Functional evaluation of the C-terminal region of bacteriophage T4 Rad50 von Streff, Haley E., Gao, Yang, Nelson, Scott W.

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De Novo Truncating Mutations in the Kinetochore-Microtubules Attachment Gene CHAMP1 Cause Syndromic Intellectual Disability von Isidor, Bertrand, Küry, Sébastien, Rosenfeld, Jill A., Besnard, Thomas, Schmitt, Sébastien, Joss, Shelagh, Davies, Sally J, Roger Lebel, Robert, Henderson, Alex, Schaaf, Christian P., Streff, Haley E., Yang, Yaping, Jain, Vani, Chida, Nodoka, Latypova, Xenia, Caignec, Cédric Le, Cogné, Benjamin, Mercier, Sandra, Vincent, Marie, Colin, Estelle, Bonneau, Dominique, Denommé, Anne-Sophie, Parent, Philippe, Gilbert-Dussardier, Brigitte, Odent, Sylvie, Toutain, Annick, Piton, Amélie, Dina, Christian, Donnart, Audrey, Lindenbaum, Pierre, Charpentier, Eric, Redon, Richard, Iemura, Kenji, Ikeda, Masanori, Tanaka, Kozo, Bézieau, Stéphane

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Phenotypic and molecular characterisation of CDK13-related congenital heart defects, dysmorphic facial features and intellectual developmental disorders von Bostwick, Bret L, McLean, Scott, Posey, Jennifer E, Streff, Haley E, Gripp, Karen W, Blesson, Alyssa, Powell-Hamilton, Nina, Tusi, Jessica, Stevenson, David A, Farrelly, Ellyn, Hudgins, Louanne, Yang, Yaping, Xia, Fan, Wang, Xia, Liu, Pengfei, Walkiewicz, Magdalena, McGuire, Marianne, Grange, Dorothy K, Andrews, Marisa V, Hummel, Marybeth, Madan-Khetarpal, Suneeta, Infante, Elena, Coban-Akdemir, Zeynep, Miszalski-Jamka, Karol, Jefferies, John L, Rosenfeld, Jill A, Emrick, Lisa, Nugent, Kimberly M, Lupski, James R, Belmont, John W, Lee, Brendan, Lalani, Seema R

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De novo mutations in MED13, a component of the Mediator complex, are associated with a novel neurodevelopmental disorder von Snijders Blok, Lot, Hiatt, Susan M., Bowling, Kevin M., Prokop, Jeremy W., Engel, Krysta L., Cochran, J. Nicholas, Bebin, E. Martina, Bijlsma, Emilia K., Ruivenkamp, Claudia A. L., Terhal, Paulien, Simon, Marleen E. H., Smith, Rosemarie, Hurst, Jane A., McLaughlin, Heather, Person, Richard, Crunk, Amy, Wangler, Michael F., Streff, Haley, Symonds, Joseph D., Zuberi, Sameer M., Elliott, Katherine S., Sanders, Victoria R., Masunga, Abigail, Hopkin, Robert J., Dubbs, Holly A., Ortiz-Gonzalez, Xilma R., Pfundt, Rolph, Brunner, Han G., Fisher, Simon E., Kleefstra, Tjitske, Cooper, Gregory M.

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Haploinsufficiency of the Chromatin Remodeler BPTF Causes Syndromic Developmental and Speech Delay, Postnatal Microcephaly, and Dysmorphic Features von Stankiewicz, Paweł, Khan, Tahir N., Szafranski, Przemyslaw, Slattery, Leah, Streff, Haley, Vetrini, Francesco, Bernstein, Jonathan A., Brown, Chester W., Rosenfeld, Jill A., Rednam, Surya, Scollon, Sarah, Bergstrom, Katie L., Parsons, Donald W., Plon, Sharon E., Vieira, Marta W., Quaio, Caio R.D.C., Baratela, Wagner A.R., Acosta Guio, Johanna C., Armstrong, Ruth, Mehta, Sarju G., Rump, Patrick, Pfundt, Rolph, Lewandowski, Raymond, Fernandes, Erica M., Shinde, Deepali N., Tang, Sha, Hoyer, Juliane, Zweier, Christiane, Reis, André, Bacino, Carlos A., Xiao, Rui, Breman, Amy M., Smith, Janice L., Katsanis, Nicholas, Bostwick, Bret, Popp, Bernt, Davis, Erica E., Yang, Yaping

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Reanalysis of Clinical Exome Sequencing Data von Liu, Pengfei, Meng, Linyan, Normand, Elizabeth A, Xia, Fan, Song, Xiaofei, Ghazi, Andrew, Rosenfeld, Jill, Magoulas, Pilar L, Braxton, Alicia, Ward, Patricia, Dai, Hongzheng, Yuan, Bo, Bi, Weimin, Xiao, Rui, Wang, Xia, Chiang, Theodore, Vetrini, Francesco, He, Weimin, Cheng, Hanyin, Dong, Jie, Gijavanekar, Charul, Benke, Paul J, Bernstein, Jonathan A, Eble, Tanya, Eroglu, Yasemen, Erwin, Deanna, Escobar, Luis, Gibson, James B, Gripp, Karen, Kleppe, Soledad, Koenig, Mary K, Lewis, Andrea M, Natowicz, Marvin, Mancias, Pedro, Minor, LaKeesha, Scaglia, Fernando, Schaaf, Christian P, Streff, Haley, Vernon, Hilary, Uhles, Crescenda L, Zackai, Elaine H, Wu, Nan, Sutton, V. Reid, Beaudet, Arthur L, Muzny, Donna, Gibbs, Richard A, Posey, Jennifer E, Lalani, Seema, Shaw, Chad, Eng, Christine M, Lupski, James R, Yang, Yaping

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BAZ2B haploinsufficiency as a cause of developmental delay, intellectual disability, and autism spectrum disorder von Scott, Tiana M., Guo, Hui, Eichler, Evan E., Rosenfeld, Jill A., Pang, Kaifang, Liu, Zhandong, Lalani, Seema, Bi, Weimin, Yang, Yaping, Bacino, Carlos A., Streff, Haley, Lewis, Andrea M., Koenig, Mary K., Thiffault, Isabelle, Bellomo, Allison, Everman, David B., Jones, Julie R., Stevenson, Roger E., Bernier, Raphael, Gilissen, Christian, Pfundt, Rolph, Hiatt, Susan M., Cooper, Gregory M., Holder, Jimmy L., Scott, Daryl A.

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Clinical spectrum of individuals with pathogenic NF1 missense variants affecting p.Met1149, p.Arg1276, and p.Lys1423: genotype–phenotype study in neurofibromatosis type 1 von Koczkowska, Magdalena, Callens, Tom, Chen, Yunjia, Gomes, Alicia, Hicks, Alesha D., Sharp, Angela, Johns, Eric, Uhas, Kim Armfield, Armstrong, Linlea, Bosanko, Katherine Armstrong, Babovic‐Vuksanovic, Dusica, Baker, Laura, Basel, Donald G., Bennett, James T., Chambers, Chelsea, Clarkson, Lola K., Clementi, Maurizio, Cortés, Fanny M., Cunningham, Mitch, D'Agostino, M. Daniela, Delatycki, Martin B., Digilio, Maria C., Dosa, Laura, Esposito, Silvia, Fox, Stephanie, Freckmann, Mary‐Louise, Fauth, Christine, Giugliano, Teresa, Giustini, Sandra, Goetsch, Allison, Greenwood, Robert S., Griffis, Cristin, Gripp, Karen W., Gupta, Punita, Haan, Eric, Hachen, Rachel K., Haygarth, Tamara L., Hernández‐Chico, Concepción, Hodge, Katelyn, Hopkin, Robert J., Hudgins, Louanne, Janssens, Sandra, Keller, Kory, Kelly‐Mancuso, Geraldine, Kochhar, Aaina, Korf, Bruce R., Lewis, Andrea M., Liebelt, Jan, Lichty, Angie, Listernick, Robert H., Lyons, Michael J., Maystadt, Isabelle, Martinez Ojeda, Mayra, McDougall, Carey, McGregor, Lesley K., Melis, Daniela, Mendelsohn, Nancy, Nowaczyk, Malgorzata J.M., Ortenberg, June, Panzer, Karin, Pierpont, Mary Ella, Piluso, Giulio, Pinna, Valentina, Pivnick, Eniko K., Pond, Dinel A., Powell, Cynthia M., Rogers, Caleb, Ruhrman Shahar, Noa, Rutledge, S. Lane, Saletti, Veronica, Sandaradura, Sarah A., Schatz, Ulrich A., Scott, Daryl A., Sellars, Elizabeth A., Sheffer, Ruth, Siqveland, Elizabeth, Slopis, John M., Smith, Rosemarie, Spalice, Alberto, Stockton, David W., Streff, Haley, Theos, Amy, Tomlinson, Gail E., Tran, Grace, Trapane, Pamela L., Trevisson, Eva, Ullrich, Nicole J., Van den Ende, Jenneke, Schrier Vergano, Samantha A., Wallace, Stephanie E., Wangler, Michael F., Yohay, Kaleb H., Zackai, Elaine, Zonana, Jonathan, Claes, Kathleen B. M., Eoli, Marica, Wimmer, Katharina, De Luca, Alessandro, Legius, Eric, Messiaen, Ludwine M.

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De Novo Variants in the ATPase Module of MORC2 Cause a Neurodevelopmental Disorder with Growth Retardation and Variable Craniofacial Dysmorphism von Guillen Sacoto, Maria J., Tchasovnikarova, Iva A., Torti, Erin, Forster, Cara, Andrew, E. Hallie, Anselm, Irina, Baranano, Kristin W., Briere, Lauren C., Cohen, Julie S., Craigen, William J., Cytrynbaum, Cheryl, Ekhilevitch, Nina, Elrick, Matthew J., Fatemi, Ali, Fraser, Jamie L., Gallagher, Renata C., Guerin, Andrea, Haynes, Devon, High, Frances A., Inglese, Cara N., Kiss, Courtney, Koenig, Mary Kay, Krier, Joel, Lindstrom, Kristin, Marble, Michael, Meddaugh, Hannah, Moran, Ellen S., Morel, Chantal F., Mu, Weiyi, Muller, Eric A., Nance, Jessica, Natowicz, Marvin R., Numis, Adam L., Ostrem, Bridget, Pappas, John, Stafstrom, Carl E., Streff, Haley, Sweetser, David A., Szybowska, Marta, Walker, Melissa A., Wang, Wei, Weiss, Karin, Weksberg, Rosanna, Wheeler, Patricia G., Yoon, Grace, Kingston, Robert E., Juusola, Jane

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TSC1 Variant Associated With Mild or Absent Clinical Features of Tuberous Sclerosis Complex in a Three-Generation Family von Streff, Haley, Posey, Jennifer E., Mauer, Caitlin B., Krempely, Kate, Potocki, Lorraine, Northrup, Hope

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Burden re-analysis of neurodevelopmental disorder cohorts for prioritization of candidate genes von Smal, Noor, Majdoub, Fatma, Janssens, Katrien, Reyniers, Edwin, Meuwissen, Marije E. C., Ceulemans, Berten, Northrup, Hope, Hill, Jeremy B., Liu, Lingying, Errichiello, Edoardo, Gana, Simone, Strong, Alanna, Rohena, Luis, Franciskovich, Rachel, Murali, Chaya N., Huybrechs, An, Sulem, Telma, Fridriksdottir, Run, Sulem, Patrick, Stefansson, Kari, Bai, Yan, Rosenfeld, Jill A., Lalani, Seema R., Streff, Haley, Kooy, R. Frank, Weckhuysen, Sarah

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Aberrant Function of the C-Terminal Tail of HIST1H1E Accelerates Cellular Senescence and Causes Premature Aging von Flex, Elisabetta, Martinelli, Simone, Van Dijck, Anke, Ciolfi, Andrea, Cecchetti, Serena, Coluzzi, Elisa, Pannone, Luca, Andreoli, Cristina, Radio, Francesca Clementina, Pizzi, Simone, Carpentieri, Giovanna, Bruselles, Alessandro, Catanzaro, Giuseppina, Pedace, Lucia, Miele, Evelina, Carcarino, Elena, Ge, Xiaoyan, Chijiwa, Chieko, Lewis, M.E. Suzanne, Meuwissen, Marije, Kenis, Sandra, Van der Aa, Nathalie, Larson, Austin, Brown, Kathleen, Wasserstein, Melissa P., Skotko, Brian G., Begtrup, Amber, Person, Richard, Karayiorgou, Maria, Roos, J. Louw, Van Gassen, Koen L., Koopmans, Marije, Bijlsma, Emilia K., Santen, Gijs W.E., Barge-Schaapveld, Daniela Q.C.M., Ruivenkamp, Claudia A.L., Hoffer, Mariette J.V., Lalani, Seema R., Streff, Haley, Craigen, William J., Graham, Brett H., van den Elzen, Annette P.M., Kamphuis, Daan J., Õunap, Katrin, Reinson, Karit, Pajusalu, Sander, Wojcik, Monica H., Viberti, Clara, Di Gaetano, Cornelia, Bertini, Enrico, Petrucci, Simona, De Luca, Alessandro, Rota, Rossella, Ferretti, Elisabetta, Matullo, Giuseppe, Dallapiccola, Bruno, Sgura, Antonella, Walkiewicz, Magdalena, Kooy, R. Frank, Tartaglia, Marco

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Mutations of the histone linker H1–4 in neurodevelopmental disorders and functional characterization of neurons expressing C-terminus frameshift mutant H1.4 von Tremblay, Martine W, Green, Matthew V, Goldstein, Benjamin M, Aldridge, Andrew I, Rosenfeld, Jill A, Streff, Haley, Tan, Wendy D, Craigen, William, Bekheirnia, Nasim, Al Tala, Saeed, West, Anne E, Jiang, Yong-hui

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Brain malformations and seizures by impaired chaperonin function of TRiC von Kraft, Florian, Rodriguez-Aliaga, Piere, Yuan, Weimin, Franken, Lena, Zajt, Kamil, Hasan, Dimah, Lee, Ting-Ting, Flex, Elisabetta, Hentschel, Andreas, Innes, A Micheil, Zheng, Bixia, Julia Suh, Dong Sun, Knopp, Cordula, Lausberg, Eva, Krause, Jeremias, Zhang, Xiaomeng, Trapane, Pamela, Carroll, Riley, McClatchey, Martin, Fry, Andrew E, Wang, Lisa, Giesselmann, Sebastian, Hoang, Hieu, Baldridge, Dustin, Silverman, Gary A, Radio, Francesca Clementina, Bertini, Enrico, Ciolfi, Andrea, Blood, Katherine A, de Sainte Agathe, Jean-Madeleine, Charles, Perrine, Bergant, Gaber, Čuturilo, Goran, Peterlin, Borut, Diderich, Karin, Streff, Haley, Robak, Laurie, Oegema, Renske, van Binsbergen, Ellen, Herriges, John, Saunders, Carol J, Maier, Andrea, Wolking, Stefan, Weber, Yvonne, Lochmüller, Hanns, Meyer, Stefanie, Aleman, Alberto, Polavarapu, Kiran, Nicolas, Gael, Goldenberg, Alice, Guyant, Lucie, Pope, Kathleen, Hehmeyer, Katherine N, Monaghan, Kristin G, Quade, Annegret, Smol, Thomas, Caumes, Roseline, Duerinckx, Sarah, Depondt, Chantal, Van Paesschen, Wim, Rieubland, Claudine, Poloni, Claudia, Guipponi, Michel, Arcioni, Severine, Meuwissen, Marije, Jansen, Anna C, Rosenblum, Jessica, Haack, Tobias B, Bertrand, Miriam, Gerstner, Lea, Magg, Janine, Riess, Olaf, Schulz, Jörg B, Wagner, Norbert, Wiesmann, Martin, Weis, Joachim, Eggermann, Thomas, Begemann, Matthias, Roos, Andreas, Häusler, Martin, Schedl, Tim, Tartaglia, Marco, Bremer, Juliane, Pak, Stephen C, Frydman, Judith, Elbracht, Miriam, Kurth, Ingo

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Retrospective analysis of a clinical exome sequencing cohort reveals the mutational spectrum and identifies candidate disease–associated loci for BAFopathies von Chen, Chun-An, Lattier, John, Zhu, Wenmiao, Rosenfeld, Jill, Wang, Lei, Scott, Tiana M., Du, Haowei, Patel, Vipulkumar, Dang, Anh, Magoulas, Pilar, Streff, Haley, Sebastian, Jessica, Svihovec, Shayna, Curry, Kathryn, Delgado, Mauricio R., Hanchard, Neil A., Lalani, Seema, Marom, Ronit, Madan-Khetarpal, Suneeta, Saenz, Margarita, Dai, Hongzheng, Meng, Linyan, Xia, Fan, Bi, Weimin, Liu, Pengfei, Posey, Jennifer E., Scott, Daryl A., Lupski, James R., Eng, Christine M., Xiao, Rui, Yuan, Bo

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Improving access to exome sequencing in a medically underserved population through the Texome Project von Vuocolo, Blake, German, Ryan J., Lalani, Seema R., Murali, Chaya N., Bacino, Carlos A., Baskin, Stephanie, Littlejohn, Rebecca, Odom, John D., McLean, Scott, Schmid, Carrie, Nutter, Morgan, Stuebben, Melissa, Magness, Emily, Juarez, Olivia, El Achi, Dina, Mitchell, Bailey, Glinton, Kevin E., Robak, Laurie, Nagamani, Sandesh C.S., Saba, Lisa, Ritenour, Adasia, Zhang, Lilei, Streff, Haley, Chan, Katie, Kemere, K. Jordan, Carter, Kent, Mao, Dongxue, Kim, Seon Young, Pasupuleti, Sasidhar, Liu, Zhandong, Yamamoto, Shinya, Owen, Nichole, Vossaert, Liesbeth, Liu, Pengfei, Bellen, Hugo, Wangler, Michael F.

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De Novo ZMYND8 variants result in an autosomal dominant neurodevelopmental disorder with cardiac malformations von Dias, Kerith-Rae, Carlston, Colleen M., Blok, Laura E.R., De Hayr, Lachlan, Nawaz, Urwah, Evans, Carey-Anne, Bayrak-Toydemir, Pinar, Htun, Stephanie, Zhu, Ying, Ma, Alan, Lynch, Sally Ann, Moorwood, Catherine, Stals, Karen, Ellard, Sian, Bainbridge, Matthew N., Friedman, Jennifer, Pappas, John G., Rabin, Rachel, Nowak, Catherine B., Douglas, Jessica, Wilson, Theodore E., Guillen Sacoto, Maria J., Mullegama, Sureni V., Palculict, Timothy Blake, Kirk, Edwin P., Pinner, Jason R., Edwards, Matthew, Montanari, Francesca, Graziano, Claudio, Pippucci, Tommaso, Dingmann, Bri, Glass, Ian, Mefford, Heather C., Shimoji, Takeyoshi, Suzuki, Toshimitsu, Yamakawa, Kazuhiro, Streff, Haley, Schaaf, Christian P., Slavotinek, Anne M., Voineagu, Irina, Carey, John C., Buckley, Michael F., Schenck, Annette, Harvey, Robert J., Roscioli, Tony

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PPP3CA truncating variants clustered in the regulatory domain cause early‐onset refractory epilepsy von Panneerselvam, Sugi, Wang, Julia, Zhu, Wenmiao, Dai, Hongzheng, Pappas, John G., Rabin, Rachel, Low, Karen J., Rosenfeld, Jill A., Emrick, Lisa, Xiao, Rui, Xia, Fan, Yang, Yaping, Eng, Christine M., Anderson, Anne, Chau, Vann, Soler‐Alfonso, Claudia, Streff, Haley, Lalani, Seema R., Mercimek‐Andrews, Saadet, Bi, Weimin

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TSC1 Variant Associated With Mild or Absent Clinical Features of Tuberous Sclerosis Complex in a Three-Generation Family von Streff, Haley, Posey, Jennifer E, Mauer, Caitlin B, Krempely, Kate, Potocki, Lorraine, Northrup, Hope

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