A 9.8 Mb deletion at 7q31.2q31.31 downstream of FOXP2 in an individual with speech and language impairment suggests a possible positional effect von Iwata‐Otsubo, Aiko, Klee, Victoria H., Ahmad, Aaliya A., Walsh, Laurence E., Breman, Amy M.

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TNPO2 variants associate with human developmental delays, neurologic deficits, and dysmorphic features and alter TNPO2 activity in Drosophila von Goodman, Lindsey D., Cope, Heidi, Nil, Zelha, Ravenscroft, Thomas A., Charng, Wu-Lin, Lu, Shenzhao, Tien, An-Chi, Pfundt, Rolph, Koolen, David A., Haaxma, Charlotte A., Veenstra-Knol, Hermine E., Wassink-Ruiter, Jolien S. Klein, Wevers, Marijke R., Jones, Melissa, Walsh, Laurence E., Klee, Victoria H., Theunis, Miel, Legius, Eric, Steel, Dora, Barwick, Katy E.S., Kurian, Manju A., Mohammad, Shekeeb S., Dale, Russell C., Terhal, Paulien A., van Binsbergen, Ellen, Kirmse, Brian, Robinette, Bethany, Cogné, Benjamin, Isidor, Bertrand, Grebe, Theresa A., Kulch, Peggy, Hainline, Bryan E., Sapp, Katherine, Morava, Eva, Klee, Eric W., Macke, Erica L., Trapane, Pamela, Spencer, Christopher, Si, Yue, Begtrup, Amber, Moulton, Matthew J., Dutta, Debdeep, Kanca, Oguz, Wangler, Michael F., Yamamoto, Shinya, Bellen, Hugo J., Tan, Queenie K.-G.

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TNPO2 variants associate with human developmental delays, neurologic deficits, and dysmorphic features and alter TNPO2 activity in Drosophila von Goodman, Lindsey D, Cope, Heidi, Nil, Zelha, Ravenscroft, Thomas A, Charng, Wu-Lin, Lu, Shenzhao, Tien, An-Chi, Pfundt, Rolph, Koolen, David A, Haaxma, Charlotte A, Veenstra-Knol, Hermine E, Wassink-Ruiter, Jolien S. Klein, Wevers, Marijke R, Jones, Melissa, Walsh, Laurence E, Klee, Victoria H, Theunis, Miel, Legius, Eric, Steel, Dora, Barwick, Katy E.S, Kurian, Manju A, Mohammad, Shekeeb S, Dale, Russell C, Terhal, Paulien A, van Binsbergen, Ellen, Kirmse, Brian, Robinette, Bethany, Cogne, Benjamin, Isidor, Bertrand, Grebe, Theresa A, Kulch, Peggy, Hainline, Bryan E, Sapp, Katherine, Morava, Eva, Klee, Eric W, Macke, Erica L, Trapane, Pamela, Spencer, Christopher, Si, Yue, Begtrup, Amber, Moulton, Matthew J, Dutta, Debdeep, Kanca, Oguz, Wangler, Michael F, Yamamoto, Shinya, Bellen, Hugo J, Tan, Queenie K.-G

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De novo variants in FBXO11 cause a syndromic form of intellectual disability with behavioral problems and dysmorphisms von Jansen, Sandra, van der Werf, Ilse M, Innes, A Micheil, Afenjar, Alexandra, Agrawal, Pankaj B, Anderson, Ilse J, Atwal, Paldeep S, van Binsbergen, Ellen, van den Boogaard, Marie-José, Castiglia, Lucia, Coban-Akdemir, Zeynep H, van Dijck, Anke, Doummar, Diane, van Eerde, Albertien M, van Essen, Anthonie J, van Gassen, Koen L, Guillen Sacoto, Maria J, van Haelst, Mieke M, Iossifov, Ivan, Jackson, Jessica L, Judd, Elizabeth, Kaiwar, Charu, Keren, Boris, Klee, Eric W, Klein Wassink-Ruiter, Jolien S, Meuwissen, Marije E, Monaghan, Kristin G, de Munnik, Sonja A, Nava, Caroline, Ockeloen, Charlotte W, Pettinato, Rosa, Racher, Hilary, Rinne, Tuula, Romano, Corrado, Sanders, Victoria R, Schnur, Rhonda E, Smeets, Eric J, Stegmann, Alexander P A, Stray-Pedersen, Asbjørg, Sweetser, David A, Terhal, Paulien A, Tveten, Kristian, VanNoy, Grace E, de Vries, Petra F, Waxler, Jessica L, Willing, Marcia, Pfundt, Rolph, Veltman, Joris A, Kooy, R Frank, Vissers, Lisenka E L M, de Vries, Bert B A

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Harmonizing Clinical Sequencing and Interpretation for the eMERGE III Network von Venner, Eric, Muzny, Donna M., Abrams, Debra, Albertson-Junkans, Ladia, Ames, Darren C., Aronson, Samuel, Babb, Lawrence J., Balasubramanian, Adithya, Bastarache, Lisa, Behr, Meckenzie, Blout, Carrie, Bowser, Mark, Brilliant, Murray, Brodeur, Wendy, Caraballo, Pedro, Castro, Victor, Chisholm, Rex L., Chung, Wendy, Chute, Christopher G., City, Brittany, Connolly, John J., Crane, Paul, Crew, Katherine, De Andrade, Mariza, Denson, Shawn, Denny, Josh, DeSmet, Tim, Dikilitas, Ozan, Fullerton, Stephanie M., Gabriel, Stacey, Gainer, Vivian, Gharavi, Ali, Glazer, Andrew M., Goehringer, Jessica, Gordon, Adam S., Graham, Chet, Dayal, Jyoti, Hakonarson, Hakon, Harden, Maegan V., Harr, Margaret, Hayes, M. Geoffrey, Henrikson, Nora, Howell, Kayla M., Jiang, Yunyun, Joo, Yoonjung Yoonie, Justice, Anne E., Kalla, Sara E., Kalra, Divya, Kelly, Melissa A., Key, Dustin, Kiryluk, Krzysztof, Kullo, Iftikhar J., Larson, Eric B., Lin, Chiao-Feng, Linder, Jodell, Macbeth, Alyssa, Dinsmore, Michael J., Dodge, Sheila, Fasel, David, Fedotov, Alex, Feng, Qiping, McGowan, Michelle L., Meldrim, Jim, Mosley, Jonathan, Muniz, Jesse, Murdock, David R., Murugan, Mullai, Myers, Melanie F., Namjou, Bahram, Ni, Yizhao, Obeng, Aniwaa Owusu, Taylor, Casey Overby, Peterson, Josh F., Pratap, Siddharth, Prows, Cynthia A., Ralston, James D., Ramaprasan, Arvind, Rasmussen-Torvik, Laura, Schaid, Dan, Sengupta, Soumitra, Singh, Rajbir, Sleiman, Patrick M.A., Smoller, Jordan W., Stanaway, Ian B., Stroud, Mary, Tolwinski, Kasia, Van Driest, Sara L., Veenstra, David, Vicente, Gina, Wagner, Michael, Walunas, Theresa, Wells, Quinn, White, Peter S., Wiley, Ken L., Wilson, Michael W., Woolf, Betty, Yi, Victoria, Zhang, Ge, Zhang, Lan, Gibbs, Richard A.

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Defining the genotypic and phenotypic spectrum of X-linked MSL3-related disorder von Brunet, Theresa, McWalter, Kirsty, Mayerhanser, Katharina, Anbouba, Grace M., Armstrong-Javors, Amy, Bader, Ingrid, Baugh, Evan, Begtrup, Amber, Bupp, Caleb P., Callewaert, Bert L., Cereda, Anna, Cousin, Margot A., Del Rey Jimenez, Juan C., Demmer, Laurie, Dsouza, Nikita R., Fleischer, Nicole, Gavrilova, Ralitza H., Ghate, Sumedha, Graf, Elisabeth, Green, Andrew, Green, Sarah R., Iascone, Maria, Kdissa, Ameni, Klee, Dirk, Klee, Eric W., Lancaster, Emily, Lindstrom, Kristin, Mayr, Johannes A., McEntagart, Meriel, Meeks, Naomi J. L., Mittag, Dana, Moore, Harrison, Olsen, Anne K., Ortiz, Damara, Parsons, Gretchen, Pena, Loren D. M., Person, Richard E., Punj, Sumit, Ramos-Rivera, Gonzalo Alonso, Sacoto, Maria J. Guillen, Bradley Schaefer, G., Schnur, Rhonda E., Scott, Tiana M., Scott, Daryl A., Serbinski, Carolyn R., Shashi, Vandana, Siu, Victoria M., Stadheim, Barbro Fossøy, Sullivan, Jennifer A., Švantnerová, Jana, Velsher, Lea, Wargowski, David S., Wentzensen, Ingrid M., Wieczorek, Dagmar, Winkelmann, Juliane, Yap, Patrick, Zech, Michael, Zimmermann, Michael T., Meitinger, Thomas, Distelmaier, Felix, Wagner, Matias

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Defining the genotypic and phenotypic spectrum of X-linked MSL3-related disorder von Brunet, Theresa, McWalter, Kirsty, Mayerhanser, Katharina, Anbouba, Grace M, Armstrong-Javors, Amy, Bader, Ingrid, Baugh, Evan, Begtrup, Amber, Bupp, Caleb P, Callewaert, Bert, Cereda, Anna, Cousin, Margot A, Jimenez, Juan C. Del Rey, Demmer, Laurie, Dsouza, Nikita R, Fleischer, Nicole, Gavrilova, Ralitza H, Ghate, Sumedha, Graf, Elisabeth, Green, Andrew, Green, Sarah R, Iascone, Maria, Kdissa, Ameni, Klee, Dirk, Klee, Eric W, Lancaster, Emily, Lindstrom, Kristin, Mayr, Johannes A, McEntagart, Meriel, Meeks, Naomi J. L, Mittag, Dana, Moore, Harrison, Olsen, Anne K, Ortiz, Damara, Parsons, Gretchen, Pena, Loren D. M, Person, Richard E, Punj, Sumit, Ramos-Rivera, Gonzalo Alonso, Sacoto, Maria J. Guillen, Bradley Schaefer, G, Schnur, Rhonda E, Scott, Tiana M, Scott, Daryl A, Serbinski, Carolyn R, Shashi, Vandana, Siu, Victoria M, Stadheim, Barbro Fossoy, Sullivan, Jennifer A, Svantnerova, Jana, Velsher, Lea, Wargowski, David S, Wentzensen, Ingrid M, Wieczorek, Dagmar, Winkelmann, Juliane, Yap, Patrick, Zech, Michael, Zimmermann, Michael T, Meitinger, Thomas, Distelmaier, Felix, Wagner, Matias

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Defining the genotypic and phenotypic spectrum of X-linked MSL3-related disorder von Brunet, Theresa, McWalter, Kirsty, Mayerhanser, Katharina, Anbouba, Grace M, Armstrong-Javors, Amy, Bader, Ingrid, Baugh, Evan, Begtrup, Amber, Bupp, Caleb P, Callewaert, Bert L, Cereda, Anna, Cousin, Margot A, Jimenez, Juan C. Del Rey, Demmer, Laurie, Dsouza, Nikita R, Fleischer, Nicole, Gavrilova, Ralitza H, Ghate, Sumedha, Graf, Elisabeth, Green, Andrew, Green, Sarah R, Iascone, Maria, Kdissa, Ameni, Klee, Dirk, Klee, Eric W, Lancaster, Emily, Lindstrom, Kristin, Mayr, Johannes A, McEntagart, Meriel, Meeks, Naomi J. L, Mittag, Dana, Moore, Harrison, Olsen, Anne K, Ortiz, Damara, Parsons, Gretchen, Pena, Loren D. M, Person, Richard E, Punj, Sumit, Ramos-Rivera, Gonzalo Alonso, Sacoto, Maria J. Guillen, Bradley Schaefer, G, Schnur, Rhonda E, Scott, Tiana M, Scott, Daryl A, Serbinski, Carolyn R, Shashi, Vandana, Siu, Victoria M, Stadheim, Barbro Fossoy, Sullivan, Jennifer A, Svantnerova, Jana, Velsher, Lea, Wargowski, David S, Wentzensen, Ingrid M, Wieczorek, Dagmar, Winkelmann, Juliane, Yap, Patrick, Zech, Michael, Zimmermann, Michael T, Meitinger, Thomas, Distelmaier, Felix, Wagner, Matias

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