Výsledky vyhledávání - Blumenthal, Ian

Nonclassical antagonism between human lysozyme and AMPs against Pseudomonas aeruginosa Autor Blumenthal, Ian, Davis, Lydia R., Berman, Chet M., Griswold, Karl E.

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Th1 cells induce the accumulation of myeloid derived suppressor cells in the inflamed Tgfb1 knockout mouse liver Autor Cripps, James G., Wang, Jing, Maria, Ann, Blumenthal, Ian, Gorham, James D.

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Molecular Analysis of a Deletion Hotspot in the NRXN1 Region Reveals the Involvement of Short Inverted Repeats in Deletion CNVs Autor Chen, Xiaoli, Shen, Yiping, Zhang, Feng, Chiang, Colby, Pillalamarri, Vamsee, Blumenthal, Ian, Talkowski, Michael, Wu, Bai-Lin, Gusella, James F.

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

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Engineering microdeletions and microduplications by targeting segmental duplications with CRISPR Autor Tai, Derek J. C., Ragavendran, Ashok, Manavalan, Poornima, Stortchevoi, Alexei, Seabra, Catarina M., Erdin, Serkan, Collins, Ryan L., Blumenthal, Ian, Chen, Xiaoli, Shen, Yiping, Sahin, Mustafa, Zhang, Chengsheng, Lee, Charles, Gusella, James F., Talkowski, Michael E.

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

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

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Potential molecular consequences of transgene integration: The R6/2 mouse example Autor Jacobsen, Jessie C., Erdin, Serkan, Chiang, Colby, Hanscom, Carrie, Handley, Renee R., Barker, Douglas D., Stortchevoi, Alex, Blumenthal, Ian, Reid, Suzanne J., Snell, Russell G., MacDonald, Marcy E., Morton, A. Jennifer, Ernst, Carl, Gusella, James F., Talkowski, Michael E.

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

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A Potential Contributory Role for Ciliary Dysfunction in the 16p11.2 600 kb BP4-BP5 Pathology Autor Migliavacca, Eugenia, Golzio, Christelle, Männik, Katrin, Blumenthal, Ian, Oh, Edwin C., Harewood, Louise, Kosmicki, Jack A., Loviglio, Maria Nicla, Giannuzzi, Giuliana, Hippolyte, Loyse, Maillard, Anne M., Alfaiz, Ali Abdullah, van Haelst, Mieke M., Andrieux, Joris, Gusella, James F., Daly, Mark J., Beckmann, Jacques S., Jacquemont, Sébastien, Talkowski, Michael E., Katsanis, Nicholas, Reymond, Alexandre

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

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

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

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Highly penetrant alterations of a critical region including BDNF contribute to human psychopathology Autor Ernst, Carl, Marshall, Christian R., Shen, Yiping, Metcalfe, Kay, Rosenfeld, Jill, Hodge, Jennelle C., Torres, Alcy, Blumenthal, Ian, Chiang, Colby, Pillalamarri, Vamsee, Crapper, Liam, Diallo, Alpha B., Ruderfer, Douglas, Pereira, Shahrin, Sklar, Pamela, Purcell, Shaun, Wildin, Robert S., Spencer, Anne C., Quade, Bradley F., Harris, David J., Lemyre, Emanuelle, Wu, Bailin, Stavropoulos, Dimitri J., Geraghty, Michael T., Shaffer, Lisa G., Morton, Cynthia C, Scherer, Stephen W., Gusella, James F., Talkowski, Michael E.

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

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

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

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Sequencing chromosomal abnormalities reveals neurodevelopmental loci that confer risk across diagnostic boundaries Autor Talkowski, Michael E., Rosenfeld, Jill A., Blumenthal, Ian, Pillalamarri, Vamsee, Chiang, Colby, Heilbut, Adrian, Ernst, Carl, Hanscom, Carrie, Rossin, Elizabeth, Lindgren, Amelia, Pereira, Shahrin, Ruderfer, Douglas, Kirby, Andrew, Ripke, Stephan, Harris, David, Lee, Ji-Hyun, Ha, Kyungsoo, Kim, Hyung-Goo, Solomon, Benjamin D., Gropman, Andrea L., Lucente, Diane, Sims, Katherine, Ohsumi, Toshiro K., Borowsky, Mark L., Loranger, Stephanie, Quade, Bradley, Lage, Kasper, Miles, Judith, Wu, Bai-Lin, Shen, Yiping, Neale, Benjamin, Shaffer, Lisa G., Daly, Mark J., Morton, Cynthia C., Gusella, James F.

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

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The Genomic Landscape of Balanced Cytogenetic Abnormalities Associated with Human Congenital Anomalies Autor Redin, Claire, Brand, Harrison, Collins, Ryan L., Kammin, Tammy, Mitchell, Elyse, Hodge, Jennelle C., Hanscom, Carrie, Pillalamarri, Vamsee, Seabra, Catarina M., Abbott, Mary-Alice, Abdul-Rahman, Omar A., Aberg, Erika, Adley, Rhett, Alcaraz-Estrada, Sofia L., Alkuraya, Fowzan S., An, Yu, Anderson, Mary-Anne, Antolik, Caroline, Anyane-Yeboa, Kwame, Atkin, Joan F., Bartell, Tina, Bernstein, Jonathan A., Beyer, Elizabeth, Blumenthal, Ian, Bongers, Ernie M.H.F., Brilstra, Eva H., Brown, Chester W., Brüggenwirth, Hennie T., Callewaert, Bert, Chiang, Colby, Corning, Ken, Cox, Helen, Cuppen, Edwin, Currall, Benjamin B., Cushing, Tom, David, Dezso, Deardorff, Matthew A., Dheedene, Annelies, D’Hooghe, Marc, de Vries, Bert B.A., Earl, Dawn L., Ferguson, Heather L., Fisher, Heather, FitzPatrick, David R., Gerrol, Pamela, Giachino, Daniela, Glessner, Joseph T., Gliem, Troy, Grady, Margo, Graham, Brett H., Griffis, Cristin, Gripp, Karen W., Gropman, Andrea L., Hanson-Kahn, Andrea, Harris, David J., Hayden, Mark A., Hill, Rosamund, Hochstenbach, Ron, Hoffman, Jodi D., Hopkin, Robert J., Hubshman, Monika W., Innes, A. Micheil, Irons, Mira, Irving, Melita, Jacobsen, Jessie C., Janssens, Sandra, Jewett, Tamison, Johnson, John P., Jongmans, Marjolijn C., Kahler, Stephen G., Koolen, David A., Korzelius, Jerome, Kroisel, Peter M., Lacassie, Yves, Lawless, William, Lemyre, Emmanuelle, Leppig, Kathleen, Levin, Alex V., Li, Haibo, Li, Hong, Liao, Eric C., Lim, Cynthia, Lose, Edward J., Lucente, Diane, Macera, Michael J., Manavalan, Poornima, Mandrile, Giorgia, Marcelis, Carlo L., Margolin, Lauren, Mason, Tamara, Masser-Frye, Diane, McClellan, Michael W., Zepeda Mendoza, Cinthya J., Menten, Björn, Middelkamp, Sjors, Mikami, Liya R., Moe, Emily, Mohammed, Shehla, Mononen, Tarja, Mortenson, Megan E., Moya, Graciela, Nieuwint, Aggie W., Ordulu, Zehra, Parkash, Sandhya, Pauker, Susan P., Pereira, Shahrin, Perrin, Danielle, Phelan, Katy, Piña Aguilar, Raul E., Poddighe, Pino J., Pregno, Giulia, Raskin, Salmo, Reis, Linda, Rhead, William, Rita, Debra, Renkens, Ivo, Roelens, Filip, Ruliera, Jayla, Rump, Patrick, Schilit, Samantha L.P., Shaheen, Ranad, Sparkes, Rebecca, Spiegel, Erica, Stevens, Blair, Stone, Matthew R., Tagoe, Julia, Thakuria, Joseph V., van Bon, Bregje W., van de Kamp, Jiddeke, van Der Burgt, Ineke, van Essen, Ton, van Ravenswaaij-Arts, Conny M., van Roosmalen, Markus J., Vergult, Sarah, Volker-Touw, Catharina M.L., Warburton, Dorothy P., Waterman, Matthew J., Wiley, Susan, Wilson, Anna, Yerena-de Vega, Maria de la Concepcion A., Zori, Roberto T., Levy, Brynn, Brunner, Han G., de Leeuw, Nicole, Kloosterman, Wigard P., Thorland, Erik C., Morton, Cynthia C., Gusella, James F., Talkowski, Michael E.

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