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 von Stessman, H A F, Mansoor, A, Zhan, F, Janz, S, Linden, M A, Baughn, L B, Van Ness, B

Volltext

Recurrent de novo mutations implicate novel genes underlying simplex autism risk von O'Roak, B. J., Stessman, H. A., Boyle, E. A., Witherspoon, K. T., Martin, B., Lee, C., Vives, L., Baker, C., Hiatt, J. B., Nickerson, D. A., Bernier, R., Shendure, J., Eichler, E. E.

Volltext

Single-cell analysis of targeted transcriptome predicts drug sensitivity of single cells within human myeloma tumors von Mitra, A K, Mukherjee, U K, Harding, T, Jang, J S, Stessman, H, Li, Y, Abyzov, A, Jen, J, Kumar, S, Rajkumar, V, Van Ness, B

Volltext

High-throughput drug screening identifies compounds and molecular strategies for targeting proteasome inhibitor-resistant multiple myeloma von Stessman, H A F, Lulla, A, Xia, T, Mitra, A, Harding, T, Mansoor, A, Myers, C L, Van Ness, B G, Dolloff, N G

Volltext

Recurrent de novo mutations implicate novel genes underlying simplex autism risk von O'Roak, B. J., Stessman, H. A., Boyle, E. A., Witherspoon, K. T., Martin, B., Lee, C., Vives, L., Baker, C., Hiatt, J. B., Nickerson, D. A., Bernier, R., Shendure, J., Eichler, E. E.

Volltext

Gene-nutrient interactions that impact magnesium homeostasis increase risk for neural tube defects in mice exposed to dolutegravir von Gelineau-van Waes, J, van Waes, M A, Hallgren, J, Hulen, J, Bredehoeft, M, Ashley-Koch, A E, Krupp, D, Gregory, S G, Stessman, H A

Volltext

Clinical Presentation of a Complex Neurodevelopmental Disorder Caused by Mutations in ADNP von Van Dijck, Anke, Vulto-van Silfhout, Anneke T., Cappuyns, Elisa, van der Werf, Ilse M., Mancini, Grazia M., Tzschach, Andreas, Bernier, Raphael, Gozes, Illana, Eichler, Evan E., Romano, Corrado, Lindstrand, Anna, Nordgren, Ann, Bakshi, Madhura, Wilson, Meredith, Berman, Yemina, Dickson, Rebecca, Fransen, Erik, Helsmoortel, Céline, Van den Ende, Jenneke, Van der Aa, Nathalie, van de Wijdeven, Marina J., Rosenblum, Jessica, Monteiro, Fabíola, Kok, Fernando, Quercia, Nada, Bowdin, Sarah, Dyment, David, Chitayat, David, Alkhunaizi, Ebba, Boonen, Susanne E., Keren, Boris, Jacquette, Aurelia, Faivre, Laurence, Bezieau, Stephane, Isidor, Bertrand, Rieß, Angelika, Moog, Ute, Lynch, Sally Ann, McVeigh, Terri, Elpeleg, Orly, Smeland, Marie Falkenberg, Fannemel, Madeleine, van Haeringen, Arie, Maas, Saskia M., Veenstra-Knol, H.E., Schouten, Meyke, Willemsen, Marjolein H., Marcelis, Carlo L., Ockeloen, Charlotte, van der Burgt, Ineke, Feenstra, Ilse, van der Smagt, Jasper, Jezela-Stanek, Aleksandra, Krajewska-Walasek, Malgorzata, González-Lamuño, Domingo, Anderlid, Britt-Marie, Malmgren, Helena, Nordenskjöld, Magnus, Hurst, Jane, Metcalfe, Kay, Mansour, Sahar, Lachlan, Katherine, Clayton-Smith, Jill, Hendon, Laura G., Abdulrahman, Omar A., Morrow, Eric, McMillan, Clare, Gerdts, Jennifer, Peeden, Joseph, Schrier Vergano, Samantha A., Valentino, Caitlin, Chung, Wendy K., Ozmore, Jillian R., Bedrosian-Sermone, Sandra, Treat, Kayla, Hughes, Susan Starling, Safina, Nicole, Le Pichon, Jean-Baptiste, McGuire, Marianne, Infante, Elena, Madan-Khetarpal, Suneeta, Desai, Sonal, Benke, Paul, Krokosky, Alyson, Cristian, Ingrid, Baker, Laura, Gripp, Karen, Stessman, Holly A., Eichenberger, Jacob, Jayakar, Parul, Manning, Melanie Ann, Slattery, Leah, Kvarnung, Malin, Kleefstra, Tjitske, de Vries, Bert B.A., Küry, Sébastien, Rosenfeld, Jill A., Meuwissen, Marije E., Vandeweyer, Geert, Kooy, R. Frank

Volltext

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

Volltext

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

Volltext

CO2 concentrating mechanism and photosynthetic carbon assimilation in limiting CO2: how Chlamydomonas works against the gradient von Wang, Yingjun, Stessman, Dan J, Spalding, Martin H

Volltext

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

Volltext

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

Volltext

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

Volltext

Arabidopsis plants expressing only the redox‐regulated Rca‐α isoform have constrained photosynthesis and plant growth von Kim, Sang Yeol, Stessman, Dan J., Wright, David A., Spalding, Martin H., Huber, Steven C., Ort, Donald R.

Volltext

P2248Longitudinal changes in cardiac function at the extremes of aging von Leibowitz, D, Stessman-Lande, I, Sliman, H, Jacobs, J, Stessman, J, Gilon, D

Volltext

ADCY5-related dyskinesia: Broader spectrum and genotype–phenotype correlations von Chen, Dong-Hui, Méneret, Aurélie, Friedman, Jennifer R, Korvatska, Olena, Gad, Alona, Bonkowski, Emily S, Stessman, Holly A, Doummar, Diane, Mignot, Cyril, Anheim, Mathieu, Bernes, Saunder, Davis, Marie Y, Damon-Perrière, Nathalie, Degos, Bertrand, Grabli, David, Gras, Domitille, Hisama, Fuki M, Mackenzie, Katherine M, Swanson, Phillip D, Tranchant, Christine, Vidailhet, Marie, Winesett, Steven, Trouillard, Oriane, Amendola, Laura M, Dorschner, Michael O, Weiss, Michael, Eichler, Evan E, Torkamani, Ali, Roze, Emmanuel, Bird, Thomas D, Raskind, Wendy H

Volltext

Chlamydomonas reinhardtii thermal tolerance enhancement mediated by a mutualistic interaction with vitamin B12-producing bacteria von Xie, Bo, Bishop, Shawn, Stessman, Dan, Wright, David, Spalding, Martin H, Halverson, Larry J

Volltext

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

Volltext

Single-cell genetic models to evaluate orphan gene function: The case of QQS regulating carbon and nitrogen allocation von Wang, Lei, Tonsager, Andrew J, Zheng, Wenguang, Wang, Yingjun, Stessman, Dan, Fang, Wei, Stenback, Kenna E, Campbell, Alexis, Tanvir, Rezwan, Zhang, Jinjiang, Cothron, Samuel, Wan, Dongli, Meng, Yan, Spalding, Martin H, Nikolau, Basil J, Li, Ling

Volltext

High‐throughput fluorescence‐activated cell sorting for lipid hyperaccumulating Chlamydomonas reinhardtii mutants von Xie, Bo, Stessman, Dan, Hart, Jason H, Dong, Haili, Wang, Yingjun, Wright, David A, Nikolau, Basil J, Spalding, Martin H, Halverson, Larry J

Volltext