19 results on '"Reijnders, Margot R.F."'
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2. De novo missense variants in RRAGC lead to a fatal mTORopathy of early childhood
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Reijnders, Margot R.F., Seibt, Annette, Brugger, Melanie, Lamers, Ideke J.C., Ott, Torsten, Klaas, Oliver, Horváth, Judit, Rose, Ailsa M.S., Craghill, Isabel M., Brunet, Theresa, Graf, Elisabeth, Mayerhanser, Katharina, Hellebrekers, Debby, Pauck, David, Neuen-Jacob, Eva, Rodenburg, Richard J.T., Wieczorek, Dagmar, Klee, Dirk, Mayatepek, Ertan, Driessen, Gertjan, Bindermann, Robert, Averdunk, Luisa, Lohmeier, Klaus, Sinnema, Margje, Stegmann, Alexander P.A., Roepman, Ronald, Poulter, James A., and Distelmaier, Felix
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- 2023
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3. Partial Loss of USP9X Function Leads to a Male Neurodevelopmental and Behavioral Disorder Converging on Transforming Growth Factor β Signaling
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Pena, Loren, Shashi, Vandana, Schoch, Kelly, Sullivan, Jennifer A., Acosta, Maria T., Adams, David R., Aday, Aaron, Alejandro, Mercedes E., Allard, Patrick, Ashley, Euan A., Azamian, Mahshid S., Bacino, Carlos A., Bademci, Guney, Baker, Eva, Balasubramanyam, Ashok, Baldridge, Dustin, Barbouth, Deborah, Batzli, Gabriel F., Beggs, Alan H., Bellen, Hugo J., Bernstein, Jonathan A., Berry, Gerard T., Bican, Anna, Bick, David P., Birch, Camille L., Bivona, Stephanie, Bonnenmann, Carsten, Bonner, Devon, Boone, Braden E., Bostwick, Bret L., Briere, Lauren C., Brokamp, Elly, Brown, Donna M., Brush, Matthew, Burke, Elizabeth A., Burrage, Lindsay C., Butte, Manish J., Carrasquillo, Olveen, Peter Chang, Ta Chen, Chao, Hsiao-Tuan, Clark, Gary D., Coakley, Terra R., Cobban, Laurel A., Cogan, Joy D., Cole, F. Sessions, Colley, Heather A., Cooper, Cynthia M., Cope, Heidi, Craigen, William J., D'Souza, Precilla, Dasari, Surendra, Davids, Mariska, Davidson, Jean M., Dayal, Jyoti G., Dell'Angelica, Esteban C., Dhar, Shweta U., Dorrani, Naghmeh, Dorset, Daniel C., Douine, Emilie D., Draper, David D., Dries, Annika M., Duncan, Laura, Eckstein, David J., Emrick, Lisa T., Eng, Christine M., Enns, Gregory M., Esteves, Cecilia, Estwick, Tyra, Fernandez, Liliana, Ferreira, Carlos, Fieg, Elizabeth L., Fisher, Paul G., Fogel, Brent L., Forghani, Irman, Friedman, Noah D., Gahl, William A., Godfrey, Rena A., Goldman, Alica M., Goldstein, David B., Gourdine, Jean-Philippe F., Grajewski, Alana, Groden, Catherine A., Gropman, Andrea L., Haendel, Melissa, Hamid, Rizwan, Hanchard, Neil A., High, Frances, Holm, Ingrid A., Hom, Jason, Huang, Alden, Huang, Yong, Isasi, Rosario, Jamal, Fariha, Jiang, Yong-hui, Johnston, Jean M., Jones, Angela L., Karaviti, Lefkothea, Kelley, Emily G., Koeller, David M., Kohane, Isaac S., Kohler, Jennefer N., Krakow, Deborah, Krasnewich, Donna M., Korrick, Susan, Koziura, Mary, Krier, Joel B., Kyle, Jennifer E., Lalani, Seema R., Lam, Byron, Lanpher, Brendan C., Lanza, Ian R., Lau, C. Christopher, Lazar, Jozef, LeBlanc, Kimberly, Lee, Brendan H., Lee, Hane, Levitt, Roy, Levy, Shawn E., Lewis, Richard A., Lincoln, Sharyn A., Liu, Pengfei, Liu, Xue Zhong, Loo, Sandra K., Loscalzo, Joseph, Maas, Richard L., Macnamara, Ellen F., MacRae, Calum A., Maduro, Valerie V., Majcherska, Marta M., Malicdan, May Christine V., Mamounas, Laura A., Manolio, Teri A., Markello, Thomas C., Marom, Ronit, Martin, Martin G., Martínez-Agosto, Julian A., Marwaha, Shruti, May, Thomas, McCauley, Jacob, McConkie-Rosell, Allyn, McCormack, Colleen E., McCray, Alexa T., Merker, Jason D., Metz, Thomas O., Might, Matthew, Morava-Kozicz, Eva, Moretti, Paolo M., Morimoto, Marie, Mulvihill, John J., Murdock, David R., Nath, Avi, Nelson, Stan F., Newberry, J. Scott, Newman, John H., Nicholas, Sarah K., Novacic, Donna, Oglesbee, Devin, Orengo, James P., Pak, Stephen, Pallais, J. Carl, Palmer, Christina GS., Papp, Jeanette C., Parker, Neil H., Phillips, John A., III, Posey, Jennifer E., Postlethwait, John H., Potocki, Lorraine, Pusey, Barbara N., Renteri, Genecee, Reuter, Chloe M., Rives, Lynette, Robertson, Amy K., Rodan, Lance H., Rosenfeld, Jill A., Rowley, Robb K., Sacco, Ralph, Sampson, Jacinda B., Samson, Susan L., Saporta, Mario, Schaechter, Judy, Schedl, Timothy, Scott, Daryl A., Shakachite, Lisa, Sharma, Prashant, Shields, Kathleen, Shin, Jimann, Signer, Rebecca, Sillari, Catherine H., Silverman, Edwin K., Sinsheimer, Janet S., Smith, Kevin S., Solnica-Krezel, Lilianna, Spillmann, Rebecca C., Stoler, Joan M., Stong, Nicholas, Sweetser, David A., Tamburro, Cecelia P., Tan, Queenie K.-G., Tekin, Mustafa, Telischi, Fred, Thorson, Willa, Tifft, Cynthia J., Toro, Camilo, Tran, Alyssa A., Urv, Tiina K., Vogel, Tiphanie P., Waggott, Daryl M., Wahl, Colleen E., Walley, Nicole M., Walsh, Chris A., Walker, Melissa, Wambach, Jennifer, Wan, Jijun, Wang, Lee-kai, Wangler, Michael F., Ward, Patricia A., Waters, Katrina M., Webb-Robertson, Bobbie-Jo M., Wegner, Daniel, Westerfield, Monte, Wheeler, Matthew T., Wise, Anastasia L., Wolfe, Lynne A., Woods, Jeremy D., Worthey, Elizabeth A., Yamamoto, Shinya, Yang, John, Yoon, Amanda J., Yu, Guoyun, Zastrow, Diane B., Zhao, Chunli, Zuchner, Stephan, Gahl, William, Johnson, Brett V., Kumar, Raman, Oishi, Sabrina, Alexander, Suzy, Kasherman, Maria, Vega, Michelle Sanchez, Ivancevic, Atma, Gardner, Alison, Domingo, Deepti, Corbett, Mark, Parnell, Euan, Yoon, Sehyoun, Oh, Tracey, Lines, Matthew, Lefroy, Henrietta, Kini, Usha, Van Allen, Margot, Grønborg, Sabine, Mercier, Sandra, Küry, Sébastien, Bézieau, Stéphane, Pasquier, Laurent, Raynaud, Martine, Afenjar, Alexandra, Billette de Villemeur, Thierry, Keren, Boris, Désir, Julie, Van Maldergem, Lionel, Marangoni, Martina, Dikow, Nicola, Koolen, David A., VanHasselt, Peter M., Weiss, Marjan, Zwijnenburg, Petra, Sa, Joaquim, Reis, Claudia Falcao, López-Otín, Carlos, Santiago-Fernández, Olaya, Fernández-Jaén, Alberto, Rauch, Anita, Steindl, Katharina, Joset, Pascal, Goldstein, Amy, Madan-Khetarpal, Suneeta, Infante, Elena, Zackai, Elaine, Mcdougall, Carey, Narayanan, Vinodh, Ramsey, Keri, Mercimek-Andrews, Saadet, Pinto e Vairo, Filippo, Pichurin, Pavel N., Ewing, Sarah A., Barnett, Sarah S., Klee, Eric W., Perry, M. Scott, Koenig, Mary Kay, Keegan, Catherine E., Schuette, Jane L., Asher, Stephanie, Perilla-Young, Yezmin, Smith, Laurie D., Bhoj, Elizabeth, Kaplan, Paige, Li, Dong, Oegema, Renske, van Binsbergen, Ellen, van der Zwaag, Bert, Smeland, Marie Falkenberg, Cutcutache, Ioana, Page, Matthew, Armstrong, Martin, Lin, Angela E., Steeves, Marcie A., Hollander, Nicolette den, Hoffer, Mariëtte J.V., Reijnders, Margot R.F., Demirdas, Serwet, Koboldt, Daniel C., Bartholomew, Dennis, Mosher, Theresa Mihalic, Hickey, Scott E., Shieh, Christine, Sanchez-Lara, Pedro A., Graham, John M., Jr., Tezcan, Kamer, Schaefer, G.B., Danylchuk, Noelle R., Asamoah, Alexander, Jackson, Kelly E., Yachelevich, Naomi, Au, Margaret, Pérez-Jurado, Luis A., Kleefstra, Tjitske, Penzes, Peter, Wood, Stephen A., Burne, Thomas, Pierson, Tyler Mark, Piper, Michael, Gécz, Jozef, and Jolly, Lachlan A.
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- 2020
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4. B56δ-related protein phosphatase 2A dysfunction identified in patients with intellectual disability
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Houge, Gunnar, Haesen, Dorien, Vissers, Lisenka E.L.M., Mehta, Sarju, Parker, Michael J., Wright, Michael, Vogt, Julie, McKee, Shane, Tolmie, John L., Cordeiro, Nuno, Kleefstra, Tjitske, Willemsen, Marjolein H., Reijnders, Margot R.F., Berland, Siren, Hayman, Eli, Lahat, Eli, Brilstra, Eva H., van Gassen, Koen L.I., Zonneveld-Huijssoon, Evelien, de Bie, Charlotte I., Hoischen, Alexander, Eichler, Evan E., Holdhus, Rita, Steen, Vidar M., Døskeland, Stein Ove, Hurles, Matthew E., FitzPatrick, David R., and Janssens, Veerle
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- 2015
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5. Phenotypic spectrum and transcriptomic profile associated with germline variants in TRAF7
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Castilla-Vallmanya, Laura, primary, Selmer, Kaja K., additional, Dimartino, Clémantine, additional, Rabionet, Raquel, additional, Blanco-Sánchez, Bernardo, additional, Yang, Sandra, additional, Reijnders, Margot R.F., additional, van Essen, Antonie J., additional, Oufadem, Myriam, additional, Vigeland, Magnus D., additional, Stadheim, Barbro, additional, Houge, Gunnar, additional, Cox, Helen, additional, Kingston, Helen, additional, Clayton-Smith, Jill, additional, Innis, Jeffrey W., additional, Iascone, Maria, additional, Cereda, Anna, additional, Gabbiadini, Sara, additional, Chung, Wendy K., additional, Sanders, Victoria, additional, Charrow, Joel, additional, Bryant, Emily, additional, Millichap, John, additional, Vitobello, Antonio, additional, Thauvin, Christel, additional, Mau-Them, Frederic Tran, additional, Faivre, Laurence, additional, Lesca, Gaetan, additional, Labalme, Audrey, additional, Rougeot, Christelle, additional, Chatron, Nicolas, additional, Sanlaville, Damien, additional, Christensen, Katherine M., additional, Kirby, Amelia, additional, Lewandowski, Raymond, additional, Gannaway, Rachel, additional, Aly, Maha, additional, Lehman, Anna, additional, Clarke, Lorne, additional, Graul-Neumann, Luitgard, additional, Zweier, Christiane, additional, Lessel, Davor, additional, Lozic, Bernarda, additional, Aukrust, Ingvild, additional, Peretz, Ryan, additional, Stratton, Robert, additional, Smol, Thomas, additional, Dieux-Coëslier, Anne, additional, Meira, Joanna, additional, Wohler, Elizabeth, additional, Sobreira, Nara, additional, Beaver, Erin M., additional, Heeley, Jennifer, additional, Briere, Lauren C., additional, High, Frances A., additional, Sweetser, David A., additional, Walker, Melissa A., additional, Keegan, Catherine E., additional, Jayakar, Parul, additional, Shinawi, Marwan, additional, Kerstjens-Frederikse, Wilhelmina S., additional, Earl, Dawn L., additional, Siu, Victoria M., additional, Reesor, Emma, additional, Yao, Tony, additional, Hegele, Robert A., additional, Vaske, Olena M., additional, Rego, Shannon, additional, Shapiro, Kevin A., additional, Wong, Brian, additional, Gambello, Michael J., additional, McDonald, Marie, additional, Karlowicz, Danielle, additional, Colombo, Roberto, additional, Serretti, Alessandro, additional, Pais, Lynn, additional, O’Donnell-Luria, Anne, additional, Wray, Alison, additional, Sadedin, Simon, additional, Chong, Belinda, additional, Tan, Tiong Y., additional, Christodoulou, John, additional, White, Susan M., additional, Slavotinek, Anne, additional, Barbouth, Deborah, additional, Morel Swols, Dayna, additional, Parisot, Mélanie, additional, Bole-Feysot, Christine, additional, Nitschké, Patrick, additional, Pingault, Véronique, additional, Munnich, Arnold, additional, Cho, Megan T., additional, Cormier-Daire, Valérie, additional, Balcells, Susanna, additional, Lyonnet, Stanislas, additional, Grinberg, Daniel, additional, Amiel, Jeanne, additional, Urreizti, Roser, additional, and Gordon, Christopher T., additional
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- 2020
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6. Partial Loss of USP9X Function Leads to a Male Neurodevelopmental and Behavioral Disorder Converging on Transforming Growth Factor β Signaling
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Johnson, Brett V., primary, Kumar, Raman, additional, Oishi, Sabrina, additional, Alexander, Suzy, additional, Kasherman, Maria, additional, Vega, Michelle Sanchez, additional, Ivancevic, Atma, additional, Gardner, Alison, additional, Domingo, Deepti, additional, Corbett, Mark, additional, Parnell, Euan, additional, Yoon, Sehyoun, additional, Oh, Tracey, additional, Lines, Matthew, additional, Lefroy, Henrietta, additional, Kini, Usha, additional, Van Allen, Margot, additional, Grønborg, Sabine, additional, Mercier, Sandra, additional, Küry, Sébastien, additional, Bézieau, Stéphane, additional, Pasquier, Laurent, additional, Raynaud, Martine, additional, Afenjar, Alexandra, additional, Billette de Villemeur, Thierry, additional, Keren, Boris, additional, Désir, Julie, additional, Van Maldergem, Lionel, additional, Marangoni, Martina, additional, Dikow, Nicola, additional, Koolen, David A., additional, VanHasselt, Peter M., additional, Weiss, Marjan, additional, Zwijnenburg, Petra, additional, Sa, Joaquim, additional, Reis, Claudia Falcao, additional, López-Otín, Carlos, additional, Santiago-Fernández, Olaya, additional, Fernández-Jaén, Alberto, additional, Rauch, Anita, additional, Steindl, Katharina, additional, Joset, Pascal, additional, Goldstein, Amy, additional, Madan-Khetarpal, Suneeta, additional, Infante, Elena, additional, Zackai, Elaine, additional, Mcdougall, Carey, additional, Narayanan, Vinodh, additional, Ramsey, Keri, additional, Mercimek-Andrews, Saadet, additional, Pena, Loren, additional, Shashi, Vandana, additional, Schoch, Kelly, additional, Sullivan, Jennifer A., additional, Pinto e Vairo, Filippo, additional, Pichurin, Pavel N., additional, Ewing, Sarah A., additional, Barnett, Sarah S., additional, Klee, Eric W., additional, Perry, M. Scott, additional, Koenig, Mary Kay, additional, Keegan, Catherine E., additional, Schuette, Jane L., additional, Asher, Stephanie, additional, Perilla-Young, Yezmin, additional, Smith, Laurie D., additional, Rosenfeld, Jill A., additional, Bhoj, Elizabeth, additional, Kaplan, Paige, additional, Li, Dong, additional, Oegema, Renske, additional, van Binsbergen, Ellen, additional, van der Zwaag, Bert, additional, Smeland, Marie Falkenberg, additional, Cutcutache, Ioana, additional, Page, Matthew, additional, Armstrong, Martin, additional, Lin, Angela E., additional, Steeves, Marcie A., additional, Hollander, Nicolette den, additional, Hoffer, Mariëtte J.V., additional, Reijnders, Margot R.F., additional, Demirdas, Serwet, additional, Koboldt, Daniel C., additional, Bartholomew, Dennis, additional, Mosher, Theresa Mihalic, additional, Hickey, Scott E., additional, Shieh, Christine, additional, Sanchez-Lara, Pedro A., additional, Graham, John M., additional, Tezcan, Kamer, additional, Schaefer, G.B., additional, Danylchuk, Noelle R., additional, Asamoah, Alexander, additional, Jackson, Kelly E., additional, Yachelevich, Naomi, additional, Au, Margaret, additional, Pérez-Jurado, Luis A., additional, Kleefstra, Tjitske, additional, Penzes, Peter, additional, Wood, Stephen A., additional, Burne, Thomas, additional, Pierson, Tyler Mark, additional, Piper, Michael, additional, Gécz, Jozef, additional, Jolly, Lachlan A., additional, Acosta, Maria T., additional, Adams, David R., additional, Aday, Aaron, additional, Alejandro, Mercedes E., additional, Allard, Patrick, additional, Ashley, Euan A., additional, Azamian, Mahshid S., additional, Bacino, Carlos A., additional, Bademci, Guney, additional, Baker, Eva, additional, Balasubramanyam, Ashok, additional, Baldridge, Dustin, additional, Barbouth, Deborah, additional, Batzli, Gabriel F., additional, Beggs, Alan H., additional, Bellen, Hugo J., additional, Bernstein, Jonathan A., additional, Berry, Gerard T., additional, Bican, Anna, additional, Bick, David P., additional, Birch, Camille L., additional, Bivona, Stephanie, additional, Bonnenmann, Carsten, additional, Bonner, Devon, additional, Boone, Braden E., additional, Bostwick, Bret L., additional, Briere, Lauren C., additional, Brokamp, Elly, additional, Brown, Donna M., additional, Brush, Matthew, additional, Burke, Elizabeth A., additional, Burrage, Lindsay C., additional, Butte, Manish J., additional, Carrasquillo, Olveen, additional, Peter Chang, Ta Chen, additional, Chao, Hsiao-Tuan, additional, Clark, Gary D., additional, Coakley, Terra R., additional, Cobban, Laurel A., additional, Cogan, Joy D., additional, Cole, F. Sessions, additional, Colley, Heather A., additional, Cooper, Cynthia M., additional, Cope, Heidi, additional, Craigen, William J., additional, D'Souza, Precilla, additional, Dasari, Surendra, additional, Davids, Mariska, additional, Davidson, Jean M., additional, Dayal, Jyoti G., additional, Dell'Angelica, Esteban C., additional, Dhar, Shweta U., additional, Dorrani, Naghmeh, additional, Dorset, Daniel C., additional, Douine, Emilie D., additional, Draper, David D., additional, Dries, Annika M., additional, Duncan, Laura, additional, Eckstein, David J., additional, Emrick, Lisa T., additional, Eng, Christine M., additional, Enns, Gregory M., additional, Esteves, Cecilia, additional, Estwick, Tyra, additional, Fernandez, Liliana, additional, Ferreira, Carlos, additional, Fieg, Elizabeth L., additional, Fisher, Paul G., additional, Fogel, Brent L., additional, Forghani, Irman, additional, Friedman, Noah D., additional, Gahl, William A., additional, Godfrey, Rena A., additional, Goldman, Alica M., additional, Goldstein, David B., additional, Gourdine, Jean-Philippe F., additional, Grajewski, Alana, additional, Groden, Catherine A., additional, Gropman, Andrea L., additional, Haendel, Melissa, additional, Hamid, Rizwan, additional, Hanchard, Neil A., additional, High, Frances, additional, Holm, Ingrid A., additional, Hom, Jason, additional, Huang, Alden, additional, Huang, Yong, additional, Isasi, Rosario, additional, Jamal, Fariha, additional, Jiang, Yong-hui, additional, Johnston, Jean M., additional, Jones, Angela L., additional, Karaviti, Lefkothea, additional, Kelley, Emily G., additional, Koeller, David M., additional, Kohane, Isaac S., additional, Kohler, Jennefer N., additional, Krakow, Deborah, additional, Krasnewich, Donna M., additional, Korrick, Susan, additional, Koziura, Mary, additional, Krier, Joel B., additional, Kyle, Jennifer E., additional, Lalani, Seema R., additional, Lam, Byron, additional, Lanpher, Brendan C., additional, Lanza, Ian R., additional, Lau, C. Christopher, additional, Lazar, Jozef, additional, LeBlanc, Kimberly, additional, Lee, Brendan H., additional, Lee, Hane, additional, Levitt, Roy, additional, Levy, Shawn E., additional, Lewis, Richard A., additional, Lincoln, Sharyn A., additional, Liu, Pengfei, additional, Liu, Xue Zhong, additional, Loo, Sandra K., additional, Loscalzo, Joseph, additional, Maas, Richard L., additional, Macnamara, Ellen F., additional, MacRae, Calum A., additional, Maduro, Valerie V., additional, Majcherska, Marta M., additional, Malicdan, May Christine V., additional, Mamounas, Laura A., additional, Manolio, Teri A., additional, Markello, Thomas C., additional, Marom, Ronit, additional, Martin, Martin G., additional, Martínez-Agosto, Julian A., additional, Marwaha, Shruti, additional, May, Thomas, additional, McCauley, Jacob, additional, McConkie-Rosell, Allyn, additional, McCormack, Colleen E., additional, McCray, Alexa T., additional, Merker, Jason D., additional, Metz, Thomas O., additional, Might, Matthew, additional, Morava-Kozicz, Eva, additional, Moretti, Paolo M., additional, Morimoto, Marie, additional, Mulvihill, John J., additional, Murdock, David R., additional, Nath, Avi, additional, Nelson, Stan F., additional, Newberry, J. Scott, additional, Newman, John H., additional, Nicholas, Sarah K., additional, Novacic, Donna, additional, Oglesbee, Devin, additional, Orengo, James P., additional, Pak, Stephen, additional, Pallais, J. Carl, additional, Palmer, Christina GS., additional, Papp, Jeanette C., additional, Parker, Neil H., additional, Phillips, John A., additional, Posey, Jennifer E., additional, Postlethwait, John H., additional, Potocki, Lorraine, additional, Pusey, Barbara N., additional, Renteri, Genecee, additional, Reuter, Chloe M., additional, Rives, Lynette, additional, Robertson, Amy K., additional, Rodan, Lance H., additional, Rowley, Robb K., additional, Sacco, Ralph, additional, Sampson, Jacinda B., additional, Samson, Susan L., additional, Saporta, Mario, additional, Schaechter, Judy, additional, Schedl, Timothy, additional, Scott, Daryl A., additional, Shakachite, Lisa, additional, Sharma, Prashant, additional, Shields, Kathleen, additional, Shin, Jimann, additional, Signer, Rebecca, additional, Sillari, Catherine H., additional, Silverman, Edwin K., additional, Sinsheimer, Janet S., additional, Smith, Kevin S., additional, Solnica-Krezel, Lilianna, additional, Spillmann, Rebecca C., additional, Stoler, Joan M., additional, Stong, Nicholas, additional, Sweetser, David A., additional, Tamburro, Cecelia P., additional, Tan, Queenie K.-G., additional, Tekin, Mustafa, additional, Telischi, Fred, additional, Thorson, Willa, additional, Tifft, Cynthia J., additional, Toro, Camilo, additional, Tran, Alyssa A., additional, Urv, Tiina K., additional, Vogel, Tiphanie P., additional, Waggott, Daryl M., additional, Wahl, Colleen E., additional, Walley, Nicole M., additional, Walsh, Chris A., additional, Walker, Melissa, additional, Wambach, Jennifer, additional, Wan, Jijun, additional, Wang, Lee-kai, additional, Wangler, Michael F., additional, Ward, Patricia A., additional, Waters, Katrina M., additional, Webb-Robertson, Bobbie-Jo M., additional, Wegner, Daniel, additional, Westerfield, Monte, additional, Wheeler, Matthew T., additional, Wise, Anastasia L., additional, Wolfe, Lynne A., additional, Woods, Jeremy D., additional, Worthey, Elizabeth A., additional, Yamamoto, Shinya, additional, Yang, John, additional, Yoon, Amanda J., additional, Yu, Guoyun, additional, Zastrow, Diane B., additional, Zhao, Chunli, additional, Zuchner, Stephan, additional, and Gahl, William, additional
- Published
- 2020
- Full Text
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7. De Novo and Inherited Loss-of-Function Variants in TLK2: Clinical and Genotype-Phenotype Evaluation of a Distinct Neurodevelopmental Disorder
- Author
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Reijnders, Margot R.F., Miller, Kerry A., Alvi, Mohsan, Goos, Jacqueline A.C., Lees, Melissa M., de Burca, Anna, Henderson, Alex, Kraus, Alison, Mikat, Barbara, de Vries, Bert B.A., Isidor, Bertrand, Kerr, Bronwyn, Marcelis, Carlo, Schluth-Bolard, Caroline, Deshpande, Charu, Ruivenkamp, Claudia A.L., Wieczorek, Dagmar, Baralle, Diana, Blair, Edward M., Engels, Hartmut, Lüdecke, Hermann Josef, Eason, Jacqueline, Santen, Gijs W.E., Clayton-Smith, Jill, Chandler, Kate, Tatton-Brown, Katrina, Payne, Katelyn, Helbig, Katherine, Radtke, Kelly, Nugent, Kimberly M., Cremer, Kirsten, Strom, Tim M., Bird, Lynne M., Sinnema, Margje, Bitner-Glindzicz, Maria, van Dooren, Marieke F., Alders, Marielle, Koopmans, Marije, Brick, Lauren, Kozenko, Mariya, Harline, Megan L., Klaassens, Merel, Steinraths, Michelle, Cooper, Nicola S., Edery, Patrick, Yap, Patrick, Terhal, Paulien A., van der Spek, Peter J., Lakeman, Phillis, Taylor, Rachel L., The Deciphering Developmental Disorders Study, MUMC+: DA KG Polikliniek (9), Kindergeneeskunde, MUMC+: MA Medische Staf Kindergeneeskunde (9), MUMC+: DA KG Lab Centraal Lab (9), RS: GROW - R4 - Reproductive and Perinatal Medicine, Klinische Genetica, and MUMC+: DA Klinische Genetica (5)
- Subjects
Male ,RNA, Messenger/genetics ,Adult ,GENES ,Adolescent ,kinase ,Protein Kinases/genetics ,Neurodevelopmental Disorders/genetics ,Translocation, Genetic ,Cell Line ,Loss of Function Mutation/genetics ,Young Adult ,Genetics ,Humans ,Genetics(clinical) ,Child ,Genetic Association Studies ,Tousled-like ,Base Sequence ,TOUSLED-LIKE KINASES ,MUTATIONS ,Infant ,Facies ,haploinsufficiency ,Inheritance Patterns/genetics ,intellectual disability ,Child, Preschool ,Female ,facial averaging - Abstract
Next-generation sequencing is a powerful tool for the discovery of genes related to neurodevelopmental disorders (NDDs). Here, we report the identification of a distinct syndrome due to de novo or inherited heterozygous mutations in Tousled-like kinase 2 (TLK2) in 38 unrelated individuals and two affected mothers, using whole-exome and whole-genome sequencing technologies, matchmaker databases, and international collaborations. Affected individuals had a consistent phenotype, characterized by mild-borderline neurodevelopmental delay (86%), behavioral disorders (68%), severe gastro-intestinal problems (63%), and facial dysmorphism including blepharophimosis (82%), telecanthus (74%), prominent nasal bridge (68%), broad nasal tip (66%), thin vermilion of the upper lip (62%), and upslanting palpebral fissures (55%). Analysis of cell lines from three affected individuals showed that mutations act through a loss-of-function mechanism in at least two case subjects. Genotype-phenotype analysis and comparison of computationally modeled faces showed that phenotypes of these and other individuals with loss-of-function variants significantly overlapped with phenotypes of individuals with other variant types (missense and C-terminal truncating). This suggests that haploinsufficiency of TLK2 is the most likely underlying disease mechanism, leading to a consistent neurodevelopmental phenotype. This work illustrates the power of international data sharing, by the identification of 40 individuals from 26 different centers in 7 different countries, allowing the identification, clinical delineation, and genotype-phenotype evaluation of a distinct NDD caused by mutations in TLK2.
- Published
- 2018
8. A Recurrent De Novo PACS2 Heterozygous Missense Variant Causes Neonatal-Onset Developmental Epileptic Encephalopathy, Facial Dysmorphism, and Cerebellar Dysgenesis
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Olson, Heather, Jean-Marçais, Nolwenn, Yang, Edward, Héron, Delphine, Tatton-Brown, Katrina, van der Zwaag, Paul, Bijlsma, Emilia, Krock, Bryan, Backer, E., Kamsteeg, Erik-Jan, Sinnema, Margje, Reijnders, Margot R.F., Bearden, David, Begtrup, Amber, Telegrafi, Aida, Lunsing, Roelineke, Burglen, Lydie, Lesca, Gaetan, Cho, Megan, Smith, Lacey, Sheidley, Beth, Moufawad El Achkar, Christelle, Pearl, Phillip, Poduri, Annapurna, Skraban, Cara, Tarpinian, Jennifer, Nesbitt, Addie, Fransen van de Putte, Dietje, Ruivenkamp, Claudia A.L., Rump, Patrick, Chatron, Nicolas, Sabatier, Isabelle, De Bellescize, Julitta, Guibaud, Laurent, Sweetser, David, Waxler, Jessica, Wierenga, Klaas, DDD Study,, Donadieu, Jean, Narayanan, Vinodh, Ramsey, Keri, C4RCD Research Group,, Nava, Caroline, Rivière, Jean-Baptiste, Vitobello, Antonio, Tran Mau-Them, Frederic, Philippe, Christophe, Bruel, Ange-Line, Duffourd, Yannis, Thomas, Laurel, Lelieveld, Stefan, Schuurs-Hoeijmakers, Janneke, Brunner, Han, Keren, Boris, Thevenon, Julien, Faivre, Laurence, Thomas, Gary, Thauvin-Robinet, Christel, Department of Neurology, Children's Hospital [Boston], Boston Children's Hospital, Centre de génétique - Centre de référence des maladies rares, anomalies du développement et syndromes malformatifs (CHU de Dijon), Centre Hospitalier Universitaire de Dijon - Hôpital François Mitterrand (CHU Dijon), FHU TRANSLAD (CHU de Dijon), CHU Pitié-Salpêtrière [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), University Medical Center Groningen [Groningen] (UMCG), Department of Clinical Genetics (Leiden University Medical Center), Leiden University Medical Center (LUMC), Children’s Hospital of Philadelphia (CHOP ), GeneDx [Gaithersburg, MD, USA], Service de génétique et embryologie médicales [CHU Trousseau], CHU Trousseau [APHP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), GRC ConCer-LD, Université Pierre et Marie Curie - Paris 6 (UPMC), Service de Génétique [HCL Groupement Hospitalier Est], Groupement hospitalier Lyon-Est, Centre de recherche en neurosciences de Lyon (CRNL), Université Claude Bernard Lyon 1 (UCBL), Université de Lyon-Université de Lyon-Université Jean Monnet [Saint-Étienne] (UJM)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS), Department of Pathology and Laboratory Medicine [Philadelphia, PA, USA], University of Pennsylvania [Philadelphia]-Perelman School of Medicine, University of Pennsylvania [Philadelphia], Department of Clinical Genetics [Leiden, the Netherlands], Service de Neurologie Pédiatrique [CHU Lyon], Hôpital Femme Mère Enfant [CHU - HCL] (HFME), Hospices Civils de Lyon (HCL)-Hospices Civils de Lyon (HCL), Département d'Epilepsie, Sommeil et Neurophysiologie Pédiatrique [HCL, Lyon], Hospices Civils de Lyon (HCL), Service de Radiologie [Hôpital Femme Mère Enfant - HCL], Service d'hématologie-immunologie-oncologie pédiatrique [CHU Trousseau], Institut du Cerveau et de la Moëlle Epinière = Brain and Spine Institute (ICM), Institut National de la Santé et de la Recherche Médicale (INSERM)-CHU Pitié-Salpêtrière [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Sorbonne Université (SU)-Centre National de la Recherche Scientifique (CNRS), Equipe GAD (LNC - U1231), Lipides - Nutrition - Cancer [Dijon - U1231] (LNC), Université de Bourgogne (UB)-AgroSup Dijon - Institut National Supérieur des Sciences Agronomiques, de l'Alimentation et de l'Environnement-Institut National de la Santé et de la Recherche Médicale (INSERM)-Université de Bourgogne (UB)-AgroSup Dijon - Institut National Supérieur des Sciences Agronomiques, de l'Alimentation et de l'Environnement-Institut National de la Santé et de la Recherche Médicale (INSERM), Department ofMicrobiology and Molecular Genetics ( University of Pittsburgh), University of Pittsburgh (PITT), Pennsylvania Commonwealth System of Higher Education (PCSHE)-Pennsylvania Commonwealth System of Higher Education (PCSHE), Department of Human Genetics [Nijmegen], Radboud University Medical Center [Nijmegen], Radboud Institute for Molecular Life Sciences [Nijmegen, the Netherlands], Donders Institute for Brain, Cognition and Behaviour, Radboud university [Nijmegen], University of Pittsburgh Cancer Institute, MUMC+: DA KG Polikliniek (9), RS: GROW - R4 - Reproductive and Perinatal Medicine, Klinische Genetica, and MUMC+: DA Klinische Genetica (5)
- Subjects
Male ,0301 basic medicine ,Pathology ,PACS-2 ,Vesicular Transport Proteins ,PHENOTYPE ,Bioinformatics ,DISEASE ,Sensory disorders Donders Center for Medical Neuroscience [Radboudumc 12] ,Epilepsy ,0302 clinical medicine ,Missense mutation ,Global developmental delay ,Age of Onset ,Child ,Genetics (clinical) ,Epileptic encephalopathy ,APOPTOSIS ,3. Good health ,cerebellar dysgenesis ,Mutation, Missense/genetics ,intellectual disability ,Child, Preschool ,Epilepsy, Generalized ,Female ,PACS2 ,CLINICAL EPILEPSY ,medicine.medical_specialty ,Heterozygote ,Generalized/genetics ,PROTEINS ,Genetic counseling ,Mutation, Missense ,Missense/genetics ,Neonatal onset ,Biology ,DIAGNOSIS ,Vesicular Transport Proteins/genetics ,Facial dysmorphism ,03 medical and health sciences ,Dysgenesis ,All institutes and research themes of the Radboud University Medical Center ,Cerebellar Diseases ,Report ,MENDELIAN DISORDERS ,Genetics ,medicine ,Humans ,Generalized epilepsy ,Preschool ,Neurodevelopmental disorders Donders Center for Medical Neuroscience [Radboudumc 7] ,Cerebellar Diseases/genetics ,business.industry ,MUTATIONS ,Infant, Newborn ,Correction ,Infant ,Facies ,Newborn ,medicine.disease ,030104 developmental biology ,[SDV.GEN.GH]Life Sciences [q-bio]/Genetics/Human genetics ,Mutation ,epilepsy ,Autism ,business ,Epilepsy, Generalized/genetics ,030217 neurology & neurosurgery - Abstract
International audience; Developmental and epileptic encephalopathies (DEEs) represent a large clinical and genetic heterogeneous group of neurodevelopmental diseases. The identification of pathogenic genetic variants in DEEs remains crucial for deciphering this complex group and for accurately caring for affected individuals (clinical diagnosis, genetic counseling, impacting medical, precision therapy, clinical trials, etc.). Whole-exome sequencing and intensive data sharing identified a recurrent de novo PACS2 heterozygous missense variant in 14 unrelated individuals. Their phenotype was characterized by epilepsy, global developmental delay with or without autism, common cerebellar dysgenesis, and facial dysmorphism. Mixed focal and generalized epilepsy occurred in the neonatal period, controlled with difficulty in the first year, but many improved in early childhood. PACS2 is an important PACS1 paralog and encodes a multifunctional sorting protein involved in nuclear gene expression and pathway traffic regulation. Both proteins harbor cargo(furin)-binding regions (FBRs) that bind cargo proteins, sorting adaptors, and cellular kinase. Compared to the defined PACS1 recurrent variant series, individuals with PACS2 variant have more consistently neonatal/early-infantile-onset epilepsy that can be challenging to control. Cerebellar abnormalities may be similar but PACS2 individuals exhibit a pattern of clear dysgenesis ranging from mild to severe. Functional studies demonstrated that the PACS2 recurrent variant reduces the ability of the predicted autoregulatory domain to modulate the interaction between the PACS2 FBR and client proteins, which may disturb cellular function. These findings support the causality of this recurrent de novo PACS2 heterozygous missense in DEEs with facial dysmorphim and cerebellar dysgenesis.
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- 2018
9. De Novo and Inherited Pathogenic Variants in KDM3B Cause Intellectual Disability, Short Stature, and Facial Dysmorphism
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Diets, Illja J., primary, van der Donk, Roos, additional, Baltrunaite, Kristina, additional, Waanders, Esmé, additional, Reijnders, Margot R.F., additional, Dingemans, Alexander J.M., additional, Pfundt, Rolph, additional, Vulto-van Silfhout, Anneke T., additional, Wiel, Laurens, additional, Gilissen, Christian, additional, Thevenon, Julien, additional, Perrin, Laurence, additional, Afenjar, Alexandra, additional, Nava, Caroline, additional, Keren, Boris, additional, Bartz, Sarah, additional, Peri, Bethany, additional, Beunders, Gea, additional, Verbeek, Nienke, additional, van Gassen, Koen, additional, Thiffault, Isabelle, additional, Cadieux-Dion, Maxime, additional, Huerta-Saenz, Lina, additional, Wagner, Matias, additional, Konstantopoulou, Vassiliki, additional, Vodopiutz, Julia, additional, Griese, Matthias, additional, Boel, Annekatrien, additional, Callewaert, Bert, additional, Brunner, Han G., additional, Kleefstra, Tjitske, additional, Hoogerbrugge, Nicoline, additional, de Vries, Bert B.A., additional, Hwa, Vivian, additional, Dauber, Andrew, additional, Hehir-Kwa, Jayne Y., additional, Kuiper, Roland P., additional, and Jongmans, Marjolijn C.J., additional
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- 2019
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10. Recurrent De Novo Mutations Disturbing the GTP/GDP Binding Pocket of RAB11B Cause Intellectual Disability and a Distinctive Brain Phenotype
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Lamers, Ideke J.C., primary, Reijnders, Margot R.F., additional, Venselaar, Hanka, additional, Kraus, Alison, additional, Jansen, Sandra, additional, de Vries, Bert B.A., additional, Houge, Gunnar, additional, Gradek, Gyri Aasland, additional, Seo, Jieun, additional, Choi, Murim, additional, Chae, Jong-Hee, additional, van der Burgt, Ineke, additional, Pfundt, Rolph, additional, Letteboer, Stef J.F., additional, van Beersum, Sylvia E.C., additional, Dusseljee, Simone, additional, Brunner, Han G., additional, Doherty, Dan, additional, Kleefstra, Tjitske, additional, and Roepman, Ronald, additional
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- 2017
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11. De Novo Missense Mutations in DHX30 Impair Global Translation and Cause a Neurodevelopmental Disorder
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Lessel, Davor, primary, Schob, Claudia, additional, Küry, Sébastien, additional, Reijnders, Margot R.F., additional, Harel, Tamar, additional, Eldomery, Mohammad K., additional, Coban-Akdemir, Zeynep, additional, Denecke, Jonas, additional, Edvardson, Shimon, additional, Colin, Estelle, additional, Stegmann, Alexander P.A., additional, Gerkes, Erica H., additional, Tessarech, Marine, additional, Bonneau, Dominique, additional, Barth, Magalie, additional, Besnard, Thomas, additional, Cogné, Benjamin, additional, Revah-Politi, Anya, additional, Strom, Tim M., additional, Rosenfeld, Jill A., additional, Yang, Yaping, additional, Posey, Jennifer E., additional, Immken, LaDonna, additional, Oundjian, Nelly, additional, Helbig, Katherine L., additional, Meeks, Naomi, additional, Zegar, Kelsey, additional, Morton, Jenny, additional, Schieving, Jolanda H., additional, Claasen, Ana, additional, Huentelman, Matthew, additional, Narayanan, Vinodh, additional, Ramsey, Keri, additional, Brunner, Han G., additional, Elpeleg, Orly, additional, Mercier, Sandra, additional, Bézieau, Stéphane, additional, Kubisch, Christian, additional, Kleefstra, Tjitske, additional, Kindler, Stefan, additional, Lupski, James R., additional, and Kreienkamp, Hans-Jürgen, additional
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- 2017
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12. RAC1 Missense Mutations in Developmental Disorders with Diverse Phenotypes
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Reijnders, Margot R.F., primary, Ansor, Nurhuda M., additional, Kousi, Maria, additional, Yue, Wyatt W., additional, Tan, Perciliz L., additional, Clarkson, Katie, additional, Clayton-Smith, Jill, additional, Corning, Ken, additional, Jones, Julie R., additional, Lam, Wayne W.K., additional, Mancini, Grazia M.S., additional, Marcelis, Carlo, additional, Mohammed, Shehla, additional, Pfundt, Rolph, additional, Roifman, Maian, additional, Cohn, Ronald, additional, Chitayat, David, additional, Millard, Tom H., additional, Katsanis, Nicholas, additional, Brunner, Han G., additional, and Banka, Siddharth, additional
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- 2017
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13. De Novo Mutations in SON Disrupt RNA Splicing of Genes Essential for Brain Development and Metabolism, Causing an Intellectual-Disability Syndrome
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Kim, Jung-Hyun, primary, Shinde, Deepali N., additional, Reijnders, Margot R.F., additional, Hauser, Natalie S., additional, Belmonte, Rebecca L., additional, Wilson, Gregory R., additional, Bosch, Daniëlle G.M., additional, Bubulya, Paula A., additional, Shashi, Vandana, additional, Petrovski, Slavé, additional, Stone, Joshua K., additional, Park, Eun Young, additional, Veltman, Joris A., additional, Sinnema, Margje, additional, Stumpel, Connie T.R.M., additional, Draaisma, Jos M., additional, Nicolai, Joost, additional, Yntema, Helger G., additional, Lindstrom, Kristin, additional, de Vries, Bert B.A., additional, Jewett, Tamison, additional, Santoro, Stephanie L., additional, Vogt, Julie, additional, Bachman, Kristine K., additional, Seeley, Andrea H., additional, Krokosky, Alyson, additional, Turner, Clesson, additional, Rohena, Luis, additional, Hempel, Maja, additional, Kortüm, Fanny, additional, Lessel, Davor, additional, Neu, Axel, additional, Strom, Tim M., additional, Wieczorek, Dagmar, additional, Bramswig, Nuria, additional, Laccone, Franco A., additional, Behunova, Jana, additional, Rehder, Helga, additional, Gordon, Christopher T., additional, Rio, Marlène, additional, Romana, Serge, additional, Tang, Sha, additional, El-Khechen, Dima, additional, Cho, Megan T., additional, McWalter, Kirsty, additional, Douglas, Ganka, additional, Baskin, Berivan, additional, Begtrup, Amber, additional, Funari, Tara, additional, Schoch, Kelly, additional, Stegmann, Alexander P.A., additional, Stevens, Servi J.C., additional, Zhang, Dong-Er, additional, Traver, David, additional, Yao, Xu, additional, MacArthur, Daniel G., additional, Brunner, Han G., additional, Mancini, Grazia M., additional, Myers, Richard M., additional, Owen, Laurie B., additional, Lim, Ssang-Taek, additional, Stachura, David L., additional, Vissers, Lisenka E.L.M., additional, and Ahn, Eun-Young Erin, additional
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- 2016
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14. Meta-analysis of 2,104 trios provides support for 10 novel candidate genes for intellectual disability
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Lelieveld, Stefan H., primary, Reijnders, Margot R.F., additional, Pfundt, Rolph, additional, Yntema, Helger G., additional, Kamsteeg, Erik-Jan, additional, de Vries, Petra, additional, de Vries, Bert B.A., additional, Willemsen, Marjolein H., additional, Kleefstra, Tjitske, additional, Löhner, Katharina, additional, Vreeburg, Maaike, additional, Stevens, Servi, additional, van der Burgt, Ineke, additional, Bongers, Ernie M.H.F., additional, Stegmann, Alexander P.A., additional, Rump, Patrick, additional, Rinne, Tuula, additional, Nelen, Marcel R., additional, Veltman, Joris A., additional, Vissers, Lisenka E.L.M., additional, Brunner, Han G., additional, and Gilissen, Christian, additional
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- 2016
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15. De Novo Loss-of-Function Mutations in USP9X Cause a Female-Specific Recognizable Syndrome with Developmental Delay and Congenital Malformations
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Reijnders, Margot R.F., primary, Zachariadis, Vasilios, additional, Latour, Brooke, additional, Jolly, Lachlan, additional, Mancini, Grazia M., additional, Pfundt, Rolph, additional, Wu, Ka Man, additional, van Ravenswaaij-Arts, Conny M.A., additional, Veenstra-Knol, Hermine E., additional, Anderlid, Britt-Marie M., additional, Wood, Stephen A., additional, Cheung, Sau Wai, additional, Barnicoat, Angela, additional, Probst, Frank, additional, Magoulas, Pilar, additional, Brooks, Alice S., additional, Malmgren, Helena, additional, Harila-Saari, Arja, additional, Marcelis, Carlo M., additional, Vreeburg, Maaike, additional, Hobson, Emma, additional, Sutton, V. Reid, additional, Stark, Zornitza, additional, Vogt, Julie, additional, Cooper, Nicola, additional, Lim, Jiin Ying, additional, Price, Sue, additional, Lai, Angeline Hwei Meeng, additional, Domingo, Deepti, additional, Reversade, Bruno, additional, Gecz, Jozef, additional, Gilissen, Christian, additional, Brunner, Han G., additional, Kini, Usha, additional, Roepman, Ronald, additional, Nordgren, Ann, additional, and Kleefstra, Tjitske, additional
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- 2016
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16. TRIOloss of function is associated with mild intellectual disability and affects dendritic branching and synapse function
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Ba, Wei, primary, Yan, Yan, additional, Reijnders, Margot R.F., additional, Schuurs-Hoeijmakers, Janneke H.M., additional, Feenstra, Ilse, additional, Bongers, Ernie M.H.F., additional, Bosch, Daniëlle G.M., additional, De Leeuw, Nicole, additional, Pfundt, Rolph, additional, Gilissen, Christian, additional, De Vries, Petra F., additional, Veltman, Joris A., additional, Hoischen, Alexander, additional, Mefford, Heather C., additional, Eichler, Evan E., additional, Vissers, Lisenka E.L.M., additional, Nadif Kasri, Nael, additional, and De Vries, Bert B.A., additional
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- 2015
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17. De novo missense variants in RRAGClead to a fatal mTORopathy of early childhood
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Reijnders, Margot R.F., Seibt, Annette, Brugger, Melanie, Lamers, Ideke J.C., Ott, Torsten, Klaas, Oliver, Horváth, Judit, Rose, Ailsa M.S., Craghill, Isabel M., Brunet, Theresa, Graf, Elisabeth, Mayerhanser, Katharina, Hellebrekers, Debby, Pauck, David, Neuen-Jacob, Eva, Rodenburg, Richard J.T., Wieczorek, Dagmar, Klee, Dirk, Mayatepek, Ertan, Driessen, Gertjan, Bindermann, Robert, Averdunk, Luisa, Lohmeier, Klaus, Sinnema, Margje, Stegmann, Alexander P.A., Roepman, Ronald, Poulter, James A., and Distelmaier, Felix
- Abstract
Mechanistic target of rapamycin (mTOR) complex 1 (mTORC1) regulates cell growth in response to nutritional status. Central to the mTORC1 function is the Rag-GTPase heterodimer. One component of the Rag heterodimer is RagC (Ras-related GTP-binding protein C), which is encoded by the RRAGCgene.
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- 2023
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18. Mutations in DDX3X Are a Common Cause of Unexplained Intellectual Disability with Gender-Specific Effects on Wnt Signaling
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Snijders Blok, Lot, primary, Madsen, Erik, additional, Juusola, Jane, additional, Gilissen, Christian, additional, Baralle, Diana, additional, Reijnders, Margot R.F., additional, Venselaar, Hanka, additional, Helsmoortel, Céline, additional, Cho, Megan T., additional, Hoischen, Alexander, additional, Vissers, Lisenka E.L.M., additional, Koemans, Tom S., additional, Wissink-Lindhout, Willemijn, additional, Eichler, Evan E., additional, Romano, Corrado, additional, Van Esch, Hilde, additional, Stumpel, Connie, additional, Vreeburg, Maaike, additional, Smeets, Eric, additional, Oberndorff, Karin, additional, van Bon, Bregje W.M., additional, Shaw, Marie, additional, Gecz, Jozef, additional, Haan, Eric, additional, Bienek, Melanie, additional, Jensen, Corinna, additional, Loeys, Bart L., additional, Van Dijck, Anke, additional, Innes, A. Micheil, additional, Racher, Hilary, additional, Vermeer, Sascha, additional, Di Donato, Nataliya, additional, Rump, Andreas, additional, Tatton-Brown, Katrina, additional, Parker, Michael J., additional, Henderson, Alex, additional, Lynch, Sally A., additional, Fryer, Alan, additional, Ross, Alison, additional, Vasudevan, Pradeep, additional, Kini, Usha, additional, Newbury-Ecob, Ruth, additional, Chandler, Kate, additional, Male, Alison, additional, Dijkstra, Sybe, additional, Schieving, Jolanda, additional, Giltay, Jacques, additional, van Gassen, Koen L.I., additional, Schuurs-Hoeijmakers, Janneke, additional, Tan, Perciliz L., additional, Pediaditakis, Igor, additional, Haas, Stefan A., additional, Retterer, Kyle, additional, Reed, Patrick, additional, Monaghan, Kristin G., additional, Haverfield, Eden, additional, Natowicz, Marvin, additional, Myers, Angela, additional, Kruer, Michael C., additional, Stein, Quinn, additional, Strauss, Kevin A., additional, Brigatti, Karlla W., additional, Keating, Katherine, additional, Burton, Barbara K., additional, Kim, Katherine H., additional, Charrow, Joel, additional, Norman, Jennifer, additional, Foster-Barber, Audrey, additional, Kline, Antonie D., additional, Kimball, Amy, additional, Zackai, Elaine, additional, Harr, Margaret, additional, Fox, Joyce, additional, McLaughlin, Julie, additional, Lindstrom, Kristin, additional, Haude, Katrina M., additional, van Roozendaal, Kees, additional, Brunner, Han, additional, Chung, Wendy K., additional, Kooy, R. Frank, additional, Pfundt, Rolph, additional, Kalscheuer, Vera, additional, Mehta, Sarju G., additional, Katsanis, Nicholas, additional, and Kleefstra, Tjitske, additional
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- 2015
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19. Chromosomal aberrations in cerebral visual impairment
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Bosch, Daniëlle G.M., primary, Boonstra, F. Nienke, additional, Reijnders, Margot R.F., additional, Pfundt, Rolph, additional, Cremers, Frans P.M., additional, and de Vries, Bert B.A., additional
- Published
- 2014
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