau, Hölger Thiele, Maria Kousi, Francesca Romana Lepri, Larissa Wenzeck, Ian Blumenthal, A. Radicioni, Tito Livio Schwarzenberg, Barbara Mandriani, Rita Fischetto, Deborah Morris‐Rosendahl, Janine Altmüller, Alexandre Reymond, Peter Nürnberg, Giuseppe Merla, Bruno Dallapiccola, Nicholas Katsanis, Patrick Cramer, Christian Kubisch

    منشور في 2015
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    Errata/Corrigenda
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  7. 7
    Structural Chromosomal Rearrangements Require Nucleotide-Level Resolution: Lessons from Next-Generation Sequencing in Prenatal Diagnosis

    Structural Chromosomal Rearrangements Require Nucleotide-Level Resolution: Lessons from Next-Generation Sequencing in Prenatal Diagnosis حسب Zehra Ordulu, Tammy Kammin, Harrison Brand, Vamsee Pillalamarri, Claire Redin, Ryan L. Collins, Ian Blumenthal, Carrie Hanscom, Shahrin Pereira, India Bradley, Barbara F. Crandall, Pamela Gerrol, Mark A. Hayden, Naveed Hussain, Bibi Kanengisser‐Pines, Sibel Kantarci, Brynn Levy, Michael J. Macera, Fabiola Quintero‐Rivera, Erica Spiegel, Blair Stevens, Janet E. Ulm, Dorothy Warburton, Louise Wilkins‐Haug, Naomi Yachelevich, James F. Gusella, Michael E. Talkowski, Cynthia C. Morton

    منشور في 2016
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  8. 8
    Complex reorganization and predominant non-homologous repair following chromosomal breakage in karyotypically balanced germline rearrangements and transgenic integration

    Complex reorganization and predominant non-homologous repair following chromosomal breakage in karyotypically balanced germline rearrangements and transgenic integration حسب Colby Chiang, Jessie C. Jacobsen, Carl Ernst, Carrie Hanscom, Adrian Heilbut, Ian Blumenthal, Ryan E. Mills, Andrew Kirby, Amelia M. Lindgren, Skye R. Rudiger, Clive J. McLaughlan, C. Simon Bawden, Suzanne J. Reid, Richard L. M. Faull, Russell G. Snell, Ira M. Hall, Yiping Shen, Toshiro K. Ohsumi, Mark L. Borowsky, Mark J. Daly, Charles Lee, Cynthia C. Morton, Marcy E. MacDonald, James F. Gusella, Michael E. Talkowski

    منشور في 2012
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    Artigo
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  9. 9
    Disruption of a Large Intergenic Noncoding RNA in Subjects with Neurodevelopmental Disabilities

    Disruption of a Large Intergenic Noncoding RNA in Subjects with Neurodevelopmental Disabilities حسب Michael E. Talkowski, Gilles Maussion, Liam Crapper, Jill A. Rosenfeld, Ian Blumenthal, Carrie Hanscom, Colby Chiang, Amelia M. Lindgren, Shahrin Pereira, Douglas M. Ruderfer, Alpha Diallo, Juan Pablo López, Gustavo Turecki, Elizabeth Chen, Carolina Oliveira Gigek, David J. Harris, Va Lip, Yu An, Marta Biagioli, Marcy E. MacDonald, Michael F. Lin, Stephen J. Haggarty, Pamela Sklar, Shaun Purcell, Manolis Kellis, Stuart Schwartz, Lisa G. Shaffer, Marvin R. Natowicz, Yiping Shen, Cynthia C. Morton, James F. Gusella, Carl Ernst

    منشور في 2012
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    Artigo
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  10. 10
    Implication of <i>LRRC4C</i> and <i>DPP6</i> in neurodevelopmental disorders

    Implication of <i>LRRC4C</i> and <i>DPP6</i> in neurodevelopmental disorders حسب Gilles Maussion, Cristiana Cruceanu, Jill A. Rosenfeld, Scott C. Bell, Fabrice Jollant, Jin Szatkiewicz, Ryan L. Collins, Carrie Hanscom, Ilaria Kolobova, Nicolas Menjot de Champfleur, Ian Blumenthal, Colby Chiang, Vanessa Kiyomi Ota, Christina M. Hultman, Colm O’Dushlaine, Steve McCarroll, Martin Alda, Sébastien Jacquemont, Zehra Ordulu, Christian R. Marshall, Melissa T. Carter, Lisa G. Shaffer, Pamela Sklar, Santhosh Girirajan, Cynthia C. Morton, James F. Gusella, Gustavo Turecki, Dimitri J. Stavropoulos, Patrick F. Sullivan, Stephen W. Scherer, Michael E. Talkowski, Carl Ernst

    منشور في 2016
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    Artigo
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  11. 11
    Sequencing Chromosomal Abnormalities Reveals Neurodevelopmental Loci that Confer Risk across Diagnostic Boundaries

    Sequencing Chromosomal Abnormalities Reveals Neurodevelopmental Loci that Confer Risk across Diagnostic Boundaries حسب Michael E. Talkowski, Jill A. Rosenfeld, Ian Blumenthal, Vamsee Pillalamarri, Colby Chiang, Adrian Heilbut, Carl Ernst, Carrie Hanscom, Elizabeth J. Rossin, Amelia M. Lindgren, Shahrin Pereira, Douglas M. Ruderfer, Andrew Kirby, Stephan Ripke, David J. Harris, Ji‐Hyun Lee, Kyungsoo Ha, Hyung‐Goo Kim, Benjamin D. Solomon, Andrea Gropman, Diane Lucente, Katherine B. Sims, Toshiro K. Ohsumi, Mark L. Borowsky, Stephanie Loranger, Bradley J. Quade, Kasper Lage, Judith H. Miles, Bai-Lin Wu, Yiping Shen, Benjamin M. Neale, Lisa G. Shaffer, Mark J. Daly, Cynthia C. Morton, James F. Gusella

    منشور في 2012
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    Artigo
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  12. 12
    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 حسب 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

    منشور في 2012
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    Artigo
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  13. 13
    A Potential Contributory Role for Ciliary Dysfunction in the 16p11.2 600 kb BP4-BP5 Pathology

    A Potential Contributory Role for Ciliary Dysfunction in the 16p11.2 600 kb BP4-BP5 Pathology حسب Eugenia Migliavacca, Christelle Golzio, Katrin Männik, Ian Blumenthal, Edwin C. Oh, Louise Harewood, Jack A. Kosmicki, Maria Nicla Loviglio, Giuliana Giannuzzi, Loyse Hippolyte, Anne Maillard, Ali Abdullah Alfaiz, Mieke M. van Haelst, Joris Andrieux, James F. Gusella, Mark J. Daly, J. Beckmann, Sébastien Jacquemont, Michael E. Talkowski, Nicholas Katsanis, Alexandre Reymond, Eugenia Migliavacca, Katrin Männik, Louise Harewood, Maria Nicla Loviglio, Robert M. Witwicki, Gérard Didelot, Ilse van der Werf, Ali Abdullah Alfaiz, Marianna Zazhytska, Giuliana Giannuzzi, Jacqueline Chrast, Aurélien Macé, Sven Bergmann, Zoltán Kutalik, Loyse Hippolyte, Anne Maillard, Vanessa Siffredi, Flore Zufferey, Danielle Martinet, Frédérique Béna, Anita Rauch, Sonia Bouquillon, Joris Andrieux, Bruno Delobel, Odile Boute, Bénédicte Duban‐Bedu, Cédric Le Caignec, Bertrand Isidor, Jean Chiésa, Boris Keren, Brigitte Gilbert‐Dussardier, Renaud Touraine, Dominique Campion, Caroline Rooryck, Michèle Mathieu‐Dramard, Ghislaine Plessis, R. Frank Kooy, Hilde Peeters, Katrin Õunap, Anneke T. Vulto‐van Silfhout, Bert Ba de Vries, Ellen van Binsbergen, Mieke M. van Haelst, Ann Nordgren, Mafalda Mucciolo, Alessandra Renieri, Evica Rajcan‐Separovic, John A. Philipps, Richard J. Ellis, J. Beckmann, Sébastien Jacquemont, Alexandre Reymond

    منشور في 2015
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    Artigo
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  14. 14
    The genomic landscape of balanced cytogenetic abnormalities associated with human congenital anomalies

    The genomic landscape of balanced cytogenetic abnormalities associated with human congenital anomalies حسب Claire Redin, Harrison Brand, Ryan L. Collins, Tammy Kammin, Elyse Mitchell, Jennelle C. Hodge, Carrie Hanscom, Vamsee Pillalamarri, Catarina M. Seabra, Mary‐Alice Abbott, Omar Abdul‐Rahman, Erika Aberg, Rhett Adley, Sofía Lizeth Alcaráz‐Estrada, Fowzan S. Alkuraya, Yu An, MaryAnne Anderson, Caroline Antolik, Kwame Anyane‐Yeboa, Joan Atkin, Tina M. Bartell, Jonathan A. Bernstein, Elizabeth Beyer, Ian Blumenthal, Ernie M.H.F. Bongers, Eva H. Brilstra, Chester Brown, Hennie T. Brüggenwirth, Bert Callewaert, Colby Chiang, Ken Corning, Helen Cox, Edwin Cuppen, Benjamin Currall, Tom Cushing, D. David, Matthew A. Deardorff, Annelies Dheedene, Marc D’Hooghe, Bert B.A. de Vries, Dawn Earl, Heather Ferguson, Heather Fisher, David Fitzpatrick, Pamela Gerrol, Daniela Giachino, Joseph Glessner, Troy J. Gliem, Margo Grady, Brett H. Graham, Cristin Griffis, Karen W. Gripp, Andrea Gropman, Andrea Hanson‐Kahn, David J. Harris, Mark A. Hayden, R. Sean Hill, Ron Hochstenbach, Jodi D. Hoffman, Robert J. Hopkin, Monika Weisz Hubshman, A. Micheil Innes, Mira Irons, Melita Irving, Jessie C. Jacobsen, Sandra Janssens, Tamison Jewett, John P. Johnson, Marjolijn C.J. Jongmans, Stephen G. Kahler, David A. Koolen, Jerome Korzelius, Peter M. Kroisel, Yves Lacassie, William Lawless, Emmanuelle Lemyre, Kathleen A. Leppig, Alex V. Levin, Haibo Li, Hong Li, Eric C. Liao, Cynthia Lim, Edward J. Lose, Diane Lucente, Michael J. Macera, Poornima Manavalan, Giorgia Mandrile, Carlo Marcelis, Lauren Margolin, Tamara Mason, Diane Masser‐Frye, Michael McClellan, Cinthya J. Zepeda Mendoza, Björn Menten, Sjors Middelkamp, Liya Regina Mikami, Emily Moe, Shehla Mohammed, Tarja Mononen, Megan Mortenson

    منشور في 2016
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    Artigo
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