Author: "van Gassen, Koen L.I." / Publication Year Range: Last 10 years - Searchworks@Jio Institute Digital Library Search Results

Your search keyword '"van Gassen, Koen L.I."' showing total 99 results

Start Over Author "van Gassen, Koen L.I." Publication Year Range Last 10 years

99 results on '"van Gassen, Koen L.I."'

1. Large-scale genomic investigation of pediatric cholestasis reveals a novel hepatorenal ciliopathy caused by PSKH1 mutations

Author: Maddirevula, Sateesh, Shagrani, Mohammad, Ji, Ae-Ri, Horne, Christopher R., Young, Samuel N., Mather, Lucy J., Alqahtani, Mashael, McKerlie, Colin, Wood, Geoffrey, Potter, Paul K., Abdulwahab, Firdous, AlSheddi, Tarfa, van der Woerd, Wendy L., van Gassen, Koen L.I., AlBogami, Dalal, Kumar, Kishwer, Muhammad Akhtar, Ali Syed, Binomar, Hiba, Almanea, Hadeel, Faqeih, Eissa, Fuchs, Sabine A., Scott, John W., Murphy, James M., and Alkuraya, Fowzan S.
Published: 2024
Full Text: View/download PDF

2. Comprehensive EHMT1 variants analysis broadens genotype-phenotype associations and molecular mechanisms in Kleefstra syndrome

Author: Rots, Dmitrijs, Bouman, Arianne, Yamada, Ayumi, Levy, Michael, Dingemans, Alexander J.M., de Vries, Bert B.A., Ruiterkamp-Versteeg, Martina, de Leeuw, Nicole, Ockeloen, Charlotte W., Pfundt, Rolph, de Boer, Elke, Kummeling, Joost, van Bon, Bregje, van Bokhoven, Hans, Kasri, Nael Nadif, Venselaar, Hanka, Alders, Marielle, Kerkhof, Jennifer, McConkey, Haley, Kuechler, Alma, Elffers, Bart, van Beeck Calkoen, Rixje, Hofman, Susanna, Smith, Audrey, Valenzuela, Maria Irene, Srivastava, Siddharth, Frazier, Zoe, Maystadt, Isabelle, Piscopo, Carmelo, Merla, Giuseppe, Balasubramanian, Meena, Santen, Gijs W.E., Metcalfe, Kay, Park, Soo-Mi, Pasquier, Laurent, Banka, Siddharth, Donnai, Dian, Weisberg, Daniel, Strobl-Wildemann, Gertrud, Wagemans, Annemieke, Vreeburg, Maaike, Baralle, Diana, Foulds, Nicola, Scurr, Ingrid, Brunetti-Pierri, Nicola, van Hagen, Johanna M., Bijlsma, Emilia K., Hakonen, Anna H., Courage, Carolina, Genevieve, David, Pinson, Lucile, Forzano, Francesca, Deshpande, Charu, Kluskens, Maria L., Welling, Lindsey, Plomp, Astrid S., Vanhoutte, Els K., Kalsner, Louisa, Hol, Janna A., Putoux, Audrey, Lazier, Johanna, Vasudevan, Pradeep, Ames, Elizabeth, O'Shea, Jessica, Lederer, Damien, Fleischer, Julie, O'Connor, Mary, Pauly, Melissa, Vasileiou, Georgia, Reis, André, Kiraly-Borri, Catherine, Bouman, Arjan, Barnett, Chris, Nezarati, Marjan, Borch, Lauren, Beunders, Gea, Özcan, Kübra, Miot, Stéphanie, Volker-Touw, Catharina M.L., van Gassen, Koen L.I., Cappuccio, Gerarda, Janssens, Katrien, Mor, Nofar, Shomer, Inna, Dominissini, Dan, Tedder, Matthew L., Muir, Alison M., Sadikovic, Bekim, Brunner, Han G., Vissers, Lisenka E.L.M., Shinkai, Yoichi, and Kleefstra, Tjitske
Published: 2024
Full Text: View/download PDF

3. Etiological involvement of KCND1 variants in an X-linked neurodevelopmental disorder with variable expressivity

Author: Kalm, Tassja, Schob, Claudia, Völler, Hanna, Gardeitchik, Thatjana, Gilissen, Christian, Pfundt, Rolph, Klöckner, Chiara, Platzer, Konrad, Klabunde-Cherwon, Annick, Ries, Markus, Syrbe, Steffen, Beccaria, Francesca, Madia, Francesca, Scala, Marcello, Zara, Federico, Hofstede, Floris, Simon, Marleen E.H., van Jaarsveld, Richard H., Oegema, Renske, van Gassen, Koen L.I., Holwerda, Sjoerd J.B., Barakat, Tahsin Stefan, Bouman, Arjan, van Slegtenhorst, Marjon, Álvarez, Sara, Fernández-Jaén, Alberto, Porta, Javier, Accogli, Andrea, Mancardi, Margherita Maria, Striano, Pasquale, Iacomino, Michele, Chae, Jong-Hee, Jang, SeSong, Kim, Soo Y., Chitayat, David, Mercimek-Andrews, Saadet, Depienne, Christel, Kampmeier, Antje, Kuechler, Alma, Surowy, Harald, Bertini, Enrico Silvio, Radio, Francesca Clementina, Mancini, Cecilia, Pizzi, Simone, Tartaglia, Marco, Gauthier, Lucas, Genevieve, David, Tharreau, Mylène, Azoulay, Noy, Zaks-Hoffer, Gal, Gilad, Nesia K., Orenstein, Naama, Bernard, Geneviève, Thiffault, Isabelle, Denecke, Jonas, Herget, Theresia, Kortüm, Fanny, Kubisch, Christian, Bähring, Robert, and Kindler, Stefan
Published: 2024
Full Text: View/download PDF

4. De novo missense variants in phosphatidylinositol kinase PIP5KIγ underlie a neurodevelopmental syndrome associated with altered phosphoinositide signaling

Author: Acosta, Maria T., Adam, Margaret, Adams, David R., Alvarez, Raquel L., Alvey, Justin, Amendola, Laura, Andrews, Ashley, Ashley, Euan A., Bacino, Carlos A., Bademci, Guney, Balasubramanyam, Ashok, Baldridge, Dustin, Bale, Jim, Bamshad, Michael, Barbouth, Deborah, Bayrak-Toydemir, Pinar, Beck, Anita, Beggs, Alan H., Behrens, Edward, Bejerano, Gill, Bellen, Hugo J., Bennett, Jimmy, Berg-Rood, Beverly, Bernstein, Jonathan A., Berry, Gerard T., Bican, Anna, Bivona, Stephanie, Blue, Elizabeth, Bohnsack, John, Bonner, Devon, Botto, Lorenzo, Boyd, Brenna, Briere, Lauren C., Brown, Gabrielle, Burke, Elizabeth A., Burrage, Lindsay C., Butte, Manish J., Byers, Peter, Byrd, William E., Carey, John, Carrasquillo, Olveen, Cassini, Thomas, Chang, Ta Chen Peter, Chanprasert, Sirisak, Chao, Hsiao-Tuan, Clark, Gary D., Coakley, Terra R., Cobban, Laurel A., Cogan, Joy D., Coggins, Matthew, Cole, F. Sessions, Colley, Heather A., Cooper, Cynthia M., Cope, Heidi, Corona, Rosario, Craigen, William J., Crouse, Andrew B., Cunningham, Michael, D’Souza, Precilla, Dai, Hongzheng, Dasari, Surendra, Davis, Joie, Dayal, Jyoti G., Dell'Angelica, Esteban C., Dipple, Katrina, Doherty, Daniel, Dorrani, Naghmeh, Doss, Argenia L., Douine, Emilie D., Earl, Dawn, Eckstein, David J., Emrick, Lisa T., Eng, Christine M., Falk, Marni, Fieg, Elizabeth L., Fisher, Paul G., Fogel, Brent L., Forghani, Irman, Gahl, William A., Glass, Ian, Gochuico, Bernadette, Goddard, Page C., Godfrey, Rena A., Golden-Grant, Katie, Grajewski, Alana, Hadley, Don, Hahn, Sihoun, Halley, Meghan C., Hamid, Rizwan, Hassey, Kelly, Hayes, Nichole, High, Frances, Hing, Anne, Hisama, Fuki M., Holm, Ingrid A., Hom, Jason, Horike-Pyne, Martha, Huang, Alden, Hutchison, Sarah, Introne, Wendy, Isasi, Rosario, Izumi, Kosuke, Jamal, Fariha, Jarvik, Gail P., Jarvik, Jeffrey, Jayadev, Suman, Jean-Marie, Orpa, Jobanputra, Vaidehi, Karaviti, Lefkothea, Ketkar, Shamika, Kiley, Dana, Kilich, Gonench, Kobren, Shilpa N., Kohane, Isaac S., Kohler, Jennefer N., Korrick, Susan, Kozuira, Mary, Krakow, Deborah, Krasnewich, Donna M., Kravets, Elijah, Lalani, Seema R., Lam, Byron, Lam, Christina, Lanpher, Brendan C., Lanza, Ian R., LeBlanc, Kimberly, Lee, Brendan H., Levitt, Roy, Lewis, Richard A., Liu, Pengfei, Liu, Xue Zhong, Longo, Nicola, Loo, Sandra K., Loscalzo, Joseph, Maas, Richard L., Macnamara, Ellen F., MacRae, Calum A., Maduro, Valerie V., Maghiro, AudreyStephannie, Mahoney, Rachel, Malicdan, May Christine V., Mamounas, Laura A., Manolio, Teri A., Mao, Rong, Maravilla, Kenneth, Marom, Ronit, Marth, Gabor, Martin, Beth A., Martin, Martin G., Martínez-Agosto, Julian A., Marwaha, Shruti, McCauley, Jacob, McConkie-Rosell, Allyn, McCray, Alexa T., McGee, Elisabeth, Mefford, Heather, Merritt, J. Lawrence, Might, Matthew, Mirzaa, Ghayda, Morava, Eva, Moretti, Paolo, Mulvihill, John, Nakano-Okuno, Mariko, Nelson, Stanley F., Newman, John H., Nicholas, Sarah K., Nickerson, Deborah, Nieves-Rodriguez, Shirley, Novacic, Donna, Oglesbee, Devin, Orengo, James P., Pace, Laura, Pak, Stephen, Pallais, J. Carl, Palmer, Christina G.S., Papp, Jeanette C., Parker, Neil H., Phillips III, John A., Posey, Jennifer E., Potocki, Lorraine, Pusey Swerdzewski, Barbara N., Quinlan, Aaron, Rao, Deepak A., Raper, Anna, Raskind, Wendy, Renteria, Genecee, Reuter, Chloe M., Rives, Lynette, Robertson, Amy K., Rodan, Lance H., Rosenfeld, Jill A., Rosenwasser, Natalie, Rossignol, Francis, Ruzhnikov, Maura, Sacco, Ralph, Sampson, Jacinda B., Saporta, Mario, Schaechter, Judy, Schedl, Timothy, Schoch, Kelly, Scott, Daryl A., Scott, C. Ron, Shashi, Vandana, Shin, Jimann, Silverman, Edwin K., Sinsheimer, Janet S., Sisco, Kathy, Smith, Edward C., Smith, Kevin S., Solnica-Krezel, Lilianna, Solomon, Ben, Spillmann, Rebecca C., Stoler, Joan M., Sullivan, Kathleen, Sullivan, Jennifer A., Sun, Angela, Sutton, Shirley, Sweetser, David A., Sybert, Virginia, Tabor, Holly K., Tan, Queenie K.-G., Tan, Amelia L.M., Tekin, Mustafa, Telischi, Fred, Thorson, Willa, Tifft, Cynthia J., Toro, Camilo, Tran, Alyssa A., Ungar, Rachel A., Urv, Tiina K., Vanderver, Adeline, Velinder, Matt, Viskochil, Dave, Vogel, Tiphanie P., Wahl, Colleen E., Walker, Melissa, Wallace, Stephanie, Walley, Nicole M., Wambach, Jennifer, Wan, Jijun, Wang, Lee-kai, Wangler, Michael F., Ward, Patricia A., Wegner, Daniel, Weisz Hubshman, Monika, Wener, Mark, Wenger, Tara, Westerfield, Monte, Wheeler, Matthew T., Whitlock, Jordan, Wolfe, Lynne A., Worley, Kim, Xiao, Changrui, Yamamoto, Shinya, Yang, John, Zhang, Zhe, Zuchner, Stephan, Nigro, Vincenzo, Torella, Annalaura, Morleo, Manuela, Spampanato, Carmine, Pinelli, Michele, Banfi, Sandro, Varavallo, Alessandra, Selicorni, Angelo, Mariani, Milena, Massimello, Marta, Daolio, Cecilia, Capra, Valeria, Accogli, Andrea, Scala, Marcello, Leuzzi, Vincenzo, Nardecchia, Francesca, Galosi, Serena, Mastrangelo, Mario, Milani, Donatella, Vitiello, Giuseppina, Piluso, Giulio, Romano, Corrado, Failla, Pinella, Greco, Donatella, Pantaleoni, Chiara, Ciaccio, Claudia, D’Arrigo, Stefano, Brunetti Pierri, Nicola, Parenti, Giancarlo, Coppola, Antonietta, Mattina, Teresa, Zollino, Marcella, Amenta, Simona, Tummolo, Albina, Santoro, Claudia, Grandone, Anna, De Brasi, Daniele, Varone, Antonio, Garavelli, Livia, Marini, Carla, Bigoni, Stefania, Piscopo, Carmelo, Trabacca, Antonio, De Rinaldis, Marta, Peron, Angela, Venditti, Rossella, Theodorou, Evangelos, Rosello, Marion, Tirozzi, Alfonsina, Tammaro, Roberta, Al-Badri, Nour, High, Frances A., Shi, Jiahai, Putti, Elena, Ferrante, Luigi, Cetrangolo, Viviana, Walker, Melissa A., Tenconi, Romano, Iascone, Maria, Mei, Davide, Guerrini, Renzo, van der Smagt, Jasper, Kroes, Hester Y., van Gassen, Koen L.I., Bilal, Muhammad, Umair, Muhammad, Pingault, Veronica, Attie-Bitach, Tania, Amiel, Jeannine, Ejaz, Resham, Rodan, Lance, Agrawal, Pankaj B., Del Bene, Filippo, and Franco, Brunella
Published: 2023
Full Text: View/download PDF

5. Comprehensive EHMT1 variants analysis broadens genotype-phenotype associations and molecular mechanisms in Kleefstra syndrome

Author: Genetica, Genetica Klinische Genetica, Genetica Sectie Genoomdiagnostiek, Child Health, Rots, Dmitrijs, Bouman, Arianne, Yamada, Ayumi, Levy, Michael, Dingemans, Alexander J.M., de Vries, Bert B.A., Ruiterkamp-Versteeg, Martina, de Leeuw, Nicole, Ockeloen, Charlotte W., Pfundt, Rolph, de Boer, Elke, Kummeling, Joost, van Bon, Bregje, van Bokhoven, Hans, Kasri, Nael Nadif, Venselaar, Hanka, Alders, Marielle, Kerkhof, Jennifer, McConkey, Haley, Kuechler, Alma, Elffers, Bart, van Beeck Calkoen, Rixje, Hofman, Susanna, Smith, Audrey, Valenzuela, Maria Irene, Srivastava, Siddharth, Frazier, Zoe, Maystadt, Isabelle, Piscopo, Carmelo, Merla, Giuseppe, Balasubramanian, Meena, Santen, Gijs W.E., Metcalfe, Kay, Park, Soo Mi, Pasquier, Laurent, Banka, Siddharth, Donnai, Dian, Weisberg, Daniel, Strobl-Wildemann, Gertrud, Wagemans, Annemieke, Vreeburg, Maaike, Baralle, Diana, Foulds, Nicola, Scurr, Ingrid, Brunetti-Pierri, Nicola, van Hagen, Johanna M., Bijlsma, Emilia K., Hakonen, Anna H., Courage, Carolina, Genevieve, David, Pinson, Lucile, Forzano, Francesca, Deshpande, Charu, Kluskens, Maria L., Welling, Lindsey, Plomp, Astrid S., Vanhoutte, Els K., Kalsner, Louisa, Hol, Janna A., Putoux, Audrey, Lazier, Johanna, Vasudevan, Pradeep, Ames, Elizabeth, O'Shea, Jessica, Lederer, Damien, Fleischer, Julie, O'Connor, Mary, Pauly, Melissa, Vasileiou, Georgia, Reis, André, Kiraly-Borri, Catherine, Bouman, Arjan, Barnett, Chris, Nezarati, Marjan, Borch, Lauren, Beunders, Gea, Özcan, Kübra, Miot, Stéphanie, Volker-Touw, Catharina M.L., van Gassen, Koen L.I., Cappuccio, Gerarda, Janssens, Katrien, Mor, Nofar, Shomer, Inna, Dominissini, Dan, Tedder, Matthew L., Muir, Alison M., Sadikovic, Bekim, Brunner, Han G., Vissers, Lisenka E.L.M., Shinkai, Yoichi, Kleefstra, Tjitske, Genetica, Genetica Klinische Genetica, Genetica Sectie Genoomdiagnostiek, Child Health, Rots, Dmitrijs, Bouman, Arianne, Yamada, Ayumi, Levy, Michael, Dingemans, Alexander J.M., de Vries, Bert B.A., Ruiterkamp-Versteeg, Martina, de Leeuw, Nicole, Ockeloen, Charlotte W., Pfundt, Rolph, de Boer, Elke, Kummeling, Joost, van Bon, Bregje, van Bokhoven, Hans, Kasri, Nael Nadif, Venselaar, Hanka, Alders, Marielle, Kerkhof, Jennifer, McConkey, Haley, Kuechler, Alma, Elffers, Bart, van Beeck Calkoen, Rixje, Hofman, Susanna, Smith, Audrey, Valenzuela, Maria Irene, Srivastava, Siddharth, Frazier, Zoe, Maystadt, Isabelle, Piscopo, Carmelo, Merla, Giuseppe, Balasubramanian, Meena, Santen, Gijs W.E., Metcalfe, Kay, Park, Soo Mi, Pasquier, Laurent, Banka, Siddharth, Donnai, Dian, Weisberg, Daniel, Strobl-Wildemann, Gertrud, Wagemans, Annemieke, Vreeburg, Maaike, Baralle, Diana, Foulds, Nicola, Scurr, Ingrid, Brunetti-Pierri, Nicola, van Hagen, Johanna M., Bijlsma, Emilia K., Hakonen, Anna H., Courage, Carolina, Genevieve, David, Pinson, Lucile, Forzano, Francesca, Deshpande, Charu, Kluskens, Maria L., Welling, Lindsey, Plomp, Astrid S., Vanhoutte, Els K., Kalsner, Louisa, Hol, Janna A., Putoux, Audrey, Lazier, Johanna, Vasudevan, Pradeep, Ames, Elizabeth, O'Shea, Jessica, Lederer, Damien, Fleischer, Julie, O'Connor, Mary, Pauly, Melissa, Vasileiou, Georgia, Reis, André, Kiraly-Borri, Catherine, Bouman, Arjan, Barnett, Chris, Nezarati, Marjan, Borch, Lauren, Beunders, Gea, Özcan, Kübra, Miot, Stéphanie, Volker-Touw, Catharina M.L., van Gassen, Koen L.I., Cappuccio, Gerarda, Janssens, Katrien, Mor, Nofar, Shomer, Inna, Dominissini, Dan, Tedder, Matthew L., Muir, Alison M., Sadikovic, Bekim, Brunner, Han G., Vissers, Lisenka E.L.M., Shinkai, Yoichi, and Kleefstra, Tjitske
Published: 2024

6. Large-scale genomic investigation of pediatric cholestasis reveals a novel hepatorenal ciliopathy caused by PSKH1 mutations

Author: MDL patientenzorg, Genetica, Genetica Sectie Genoomdiagnostiek, Child Health, Metabole ziekten patientenzorg, Regenerative Medicine and Stem Cells, Maddirevula, Sateesh, Shagrani, Mohammad, Ji, Ae Ri, Horne, Christopher R., Young, Samuel N., Mather, Lucy J., Alqahtani, Mashael, McKerlie, Colin, Wood, Geoffrey, Potter, Paul K., Abdulwahab, Firdous, AlSheddi, Tarfa, van der Woerd, Wendy L., van Gassen, Koen L.I., AlBogami, Dalal, Kumar, Kishwer, Muhammad Akhtar, Ali Syed, Binomar, Hiba, Almanea, Hadeel, Faqeih, Eissa, Fuchs, Sabine A., Scott, John W., Murphy, James M., Alkuraya, Fowzan S., MDL patientenzorg, Genetica, Genetica Sectie Genoomdiagnostiek, Child Health, Metabole ziekten patientenzorg, Regenerative Medicine and Stem Cells, Maddirevula, Sateesh, Shagrani, Mohammad, Ji, Ae Ri, Horne, Christopher R., Young, Samuel N., Mather, Lucy J., Alqahtani, Mashael, McKerlie, Colin, Wood, Geoffrey, Potter, Paul K., Abdulwahab, Firdous, AlSheddi, Tarfa, van der Woerd, Wendy L., van Gassen, Koen L.I., AlBogami, Dalal, Kumar, Kishwer, Muhammad Akhtar, Ali Syed, Binomar, Hiba, Almanea, Hadeel, Faqeih, Eissa, Fuchs, Sabine A., Scott, John W., Murphy, James M., and Alkuraya, Fowzan S.
Published: 2024

7. Unveiling the crucial neuronal role of the proteasomal ATPase subunit genePSMC5in neurodevelopmental proteasomopathies

Author: Küry, Sébastien, primary, Stanton, Janelle E., additional, van Woerden, Geeske, additional, Hsieh, Tzung-Chien, additional, Rosenfelt, Cory, additional, Pier Scott-Boyer, Marie, additional, Most, Victoria, additional, Wang, Tianyun, additional, Papendorf, Jonas Johannes, additional, de Konink, Charlotte, additional, Deb, Wallid, additional, Vignard, Virginie, additional, Studencka-Turski, Maja, additional, Besnard, Thomas, additional, Hajdukowicz, Anna Marta, additional, Thiel, Franziska, additional, Moller, Sophie, additional, Florenceau, Laetitia, additional, Cuinat, Silvestre, additional, Marsac, Sylvain, additional, Wentzensen, Ingrid, additional, Tuttle, Annabelle, additional, Forster, Cara, additional, Striesow, Johanna, additional, Golnik, Richard, additional, Ortiz, Damara, additional, Jenkins, Laura, additional, Rosenfeld, Jill A., additional, Ziegler, Alban, additional, Houdayer, Clara, additional, Bonneau, Dominique, additional, Torti, Erin, additional, Begtrup, Amber, additional, Monaghan, Kristin G., additional, Mullegama, Sureni V., additional, Volker-Touw, C.M.L. (Nienke), additional, van Gassen, Koen L.I., additional, Oegema, Renske, additional, de Pagter, Mirjam, additional, Steindl, Katharina, additional, Rauch, Anita, additional, Ivanovski, Ivan, additional, McDonald, Kimberly, additional, Boothe, Emily, additional, Dauber, Andrew, additional, Baker, Janice, additional, Fabie, Noelle Andrea V., additional, Bernier, Raphael A., additional, Turner, Tychele N., additional, Srivastava, Siddharth, additional, Dies, Kira A., additional, Swanson, Lindsay, additional, Costin, Carrie, additional, Jobling, Rebekah K., additional, Pappas, John, additional, Rabin, Rachel, additional, Niyazov, Dmitriy, additional, Tsai, Anne Chun-Hui, additional, Kovak, Karen, additional, Beck, David B., additional, Malicdan, May Christine V, additional, Adams, David R, additional, Wolfe, Lynne, additional, Ganetzky, Rebecca D., additional, Muraresku, Colleen, additional, Babikyan, Davit, additional, Sedlacek, Zdenek, additional, Hancarova, Miroslava, additional, Timberlake, Andrew T., additional, Al Saif, Hind, additional, Schmidt, Berkley, additional, King, Kayla, additional, Hajianpour, MJ, additional, Costain, Gregory, additional, Prendergast, D'Arcy, additional, Li, Chumei, additional, Genevieve, David, additional, Vitobello, Antonio, additional, Sorlin, Arthur, additional, Philippe, Christophe, additional, Harel, Tamar, additional, Toker, Ori, additional, Sabir, Ataf, additional, Lim, Derek, additional, Hamilton, Mark, additional, Bryson, Lisa, additional, Cleary, Elaine, additional, Weber, Sacha, additional, Hoffman, Trevor L., additional, Cueto-Gonzalez, Anna Maria, additional, Tizzano, Eduardo Fidel, additional, Gomez-Andres, David, additional, Codina-Sola, Marta, additional, Ververi, Athina, additional, Pavlidou, Efterpi, additional, Lambropoulos, Alexandros, additional, Garganis, Kyriakos, additional, Rio, Marlene, additional, Levy, Jonathan, additional, Jurgensmeyer, Sarah, additional, McRae, Anne M., additional, Lessard, Mathieu K., additional, DAgostino, Maria Daniela, additional, De Bie, Isabelle, additional, Wegler, Meret, additional, Abou Jamra, Rami, additional, Kamphausen, Susanne B., additional, Bothe, Viktoria, additional, Busch, Larissa M., additional, Volker, Uwe, additional, Hammer, Elke, additional, Wende, Kristian, additional, Cogne, Benjamin, additional, Isidor, Bertrand, additional, Meiler, Jens, additional, Bosc-Rosati, Amelie, additional, Marcoux, Julien, additional, Bousquet, Marie-Pierre, additional, Poschmann, Jeremie, additional, Laumonnier, Frederic, additional, Hildebrand, Peter W., additional, Eichler, Evan E., additional, McWalter, Kirsty, additional, Krawitz, Peter M., additional, Droit, Arnaud, additional, Elgersma, Ype, additional, Grabrucker, Andreas M., additional, Bolduc, Francois, additional, Bézieau, Stéphane, additional, Ebstein, Frédéric, additional, and Krüger, Elke, additional
Published: 2024
Full Text: View/download PDF

8. De novo missense variants in phosphatidylinositol kinase PIP5KIγ underlie a neurodevelopmental syndrome associated with altered phosphoinositide signaling

Author: Morleo, Manuela, primary, Venditti, Rossella, additional, Theodorou, Evangelos, additional, Briere, Lauren C., additional, Rosello, Marion, additional, Tirozzi, Alfonsina, additional, Tammaro, Roberta, additional, Al-Badri, Nour, additional, High, Frances A., additional, Shi, Jiahai, additional, Putti, Elena, additional, Ferrante, Luigi, additional, Cetrangolo, Viviana, additional, Torella, Annalaura, additional, Walker, Melissa A., additional, Tenconi, Romano, additional, Iascone, Maria, additional, Mei, Davide, additional, Guerrini, Renzo, additional, van der Smagt, Jasper, additional, Kroes, Hester Y., additional, van Gassen, Koen L.I., additional, Bilal, Muhammad, additional, Umair, Muhammad, additional, Pingault, Veronica, additional, Attie-Bitach, Tania, additional, Amiel, Jeannine, additional, Ejaz, Resham, additional, Rodan, Lance, additional, Zollino, Marcella, additional, Agrawal, Pankaj B., additional, Del Bene, Filippo, additional, Nigro, Vincenzo, additional, Sweetser, David A., additional, Franco, Brunella, additional, Acosta, Maria T., additional, Adam, Margaret, additional, Adams, David R., additional, Alvarez, Raquel L., additional, Alvey, Justin, additional, Amendola, Laura, additional, Andrews, Ashley, additional, Ashley, Euan A., additional, Bacino, Carlos A., additional, Bademci, Guney, additional, Balasubramanyam, Ashok, additional, Baldridge, Dustin, additional, Bale, Jim, additional, Bamshad, Michael, additional, Barbouth, Deborah, additional, Bayrak-Toydemir, Pinar, additional, Beck, Anita, additional, Beggs, Alan H., additional, Behrens, Edward, additional, Bejerano, Gill, additional, Bellen, Hugo J., additional, Bennett, Jimmy, additional, Berg-Rood, Beverly, additional, Bernstein, Jonathan A., additional, Berry, Gerard T., additional, Bican, Anna, additional, Bivona, Stephanie, additional, Blue, Elizabeth, additional, Bohnsack, John, additional, Bonner, Devon, additional, Botto, Lorenzo, additional, Boyd, Brenna, additional, Brown, Gabrielle, additional, Burke, Elizabeth A., additional, Burrage, Lindsay C., additional, Butte, Manish J., additional, Byers, Peter, additional, Byrd, William E., additional, Carey, John, additional, Carrasquillo, Olveen, additional, Cassini, Thomas, additional, Chang, Ta Chen Peter, additional, Chanprasert, Sirisak, additional, Chao, Hsiao-Tuan, additional, Clark, Gary D., additional, Coakley, Terra R., additional, Cobban, Laurel A., additional, Cogan, Joy D., additional, Coggins, Matthew, additional, Cole, F. Sessions, additional, Colley, Heather A., additional, Cooper, Cynthia M., additional, Cope, Heidi, additional, Corona, Rosario, additional, Craigen, William J., additional, Crouse, Andrew B., additional, Cunningham, Michael, additional, D’Souza, Precilla, additional, Dai, Hongzheng, additional, Dasari, Surendra, additional, Davis, Joie, additional, Dayal, Jyoti G., additional, Dell'Angelica, Esteban C., additional, Dipple, Katrina, additional, Doherty, Daniel, additional, Dorrani, Naghmeh, additional, Doss, Argenia L., additional, Douine, Emilie D., additional, Earl, Dawn, additional, Eckstein, David J., additional, Emrick, Lisa T., additional, Eng, Christine M., additional, Falk, Marni, additional, Fieg, Elizabeth L., additional, Fisher, Paul G., additional, Fogel, Brent L., additional, Forghani, Irman, additional, Gahl, William A., additional, Glass, Ian, additional, Gochuico, Bernadette, additional, Goddard, Page C., additional, Godfrey, Rena A., additional, Golden-Grant, Katie, additional, Grajewski, Alana, additional, Hadley, Don, additional, Hahn, Sihoun, additional, Halley, Meghan C., additional, Hamid, Rizwan, additional, Hassey, Kelly, additional, Hayes, Nichole, additional, High, Frances, additional, Hing, Anne, additional, Hisama, Fuki M., additional, Holm, Ingrid A., additional, Hom, Jason, additional, Horike-Pyne, Martha, additional, Huang, Alden, additional, Hutchison, Sarah, additional, Introne, Wendy, additional, Isasi, Rosario, additional, Izumi, Kosuke, additional, Jamal, Fariha, additional, Jarvik, Gail P., additional, Jarvik, Jeffrey, additional, Jayadev, Suman, additional, Jean-Marie, Orpa, additional, Jobanputra, Vaidehi, additional, Karaviti, Lefkothea, additional, Ketkar, Shamika, additional, Kiley, Dana, additional, Kilich, Gonench, additional, Kobren, Shilpa N., additional, Kohane, Isaac S., additional, Kohler, Jennefer N., additional, Korrick, Susan, additional, Kozuira, Mary, additional, Krakow, Deborah, additional, Krasnewich, Donna M., additional, Kravets, Elijah, additional, Lalani, Seema R., additional, Lam, Byron, additional, Lam, Christina, additional, Lanpher, Brendan C., additional, Lanza, Ian R., additional, LeBlanc, Kimberly, additional, Lee, Brendan H., additional, Levitt, Roy, additional, Lewis, Richard A., additional, Liu, Pengfei, additional, Liu, Xue Zhong, additional, Longo, Nicola, additional, Loo, Sandra K., additional, Loscalzo, Joseph, additional, Maas, Richard L., additional, Macnamara, Ellen F., additional, MacRae, Calum A., additional, Maduro, Valerie V., additional, Maghiro, AudreyStephannie, additional, Mahoney, Rachel, additional, Malicdan, May Christine V., additional, Mamounas, Laura A., additional, Manolio, Teri A., additional, Mao, Rong, additional, Maravilla, Kenneth, additional, Marom, Ronit, additional, Marth, Gabor, additional, Martin, Beth A., additional, Martin, Martin G., additional, Martínez-Agosto, Julian A., additional, Marwaha, Shruti, additional, McCauley, Jacob, additional, McConkie-Rosell, Allyn, additional, McCray, Alexa T., additional, McGee, Elisabeth, additional, Mefford, Heather, additional, Merritt, J. Lawrence, additional, Might, Matthew, additional, Mirzaa, Ghayda, additional, Morava, Eva, additional, Moretti, Paolo, additional, Mulvihill, John, additional, Nakano-Okuno, Mariko, additional, Nelson, Stanley F., additional, Newman, John H., additional, Nicholas, Sarah K., additional, Nickerson, Deborah, additional, Nieves-Rodriguez, Shirley, additional, Novacic, Donna, additional, Oglesbee, Devin, additional, Orengo, James P., additional, Pace, Laura, additional, Pak, Stephen, additional, Pallais, J. Carl, additional, Palmer, Christina G.S., additional, Papp, Jeanette C., additional, Parker, Neil H., additional, Phillips III, John A., additional, Posey, Jennifer E., additional, Potocki, Lorraine, additional, Pusey Swerdzewski, Barbara N., additional, Quinlan, Aaron, additional, Rao, Deepak A., additional, Raper, Anna, additional, Raskind, Wendy, additional, Renteria, Genecee, additional, Reuter, Chloe M., additional, Rives, Lynette, additional, Robertson, Amy K., additional, Rodan, Lance H., additional, Rosenfeld, Jill A., additional, Rosenwasser, Natalie, additional, Rossignol, Francis, additional, Ruzhnikov, Maura, additional, Sacco, Ralph, additional, Sampson, Jacinda B., additional, Saporta, Mario, additional, Schaechter, Judy, additional, Schedl, Timothy, additional, Schoch, Kelly, additional, Scott, Daryl A., additional, Scott, C. Ron, additional, Shashi, Vandana, additional, Shin, Jimann, additional, Silverman, Edwin K., additional, Sinsheimer, Janet S., additional, Sisco, Kathy, additional, Smith, Edward C., additional, Smith, Kevin S., additional, Solnica-Krezel, Lilianna, additional, Solomon, Ben, additional, Spillmann, Rebecca C., additional, Stoler, Joan M., additional, Sullivan, Kathleen, additional, Sullivan, Jennifer A., additional, Sun, Angela, additional, Sutton, Shirley, additional, Sybert, Virginia, additional, Tabor, Holly K., additional, Tan, Queenie K.-G., additional, Tan, Amelia L.M., additional, Tekin, Mustafa, additional, Telischi, Fred, additional, Thorson, Willa, additional, Tifft, Cynthia J., additional, Toro, Camilo, additional, Tran, Alyssa A., additional, Ungar, Rachel A., additional, Urv, Tiina K., additional, Vanderver, Adeline, additional, Velinder, Matt, additional, Viskochil, Dave, additional, Vogel, Tiphanie P., additional, Wahl, Colleen E., additional, Walker, Melissa, additional, Wallace, Stephanie, additional, Walley, Nicole M., additional, Wambach, Jennifer, additional, Wan, Jijun, additional, Wang, Lee-kai, additional, Wangler, Michael F., additional, Ward, Patricia A., additional, Wegner, Daniel, additional, Weisz Hubshman, Monika, additional, Wener, Mark, additional, Wenger, Tara, additional, Westerfield, Monte, additional, Wheeler, Matthew T., additional, Whitlock, Jordan, additional, Wolfe, Lynne A., additional, Worley, Kim, additional, Xiao, Changrui, additional, Yamamoto, Shinya, additional, Yang, John, additional, Zhang, Zhe, additional, Zuchner, Stephan, additional, Morleo, Manuela, additional, Spampanato, Carmine, additional, Pinelli, Michele, additional, Banfi, Sandro, additional, Varavallo, Alessandra, additional, Selicorni, Angelo, additional, Mariani, Milena, additional, Massimello, Marta, additional, Daolio, Cecilia, additional, Capra, Valeria, additional, Accogli, Andrea, additional, Scala, Marcello, additional, Leuzzi, Vincenzo, additional, Nardecchia, Francesca, additional, Galosi, Serena, additional, Mastrangelo, Mario, additional, Milani, Donatella, additional, Vitiello, Giuseppina, additional, Piluso, Giulio, additional, Romano, Corrado, additional, Failla, Pinella, additional, Greco, Donatella, additional, Pantaleoni, Chiara, additional, Ciaccio, Claudia, additional, D’Arrigo, Stefano, additional, Brunetti Pierri, Nicola, additional, Parenti, Giancarlo, additional, Coppola, Antonietta, additional, Mattina, Teresa, additional, Amenta, Simona, additional, Tummolo, Albina, additional, Santoro, Claudia, additional, Grandone, Anna, additional, De Brasi, Daniele, additional, Varone, Antonio, additional, Garavelli, Livia, additional, Marini, Carla, additional, Bigoni, Stefania, additional, Piscopo, Carmelo, additional, Trabacca, Antonio, additional, De Rinaldis, Marta, additional, and Peron, Angela, additional
Published: 2023
Full Text: View/download PDF

9. Mutations in HIVEP2 are associated with developmental delay, intellectual disability, and dysmorphic features

Author: Steinfeld, Hallie, Cho, Megan T., Retterer, Kyle, Person, Rick, Schaefer, G. Bradley, Danylchuk, Noelle, Malik, Saleem, Wechsler, Stephanie Burns, Wheeler, Patricia G., van Gassen, Koen L.I., Terhal, P.A., Verhoeven, Virginie J.M., van Slegtenhorst, Marjon A., Monaghan, Kristin G., Henderson, Lindsay B., and Chung, Wendy K.
Published: 2016
Full Text: View/download PDF

10. Correction: Aminoacyl-tRNA synthetase deficiencies in search of common themes

Author: Fuchs, Sabine A., primary, Schene, Imre F., additional, Kok, Gautam, additional, Jansen, Jurriaan M., additional, Nikkels, Peter G.J., additional, van Gassen, Koen L.I., additional, Terheggen-Lagro, Suzanne W.J., additional, van der Crabben, Saskia N., additional, Hoeks, Sanne E., additional, Niers, Laetitia E.M., additional, Wolf, Nicole I., additional, de Vries, Maaike C., additional, Koolen, David A., additional, Houwen, Roderick H.J., additional, Mulder, Margot F., additional, and van Hasselt, Peter M., additional
Published: 2021
Full Text: View/download PDF

11. B56δ-related protein phosphatase 2A dysfunction identified in patients with intellectual disability

Author: 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
Published: 2015
Full Text: View/download PDF

12. Correction to:De novo variants in SNAP25 cause an early-onset developmental and epileptic encephalopathy (Genetics in Medicine, (2021), 23, 4, (653-660), 10.1038/s41436-020-01020-w)

Author: Klöckner, Chiara, Sticht, Heinrich, Zacher, Pia, Popp, Bernt, Babcock, Holly E., Bakker, Dewi P., Barwick, Katy, Bonfert, Michaela V., Bönnemann, Carsten G., Brilstra, Eva H., Chung, Wendy K., Clarke, Angus J., Devine, Patrick, Donkervoort, Sandra, Fraser, Jamie L., Friedman, Jennifer, Gates, Alyssa, Ghoumid, Jamal, Hobson, Emma, Horvath, Gabriella, Keller-Ramey, Jennifer, Keren, Boris, Kurian, Manju A., Lee, Virgina, Leppig, Kathleen A., Lundgren, Johan, McDonald, Marie T., McLaughlin, Heather M., McTague, Amy, Mefford, Heather C., Mignot, Cyril, Mikati, Mohamad A., Nava, Caroline, Raymond, F. Lucy, Sampson, Julian R., Sanchis-Juan, Alba, Shashi, Vandana, Shieh, Joseph T.C., Shinawi, Marwan, Slavotinek, Anne, Stödberg, Tommy, Stong, Nicholas, Sullivan, Jennifer A., Taylor, Ashley C., Toler, Tomi L., van den Boogaard, Marie José, van der Crabben, Saskia N., van Gassen, Koen L.I., van Jaarsveld, Richard H., Møller, Rikke S., Lemke, Johannes W, and Platzer, Konrad
Abstract: Unfortunately, in the first sentence in the abstract, a spelling mistake was introduced during the production process after our proofreading. The wording was changed from “aims” to “aimsed.” Heather M. McLaughlin was not listed among the authors. The original article has been corrected.
Published: 2021

13. Truncating SRCAP variants outside the Floating-Harbor syndrome locus cause a distinct neurodevelopmental disorder with a specific DNA methylation signature

Author: Rots, Dmitrijs, primary, Chater-Diehl, Eric, additional, Dingemans, Alexander J.M., additional, Goodman, Sarah J., additional, Siu, Michelle T., additional, Cytrynbaum, Cheryl, additional, Choufani, Sanaa, additional, Hoang, Ny, additional, Walker, Susan, additional, Awamleh, Zain, additional, Charkow, Joshua, additional, Meyn, Stephen, additional, Pfundt, Rolph, additional, Rinne, Tuula, additional, Gardeitchik, Thatjana, additional, de Vries, Bert B.A., additional, Deden, A. Chantal, additional, Leenders, Erika, additional, Kwint, Michael, additional, Stumpel, Constance T.R.M., additional, Stevens, Servi J.C., additional, Vermeulen, Jeroen R., additional, van Harssel, Jeske V.T., additional, Bosch, Danielle G.M., additional, van Gassen, Koen L.I., additional, van Binsbergen, Ellen, additional, de Geus, Christa M., additional, Brackel, Hein, additional, Hempel, Maja, additional, Lessel, Davor, additional, Denecke, Jonas, additional, Slavotinek, Anne, additional, Strober, Jonathan, additional, Crunk, Amy, additional, Folk, Leandra, additional, Wentzensen, Ingrid M., additional, Yang, Hui, additional, Zou, Fanggeng, additional, Millan, Francisca, additional, Person, Richard, additional, Xie, Yili, additional, Liu, Shuxi, additional, Ousager, Lilian B., additional, Larsen, Martin, additional, Schultz-Rogers, Laura, additional, Morava, Eva, additional, Klee, Eric W., additional, Berry, Ian R., additional, Campbell, Jennifer, additional, Lindstrom, Kristin, additional, Pruniski, Brianna, additional, Neumeyer, Ann M., additional, Radley, Jessica A., additional, Phornphutkul, Chanika, additional, Schmidt, Berkley, additional, Wilson, William G., additional, Õunap, Katrin, additional, Reinson, Karit, additional, Pajusalu, Sander, additional, van Haeringen, Arie, additional, Ruivenkamp, Claudia, additional, Cuperus, Roos, additional, Santos-Simarro, Fernando, additional, Palomares-Bralo, María, additional, Pacio-Míguez, Marta, additional, Ritter, Alyssa, additional, Bhoj, Elizabeth, additional, Tønne, Elin, additional, Tveten, Kristian, additional, Cappuccio, Gerarda, additional, Brunetti-Pierri, Nicola, additional, Rowe, Leah, additional, Bunn, Jason, additional, Saenz, Margarita, additional, Platzer, Konrad, additional, Mertens, Mareike, additional, Caluseriu, Oana, additional, Nowaczyk, Małgorzata J.M., additional, Cohn, Ronald D., additional, Kannu, Peter, additional, Alkhunaizi, Ebba, additional, Chitayat, David, additional, Scherer, Stephen W., additional, Brunner, Han G., additional, Vissers, Lisenka E.L.M., additional, Kleefstra, Tjitske, additional, Koolen, David A., additional, and Weksberg, Rosanna, additional
Published: 2021
Full Text: View/download PDF

14. Characterization of SETD1A haploinsufficiency in humans and Drosophila defines a novel neurodevelopmental syndrome

Author: Genetica, Genetica Klinische Genetica, Child Health, Circulatory Health, Genetica Sectie Genoomdiagnostiek, Kummeling, Joost, Stremmelaar, Diante E., Raun, Nicholas, Reijnders, Margot R.F., Willemsen, Marjolein H., Ruiterkamp-Versteeg, Martina, Schepens, Marga, Man, Calvin C.O., Gilissen, Christian, Cho, Megan T., McWalter, Kirsty, Sinnema, Margje, Wheless, James W., Simon, Marleen E.H., Genetti, Casie A., Casey, Alicia M., Terhal, Paulien A., van der Smagt, Jasper J., van Gassen, Koen L.I., Joset, Pascal, Bahr, Angela, Steindl, Katharina, Rauch, Anita, Keller, Elmar, Raas-Rothschild, Annick, Koolen, David A., Agrawal, Pankaj B., Hoffman, Trevor L., Powell-Hamilton, Nina N., Thiffault, Isabelle, Engleman, Kendra, Zhou, Dihong, Bodamer, Olaf, Hoefele, Julia, Riedhammer, Korbinian M., Schwaibold, Eva M.C., Tasic, Velibor, Schubert, Dirk, Top, Deniz, Pfundt, Rolph, Higgs, Martin R., Kramer, Jamie M., Kleefstra, Tjitske, Genetica, Genetica Klinische Genetica, Child Health, Circulatory Health, Genetica Sectie Genoomdiagnostiek, Kummeling, Joost, Stremmelaar, Diante E., Raun, Nicholas, Reijnders, Margot R.F., Willemsen, Marjolein H., Ruiterkamp-Versteeg, Martina, Schepens, Marga, Man, Calvin C.O., Gilissen, Christian, Cho, Megan T., McWalter, Kirsty, Sinnema, Margje, Wheless, James W., Simon, Marleen E.H., Genetti, Casie A., Casey, Alicia M., Terhal, Paulien A., van der Smagt, Jasper J., van Gassen, Koen L.I., Joset, Pascal, Bahr, Angela, Steindl, Katharina, Rauch, Anita, Keller, Elmar, Raas-Rothschild, Annick, Koolen, David A., Agrawal, Pankaj B., Hoffman, Trevor L., Powell-Hamilton, Nina N., Thiffault, Isabelle, Engleman, Kendra, Zhou, Dihong, Bodamer, Olaf, Hoefele, Julia, Riedhammer, Korbinian M., Schwaibold, Eva M.C., Tasic, Velibor, Schubert, Dirk, Top, Deniz, Pfundt, Rolph, Higgs, Martin R., Kramer, Jamie M., and Kleefstra, Tjitske
Published: 2021

15. Correction to: De novo variants in SNAP25 cause an early-onset developmental and epileptic encephalopathy

Author: Klöckner, Chiara, primary, Sticht, Heinrich, additional, Zacher, Pia, additional, Popp, Bernt, additional, Babcock, Holly E., additional, Bakker, Dewi P., additional, Barwick, Katy, additional, Bonfert, Michaela V., additional, Bönnemann, Carsten G., additional, Brilstra, Eva H., additional, Chung, Wendy K., additional, Clarke, Angus J., additional, Devine, Patrick, additional, Donkervoort, Sandra, additional, Fraser, Jamie L., additional, Friedman, Jennifer, additional, Gates, Alyssa, additional, Ghoumid, Jamal, additional, Hobson, Emma, additional, Horvath, Gabriella, additional, Keller-Ramey, Jennifer, additional, Keren, Boris, additional, Kurian, Manju A., additional, Lee, Virgina, additional, Leppig, Kathleen A., additional, Lundgren, Johan, additional, McDonald, Marie T., additional, McLaughlin, Heather M., additional, McTague, Amy, additional, Mefford, Heather C., additional, Mignot, Cyril, additional, Mikati, Mohamad A., additional, Nava, Caroline, additional, Raymond, F. Lucy, additional, Sampson, Julian R., additional, Sanchis-Juan, Alba, additional, Shashi, Vandana, additional, Shieh, Joseph T.C., additional, Shinawi, Marwan, additional, Slavotinek, Anne, additional, Stödberg, Tommy, additional, Stong, Nicholas, additional, Sullivan, Jennifer A., additional, Taylor, Ashley C., additional, Toler, Tomi L., additional, van den Boogaard, Marie-José, additional, van der Crabben, Saskia N., additional, van Gassen, Koen L.I., additional, van Jaarsveld, Richard H., additional, Van Ziffle, Jessica, additional, Wadley, Alexandrea F., additional, Wagner, Matias, additional, Wigby, Kristen, additional, Wortmann, Saskia B., additional, Zarate, Yuri A., additional, Møller, Rikke S., additional, Lemke, Johannes R., additional, and Platzer, Konrad, additional
Published: 2021
Full Text: View/download PDF

16. De novo variants in SNAP25 cause an early-onset developmental and epileptic encephalopathy

Author: Klöckner, Chiara, primary, Sticht, Heinrich, additional, Zacher, Pia, additional, Popp, Bernt, additional, Babcock, Holly E., additional, Bakker, Dewi P., additional, Barwick, Katy, additional, Bonfert, Michaela V., additional, Bönnemann, Carsten G., additional, Brilstra, Eva H., additional, Chung, Wendy K., additional, Clarke, Angus J., additional, Devine, Patrick, additional, Donkervoort, Sandra, additional, Fraser, Jamie L., additional, Friedman, Jennifer, additional, Gates, Alyssa, additional, Ghoumid, Jamal, additional, Hobson, Emma, additional, Horvath, Gabriella, additional, Keller-Ramey, Jennifer, additional, Keren, Boris, additional, Kurian, Manju A., additional, Lee, Virgina, additional, Leppig, Kathleen A., additional, Lundgren, Johan, additional, McDonald, Marie T., additional, McLaughlin, Heather M., additional, McTague, Amy, additional, Mefford, Heather C., additional, Mignot, Cyril, additional, Mikati, Mohamad A., additional, Nava, Caroline, additional, Raymond, F. Lucy, additional, Sampson, Julian R., additional, Sanchis-Juan, Alba, additional, Shashi, Vandana, additional, Shieh, Joseph T.C., additional, Shinawi, Marwan, additional, Slavotinek, Anne, additional, Stödberg, Tommy, additional, Stong, Nicholas, additional, Sullivan, Jennifer A., additional, Taylor, Ashley C., additional, Toler, Tomi L., additional, van den Boogaard, Marie-José, additional, van der Crabben, Saskia N., additional, van Gassen, Koen L.I., additional, van Jaarsveld, Richard H., additional, Van Ziffle, Jessica, additional, Wadley, Alexandrea F., additional, Wagner, Matias, additional, Wigby, Kristen, additional, Wortmann, Saskia B., additional, Zarate, Yuri A., additional, Møller, Rikke S., additional, Lemke, Johannes R., additional, and Platzer, Konrad, additional
Published: 2021
Full Text: View/download PDF

17. Cross-omics: Integrating genomics with metabolomics in clinical diagnostics

Author: Genetica Lab. Metabole Diagnostiek, Genetica Sectie Genoomdiagnostiek, Child Health, DBG Metabole en Endocriene Ziekten, Genetica Sectie Metabole Diagnostiek, Genetica Medische Informatica, Cluster C, Metabole ziekten patientenzorg, Infection & Immunity, Cancer, Kerkhofs, Marten H.P.M., Haijes, Hanneke A., Marcel Willemsen, A., Van Gassen, Koen L.I., Van Der Ham, Maria, Gerrits, Johan, De Sain-Van Der Velden, Monique G.M., Prinsen, Hubertus C.M.T., Van Deutekom, Hanneke W.M., Van Hasselt, Peter M., Verhoeven-Duif, Nanda M., Jans, Judith J.M., Genetica Lab. Metabole Diagnostiek, Genetica Sectie Genoomdiagnostiek, Child Health, DBG Metabole en Endocriene Ziekten, Genetica Sectie Metabole Diagnostiek, Genetica Medische Informatica, Cluster C, Metabole ziekten patientenzorg, Infection & Immunity, Cancer, Kerkhofs, Marten H.P.M., Haijes, Hanneke A., Marcel Willemsen, A., Van Gassen, Koen L.I., Van Der Ham, Maria, Gerrits, Johan, De Sain-Van Der Velden, Monique G.M., Prinsen, Hubertus C.M.T., Van Deutekom, Hanneke W.M., Van Hasselt, Peter M., Verhoeven-Duif, Nanda M., and Jans, Judith J.M.
Published: 2020

18. De novo coding variants in the AGO1 gene cause a neurodevelopmental disorder with intellectual disability

Author: Schalk, Audrey, primary, Cousin, Margot A., additional, Challman, Thomas D., additional, Wain, Karen E., additional, Powis, Zöe, additional, Minks, Kelly, additional, Trimouille, Aurélien, additional, Lasseaux, Eulalie, additional, Lacombre, Didier, additional, Angelini, Chloé, additional, Michaud, Vincent, additional, Van-Gils, Julien, additional, Spataro, Nino, additional, Ruiz, Anna, additional, Gabau, Elizabeth, additional, Stolerman, Elliot, additional, Washington, Camerun, additional, Louie, Raymond J., additional, Lanpher, Brendan C, additional, Kemppainen, Jennifer L., additional, Innes, A. Micheil, additional, Kooy, R. Frank, additional, Meuwissen, Marije, additional, Goldenberg, Alice, additional, Lecoquierre, François, additional, Vera, Gabriella, additional, Diderich, Karin E M, additional, Sheidley, Beth Rosen, additional, El Achkar, Christelle Moufawad, additional, Park, Meredith, additional, Hamdan, Fadi F., additional, Michaud, Jacques L., additional, Lewis, Ann J., additional, Zweier, Christiane, additional, Reis, André, additional, Wagner, Matias, additional, Weigand, Heike, additional, Journel, Hubert, additional, Keren, Boris, additional, Passemard, Sandrine, additional, Mignot, Cyril, additional, van Gassen, Koen L.I., additional, Brilstra, Eva H., additional, Itzikowitz, Gina, additional, O’Heir, Emily, additional, Allen, Jake, additional, Donald, Kirsten A., additional, Korf, Bruce R., additional, Skelton, Tammi, additional, Thompson, Michelle L, additional, Robin, Nathaniel H., additional, Rudy, Natasha, additional, Dobyns, William B., additional, Foss, Kimberly, additional, Zarate, Yuri A, additional, Bosanko, Katherine A., additional, Alembik, Yves, additional, Durand, Benjamin, additional, Mau-Them, Frédéric Tran, additional, Ranza, Emmanuelle, additional, Blanc, Xavier, additional, Antonarakis, Stylianos E., additional, McWalter, Kirsty, additional, Torti, Erin, additional, Millan, Francisca, additional, Dameron, Amy, additional, Tokita, Mari J., additional, Zimmermann, Michael T., additional, Dsouza, Nikita R., additional, Klee, Eric W., additional, Piton, Amélie, additional, and Gerard, Bénédicte, additional
Published: 2020
Full Text: View/download PDF

19. Disruption of RFX family transcription factors causes autism, attention deficit/hyperactivity disorder, intellectual disability, and dysregulated behavior

Author: Harris, Holly K., primary, Nakayama, Tojo, additional, Lai, Jenny, additional, Zhao, Boxun, additional, Argyrou, Nikoleta, additional, Gubbels, Cynthia S., additional, Soucy, Aubrie, additional, Genetti, Casie A., additional, Rodan, Lance H., additional, Tiller, George E., additional, Lesca, Gaetan, additional, Gripp, Karen W., additional, Asadollahi, Reza, additional, Hamosh, Ada, additional, Applegate, Carolyn D., additional, Turnpenny, Peter D., additional, Simon, Marleen E.H., additional, Volker-Touw, Catharina (Nienke) M.L., additional, van Gassen, Koen L.I., additional, van Binsbergen, Ellen, additional, Pfundt, Rolph, additional, Gardeitchik, Thatjana, additional, de Vries, Bert B.A., additional, Imken, Ladonna L., additional, Buchanan, Catherine, additional, Willing, Marcia, additional, Toler, Tomi L., additional, Fassi, Emily, additional, Baker, Laura, additional, Vansenne, Fleur, additional, Wang, Xiadong, additional, Ambrus, Julian L., additional, Fannemel, Madeleine, additional, Posey, Jennifer E., additional, Agolini, Emanuele, additional, Novelli, Antonio, additional, Rauch, Anita, additional, Boonsawat, Paranchai, additional, Fagerberg, Christina R., additional, Larsen, Martin J., additional, Kibaek, Maria, additional, Labalme, Audrey, additional, Poisson, Alice, additional, Payne, Katelyn K., additional, Walsh, Laurence E., additional, Aldinger, Kimberly, additional, Balciuniene, Jorune, additional, Skraban, Cara, additional, Gray, Christopher, additional, Murrell, Jill, additional, Bupp, Caleb P., additional, Pascolini, Giulia, additional, Grammatico, Paola, additional, Broly, Martin, additional, Küry, Sébastien, additional, Nizon, Mathilde, additional, Rasool, Iqra Ghulam, additional, Zahoor, Muhammad Yasir, additional, Kraus, Cornelia, additional, Reis, André, additional, Iqbal, Muhammad, additional, Uguen, Kevin, additional, Audebert-Bellanger, Severine, additional, Ferec, Claude, additional, Redon, Sylvia, additional, Baker, Janice, additional, Wu, Yunhong, additional, Zampino, Guiseppe, additional, Syrbe, Steffan, additional, Brosse, Ines, additional, Jamra, Rami Abou, additional, Dobyns, William B., additional, Cohen, Lilian L., additional, Agrawal, Pankaj B., additional, Beggs, Alan, additional, and Yu, Timothy W., additional
Published: 2020
Full Text: View/download PDF

20. Expanding the Spectrum of BAF-Related Disorders : De Novo Variants in SMARCC2 Cause a Syndrome with Intellectual Disability and Developmental Delay

Author: Machol, Keren, Rousseau, Justine, Ehresmann, Sophie, Garcia, Thomas, Nguyen, Thi Tuyet Mai, Spillmann, Rebecca C., Sullivan, Jennifer A., Shashi, Vandana, Jiang, Yong hui, Stong, Nicholas, Fiala, Elise, Willing, Marcia, Pfundt, Rolph, Kleefstra, Tjitske, Cho, Megan T., McLaughlin, Heather, Rosello Piera, Monica, Orellana, Carmen, Martínez, Francisco, Caro-Llopis, Alfonso, Monfort, Sandra, Roscioli, Tony, Nixon, Cheng Yee, Buckley, Michael F., Turner, Anne, Jones, Wendy D., van Hasselt, Peter M., Hofstede, Floris C., van Gassen, Koen L.I., Brooks, Alice S., van Slegtenhorst, Marjon A., Lachlan, Katherine, Sebastian, Jessica, Madan-Khetarpal, Suneeta, Sonal, Desai, Sakkubai, Naidu, Thevenon, Julien, Faivre, Laurence, Maurel, Alice, Petrovski, Slavé, Krantz, Ian D., Tarpinian, Jennifer M., Rosenfeld, Jill A., Lee, Brendan H., Adams, David R., Alejandro, Mercedes E., Allard, Patrick, Azamian, Mahshid S., Bacino, Carlos A., Balasubramanyam, Ashok, and Undiagnosed Diseases Network
Subjects: developmental delay, dysmorphisms, speech delay, Bafopathy, intellectual disability, Genetics, Journal Article, Genetics(clinical), genotype-phenotype correlation, neurodevelopmental disorder, transcriptome
Abstract: SMARCC2 (BAF170) is one of the invariable core subunits of the ATP-dependent chromatin remodeling BAF (BRG1-associated factor) complex and plays a crucial role in embryogenesis and corticogenesis. Pathogenic variants in genes encoding other components of the BAF complex have been associated with intellectual disability syndromes. Despite its significant biological role, variants in SMARCC2 have not been directly associated with human disease previously. Using whole-exome sequencing and a web-based gene-matching program, we identified 15 individuals with variable degrees of neurodevelopmental delay and growth retardation harboring one of 13 heterozygous variants in SMARCC2, most of them novel and proven de novo. The clinical presentation overlaps with intellectual disability syndromes associated with other BAF subunits, such as Coffin-Siris and Nicolaides-Baraitser syndromes and includes prominent speech impairment, hypotonia, feeding difficulties, behavioral abnormalities, and dysmorphic features such as hypertrichosis, thick eyebrows, thin upper lip vermilion, and upturned nose. Nine out of the fifteen individuals harbor variants in the highly conserved SMARCC2 DNA-interacting domains (SANT and SWIRM) and present with a more severe phenotype. Two of these individuals present cardiac abnormalities. Transcriptomic analysis of fibroblasts from affected individuals highlights a group of differentially expressed genes with possible roles in regulation of neuronal development and function, namely H19, SCRG1, RELN, and CACNB4. Our findings suggest a novel SMARCC2-related syndrome that overlaps with neurodevelopmental disorders associated with variants in BAF-complex subunits.
Published: 2019

21. De Novo Heterozygous POLR2A Variants Cause a Neurodevelopmental Syndrome with Profound Infantile-Onset Hypotonia

Author: Haijes, Hanneke A., Koster, Maria J.E., Rehmann, Holger, Li, Dong, Hakonarson, H., Cappuccio, Gerarda, Hancarova, Miroslava, Lehalle, Daphne, Reardon, Willie, Schaefer, G. Bradley, Lehman, Anna, van de Laar, Ingrid M.B.H., Tesselaar, Coranne D., Turner, Clesson, Goldenberg, A., Patrier, Sophie, Thevenon, Julien, Pinelli, Michele, Brunetti-Pierri, Nicola, Prchalová, Darina, Havlovicová, Markéta, Vlckova, Markéta, Sedláček, Zdeněk, Lopez, E., Ragoussis, Vassilis, Pagnamenta, Alistair T., Kini, Usha, Vos, Harmjan R., van Es, Robert M., van Schaik, Richard F.M.A., van Essen, Ton A.J., Kibaek, M., Taylor, Jenny C., Sullivan, Jennifer, Shashi, Vandana, Petrovski, S., Fagerberg, Christina, Martin, Donna M., van Gassen, Koen L.I., Pfundt, R., Falk, Marni J., McCormick, Elizabeth M., Timmers, H. T.Marc, van Hasselt, Peter M., Haijes, Hanneke A., Koster, Maria J.E., Rehmann, Holger, Li, Dong, Hakonarson, H., Cappuccio, Gerarda, Hancarova, Miroslava, Lehalle, Daphne, Reardon, Willie, Schaefer, G. Bradley, Lehman, Anna, van de Laar, Ingrid M.B.H., Tesselaar, Coranne D., Turner, Clesson, Goldenberg, A., Patrier, Sophie, Thevenon, Julien, Pinelli, Michele, Brunetti-Pierri, Nicola, Prchalová, Darina, Havlovicová, Markéta, Vlckova, Markéta, Sedláček, Zdeněk, Lopez, E., Ragoussis, Vassilis, Pagnamenta, Alistair T., Kini, Usha, Vos, Harmjan R., van Es, Robert M., van Schaik, Richard F.M.A., van Essen, Ton A.J., Kibaek, M., Taylor, Jenny C., Sullivan, Jennifer, Shashi, Vandana, Petrovski, S., Fagerberg, Christina, Martin, Donna M., van Gassen, Koen L.I., Pfundt, R., Falk, Marni J., McCormick, Elizabeth M., Timmers, H. T.Marc, and van Hasselt, Peter M.
Published: 2019

22. Lysosomal Signaling Licenses Embryonic Stem Cell Differentiation via Inactivation of Tfe3

Author: Villegas, Florian, Lehalle, Daphné, Mayer, Daniela, Rittirsch, Melanie, Stadler, Michael B., Zinner, Marietta, Olivieri, Daniel, Vabres, Pierre, Duplomb-Jego, Laurence, De Bont, Eveline S.J.M., Duffourd, Yannis, Duijkers, Floor, Avila, Magali, Geneviève, David, Houcinat, Nada, Jouan, Thibaud, Kuentz, Paul, Lichtenbelt, Klaske D., Thauvin-Robinet, Christel, St-Onge, Judith, Thevenon, Julien, van Gassen, Koen L.I., van Haelst, Mieke, van Koningsbruggen, Silvana, Hess, Daniel, Smallwood, Sebastien A., Rivière, Jean Baptiste, Faivre, Laurence, Betschinger, Joerg, Villegas, Florian, Lehalle, Daphné, Mayer, Daniela, Rittirsch, Melanie, Stadler, Michael B., Zinner, Marietta, Olivieri, Daniel, Vabres, Pierre, Duplomb-Jego, Laurence, De Bont, Eveline S.J.M., Duffourd, Yannis, Duijkers, Floor, Avila, Magali, Geneviève, David, Houcinat, Nada, Jouan, Thibaud, Kuentz, Paul, Lichtenbelt, Klaske D., Thauvin-Robinet, Christel, St-Onge, Judith, Thevenon, Julien, van Gassen, Koen L.I., van Haelst, Mieke, van Koningsbruggen, Silvana, Hess, Daniel, Smallwood, Sebastien A., Rivière, Jean Baptiste, Faivre, Laurence, and Betschinger, Joerg
Published: 2019

23. De Novo Heterozygous POLR2A Variants Cause a Neurodevelopmental Syndrome with Profound Infantile-Onset Hypotonia

Author: Genetica Sectie Metabole Diagnostiek, UMC Utrecht, Metabole ziekten patientenzorg, CMM Sectie Molecular Cancer Research, CMM Groep Bos, Cancer, CMM Groep Burgering, Genetica Sectie Genoomdiagnostiek, Child Health, Urologie Opleiding, CMM Sectie Stem Cells, Cluster C, Haijes, Hanneke A., Koster, Maria J.E., Rehmann, Holger, Li, Dong, Hakonarson, H., Cappuccio, Gerarda, Hancarova, Miroslava, Lehalle, Daphne, Reardon, Willie, Schaefer, G. Bradley, Lehman, Anna, van de Laar, Ingrid M.B.H., Tesselaar, Coranne D., Turner, Clesson, Goldenberg, A., Patrier, Sophie, Thevenon, Julien, Pinelli, Michele, Brunetti-Pierri, Nicola, Prchalová, Darina, Havlovicová, Markéta, Vlckova, Markéta, Sedláček, Zdeněk, Lopez, E., Ragoussis, Vassilis, Pagnamenta, Alistair T., Kini, Usha, Vos, Harmjan R., van Es, Robert M., van Schaik, Richard F.M.A., van Essen, Ton A.J., Kibaek, M., Taylor, Jenny C., Sullivan, Jennifer, Shashi, Vandana, Petrovski, S., Fagerberg, Christina, Martin, Donna M., van Gassen, Koen L.I., Pfundt, R., Falk, Marni J., McCormick, Elizabeth M., Timmers, H. T.Marc, van Hasselt, Peter M., Genetica Sectie Metabole Diagnostiek, UMC Utrecht, Metabole ziekten patientenzorg, CMM Sectie Molecular Cancer Research, CMM Groep Bos, Cancer, CMM Groep Burgering, Genetica Sectie Genoomdiagnostiek, Child Health, Urologie Opleiding, CMM Sectie Stem Cells, Cluster C, Haijes, Hanneke A., Koster, Maria J.E., Rehmann, Holger, Li, Dong, Hakonarson, H., Cappuccio, Gerarda, Hancarova, Miroslava, Lehalle, Daphne, Reardon, Willie, Schaefer, G. Bradley, Lehman, Anna, van de Laar, Ingrid M.B.H., Tesselaar, Coranne D., Turner, Clesson, Goldenberg, A., Patrier, Sophie, Thevenon, Julien, Pinelli, Michele, Brunetti-Pierri, Nicola, Prchalová, Darina, Havlovicová, Markéta, Vlckova, Markéta, Sedláček, Zdeněk, Lopez, E., Ragoussis, Vassilis, Pagnamenta, Alistair T., Kini, Usha, Vos, Harmjan R., van Es, Robert M., van Schaik, Richard F.M.A., van Essen, Ton A.J., Kibaek, M., Taylor, Jenny C., Sullivan, Jennifer, Shashi, Vandana, Petrovski, S., Fagerberg, Christina, Martin, Donna M., van Gassen, Koen L.I., Pfundt, R., Falk, Marni J., McCormick, Elizabeth M., Timmers, H. T.Marc, and van Hasselt, Peter M.
Published: 2019

24. Expanding the Spectrum of BAF-Related Disorders: De Novo Variants in SMARCC2 Cause a Syndrome with Intellectual Disability and Developmental Delay

Author: Cluster C, Child Health, Metabole ziekten patientenzorg, Integrale & Alg. Kindergen Patientenzorg, Genetica Sectie Genoomdiagnostiek, Machol, Keren, Rousseau, Justine, Ehresmann, Sophie, Garcia, Thomas, Nguyen, Thi Tuyet Mai, Spillmann, Rebecca C., Sullivan, Jennifer A., Shashi, Vandana, Jiang, Yong hui, Stong, Nicholas, Fiala, Elise, Willing, Marcia, Pfundt, Rolph, Kleefstra, Tjitske, Cho, Megan T., McLaughlin, Heather, Rosello Piera, Monica, Orellana, Carmen, Martínez, Francisco, Caro-Llopis, Alfonso, Monfort, Sandra, Roscioli, Tony, Nixon, Cheng Yee, Buckley, Michael F., Turner, Anne, Jones, Wendy D., van Hasselt, Peter M., Hofstede, Floris C., van Gassen, Koen L.I., Brooks, Alice S., van Slegtenhorst, Marjon A., Lachlan, Katherine, Sebastian, Jessica, Madan-Khetarpal, Suneeta, Sonal, Desai, Sakkubai, Naidu, Thevenon, Julien, Faivre, Laurence, Maurel, Alice, Petrovski, Slavé, Krantz, Ian D., Tarpinian, Jennifer M., Rosenfeld, Jill A., Lee, Brendan H., Adams, David R., Alejandro, Mercedes E., Allard, Patrick, Azamian, Mahshid S., Bacino, Carlos A., Balasubramanyam, Ashok, Undiagnosed Diseases Network, Cluster C, Child Health, Metabole ziekten patientenzorg, Integrale & Alg. Kindergen Patientenzorg, Genetica Sectie Genoomdiagnostiek, Machol, Keren, Rousseau, Justine, Ehresmann, Sophie, Garcia, Thomas, Nguyen, Thi Tuyet Mai, Spillmann, Rebecca C., Sullivan, Jennifer A., Shashi, Vandana, Jiang, Yong hui, Stong, Nicholas, Fiala, Elise, Willing, Marcia, Pfundt, Rolph, Kleefstra, Tjitske, Cho, Megan T., McLaughlin, Heather, Rosello Piera, Monica, Orellana, Carmen, Martínez, Francisco, Caro-Llopis, Alfonso, Monfort, Sandra, Roscioli, Tony, Nixon, Cheng Yee, Buckley, Michael F., Turner, Anne, Jones, Wendy D., van Hasselt, Peter M., Hofstede, Floris C., van Gassen, Koen L.I., Brooks, Alice S., van Slegtenhorst, Marjon A., Lachlan, Katherine, Sebastian, Jessica, Madan-Khetarpal, Suneeta, Sonal, Desai, Sakkubai, Naidu, Thevenon, Julien, Faivre, Laurence, Maurel, Alice, Petrovski, Slavé, Krantz, Ian D., Tarpinian, Jennifer M., Rosenfeld, Jill A., Lee, Brendan H., Adams, David R., Alejandro, Mercedes E., Allard, Patrick, Azamian, Mahshid S., Bacino, Carlos A., Balasubramanyam, Ashok, and Undiagnosed Diseases Network
Published: 2019

25. Lysosomal Signaling Licenses Embryonic Stem Cell Differentiation via Inactivation of Tfe3

Author: Genetica, UMC Utrecht, Genetica Klinische Genetica, Child Health, Genetica Sectie Genoomdiagnostiek, Villegas, Florian, Lehalle, Daphné, Mayer, Daniela, Rittirsch, Melanie, Stadler, Michael B., Zinner, Marietta, Olivieri, Daniel, Vabres, Pierre, Duplomb-Jego, Laurence, De Bont, Eveline S.J.M., Duffourd, Yannis, Duijkers, Floor, Avila, Magali, Geneviève, David, Houcinat, Nada, Jouan, Thibaud, Kuentz, Paul, Lichtenbelt, Klaske D., Thauvin-Robinet, Christel, St-Onge, Judith, Thevenon, Julien, van Gassen, Koen L.I., van Haelst, Mieke, van Koningsbruggen, Silvana, Hess, Daniel, Smallwood, Sebastien A., Rivière, Jean Baptiste, Faivre, Laurence, Betschinger, Joerg, Genetica, UMC Utrecht, Genetica Klinische Genetica, Child Health, Genetica Sectie Genoomdiagnostiek, Villegas, Florian, Lehalle, Daphné, Mayer, Daniela, Rittirsch, Melanie, Stadler, Michael B., Zinner, Marietta, Olivieri, Daniel, Vabres, Pierre, Duplomb-Jego, Laurence, De Bont, Eveline S.J.M., Duffourd, Yannis, Duijkers, Floor, Avila, Magali, Geneviève, David, Houcinat, Nada, Jouan, Thibaud, Kuentz, Paul, Lichtenbelt, Klaske D., Thauvin-Robinet, Christel, St-Onge, Judith, Thevenon, Julien, van Gassen, Koen L.I., van Haelst, Mieke, van Koningsbruggen, Silvana, Hess, Daniel, Smallwood, Sebastien A., Rivière, Jean Baptiste, Faivre, Laurence, and Betschinger, Joerg
Published: 2019

26. De Novo Heterozygous POLR2A Variants Cause a Neurodevelopmental Syndrome with Profound Infantile-Onset Hypotonia

Author: Haijes, Hanneke A., primary, Koster, Maria J.E., additional, Rehmann, Holger, additional, Li, Dong, additional, Hakonarson, Hakon, additional, Cappuccio, Gerarda, additional, Hancarova, Miroslava, additional, Lehalle, Daphne, additional, Reardon, Willie, additional, Schaefer, G. Bradley, additional, Lehman, Anna, additional, van de Laar, Ingrid M.B.H., additional, Tesselaar, Coranne D., additional, Turner, Clesson, additional, Goldenberg, Alice, additional, Patrier, Sophie, additional, Thevenon, Julien, additional, Pinelli, Michele, additional, Brunetti-Pierri, Nicola, additional, Prchalová, Darina, additional, Havlovicová, Markéta, additional, Vlckova, Markéta, additional, Sedláček, Zdeněk, additional, Lopez, Elena, additional, Ragoussis, Vassilis, additional, Pagnamenta, Alistair T., additional, Kini, Usha, additional, Vos, Harmjan R., additional, van Es, Robert M., additional, van Schaik, Richard F.M.A., additional, van Essen, Ton A.J., additional, Kibaek, Maria, additional, Taylor, Jenny C., additional, Sullivan, Jennifer, additional, Shashi, Vandana, additional, Petrovski, Slave, additional, Fagerberg, Christina, additional, Martin, Donna M., additional, van Gassen, Koen L.I., additional, Pfundt, Rolph, additional, Falk, Marni J., additional, McCormick, Elizabeth M., additional, Timmers, H.T. Marc, additional, and van Hasselt, Peter M., additional
Published: 2019
Full Text: View/download PDF

27. De Novo Variants Disturbing the Transactivation Capacity of POU3F3 Cause a Characteristic Neurodevelopmental Disorder

Author: Snijders Blok, Lot, primary, Kleefstra, Tjitske, additional, Venselaar, Hanka, additional, Maas, Saskia, additional, Kroes, Hester Y., additional, Lachmeijer, Augusta M.A., additional, van Gassen, Koen L.I., additional, Firth, Helen V., additional, Tomkins, Susan, additional, Bodek, Simon, additional, Õunap, Katrin, additional, Wojcik, Monica H., additional, Cunniff, Christopher, additional, Bergstrom, Katherine, additional, Powis, Zoë, additional, Tang, Sha, additional, Shinde, Deepali N., additional, Au, Catherine, additional, Iglesias, Alejandro D., additional, Izumi, Kosuke, additional, Leonard, Jacqueline, additional, Abou Tayoun, Ahmad, additional, Baker, Samuel W., additional, Tartaglia, Marco, additional, Niceta, Marcello, additional, Dentici, Maria Lisa, additional, Okamoto, Nobuhiko, additional, Miyake, Noriko, additional, Matsumoto, Naomichi, additional, Vitobello, Antonio, additional, Faivre, Laurence, additional, Philippe, Christophe, additional, Gilissen, Christian, additional, Wiel, Laurens, additional, Pfundt, Rolph, additional, Deriziotis, Pelagia, additional, Brunner, Han G., additional, and Fisher, Simon E., additional
Published: 2019
Full Text: View/download PDF

28. Aminoacyl-tRNA synthetase deficiencies in search of common themes

Author: Fuchs, Sabine A., primary, Schene, Imre F., additional, Kok, Gautam, additional, Jansen, Jurriaan M., additional, Nikkels, Peter G.J., additional, van Gassen, Koen L.I., additional, Terheggen-Lagro, Suzanne W.J., additional, van der Crabben, Saskia N., additional, Hoeks, Sanne E., additional, Niers, Laetitia E.M., additional, Wolf, Nicole I., additional, de Vries, Maaike C., additional, Koolen, David A., additional, Houwen, Roderick H.J., additional, Mulder, Margot F., additional, and van Hasselt, Peter M., additional
Published: 2019
Full Text: View/download PDF

29. Lysosomal Signaling Licenses Embryonic Stem Cell Differentiation via Inactivation of Tfe3

Author: Villegas, Florian, primary, Lehalle, Daphné, additional, Mayer, Daniela, additional, Rittirsch, Melanie, additional, Stadler, Michael B., additional, Zinner, Marietta, additional, Olivieri, Daniel, additional, Vabres, Pierre, additional, Duplomb-Jego, Laurence, additional, De Bont, Eveline S.J.M., additional, Duffourd, Yannis, additional, Duijkers, Floor, additional, Avila, Magali, additional, Geneviève, David, additional, Houcinat, Nada, additional, Jouan, Thibaud, additional, Kuentz, Paul, additional, Lichtenbelt, Klaske D., additional, Thauvin-Robinet, Christel, additional, St-Onge, Judith, additional, Thevenon, Julien, additional, van Gassen, Koen L.I., additional, van Haelst, Mieke, additional, van Koningsbruggen, Silvana, additional, Hess, Daniel, additional, Smallwood, Sebastien A., additional, Rivière, Jean-Baptiste, additional, Faivre, Laurence, additional, and Betschinger, Joerg, additional
Published: 2019
Full Text: View/download PDF

30. Expanding the Spectrum of BAF-Related Disorders: De Novo Variants in SMARCC2 Cause a Syndrome with Intellectual Disability and Developmental Delay

Author: Machol, Keren, primary, Rousseau, Justine, additional, Ehresmann, Sophie, additional, Garcia, Thomas, additional, Nguyen, Thi Tuyet Mai, additional, Spillmann, Rebecca C., additional, Sullivan, Jennifer A., additional, Shashi, Vandana, additional, Jiang, Yong-hui, additional, Stong, Nicholas, additional, Fiala, Elise, additional, Willing, Marcia, additional, Pfundt, Rolph, additional, Kleefstra, Tjitske, additional, Cho, Megan T., additional, McLaughlin, Heather, additional, Rosello Piera, Monica, additional, Orellana, Carmen, additional, Martínez, Francisco, additional, Caro-Llopis, Alfonso, additional, Monfort, Sandra, additional, Roscioli, Tony, additional, Nixon, Cheng Yee, additional, Buckley, Michael F., additional, Turner, Anne, additional, Jones, Wendy D., additional, van Hasselt, Peter M., additional, Hofstede, Floris C., additional, van Gassen, Koen L.I., additional, Brooks, Alice S., additional, van Slegtenhorst, Marjon A., additional, Lachlan, Katherine, additional, Sebastian, Jessica, additional, Madan-Khetarpal, Suneeta, additional, Sonal, Desai, additional, Sakkubai, Naidu, additional, Thevenon, Julien, additional, Faivre, Laurence, additional, Maurel, Alice, additional, Petrovski, Slavé, additional, Krantz, Ian D., additional, Tarpinian, Jennifer M., additional, Rosenfeld, Jill A., additional, Lee, Brendan H., additional, Campeau, Philippe M., additional, Adams, David R., additional, Alejandro, Mercedes E., additional, Allard, Patrick, additional, Azamian, Mahshid S., additional, Bacino, Carlos A., additional, Balasubramanyam, Ashok, additional, Barseghyan, Hayk, additional, Batzli, Gabriel F., additional, Beggs, Alan H., additional, Behnam, Babak, additional, Bican, Anna, additional, Bick, David P., additional, Birch, Camille L., additional, Bonner, Devon, additional, Boone, Braden E., additional, Bostwick, Bret L., additional, Briere, Lauren C., additional, Brown, Donna M., additional, Brush, Matthew, additional, Burke, Elizabeth A., additional, Burrage, Lindsay C., additional, Chen, Shan, additional, Clark, Gary D., additional, Coakley, Terra R., additional, Cogan, Joy D., additional, Cooper, Cynthia M., additional, Cope, Heidi, additional, Craigen, William J., additional, D’Souza, Precilla, additional, Davids, Mariska, additional, Dayal, Jyoti G., additional, Dell’Angelica, Esteban C., additional, Dhar, Shweta U., additional, Dillon, Ani, additional, Dipple, Katrina M., additional, Donnell-Fink, Laurel A., additional, Dorrani, Naghmeh, additional, Dorset, Daniel C., additional, Douine, Emilie D., additional, Draper, David D., additional, Eckstein, David J., additional, Emrick, Lisa T., additional, Eng, Christine M., additional, Eskin, Ascia, additional, Esteves, Cecilia, additional, Estwick, Tyra, additional, Ferreira, Carlos, additional, Fogel, Brent L., additional, Friedman, Noah D., additional, Gahl, William A., additional, Glanton, Emily, additional, Godfrey, Rena A., additional, Goldstein, David B., additional, Gould, Sarah E., additional, Gourdine, Jean-Philippe F., additional, Groden, Catherine A., additional, Gropman, Andrea L., additional, Haendel, Melissa, additional, Hamid, Rizwan, additional, Hanchard, Neil A., additional, Handley, Lori H., additional, Herzog, Matthew R., additional, Holm, Ingrid A., additional, Hom, Jason, additional, Howerton, Ellen M., additional, Huang, Yong, additional, Jacob, Howard J., additional, Jain, Mahim, additional, Johnston, Jean M., additional, Jones, Angela L., additional, Kohane, Isaac S., additional, Krasnewich, Donna M., additional, Krieg, Elizabeth L., additional, Krier, Joel B., additional, Lalani, Seema R., additional, Lau, C. Christopher, additional, Lazar, Jozef, additional, Lee, Hane, additional, Levy, Shawn E., additional, Lewis, Richard A., additional, Lincoln, Sharyn A., additional, Lipson, Allen, 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, Martínez-Agosto, Julian A., additional, Marwaha, Shruti, additional, May, Thomas, additional, McConkie-Rosell, Allyn, additional, McCormack, Colleen E., additional, McCray, Alexa T., additional, Might, Matthew, additional, Moretti, Paolo M., additional, Morimoto, Marie, additional, Mulvihill, John J., additional, Murphy, Jennifer L., additional, Muzny, Donna M., additional, Nehrebecky, Michele E., additional, Nelson, Stan F., additional, Newberry, J. Scott, additional, Newman, John H., additional, Nicholas, Sarah K., additional, Novacic, Donna, additional, Orange, Jordan S., additional, Pallais, J. Carl, additional, Palmer, Christina G.S., additional, Papp, Jeanette C., additional, Parker, Neil H., additional, Pena, Loren D.M., additional, Phillips, John A., additional, Posey, Jennifer E., additional, Postlethwait, John H., additional, Potocki, Lorraine, additional, Pusey, Barbara N., additional, Reuter, Chloe M., additional, Robertson, Amy K., additional, Rodan, Lance H., additional, Sampson, Jacinda B., additional, Samson, Susan L., additional, Schoch, Kelly, additional, Schroeder, Molly C., additional, Scott, Daryl A., additional, Sharma, Prashant, additional, Signer, Rebecca, additional, Silverman, Edwin K., additional, Sinsheimer, Janet S., additional, Smith, Kevin S., additional, Splinter, Kimberly, additional, Stoler, Joan M., additional, Sweetser, David A., additional, Tifft, Cynthia J., additional, Toro, Camilo, additional, Tran, Alyssa A., additional, Urv, Tiina K., additional, Valivullah, Zaheer M., additional, Vilain, Eric, additional, Vogel, Tiphanie P., additional, Wahl, Colleen E., additional, Walley, Nicole M., additional, Walsh, Chris A., additional, Ward, Patricia A., additional, Waters, Katrina M., additional, Westerfield, Monte, additional, Wise, Anastasia L., additional, Wolfe, Lynne A., additional, Worthey, Elizabeth A., additional, Yamamoto, Shinya, additional, Yang, Yaping, additional, Yu, Guoyun, additional, Zastrow, Diane B., additional, and Zheng, Allison, additional
Published: 2019
Full Text: View/download PDF

31. Bi-allelic mutations in TRAPPC2L result in a neurodevelopmental disorder and have an impact on RAB11 in fibroblasts

Author: Milev, Miroslav P., Graziano, Claudio, Karall, Daniela, Kuper, Willemijn F.E., Al-Deri, Noraldin, Cordelli, Duccio Maria, Haack, Tobias B., Danhauser, Katharina, Iuso, Arcangela, Palombo, Flavia, Pippucci, Tommaso, Prokisch, Holger, Saint-Dic, Djenann, Seri, Marco, Stanga, Daniela, Cenacchi, Giovanna, Van Gassen, Koen L.I., Zschocke, Johannes, Fauth, Christine, Mayr, Johannes A., Sacher, Michael, Van Hasselt, Peter M., Milev, Miroslav P., Graziano, Claudio, Karall, Daniela, Kuper, Willemijn F.E., Al-Deri, Noraldin, Cordelli, Duccio Maria, Haack, Tobias B., Danhauser, Katharina, Iuso, Arcangela, Palombo, Flavia, Pippucci, Tommaso, Prokisch, Holger, Saint-Dic, Djenann, Seri, Marco, Stanga, Daniela, Cenacchi, Giovanna, Van Gassen, Koen L.I., Zschocke, Johannes, Fauth, Christine, Mayr, Johannes A., Sacher, Michael, and Van Hasselt, Peter M.
Published: 2018

32. Bi-allelic mutations in TRAPPC2L result in a neurodevelopmental disorder and have an impact on RAB11 in fibroblasts

Author: Metabole ziekten onderzoek 1, Genetica, Genetica Sectie Genoomdiagnostiek, Child Health, Cluster C, Metabole ziekten patientenzorg, Milev, Miroslav P., Graziano, Claudio, Karall, Daniela, Kuper, Willemijn F.E., Al-Deri, Noraldin, Cordelli, Duccio Maria, Haack, Tobias B., Danhauser, Katharina, Iuso, Arcangela, Palombo, Flavia, Pippucci, Tommaso, Prokisch, Holger, Saint-Dic, Djenann, Seri, Marco, Stanga, Daniela, Cenacchi, Giovanna, Van Gassen, Koen L.I., Zschocke, Johannes, Fauth, Christine, Mayr, Johannes A., Sacher, Michael, Van Hasselt, Peter M., Metabole ziekten onderzoek 1, Genetica, Genetica Sectie Genoomdiagnostiek, Child Health, Cluster C, Metabole ziekten patientenzorg, Milev, Miroslav P., Graziano, Claudio, Karall, Daniela, Kuper, Willemijn F.E., Al-Deri, Noraldin, Cordelli, Duccio Maria, Haack, Tobias B., Danhauser, Katharina, Iuso, Arcangela, Palombo, Flavia, Pippucci, Tommaso, Prokisch, Holger, Saint-Dic, Djenann, Seri, Marco, Stanga, Daniela, Cenacchi, Giovanna, Van Gassen, Koen L.I., Zschocke, Johannes, Fauth, Christine, Mayr, Johannes A., Sacher, Michael, and Van Hasselt, Peter M.
Published: 2018

33. Is FGF13 a major contributor to genetic epilepsy with febrile seizures plus?

Author: Rigbye, Kristin A., van Hasselt, Peter M., Burgess, Rosemary, Damiano, John A., Mullen, Saul A., Petrovski, Slavé, Puranam, Ram S., van Gassen, Koen L.I., Gecz, Jozef, Scheffer, Ingrid E., McNamara, James O., Berkovic, Samuel F., and Hildebrand, Michael S.
Published: 2016
Full Text: View/download PDF

34. Rare GABRA3 variants are associated with epileptic seizures, encephalopathy and dysmorphic features

Author: Niturad, Cristina Elena, Lev, Dorit, Kalscheuer, Vera M, Charzewska, Agnieszka, Schubert, Julian, Lerman-Sagie, Tally, Kroes, Hester Y., Oegema, Renske, Traverso, Monica, Specchio, Nicola, Lassota, Maria, Chelly, Jamel, Bennett-Back, Odeya, Carmi, Nirit, Koffler-Brill, Tal, Iacomino, Michele, Trivisano, Marina, Capovilla, Giuseppe, Striano, Pasquale, Nawara, Magdalena, Rzoca, Sylwia, Fischer, Ute, Bienek, Melanie, Jensen, Corinna, Hu, Hao, Thiele, Holger, Altmüller, Janine, Krause, Roland, May, Patrick, Becker, Felicitas, Balling, Rudi, Biskup, Saskia, Haas, Stefan A., Nürnberg, Peter, Van Gassen, Koen L.I., Lerche, Holger, Zara, Federico, Maljevic, Snezana, and Leshinsky-Silver, Esther
Subjects: Adult, Male, Patch-Clamp Techniques, Adolescent, Developmental Disabilities, Clinical Neurology, Nystagmus, Pathologic, Nystagmus, Xenopus laevis, Young Adult, X-linked disease, Intellectual Disability, Receptors, Site-Directed, Animals, Humans, neuronal inhibition, Preschool, Child, gamma-Aminobutyric Acid, Pathologic, Brain Diseases, Epilepsy, epilepsy, intellectual disability, Child, Preschool, Cleft Palate, Female, Genetic Variation, Microcephaly, Mutagenesis, Site-Directed, Oocytes, Pedigree, Receptors, GABA-A, Syndrome, Facies, Neurology (clinical), GABA-A, Mutagenesis
Abstract: Genetic epilepsies are caused by mutations in a range of different genes, many of them encoding ion channels, receptors or transporters. While the number of detected variants and genes increased dramatically in the recent years, pleiotropic effects have also been recognized, revealing that clinical syndromes with various degrees of severity arise from a single gene, a single mutation, or from different mutations showing similar functional defects. Accordingly, several genes coding for GABA A receptor subunits have been linked to a spectrum of benign to severe epileptic disorders and it was shown that a loss of function presents the major correlated pathomechanism. Here, we identified six variants in GABRA3 encoding the α 3 -subunit of the GABA A receptor. This gene is located on chromosome Xq28 and has not been previously associated with human disease. Five missense variants and one microduplication were detected in four families and two sporadic cases presenting with a range of epileptic seizure types, a varying degree of intellectual disability and developmental delay, sometimes with dysmorphic features or nystagmus. The variants co-segregated mostly but not completely with the phenotype in the families, indicating in some cases incomplete penetrance, involvement of other genes, or presence of phenocopies. Overall, males were more severely affected and there were three asymptomatic female mutation carriers compared to only one male without a clinical phenotype. X-chromosome inactivation studies could not explain the phenotypic variability in females. Three detected missense variants are localized in the extracellular GABA-binding NH 2 -terminus, one in the M2-M3 linker and one in the M4 transmembrane segment of the α 3 -subunit. Functional studies in Xenopus laevis oocytes revealed a variable but significant reduction of GABA-evoked anion currents for all mutants compared to wild-type receptors. The degree of current reduction correlated partially with the phenotype. The microduplication disrupted GABRA3 expression in fibroblasts of the affected patient. In summary, our results reveal that rare loss-of-function variants in GABRA3 increase the risk for a varying combination of epilepsy, intellectual disability/developmental delay and dysmorphic features, presenting in some pedigrees with an X-linked inheritance pattern.
Published: 2017

35. Mutations in N-acetylglucosamine (O-GlcNAc) transferase in patients with X-linked intellectual disability

Author: Willems, Anke P., Gundogdu, Mehmet, Kempers, Marlies J.E., Giltay, Jacques C, Pfundt, Rolph, Elferink, Martin, Loza, Bettina F., Fuijkschot, Joris, Ferenbach, Andrew T., Van Gassen, Koen L.I., van Aalten, Daan M. F., and Lefeber, Dirk J.
Subjects: Male, X-linked Intellectual Disability, Molecular Bases of Disease, DNA, Cell Biology, metabolic disease, O-linked N-acetylglucosamine (O-GlcNAc) transferase (OGT), N-Acetylglucosaminyltransferases, glycosyltransferase, Biochemistry, Recombinant Proteins, Host Cell Factor 1 (HCF-1), O-GlcNAcylation, Congenital Disorders of Glycosylation, glycobiology, Child, Preschool, Intellectual Disability, Mutation, Humans, Cloning, Molecular, Child, Molecular Biology, Cells, Cultured
Abstract: N-Acetylglucosamine (O-GlcNAc) transferase (OGT) regulates protein O-GlcNAcylation, an essential and dynamic post-translational modification. The O-GlcNAc modification is present on numerous nuclear and cytosolic proteins and has been implicated in essential cellular functions such as signaling and gene expression. Accordingly, altered levels of protein O-GlcNAcylation have been associated with developmental defects and neurodegeneration. However, mutations in the OGT gene have not yet been functionally confirmed in humans. Here, we report on two hemizygous mutations in OGT in individuals with X-linked intellectual disability (XLID) and dysmorphic features: one missense mutation (p.Arg284Pro) and one mutation leading to a splicing defect (c.463–6T>G). Both mutations reside in the tetratricopeptide repeats of OGT that are essential for substrate recognition. We observed slightly reduced levels of OGT protein and reduced levels of its opposing enzyme O-GlcNAcase in both patient-derived fibroblasts, but global O-GlcNAc levels appeared to be unaffected. Our data suggest that mutant cells attempt to maintain global O-GlcNAcylation by down-regulating O-GlcNAcase expression. We also found that the c.463–6T>G mutation leads to aberrant mRNA splicing, but no stable truncated protein was detected in the corresponding patient-derived fibroblasts. Recombinant OGT bearing the p.Arg284Pro mutation was prone to unfolding and exhibited reduced glycosylation activity against a complex array of glycosylation substrates and proteolytic processing of the transcription factor host cell factor 1, which is also encoded by an XLID-associated gene. We conclude that defects in O-GlcNAc homeostasis and host cell factor 1 proteolysis may play roles in mediation of XLID in individuals with OGT mutations.
Published: 2017

36. De novo variants in SNAP25cause an early-onset developmental and epileptic encephalopathy

Author: Klöckner, Chiara, Sticht, Heinrich, Zacher, Pia, Popp, Bernt, Babcock, Holly E., Bakker, Dewi P., Barwick, Katy, Bonfert, Michaela V., Bönnemann, Carsten G., Brilstra, Eva H., Chung, Wendy K., Clarke, Angus J., Devine, Patrick, Donkervoort, Sandra, Fraser, Jamie L., Friedman, Jennifer, Gates, Alyssa, Ghoumid, Jamal, Hobson, Emma, Horvath, Gabriella, Keller-Ramey, Jennifer, Keren, Boris, Kurian, Manju A., Lee, Virgina, Leppig, Kathleen A., Lundgren, Johan, McDonald, Marie T., McLaughlin, Heather M., McTague, Amy, Mefford, Heather C., Mignot, Cyril, Mikati, Mohamad A., Nava, Caroline, Raymond, F. Lucy, Sampson, Julian R., Sanchis-Juan, Alba, Shashi, Vandana, Shieh, Joseph T.C., Shinawi, Marwan, Slavotinek, Anne, Stödberg, Tommy, Stong, Nicholas, Sullivan, Jennifer A., Taylor, Ashley C., Toler, Tomi L., van den Boogaard, Marie-José, van der Crabben, Saskia N., van Gassen, Koen L.I., van Jaarsveld, Richard H., Van Ziffle, Jessica, Wadley, Alexandrea F., Wagner, Matias, Wigby, Kristen, Wortmann, Saskia B., Zarate, Yuri A., Møller, Rikke S., Lemke, Johannes R., and Platzer, Konrad
Abstract: This study aims to provide a comprehensive description of the phenotypic and genotypic spectrum of SNAP25developmental and epileptic encephalopathy (SNAP25-DEE) by reviewing newly identified and previously reported individuals.
Published: 2021
Full Text: View/download PDF

37. Germline mutations affecting the histone H4 core cause a developmental syndrome by altering DNA damage response and cell cycle control

Author: Tessadori, Federico, Giltay, Jacques C., Hurst, Jane A., Massink, Maarten P., Duran, Karen, Vos, Harmjan R., van Es, Robert M., Scott, Richard H., Van Gassen, Koen L.I., Bakkers, Jeroen, Van Haaften, Gijs, Tessadori, Federico, Giltay, Jacques C., Hurst, Jane A., Massink, Maarten P., Duran, Karen, Vos, Harmjan R., van Es, Robert M., Scott, Richard H., Van Gassen, Koen L.I., Bakkers, Jeroen, and Van Haaften, Gijs
Published: 2017

38. MCM3AP in recessive Charcot-Marie-Tooth neuropathy and mild intellectual disability

Author: Ylikallio, Emil, Woldegebriel, Rosa, Tumiati, Manuela, Isohanni, Pirjo, Ryan, Monique M., Stark, Zornitza, Walsh, Maie, Sawyer, Sarah L., Bell, Katrina M., Oshlack, Alicia, Lockhart, Paul J., Shcherbii, Mariia, Estrada-Cuzcano, Alejandro, Atkinson, Derek, Hartley, Taila, Tetreault, Martine, Cuppen, Inge, Van Der Pol, W. Ludo, Candayan, Ayse, Battaloglu, Esra, Parman, Yesim, Van Gassen, Koen L.I., Van Den Boogaard, Marie José H., Boycott, Kym M., Kauppi, Liisa, Jordanova, Albena, Lönnqvist, Tuula, Tyynismaa, Henna, Ylikallio, Emil, Woldegebriel, Rosa, Tumiati, Manuela, Isohanni, Pirjo, Ryan, Monique M., Stark, Zornitza, Walsh, Maie, Sawyer, Sarah L., Bell, Katrina M., Oshlack, Alicia, Lockhart, Paul J., Shcherbii, Mariia, Estrada-Cuzcano, Alejandro, Atkinson, Derek, Hartley, Taila, Tetreault, Martine, Cuppen, Inge, Van Der Pol, W. Ludo, Candayan, Ayse, Battaloglu, Esra, Parman, Yesim, Van Gassen, Koen L.I., Van Den Boogaard, Marie José H., Boycott, Kym M., Kauppi, Liisa, Jordanova, Albena, Lönnqvist, Tuula, and Tyynismaa, Henna
Published: 2017

39. De Novo Mutations in YWHAG Cause Early-Onset Epilepsy

Author: Guella, Ilaria, McKenzie, Marna B., Evans, Daniel M., Buerki, Sarah E., Toyota, Eric B., Van Allen, Margot I., Adam, Shelin, Boelman, Cyrus, Bolbocean, Corneliu, Candido, Tara, Eydoux, Patrice, Horvath, Gabriella, Huh, Linda, Nelson, Tanya N., Sinclair, Graham, van Karnebeek, Clara D M, Vercauteren, Suzanne, Suri, Mohnish, Elmslie, Frances, Simon, Marleen E.H., van Gassen, Koen L.I., Héron, Delphine, Keren, Boris, Nava, Caroline, Connolly, Mary B., Demos, Michelle, Farrer, Matthew J., Epilepsy Genomics Study, Deciphering Developmental Disorders Study, Guella, Ilaria, McKenzie, Marna B., Evans, Daniel M., Buerki, Sarah E., Toyota, Eric B., Van Allen, Margot I., Adam, Shelin, Boelman, Cyrus, Bolbocean, Corneliu, Candido, Tara, Eydoux, Patrice, Horvath, Gabriella, Huh, Linda, Nelson, Tanya N., Sinclair, Graham, van Karnebeek, Clara D M, Vercauteren, Suzanne, Suri, Mohnish, Elmslie, Frances, Simon, Marleen E.H., van Gassen, Koen L.I., Héron, Delphine, Keren, Boris, Nava, Caroline, Connolly, Mary B., Demos, Michelle, Farrer, Matthew J., Epilepsy Genomics Study, and Deciphering Developmental Disorders Study
Published: 2017

40. WDR26 Haploinsufficiency Causes a Recognizable Syndrome of Intellectual Disability, Seizures, Abnormal Gait, and Distinctive Facial Features

Author: Skraban, Cara M, Wells, Constance F, Markose, Preetha, Cho, Megan T., Nesbitt, Addie I, Au, P Y Billie, Begtrup, Amber, Bernat, John A, Bird, Lynne M., Cao, Kajia, de Brouwer, Arjan P M, Denenberg, Elizabeth H, Douglas, Ganka, Gibson, Kristin M, Grand, Katheryn, Goldenberg, Alice, Innes, A. Micheil, Juusola, Jane, Kempers, Marlies, Kinning, Esther, Markie, David M, Owens, Martina M, Payne, Katelyn, Person, Richard, Pfundt, Rolph, Stocco, Amber, Turner, Claire L S, Verbeek, Nienke E., Walsh, Laurence E, Warner, Taylor C, Wheeler, Patricia G., Wieczorek, Dagmar, Wilkens, Alisha B, Zonneveld-Huijssoon, Evelien, Kleefstra, Tjitske, Robertson, Stephen P., Santani, Avni, van Gassen, Koen L.I., Deardorff, Matthew A, Skraban, Cara M, Wells, Constance F, Markose, Preetha, Cho, Megan T., Nesbitt, Addie I, Au, P Y Billie, Begtrup, Amber, Bernat, John A, Bird, Lynne M., Cao, Kajia, de Brouwer, Arjan P M, Denenberg, Elizabeth H, Douglas, Ganka, Gibson, Kristin M, Grand, Katheryn, Goldenberg, Alice, Innes, A. Micheil, Juusola, Jane, Kempers, Marlies, Kinning, Esther, Markie, David M, Owens, Martina M, Payne, Katelyn, Person, Richard, Pfundt, Rolph, Stocco, Amber, Turner, Claire L S, Verbeek, Nienke E., Walsh, Laurence E, Warner, Taylor C, Wheeler, Patricia G., Wieczorek, Dagmar, Wilkens, Alisha B, Zonneveld-Huijssoon, Evelien, Kleefstra, Tjitske, Robertson, Stephen P., Santani, Avni, van Gassen, Koen L.I., and Deardorff, Matthew A
Published: 2017

41. Germline mutations affecting the histone H4 core cause a developmental syndrome by altering DNA damage response and cell cycle control

Author: Hubrecht Institute with UMC, Genetica, CMM, Genetica Klinische Genetica, Child Health, Genetica Groep Van Haaften, CMM Groep Burgering, Cancer, Genetica Sectie Genoomdiagnostiek, Medische Fysiologie, Circulatory Health, CMM Sectie Genomics and Bioinformatics, Tessadori, Federico, Giltay, Jacques C., Hurst, Jane A., Massink, Maarten P., Duran, Karen, Vos, Harmjan R., van Es, Robert M., Scott, Richard H., Van Gassen, Koen L.I., Bakkers, Jeroen, Van Haaften, Gijs, Hubrecht Institute with UMC, Genetica, CMM, Genetica Klinische Genetica, Child Health, Genetica Groep Van Haaften, CMM Groep Burgering, Cancer, Genetica Sectie Genoomdiagnostiek, Medische Fysiologie, Circulatory Health, CMM Sectie Genomics and Bioinformatics, Tessadori, Federico, Giltay, Jacques C., Hurst, Jane A., Massink, Maarten P., Duran, Karen, Vos, Harmjan R., van Es, Robert M., Scott, Richard H., Van Gassen, Koen L.I., Bakkers, Jeroen, and Van Haaften, Gijs
Published: 2017

42. MCM3AP in recessive Charcot-Marie-Tooth neuropathy and mild intellectual disability

Author: UMC Utrecht, ZL Kinder Ner en Nec Medisch, Brain, ZL Neuromusculaire Ziekten Medisch, Genetica Sectie Genoomdiagnostiek, Child Health, Genetica Klinische Genetica, Ylikallio, Emil, Woldegebriel, Rosa, Tumiati, Manuela, Isohanni, Pirjo, Ryan, Monique M., Stark, Zornitza, Walsh, Maie, Sawyer, Sarah L., Bell, Katrina M., Oshlack, Alicia, Lockhart, Paul J., Shcherbii, Mariia, Estrada-Cuzcano, Alejandro, Atkinson, Derek, Hartley, Taila, Tetreault, Martine, Cuppen, Inge, Van Der Pol, W. Ludo, Candayan, Ayse, Battaloglu, Esra, Parman, Yesim, Van Gassen, Koen L.I., Van Den Boogaard, Marie José H., Boycott, Kym M., Kauppi, Liisa, Jordanova, Albena, Lönnqvist, Tuula, Tyynismaa, Henna, UMC Utrecht, ZL Kinder Ner en Nec Medisch, Brain, ZL Neuromusculaire Ziekten Medisch, Genetica Sectie Genoomdiagnostiek, Child Health, Genetica Klinische Genetica, Ylikallio, Emil, Woldegebriel, Rosa, Tumiati, Manuela, Isohanni, Pirjo, Ryan, Monique M., Stark, Zornitza, Walsh, Maie, Sawyer, Sarah L., Bell, Katrina M., Oshlack, Alicia, Lockhart, Paul J., Shcherbii, Mariia, Estrada-Cuzcano, Alejandro, Atkinson, Derek, Hartley, Taila, Tetreault, Martine, Cuppen, Inge, Van Der Pol, W. Ludo, Candayan, Ayse, Battaloglu, Esra, Parman, Yesim, Van Gassen, Koen L.I., Van Den Boogaard, Marie José H., Boycott, Kym M., Kauppi, Liisa, Jordanova, Albena, Lönnqvist, Tuula, and Tyynismaa, Henna
Published: 2017

43. De Novo Mutations in YWHAG Cause Early-Onset Epilepsy

Author: UMC Utrecht, Genetica Klinische Genetica, Genetica Sectie Genoomdiagnostiek, Child Health, Guella, Ilaria, McKenzie, Marna B., Evans, Daniel M., Buerki, Sarah E., Toyota, Eric B., Van Allen, Margot I., Adam, Shelin, Boelman, Cyrus, Bolbocean, Corneliu, Candido, Tara, Eydoux, Patrice, Horvath, Gabriella, Huh, Linda, Nelson, Tanya N., Sinclair, Graham, van Karnebeek, Clara D M, Vercauteren, Suzanne, Suri, Mohnish, Elmslie, Frances, Simon, Marleen E.H., van Gassen, Koen L.I., Héron, Delphine, Keren, Boris, Nava, Caroline, Connolly, Mary B., Demos, Michelle, Farrer, Matthew J., Epilepsy Genomics Study, Deciphering Developmental Disorders Study, UMC Utrecht, Genetica Klinische Genetica, Genetica Sectie Genoomdiagnostiek, Child Health, Guella, Ilaria, McKenzie, Marna B., Evans, Daniel M., Buerki, Sarah E., Toyota, Eric B., Van Allen, Margot I., Adam, Shelin, Boelman, Cyrus, Bolbocean, Corneliu, Candido, Tara, Eydoux, Patrice, Horvath, Gabriella, Huh, Linda, Nelson, Tanya N., Sinclair, Graham, van Karnebeek, Clara D M, Vercauteren, Suzanne, Suri, Mohnish, Elmslie, Frances, Simon, Marleen E.H., van Gassen, Koen L.I., Héron, Delphine, Keren, Boris, Nava, Caroline, Connolly, Mary B., Demos, Michelle, Farrer, Matthew J., Epilepsy Genomics Study, and Deciphering Developmental Disorders Study
Published: 2017

44. Mutations in N-acetylglucosamine (O-GlcNAc) transferase in patients with X-linked intellectual disability

Author: Genetica Klinische Genetica, Child Health, Genetica, Genetica Medische Informatica, Genetica Sectie Genoomdiagnostiek, Willems, Anke P., Gundogdu, Mehmet, Kempers, Marlies J.E., Giltay, Jacques C, Pfundt, Rolph, Elferink, Martin, Loza, Bettina F., Fuijkschot, Joris, Ferenbach, Andrew T., Van Gassen, Koen L.I., van Aalten, Daan M. F., Lefeber, Dirk J., Genetica Klinische Genetica, Child Health, Genetica, Genetica Medische Informatica, Genetica Sectie Genoomdiagnostiek, Willems, Anke P., Gundogdu, Mehmet, Kempers, Marlies J.E., Giltay, Jacques C, Pfundt, Rolph, Elferink, Martin, Loza, Bettina F., Fuijkschot, Joris, Ferenbach, Andrew T., Van Gassen, Koen L.I., van Aalten, Daan M. F., and Lefeber, Dirk J.
Published: 2017

45. WDR26 Haploinsufficiency Causes a Recognizable Syndrome of Intellectual Disability, Seizures, Abnormal Gait, and Distinctive Facial Features

Author: Genetica, Genetica Klinische Genetica, Child Health, Genetica Sectie Genoomdiagnostiek, Skraban, Cara M, Wells, Constance F, Markose, Preetha, Cho, Megan T., Nesbitt, Addie I, Au, P Y Billie, Begtrup, Amber, Bernat, John A, Bird, Lynne M., Cao, Kajia, de Brouwer, Arjan P M, Denenberg, Elizabeth H, Douglas, Ganka, Gibson, Kristin M, Grand, Katheryn, Goldenberg, Alice, Innes, A. Micheil, Juusola, Jane, Kempers, Marlies, Kinning, Esther, Markie, David M, Owens, Martina M, Payne, Katelyn, Person, Richard, Pfundt, Rolph, Stocco, Amber, Turner, Claire L S, Verbeek, Nienke E., Walsh, Laurence E, Warner, Taylor C, Wheeler, Patricia G., Wieczorek, Dagmar, Wilkens, Alisha B, Zonneveld-Huijssoon, Evelien, Kleefstra, Tjitske, Robertson, Stephen P., Santani, Avni, van Gassen, Koen L.I., Deardorff, Matthew A, Genetica, Genetica Klinische Genetica, Child Health, Genetica Sectie Genoomdiagnostiek, Skraban, Cara M, Wells, Constance F, Markose, Preetha, Cho, Megan T., Nesbitt, Addie I, Au, P Y Billie, Begtrup, Amber, Bernat, John A, Bird, Lynne M., Cao, Kajia, de Brouwer, Arjan P M, Denenberg, Elizabeth H, Douglas, Ganka, Gibson, Kristin M, Grand, Katheryn, Goldenberg, Alice, Innes, A. Micheil, Juusola, Jane, Kempers, Marlies, Kinning, Esther, Markie, David M, Owens, Martina M, Payne, Katelyn, Person, Richard, Pfundt, Rolph, Stocco, Amber, Turner, Claire L S, Verbeek, Nienke E., Walsh, Laurence E, Warner, Taylor C, Wheeler, Patricia G., Wieczorek, Dagmar, Wilkens, Alisha B, Zonneveld-Huijssoon, Evelien, Kleefstra, Tjitske, Robertson, Stephen P., Santani, Avni, van Gassen, Koen L.I., and Deardorff, Matthew A
Published: 2017

46. Rare GABRA3 variants are associated with epileptic seizures, encephalopathy and dysmorphic features

Author: Genetica, Genetica Klinische Genetica, Child Health, Brain, Genetica Sectie Genoomdiagnostiek, Niturad, Cristina Elena, Lev, Dorit, Kalscheuer, Vera M, Charzewska, Agnieszka, Schubert, Julian, Lerman-Sagie, Tally, Kroes, Hester Y., Oegema, Renske, Traverso, Monica, Specchio, Nicola, Lassota, Maria, Chelly, Jamel, Bennett-Back, Odeya, Carmi, Nirit, Koffler-Brill, Tal, Iacomino, Michele, Trivisano, Marina, Capovilla, Giuseppe, Striano, Pasquale, Nawara, Magdalena, Rzoca, Sylwia, Fischer, Ute, Bienek, Melanie, Jensen, Corinna, Hu, Hao, Thiele, Holger, Altmüller, Janine, Krause, Roland, May, Patrick, Becker, Felicitas, Balling, Rudi, Biskup, Saskia, Haas, Stefan A., Nürnberg, Peter, Van Gassen, Koen L.I., Lerche, Holger, Zara, Federico, Maljevic, Snezana, Leshinsky-Silver, Esther, Genetica, Genetica Klinische Genetica, Child Health, Brain, Genetica Sectie Genoomdiagnostiek, Niturad, Cristina Elena, Lev, Dorit, Kalscheuer, Vera M, Charzewska, Agnieszka, Schubert, Julian, Lerman-Sagie, Tally, Kroes, Hester Y., Oegema, Renske, Traverso, Monica, Specchio, Nicola, Lassota, Maria, Chelly, Jamel, Bennett-Back, Odeya, Carmi, Nirit, Koffler-Brill, Tal, Iacomino, Michele, Trivisano, Marina, Capovilla, Giuseppe, Striano, Pasquale, Nawara, Magdalena, Rzoca, Sylwia, Fischer, Ute, Bienek, Melanie, Jensen, Corinna, Hu, Hao, Thiele, Holger, Altmüller, Janine, Krause, Roland, May, Patrick, Becker, Felicitas, Balling, Rudi, Biskup, Saskia, Haas, Stefan A., Nürnberg, Peter, Van Gassen, Koen L.I., Lerche, Holger, Zara, Federico, Maljevic, Snezana, and Leshinsky-Silver, Esther
Published: 2017

47. De Novo Mutations in Protein Kinase Genes CAMK2A and CAMK2B Cause Intellectual Disability

Author: Küry, Sébastien, primary, van Woerden, Geeske M., additional, Besnard, Thomas, additional, Proietti Onori, Martina, additional, Latypova, Xénia, additional, Towne, Meghan C., additional, Cho, Megan T., additional, Prescott, Trine E., additional, Ploeg, Melissa A., additional, Sanders, Stephan, additional, Stessman, Holly A.F., additional, Pujol, Aurora, additional, Distel, Ben, additional, Robak, Laurie A., additional, Bernstein, Jonathan A., additional, Denommé-Pichon, Anne-Sophie, additional, Lesca, Gaëtan, additional, Sellars, Elizabeth A., additional, Berg, Jonathan, additional, Carré, Wilfrid, additional, Busk, Øyvind Løvold, additional, van Bon, Bregje W.M., additional, Waugh, Jeff L., additional, Deardorff, Matthew, additional, Hoganson, George E., additional, Bosanko, Katherine B., additional, Johnson, Diana S., additional, Dabir, Tabib, additional, Holla, Øystein Lunde, additional, Sarkar, Ajoy, additional, Tveten, Kristian, additional, de Bellescize, Julitta, additional, Braathen, Geir J., additional, Terhal, Paulien A., additional, Grange, Dorothy K., additional, van Haeringen, Arie, additional, Lam, Christina, additional, Mirzaa, Ghayda, additional, Burton, Jennifer, additional, Bhoj, Elizabeth J., additional, Douglas, Jessica, additional, Santani, Avni B., additional, Nesbitt, Addie I., additional, Helbig, Katherine L., additional, Andrews, Marisa V., additional, Begtrup, Amber, additional, Tang, Sha, additional, van Gassen, Koen L.I., additional, Juusola, Jane, additional, Foss, Kimberly, additional, Enns, Gregory M., additional, Moog, Ute, additional, Hinderhofer, Katrin, additional, Paramasivam, Nagarajan, additional, Lincoln, Sharyn, additional, Kusako, Brandon H., additional, Lindenbaum, Pierre, additional, Charpentier, Eric, additional, Nowak, Catherine B., additional, Cherot, Elouan, additional, Simonet, Thomas, additional, Ruivenkamp, Claudia A.L., additional, Hahn, Sihoun, additional, Brownstein, Catherine A., additional, Xia, Fan, additional, Schmitt, Sébastien, additional, Deb, Wallid, additional, Bonneau, Dominique, additional, Nizon, Mathilde, additional, Quinquis, Delphine, additional, Chelly, Jamel, additional, Rudolf, Gabrielle, additional, Sanlaville, Damien, additional, Parent, Philippe, additional, Gilbert-Dussardier, Brigitte, additional, Toutain, Annick, additional, Sutton, Vernon R., additional, Thies, Jenny, additional, Peart-Vissers, Lisenka E.L.M., additional, Boisseau, Pierre, additional, Vincent, Marie, additional, Grabrucker, Andreas M., additional, Dubourg, Christèle, additional, Tan, Wen-Hann, additional, Verbeek, Nienke E., additional, Granzow, Martin, additional, Santen, Gijs W.E., additional, Shendure, Jay, additional, Isidor, Bertrand, additional, Pasquier, Laurent, additional, Redon, Richard, additional, Yang, Yaping, additional, State, Matthew W., additional, Kleefstra, Tjitske, additional, Cogné, Benjamin, additional, Petrovski, Slavé, additional, Retterer, Kyle, additional, Eichler, Evan E., additional, Rosenfeld, Jill A., additional, Agrawal, Pankaj B., additional, Bézieau, Stéphane, additional, Odent, Sylvie, additional, Elgersma, Ype, additional, and Mercier, Sandra, additional
Published: 2017
Full Text: View/download PDF

48. De Novo Mutations in YWHAG Cause Early-Onset Epilepsy

Author: Guella, Ilaria, primary, McKenzie, Marna B., additional, Evans, Daniel M., additional, Buerki, Sarah E., additional, Toyota, Eric B., additional, Van Allen, Margot I., additional, Suri, Mohnish, additional, Elmslie, Frances, additional, Simon, Marleen E.H., additional, van Gassen, Koen L.I., additional, Héron, Delphine, additional, Keren, Boris, additional, Nava, Caroline, additional, Connolly, Mary B., additional, Demos, Michelle, additional, Farrer, Matthew J., additional, Adam, Shelin, additional, Boelman, Cyrus, additional, Bolbocean, Corneliu, additional, Candido, Tara, additional, Eydoux, Patrice, additional, Horvath, Gabriella, additional, Huh, Linda, additional, Nelson, Tanya N., additional, Sinclair, Graham, additional, van Karnebeek, Clara, additional, and Vercauteren, Suzanne, additional
Published: 2017
Full Text: View/download PDF

49. WDR26 Haploinsufficiency Causes a Recognizable Syndrome of Intellectual Disability, Seizures, Abnormal Gait, and Distinctive Facial Features

Author: Skraban, Cara M., primary, Wells, Constance F., additional, Markose, Preetha, additional, Cho, Megan T., additional, Nesbitt, Addie I., additional, Au, P.Y. Billie, additional, Begtrup, Amber, additional, Bernat, John A., additional, Bird, Lynne M., additional, Cao, Kajia, additional, de Brouwer, Arjan P.M., additional, Denenberg, Elizabeth H., additional, Douglas, Ganka, additional, Gibson, Kristin M., additional, Grand, Katheryn, additional, Goldenberg, Alice, additional, Innes, A. Micheil, additional, Juusola, Jane, additional, Kempers, Marlies, additional, Kinning, Esther, additional, Markie, David M., additional, Owens, Martina M., additional, Payne, Katelyn, additional, Person, Richard, additional, Pfundt, Rolph, additional, Stocco, Amber, additional, Turner, Claire L.S., additional, Verbeek, Nienke E., additional, Walsh, Laurence E., additional, Warner, Taylor C., additional, Wheeler, Patricia G., additional, Wieczorek, Dagmar, additional, Wilkens, Alisha B., additional, Zonneveld-Huijssoon, Evelien, additional, Kleefstra, Tjitske, additional, Robertson, Stephen P., additional, Santani, Avni, additional, van Gassen, Koen L.I., additional, and Deardorff, Matthew A., additional
Published: 2017
Full Text: View/download PDF

50. Mutations in MDH2, Encoding a Krebs Cycle Enzyme, Cause Early-Onset Severe Encephalopathy

Author: Ait-El-Mkadem, Samira, primary, Dayem-Quere, Manal, additional, Gusic, Mirjana, additional, Chaussenot, Annabelle, additional, Bannwarth, Sylvie, additional, François, Bérengère, additional, Genin, Emmanuelle C., additional, Fragaki, Konstantina, additional, Volker-Touw, Catharina L.M., additional, Vasnier, Christelle, additional, Serre, Valérie, additional, van Gassen, Koen L.I., additional, Lespinasse, Françoise, additional, Richter, Susan, additional, Eisenhofer, Graeme, additional, Rouzier, Cécile, additional, Mochel, Fanny, additional, De Saint-Martin, Anne, additional, Abi Warde, Marie-Thérèse, additional, de Sain-van der Velde, Monique G.M., additional, Jans, Judith J.M., additional, Amiel, Jeanne, additional, Avsec, Ziga, additional, Mertes, Christian, additional, Haack, Tobias B., additional, Strom, Tim, additional, Meitinger, Thomas, additional, Bonnen, Penelope E., additional, Taylor, Robert W., additional, Gagneur, Julien, additional, van Hasselt, Peter M., additional, Rötig, Agnès, additional, Delahodde, Agnès, additional, Prokisch, Holger, additional, Fuchs, Sabine A., additional, and Paquis-Flucklinger, Véronique, additional
Published: 2017
Full Text: View/download PDF

Catalog

Books, media, physical & digital resources

See catalog results

Searchworks

Select search scope, currently: Articles Catalog books, media & more in Jio Institute collections Articles journal articles & other e-resources

Search

Search Constraints

Refine your results

Search Limiters

Topic

Publication Year Range

Language

Publication Type

Journal

Database

Publisher

99 results on '"van Gassen, Koen L.I."'

Search Results

Catalog

Select search scope, currently: Articles

Catalog

books, media & more in Jio Institute collections

Articles

journal articles & other e-resources