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Daniëlle G.M. Bosch
erasmus mc rotterdam
20H-index
49Paper Count
1.3KCitation Count
Published Papers 17
Publication Date
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The clinical and molecular spectrum of the KDM6B-related neurodevelopmental disorder.png)
2025-10-18
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Dmitrijs Rots; Taryn E. Jakub; Crystal Keung; Adam Jackson; Siddharth Banka; Rolph Pfundt; Bert B.A. de Vries; Richard H. van Jaarsveld; Saskia M.J. Hopman; Ellen van Binsbergen; Irene Valenzuela; Maja Hempel; Tatjana Bierhals; Fanny Kortüm; Francois Lecoquierre; Alice Goldenberg; Jens Michael Hertz; Charlotte Brasch Andersen; Maria Kibæk; Eloise J. Prijoles; Roger E. Stevenson; David B. Everman; Wesley G. Patterson; Linyan Meng; Charul Gijavanekar; Karl De Dios; Shenela Lakhani; Tess Levy; Matias Wagner; Dagmar Wieczorek; Paul J. Benke; María Soledad Lopez Garcia; Renee Perrier; Sergio B. Sousa; Pedro M. Almeida; Maria José Simões; Bertrand Isidor; Wallid Deb; Andrew A. Schmanski; Omar Abdul-Rahman; Christophe Philippe; Ange-Line Bruel; Laurence Faivre; Antonio Vitobello; Christel Thauvin; Jeroen J. Smits; Livia Garavelli; Stefano G. Caraffi; Francesca Peluso; Laura Davis-Keppen; Dylan Platt; Erin Royer; Lisette Leeuwen; Margje Sinnema; Alexander P.A. Stegmann; Constance T.R.M. Stumpel; George E. Tiller; Daniëlle G.M. Bosch; Stephanus T. Potgieter; Shelagh Joss; Miranda Splitt; Simon Holden; Matina Prapa; Nicola Foulds; Sofia Douzgou; Kaija Puura; Regina Waltes; Andreas G. Chiocchetti; Christine M. Freitag; F. Kyle Satterstrom; Silvia De Rubeis; Joseph Buxbaum; Bruce D. Gelb; Aleksic Branko; Itaru Kushima; Jennifer Howe; Stephen W. Scherer; Alessia Arado; Chiara Baldo; Olivier Patat; Demeer Bénédicte; Diego Lopergolo; Filippo M. Santorelli; Tobias B. Haack; Andreas Dufke; Miriam Bertrand; Ruth J. Falb; Angelika Rieß; Peter Krieg; Stephanie Spranger; Maria Francesca Bedeschi; Maria Iascone; Sarah Josephi-Taylor; Tony Roscioli; Michael F. Buckley; Jan Liebelt; Aditi I. Dagli; Emmelien Aten; Anna C.E. Hurst; Alesha Hicks; Mohnish Suri; Ermal Aliu; Sunil Naik; Richard Sidlow; Juliette Coursimault; Gaël Nicolas; Hanna Küpper; Florence Petit; Veyan Ibrahim; Deniz Top; Francesca Di Cara; Raymond J. Louie; Elliot Stolerman; Han G. Brunner; Lisenka E.L.M. Vissers; Jamie M. Kramer; Tjitske Kleefstra
2025-10-180PREAI
Dmitrijs Rots; Taryn E. Jakub; Crystal Keung; Adam Jackson; Siddharth Banka; Rolph Pfundt; Bert B.A. de Vries; Richard H. van Jaarsveld; Saskia M.J. Hopman; Ellen van Binsbergen; Irene Valenzuela; Maja Hempel; Tatjana Bierhals; Fanny Kortüm; Francois Lecoquierre; Alice Goldenberg; Jens Michael Hertz; Charlotte Brasch Andersen; Maria Kibæk; Eloise J. Prijoles; Roger E. Stevenson; David B. Everman; Wesley G. Patterson; Linyan Meng; Charul Gijavanekar; Karl De Dios; Shenela Lakhani; Tess Levy; Matias Wagner; Dagmar Wieczorek; Paul J. Benke; María Soledad Lopez Garcia; Renee Perrier; Sergio B. Sousa; Pedro M. Almeida; Maria José Simões; Bertrand Isidor; Wallid Deb; Andrew A. Schmanski; Omar Abdul-Rahman; Christophe Philippe; Ange-Line Bruel; Laurence Faivre; Antonio Vitobello; Christel Thauvin; Jeroen J. Smits; Livia Garavelli; Stefano G. Caraffi; Francesca Peluso; Laura Davis-Keppen; Dylan Platt; Erin Royer; Lisette Leeuwen; Margje Sinnema; Alexander P.A. Stegmann; Constance T.R.M. Stumpel; George E. Tiller; Daniëlle G.M. Bosch; Stephanus T. Potgieter; Shelagh Joss; Miranda Splitt; Simon Holden; Matina Prapa; Nicola Foulds; Sofia Douzgou; Kaija Puura; Regina Waltes; Andreas G. Chiocchetti; Christine M. Freitag; F. Kyle Satterstrom; Silvia De Rubeis; Joseph Buxbaum; Bruce D. Gelb; Aleksic Branko; Itaru Kushima; Jennifer Howe; Stephen W. Scherer; Alessia Arado; Chiara Baldo; Olivier Patat; Demeer Bénédicte; Diego Lopergolo; Filippo M. Santorelli; Tobias B. Haack; Andreas Dufke; Miriam Bertrand; Ruth J. Falb; Angelika Rieß; Peter Krieg; Stephanie Spranger; Maria Francesca Bedeschi; Maria Iascone; Sarah Josephi-Taylor; Tony Roscioli; Michael F. Buckley; Jan Liebelt; Aditi I. Dagli; Emmelien Aten; Anna C.E. Hurst; Alesha Hicks; Mohnish Suri; Ermal Aliu; Sunil Naik; Richard Sidlow; Juliette Coursimault; Gaël Nicolas; Hanna Küpper; Florence Petit; Veyan Ibrahim; Deniz Top; Francesca Di Cara; Raymond J. Louie; Elliot Stolerman; Han G. Brunner; Lisenka E.L.M. Vissers; Jamie M. Kramer; Tjitske Kleefstra.png){kind=icon}
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Genetics in Medicine2025-05-240
OAAILinda A.J. Hendricks; Katja C.J. Verbeek; Janneke H.M. Schuurs-Hoeijmakers; Mirjam M. de Jong; Thera P. Links; Hilde Brems; Mio Aerden; Joan Brunet; Roser Lleuger-Pujol; Robert Hüneburg; Stefan Aretz; Chrystelle Colas; Marie-Charlotte Villy; Emma R. Woodward; D. Gareth Evans; Daniëlle G.M. Bosch; Stephany H. Donze; Lenka Foretová; Ana Blatnik; Edward M. Leter; Marc Tischkowitz; Arne Jahn; Robin de Putter; Juliette Dupont; Siri Briskemyr; Verena Steinke-Lange; Margherita Baldassarri; Violetta C. Anastasiadou; Arvīds Irmejs; Carla Oliveira; Rachel S. van der Post; Arjen R. Mensenkamp; Bianca Tesi; Ninni Mu; Patrick R. Benusiglio; Anna Gerasimenko; Giovanni Innella; Daniela Turchetti; Claude Houdayer; Maud Branchaud; Hildegunn Høberg Vetti; Marianne Tveit Haavind; Judith Balmaña; Maite Torres; Maurizio Genuardi; Arianna Panfili; Kjersti Jørgensen; Lovise Mæhle; Nicoline Hoogerbrugge; Janet R. Vos
Genetics in MedicineIF6.2
2025-05-240OAAILinda A.J. Hendricks; Katja C.J. Verbeek; Janneke H.M. Schuurs-Hoeijmakers; Mirjam M. de Jong; Thera P. Links; Hilde Brems; Mio Aerden; Joan Brunet; Roser Lleuger-Pujol; Robert Hüneburg; Stefan Aretz; Chrystelle Colas; Marie-Charlotte Villy; Emma R. Woodward; D. Gareth Evans; Daniëlle G.M. Bosch; Stephany H. Donze; Lenka Foretová; Ana Blatnik; Edward M. Leter; Marc Tischkowitz; Arne Jahn; Robin de Putter; Juliette Dupont; Siri Briskemyr; Verena Steinke-Lange; Margherita Baldassarri; Violetta C. Anastasiadou; Arvīds Irmejs; Carla Oliveira; Rachel S. van der Post; Arjen R. Mensenkamp; Bianca Tesi; Ninni Mu; Patrick R. Benusiglio; Anna Gerasimenko; Giovanni Innella; Daniela Turchetti; Claude Houdayer; Maud Branchaud; Hildegunn Høberg Vetti; Marianne Tveit Haavind; Judith Balmaña; Maite Torres; Maurizio Genuardi; Arianna Panfili; Kjersti Jørgensen; Lovise Mæhle; Nicoline Hoogerbrugge; Janet R. VosShareSaveThe detection of a strong episignature for Chung-Jansen syndrome, partially overlapping with Börjeson-Forssman-Lehmann and White-Kernohan syndromesHUMAN GENETICS2024-05-243OAAIVos, Niels; Haghshenas, Sadegheh; van der Laan, Liselot; Russel, Perle K. M.; Rooney, Kathleen; Levy, Michael A.; Relator, Raissa; Kerkhof, Jennifer; McConkey, Haley; Maas, Saskia M.; Vissers, Lisenka E. L. M.; de Vries, Bert B. A.; Pfundt, Rolph; Elting, Mariet W.; van Hagen, Johanna M.; Verbeek, Nienke E.; Jongmans, Marjolijn C. J.; Lakeman, Phillis; Rumping, Lynne; Bosch, Danielle G. M.; Vitobello, Antonio; Thauvin-Robinet, Christel; Faivre, Laurence; Nambot, Sophie; Garde, Aurore; Willems, Marjolaine; Genevieve, David; Nicolas, Gael; Busa, Tiffany; Toutain, Annick; Gerard, Marion; Bizaoui, Varoona; Isidor, Bertrand; Merla, Giuseppe; Accadia, Maria; Schwartz, Charles E.; Ounap, Katrin; Hoffer, Mariette J. V.; Nezarati, Marjan M.; van den Boogaard, Marie-Jose H.; Tedder, Matthew L.; Rogers, Curtis; Brusco, Alfredo; Ferrero, Giovanni B.; Spodenkiewicz, Marta; Sidlow, Richard; Mussa, Alessandro; Trajkova, Slavica; McCann, Emma; Mroczkowski, Henry J.; Jansen, Sandra; Donker-Kaat, Laura; Duijkers, Floor A. M.; Stuurman, Kyra E.; Mannens, Marcel M. A. M.; Alders, Marielle; Henneman, Peter; White, Susan M.; Sadikovic, Bekim; van Haelst, Mieke M.
HUMAN GENETICSIF3.6
2024-05-243OAAIVos, Niels; Haghshenas, Sadegheh; van der Laan, Liselot; Russel, Perle K. M.; Rooney, Kathleen; Levy, Michael A.; Relator, Raissa; Kerkhof, Jennifer; McConkey, Haley; Maas, Saskia M.; Vissers, Lisenka E. L. M.; de Vries, Bert B. A.; Pfundt, Rolph; Elting, Mariet W.; van Hagen, Johanna M.; Verbeek, Nienke E.; Jongmans, Marjolijn C. J.; Lakeman, Phillis; Rumping, Lynne; Bosch, Danielle G. M.; Vitobello, Antonio; Thauvin-Robinet, Christel; Faivre, Laurence; Nambot, Sophie; Garde, Aurore; Willems, Marjolaine; Genevieve, David; Nicolas, Gael; Busa, Tiffany; Toutain, Annick; Gerard, Marion; Bizaoui, Varoona; Isidor, Bertrand; Merla, Giuseppe; Accadia, Maria; Schwartz, Charles E.; Ounap, Katrin; Hoffer, Mariette J. V.; Nezarati, Marjan M.; van den Boogaard, Marie-Jose H.; Tedder, Matthew L.; Rogers, Curtis; Brusco, Alfredo; Ferrero, Giovanni B.; Spodenkiewicz, Marta; Sidlow, Richard; Mussa, Alessandro; Trajkova, Slavica; McCann, Emma; Mroczkowski, Henry J.; Jansen, Sandra; Donker-Kaat, Laura; Duijkers, Floor A. M.; Stuurman, Kyra E.; Mannens, Marcel M. A. M.; Alders, Marielle; Henneman, Peter; White, Susan M.; Sadikovic, Bekim; van Haelst, Mieke M.ShareSaveSpliceosome malfunction causes neurodevelopmental disorders with overlapping features2024-01-026OAAILi, Dong; Wang, Qin; Bayat, Allan; Battig, Mark R.; Zhou, Yijing; Bosch, Danielle G. M.; van Haaften, Gijs; Granger, Leslie; Petersen, Andrea K.; Perez-Jurado, Luis A.; Aznar-Lain, Gemma; Aneja, Anushree; Hancarova, Miroslava; Bendova, Sarka; Schwarz, Martin; Pourova, Radka Kremlikova; Sedlacek, Zdenek; Keena, Beth A.; March, Michael E.; Hou, Cuiping; O'Connor, Nora; Bhoj, Elizabeth J.; Harr, Margaret H.; Lemire, Gabrielle; Boycott, Kym M.; Towne, Meghan; Li, Megan; Tarnopolsky, Mark; Brady, Lauren; Parker, Michael J.; Faghfoury, Hanna; Parsley, Lea Kristin; Agolini, Emanuele; Dentici, Maria Lisa; Novelli, Antonio; Wright, Meredith; Palmquist, Rachel; Lai, Khanh; Scala, Marcello; Striano, Pasquale; Iacomino, Michele; Zara, Federico; Cooper, Annina; Maarup, Timothy J.; Byler, Melissa; Lebel, Robert Roger; Balci, Tugce B.; Louie, Raymond; Lyons, Michael; Douglas, Jessica; Nowak, Catherine; Afenjar, Alexandra; Hoyer, Juliane; Keren, Boris; Maas, Saskia M.; Motazacker, Mahdi M.; Martinez-Agosto, Julian A.; Rabani, Ahna M.; McCormick, Elizabeth M.; Falk, Marni J.; Ruggiero, Sarah M.; Helbig, Ingo; Moller, Rikke S.; Tessarollo, Lino; Ardori, Francesco Tomassoni; Palko, Mary Ellen; Hsieh, Tzung-Chien; Krawitz, Peter M.; Ganapathi, Mythily; Gelb, Bruce D.; Jobanputra, Vaidehi; Wilson, Ashley; Greally, John; Jacquemont, Sebastien; Jizi, Khadije; Bruel, Ange-Line; Quelin, Chloe; Misra, Vinod K.; Chick, Erika; Romano, Corrado; Greco, Donatella; Arena, Alessia; Morleo, Manuela; Nigro, Vincenzo; Seyama, Rie; Uchiyama, Yuri; Matsumoto, Naomichi; Taira, Ryoji; Tashiro, Katsuya; Sakai, Yasunari; Yigit, Gokhan; Wollnik, Bernd; Wagner, Michael; Kutsche, Barbara; Hurst, Anna C. E.; Thompson, Michelle L.; Schmidt, Ryan; Randolph, Linda; Spillmann, Rebecca C.; Shashi, Vandana; Higginbotham, Edward J.; Cordeiro, Dawn; Carnevale, Amanda; Costain, Gregory; Khan, Tayyaba; Funalot, Benoit; Mau-Them, Frederic Tran; Moya, Luis Fernandez Garcia; Garcia-Minaur, Sixto; Osmond, Matthew; Chad, Lauren; Quercia, Nada; Carrasco, Diana; Li, Chumei; Sanchez-Valle, Amarilis; Kelley, Meghan; Nizon, Mathilde; Jensson, Brynjar O.; Sulem, Patrick; Stefansson, Kari; Gorokhova, Svetlana; Busa, Tiffany; Rio, Marlene; Habdallah, Hamza Hadj; Lesieur-Sebellin, Marion; Amiel, Jeanne; Pingault, Veronique; Mercier, Sandra; Vincent, Marie; Philippe, Christophe; Fatus-Fauconnier, Clemence; Friend, Kathryn; Halligan, Rebecca K.; Biswas, Sunita; Rosser, Jane; Shoubridge, Cheryl; Corbett, Mark; Barnett, Christopher; Gecz, Jozef; Leppig, Kathleen; Slavotinek, Anne; Marcelis, Carlo; Pfundt, Rolph; de Vries, Bert B. A.; van Slegtenhorst, Marjon A.; Brooks, Alice S.; Cogne, Benjamin; Rambaud, Thomas; Tumer, Zeynep; Zackai, Elaine H.; Akizu, Naiara; Song, Yuanquan; Hakonarson, Hakon
2024-01-026OAAILi, Dong; Wang, Qin; Bayat, Allan; Battig, Mark R.; Zhou, Yijing; Bosch, Danielle G. M.; van Haaften, Gijs; Granger, Leslie; Petersen, Andrea K.; Perez-Jurado, Luis A.; Aznar-Lain, Gemma; Aneja, Anushree; Hancarova, Miroslava; Bendova, Sarka; Schwarz, Martin; Pourova, Radka Kremlikova; Sedlacek, Zdenek; Keena, Beth A.; March, Michael E.; Hou, Cuiping; O'Connor, Nora; Bhoj, Elizabeth J.; Harr, Margaret H.; Lemire, Gabrielle; Boycott, Kym M.; Towne, Meghan; Li, Megan; Tarnopolsky, Mark; Brady, Lauren; Parker, Michael J.; Faghfoury, Hanna; Parsley, Lea Kristin; Agolini, Emanuele; Dentici, Maria Lisa; Novelli, Antonio; Wright, Meredith; Palmquist, Rachel; Lai, Khanh; Scala, Marcello; Striano, Pasquale; Iacomino, Michele; Zara, Federico; Cooper, Annina; Maarup, Timothy J.; Byler, Melissa; Lebel, Robert Roger; Balci, Tugce B.; Louie, Raymond; Lyons, Michael; Douglas, Jessica; Nowak, Catherine; Afenjar, Alexandra; Hoyer, Juliane; Keren, Boris; Maas, Saskia M.; Motazacker, Mahdi M.; Martinez-Agosto, Julian A.; Rabani, Ahna M.; McCormick, Elizabeth M.; Falk, Marni J.; Ruggiero, Sarah M.; Helbig, Ingo; Moller, Rikke S.; Tessarollo, Lino; Ardori, Francesco Tomassoni; Palko, Mary Ellen; Hsieh, Tzung-Chien; Krawitz, Peter M.; Ganapathi, Mythily; Gelb, Bruce D.; Jobanputra, Vaidehi; Wilson, Ashley; Greally, John; Jacquemont, Sebastien; Jizi, Khadije; Bruel, Ange-Line; Quelin, Chloe; Misra, Vinod K.; Chick, Erika; Romano, Corrado; Greco, Donatella; Arena, Alessia; Morleo, Manuela; Nigro, Vincenzo; Seyama, Rie; Uchiyama, Yuri; Matsumoto, Naomichi; Taira, Ryoji; Tashiro, Katsuya; Sakai, Yasunari; Yigit, Gokhan; Wollnik, Bernd; Wagner, Michael; Kutsche, Barbara; Hurst, Anna C. E.; Thompson, Michelle L.; Schmidt, Ryan; Randolph, Linda; Spillmann, Rebecca C.; Shashi, Vandana; Higginbotham, Edward J.; Cordeiro, Dawn; Carnevale, Amanda; Costain, Gregory; Khan, Tayyaba; Funalot, Benoit; Mau-Them, Frederic Tran; Moya, Luis Fernandez Garcia; Garcia-Minaur, Sixto; Osmond, Matthew; Chad, Lauren; Quercia, Nada; Carrasco, Diana; Li, Chumei; Sanchez-Valle, Amarilis; Kelley, Meghan; Nizon, Mathilde; Jensson, Brynjar O.; Sulem, Patrick; Stefansson, Kari; Gorokhova, Svetlana; Busa, Tiffany; Rio, Marlene; Habdallah, Hamza Hadj; Lesieur-Sebellin, Marion; Amiel, Jeanne; Pingault, Veronique; Mercier, Sandra; Vincent, Marie; Philippe, Christophe; Fatus-Fauconnier, Clemence; Friend, Kathryn; Halligan, Rebecca K.; Biswas, Sunita; Rosser, Jane; Shoubridge, Cheryl; Corbett, Mark; Barnett, Christopher; Gecz, Jozef; Leppig, Kathleen; Slavotinek, Anne; Marcelis, Carlo; Pfundt, Rolph; de Vries, Bert B. A.; van Slegtenhorst, Marjon A.; Brooks, Alice S.; Cogne, Benjamin; Rambaud, Thomas; Tumer, Zeynep; Zackai, Elaine H.; Akizu, Naiara; Song, Yuanquan; Hakonarson, HakonShareSaveThe clinical and molecular spectrum of the KDM6B-related neurodevelopmental disorder2023-06-0111OAAIRots, Dmitrijs; Jakub, Taryn E.; Keung, Crystal; Lisenka, Vissers E. L. M.; Banka, Siddharth; Pfundt, Rolph; de Vries, Bert B. A.; van Jaarsveld, Richard H.; Hopman, Saskia M. J.; van Binsbergen, Ellen; Valenzuela, Irene; Hempel, Maja; Bierhals, Tatjana; Kortuem, Fanny; Lecoquierre, Francois; Goldenberg, Alice; Hertz, Jens Michael; Andersen, Charlotte Brasch; Kibaek, Maria; Prijoles, Eloise J.; Stevenson, Roger E.; Everman, David B.; Patterson, Wesley G.; Meng, Linyan; Gijavanekar, Charul; De Dios, Karl; Lakhani, Shenela; Levy, Tess; Wagner, Matias; Wieczorek, Dagmar; Benke, Paul J.; Garcia, Maria Soledad Lopez; Perrier, Renee; Sousa, Sergio B.; Almeida, Pedro M.; Simoes, Maria Jose; Isidor, Bertrand; Deb, Wallid; Schmanski, Andrew A.; Abdul-Rahman, Omar; Philippe, Christophe; Bruel, Ange-Line; Faivre, Laurence; Vitobello, Antonio; Thauvin, Christel; Smits, Jeroen J.; Garavelli, Livia; Caraffi, Stefano G.; Peluso, Francesca; Davis-Keppen, Laura; Platt, Dylan; Royer, Erin; Leeuwen, Lisette; Sinnema, Margje; Stegmann, Alexander P. A.; Stumpel, Constance T. R. M.; Tiller, George E.; Bosch, Danielle G. M.; Potgieter, Stephanus T.; Joss, Shelagh; Splitt, Miranda; Holden, Simon; Prapa, Matina; Foulds, Nicola; Douzgou, Sofia; Puura, Kaija; Waltes, Regina; Chiocchetti, Andreas G.; Freitag, Christine M.; Satterstrom, F. Kyle; De Rubeis, Silvia; Buxbaum, Joseph; Gelb, Bruce D.; Branko, Aleksic; Kushima, Itaru; Howe, Jennifer; Scherer, Stephen W.; Arado, Alessia; Baldo, Chiara; Patat, Olivier; Benedicte, Demeer; Lopergolo, Diego; Santorelli, Filippo M.; Haack, Tobias B.; Dufke, Andreas; Bertrand, Miriam; Falb, Ruth J.; Riess, Angelika; Krieg, Peter; Spranger, Stephanie; Bedeschi, Maria Francesca; Iascone, Maria; Josephi-Taylor, Sarah; Roscioli, Tony; Buckley, Michael F.; Liebelt, Jan; Dagli, Aditi I.; Aten, Emmelien; Hurst, Anna C. E.; Hicks, Alesha; Suri, Mohnish; Aliu, Ermal; Naik, Sunil; Sidlow, Richard; Coursimault, Juliette; Nicolas, Gael; Kuepper, Hanna; Petit, Florence; Ibrahim, Veyan; Top, Deniz; Di Cara, Francesca; Louie, Raymond J.; Stolerman, Elliot; Brunner, Han G.; Vissers, Lisenka E. L. M.; Kramer, Jamie M.; Kleefstra, Tjitske
2023-06-0111OAAIRots, Dmitrijs; Jakub, Taryn E.; Keung, Crystal; Lisenka, Vissers E. L. M.; Banka, Siddharth; Pfundt, Rolph; de Vries, Bert B. A.; van Jaarsveld, Richard H.; Hopman, Saskia M. J.; van Binsbergen, Ellen; Valenzuela, Irene; Hempel, Maja; Bierhals, Tatjana; Kortuem, Fanny; Lecoquierre, Francois; Goldenberg, Alice; Hertz, Jens Michael; Andersen, Charlotte Brasch; Kibaek, Maria; Prijoles, Eloise J.; Stevenson, Roger E.; Everman, David B.; Patterson, Wesley G.; Meng, Linyan; Gijavanekar, Charul; De Dios, Karl; Lakhani, Shenela; Levy, Tess; Wagner, Matias; Wieczorek, Dagmar; Benke, Paul J.; Garcia, Maria Soledad Lopez; Perrier, Renee; Sousa, Sergio B.; Almeida, Pedro M.; Simoes, Maria Jose; Isidor, Bertrand; Deb, Wallid; Schmanski, Andrew A.; Abdul-Rahman, Omar; Philippe, Christophe; Bruel, Ange-Line; Faivre, Laurence; Vitobello, Antonio; Thauvin, Christel; Smits, Jeroen J.; Garavelli, Livia; Caraffi, Stefano G.; Peluso, Francesca; Davis-Keppen, Laura; Platt, Dylan; Royer, Erin; Leeuwen, Lisette; Sinnema, Margje; Stegmann, Alexander P. A.; Stumpel, Constance T. R. M.; Tiller, George E.; Bosch, Danielle G. M.; Potgieter, Stephanus T.; Joss, Shelagh; Splitt, Miranda; Holden, Simon; Prapa, Matina; Foulds, Nicola; Douzgou, Sofia; Puura, Kaija; Waltes, Regina; Chiocchetti, Andreas G.; Freitag, Christine M.; Satterstrom, F. Kyle; De Rubeis, Silvia; Buxbaum, Joseph; Gelb, Bruce D.; Branko, Aleksic; Kushima, Itaru; Howe, Jennifer; Scherer, Stephen W.; Arado, Alessia; Baldo, Chiara; Patat, Olivier; Benedicte, Demeer; Lopergolo, Diego; Santorelli, Filippo M.; Haack, Tobias B.; Dufke, Andreas; Bertrand, Miriam; Falb, Ruth J.; Riess, Angelika; Krieg, Peter; Spranger, Stephanie; Bedeschi, Maria Francesca; Iascone, Maria; Josephi-Taylor, Sarah; Roscioli, Tony; Buckley, Michael F.; Liebelt, Jan; Dagli, Aditi I.; Aten, Emmelien; Hurst, Anna C. E.; Hicks, Alesha; Suri, Mohnish; Aliu, Ermal; Naik, Sunil; Sidlow, Richard; Coursimault, Juliette; Nicolas, Gael; Kuepper, Hanna; Petit, Florence; Ibrahim, Veyan; Top, Deniz; Di Cara, Francesca; Louie, Raymond J.; Stolerman, Elliot; Brunner, Han G.; Vissers, Lisenka E. L. M.; Kramer, Jamie M.; Kleefstra, TjitskeShareSaveDe novo DHDDS variants cause a neurodevelopmental and neurodegenerative disorder with myoclonusBRAIN2021-08-1116
OAAIGalosi, Serena; Edani, Ban H.; Martinelli, Simone; Hansikova, Hana; Eklund, Erik A.; Caputi, Caterina; Masuelli, Laura; Corsten-Janssen, Nicole; Srour, Myriam; Oegema, Renske; Bosch, Danielle G. M.; Ellis, Colin A.; Amlie-Wolf, Louise; Accogli, Andrea; Atallah, Isis; Averdunk, Luisa; Baranano, Kristin W.; Bei, Roberto; Bagnasco, Irene; Brusco, Alfredo; Demarest, Scott; Alaix, Anne-Sophie; Di Bonaventura, Carlo; Distelmaier, Felix; Elmslie, Frances; Gan-Or, Ziv; Good, Jean-Marc; Gripp, Karen; Kamsteeg, Erik-Jan; Macnamara, Ellen; Marcelis, Carlo; Mercier, Noelle; Peeden, Joseph; Pizzi, Simone; Pannone, Luca; Shinawi, Marwan; Toro, Camilo; Verbeek, Nienke E.; Venkateswaran, Sunita; Wheeler, Patricia G.; Zdrazilova, Lucie; Zhang, Rong; Zorzi, Giovanna; Guerrini, Renzo; Sessa, William C.; Lefeber, Dirk; Tartaglia, Marco; Hamdan, Fadi F.; Grabinska, Kariona A.; Leuzzi, Vincenzo
BRAINIF11.7
2021-08-1116OAAIGalosi, Serena; Edani, Ban H.; Martinelli, Simone; Hansikova, Hana; Eklund, Erik A.; Caputi, Caterina; Masuelli, Laura; Corsten-Janssen, Nicole; Srour, Myriam; Oegema, Renske; Bosch, Danielle G. M.; Ellis, Colin A.; Amlie-Wolf, Louise; Accogli, Andrea; Atallah, Isis; Averdunk, Luisa; Baranano, Kristin W.; Bei, Roberto; Bagnasco, Irene; Brusco, Alfredo; Demarest, Scott; Alaix, Anne-Sophie; Di Bonaventura, Carlo; Distelmaier, Felix; Elmslie, Frances; Gan-Or, Ziv; Good, Jean-Marc; Gripp, Karen; Kamsteeg, Erik-Jan; Macnamara, Ellen; Marcelis, Carlo; Mercier, Noelle; Peeden, Joseph; Pizzi, Simone; Pannone, Luca; Shinawi, Marwan; Toro, Camilo; Verbeek, Nienke E.; Venkateswaran, Sunita; Wheeler, Patricia G.; Zdrazilova, Lucie; Zhang, Rong; Zorzi, Giovanna; Guerrini, Renzo; Sessa, William C.; Lefeber, Dirk; Tartaglia, Marco; Hamdan, Fadi F.; Grabinska, Kariona A.; Leuzzi, VincenzoShareSaveTruncating SRCAP variants outside the Floating-Harbor syndrome locus cause a distinct neurodevelopmental disorder with a specific DNA methylation signature2021-06-0145OAAIRots, Dmitrijs; Chater-Diehl, Eric; Dingemans, Alexander J. M.; Goodman, Sarah J.; Siu, Michelle T.; Cytrynbaum, Cheryl; Choufani, Sanaa; Hoang, Ny; Walker, Susan; Awamleh, Zain; Charkow, Joshua; Meyn, Stephen; Pfundt, Rolph; Rinne, Tuula; Gardeitchik, Thatjana; de Vries, Bert B. A.; Deden, A. Chantal; Leenders, Erika; Kwint, Michael; Stumpel, Constance T. R. M.; Stevens, Servi J. C.; Vermeulen, Jeroen R.; van Harssel, Jeske V. T.; Bosch, Danielle G. M.; van Gassen, Koen L., I; van Binsbergen, Ellen; de Geus, Christa M.; Brackel, Hein; Hempel, Maja; Lessel, Davor; Denecke, Jonas; Slavotinek, Anne; Strober, Jonathan; Crunk, Amy; Folk, Leandra; Wentzensen, Ingrid M.; Yang, Hui; Zou, Fanggeng; Millan, Francisca; Person, Richard; Xie, Yili; Liu, Shuxi; Ousager, Lilian B.; Larsen, Martin; Schultz-Rogers, Laura; Morava, Eva; Klee, Eric W.; Berry, Ian R.; Campbell, Jennifer; Lindstrom, Kristin; Pruniski, Brianna; Neumeyer, Ann M.; Radley, Jessica A.; Phornphutkul, Chanika; Schmidt, Berkley; Wilson, William G.; Ounap, Katrin; Reinson, Karit; Pajusalu, Sander; van Haeringen, Arie; Ruivenkamp, Claudia; Cuperus, Roos; Santos-Simarro, Fernando; Palomares-Bralo, Maria; Pacio-Miguez, Marta; Ritter, Alyssa; Bhoj, Elizabeth; Tonne, Elin; Tveten, Kristian; Cappuccio, Gerarda; Brunetti-Pierri, Nicola; Rowe, Leah; Bunn, Jason; Saenz, Margarita; Platzer, Konrad; Mertens, Mareike; Caluseriu, Oana; Nowaczyk, Malgorzata J. M.; Cohn, Ronald D.; Kannu, Peter; Alkhunaizi, Ebba; Chitayat, David; Scherer, Stephen W.; Brunner, Han G.; Vissers, Lisenka E. L. M.; Kleefstra, Tjitske; Koolen, David A.; Weksberg, Rosanna
2021-06-0145OAAIRots, Dmitrijs; Chater-Diehl, Eric; Dingemans, Alexander J. M.; Goodman, Sarah J.; Siu, Michelle T.; Cytrynbaum, Cheryl; Choufani, Sanaa; Hoang, Ny; Walker, Susan; Awamleh, Zain; Charkow, Joshua; Meyn, Stephen; Pfundt, Rolph; Rinne, Tuula; Gardeitchik, Thatjana; de Vries, Bert B. A.; Deden, A. Chantal; Leenders, Erika; Kwint, Michael; Stumpel, Constance T. R. M.; Stevens, Servi J. C.; Vermeulen, Jeroen R.; van Harssel, Jeske V. T.; Bosch, Danielle G. M.; van Gassen, Koen L., I; van Binsbergen, Ellen; de Geus, Christa M.; Brackel, Hein; Hempel, Maja; Lessel, Davor; Denecke, Jonas; Slavotinek, Anne; Strober, Jonathan; Crunk, Amy; Folk, Leandra; Wentzensen, Ingrid M.; Yang, Hui; Zou, Fanggeng; Millan, Francisca; Person, Richard; Xie, Yili; Liu, Shuxi; Ousager, Lilian B.; Larsen, Martin; Schultz-Rogers, Laura; Morava, Eva; Klee, Eric W.; Berry, Ian R.; Campbell, Jennifer; Lindstrom, Kristin; Pruniski, Brianna; Neumeyer, Ann M.; Radley, Jessica A.; Phornphutkul, Chanika; Schmidt, Berkley; Wilson, William G.; Ounap, Katrin; Reinson, Karit; Pajusalu, Sander; van Haeringen, Arie; Ruivenkamp, Claudia; Cuperus, Roos; Santos-Simarro, Fernando; Palomares-Bralo, Maria; Pacio-Miguez, Marta; Ritter, Alyssa; Bhoj, Elizabeth; Tonne, Elin; Tveten, Kristian; Cappuccio, Gerarda; Brunetti-Pierri, Nicola; Rowe, Leah; Bunn, Jason; Saenz, Margarita; Platzer, Konrad; Mertens, Mareike; Caluseriu, Oana; Nowaczyk, Malgorzata J. M.; Cohn, Ronald D.; Kannu, Peter; Alkhunaizi, Ebba; Chitayat, David; Scherer, Stephen W.; Brunner, Han G.; Vissers, Lisenka E. L. M.; Kleefstra, Tjitske; Koolen, David A.; Weksberg, RosannaShareSaveA genotype-first approach identifies an intellectual disability-overweight syndrome caused by PHIP haploinsufficiency2017-12-0538OAAIJansen, Sandra; Hoischen, Alexander; Coe, Bradley P.; Carvill, Gemma L.; Van Esch, Hilde; Bosch, Danielle G. M.; Andersen, Ulla A.; Baker, Carl; Bauters, Marijke; Bernier, Raphael A.; van Bon, Bregje W.; Claahsen-van der Grinten, Hedi L.; Gecz, Jozef; Gilissen, Christian; Grillo, Lucia; Hackett, Anna; Kleefstra, Tjitske; Koolen, David; Kvarnung, Malin; Larsen, Martin J.; Marcelis, Carlo; McKenzie, Fiona; Monin, Marie-Lorraine; Nava, Caroline; Schuurs-Hoeijmakers, Janneke H.; Pfundt, Rolph; Steehouwer, Marloes; Stevens, Servi J. C.; Stumpel, Connie T.; Vansenne, Fleur; Vinci, Mirella; van de Vorst, Maartje; de Vries, Petra; Witherspoon, Kali; Veltman, Joris A.; Brunner, Han G.; Mefford, Heather C.; Romano, Corrado; Vissers, Lisenka E. L. M.; Eichler, Evan E.; de Vries, Bert B. A.
2017-12-0538OAAIJansen, Sandra; Hoischen, Alexander; Coe, Bradley P.; Carvill, Gemma L.; Van Esch, Hilde; Bosch, Danielle G. M.; Andersen, Ulla A.; Baker, Carl; Bauters, Marijke; Bernier, Raphael A.; van Bon, Bregje W.; Claahsen-van der Grinten, Hedi L.; Gecz, Jozef; Gilissen, Christian; Grillo, Lucia; Hackett, Anna; Kleefstra, Tjitske; Koolen, David; Kvarnung, Malin; Larsen, Martin J.; Marcelis, Carlo; McKenzie, Fiona; Monin, Marie-Lorraine; Nava, Caroline; Schuurs-Hoeijmakers, Janneke H.; Pfundt, Rolph; Steehouwer, Marloes; Stevens, Servi J. C.; Stumpel, Connie T.; Vansenne, Fleur; Vinci, Mirella; van de Vorst, Maartje; de Vries, Petra; Witherspoon, Kali; Veltman, Joris A.; Brunner, Han G.; Mefford, Heather C.; Romano, Corrado; Vissers, Lisenka E. L. M.; Eichler, Evan E.; de Vries, Bert B. A.ShareSaveThe expanding clinical phenotype of Bosch-Boonstra-Schaaf optic atrophy syndrome: 20 new cases and possible genotype-phenotype correlations (vol 18, pg 1143, 2016)GENETICS IN MEDICINE2017-08-012OAAIChen, Chun-An; Bosch, Danielle G. M.; Cho, Megan T.; Rosenfeld, Jill A.; Shinawi, Marwan; Lewis, Richard Alan; Mann, John; Jayakar, Parul; Payne, Katelyn; Walsh, Laurence; Moss, Timothy; Schreiber, Allison; Schoonveld, Cheri; Monaghan, Kristin G.; Elmslie, Frances; Douglas, Ganka; Boonstra, F. Nienke; Millan, Francisca; Cremers, Frans P. M.; McKnight, Dianalee; Richard, Gabriele; Juusola, Jane; Kendall, Fran; Ramsey, Keri; Anyane-Yeboa, Kwame; Malkin, Elfrida; Chung, Wendy K.; Niyazov, Dmitriy; Pascual, Juan M.; Walkiewicz, Magdalena; Veluchamy, Vivekanand; Li, Chumei; Hisama, Fuki M.; de Vries, Bert B. A.; Schaaf, Christian
GENETICS IN MEDICINEIF6.2
2017-08-012OAAIChen, Chun-An; Bosch, Danielle G. M.; Cho, Megan T.; Rosenfeld, Jill A.; Shinawi, Marwan; Lewis, Richard Alan; Mann, John; Jayakar, Parul; Payne, Katelyn; Walsh, Laurence; Moss, Timothy; Schreiber, Allison; Schoonveld, Cheri; Monaghan, Kristin G.; Elmslie, Frances; Douglas, Ganka; Boonstra, F. Nienke; Millan, Francisca; Cremers, Frans P. M.; McKnight, Dianalee; Richard, Gabriele; Juusola, Jane; Kendall, Fran; Ramsey, Keri; Anyane-Yeboa, Kwame; Malkin, Elfrida; Chung, Wendy K.; Niyazov, Dmitriy; Pascual, Juan M.; Walkiewicz, Magdalena; Veluchamy, Vivekanand; Li, Chumei; Hisama, Fuki M.; de Vries, Bert B. A.; Schaaf, ChristianShareSaveThe expanding clinical phenotype of Bosch-Boonstra-Schaaf optic atrophy syndrome: 20 new cases and possible genotype-phenotype correlationsGENETICS IN MEDICINE2016-11-0159OAAIChen, Chun-An; Bosch, Danielle G. M.; Cho, Megan T.; Rosenfeld, Jill A.; Shinawi, Marwan; Lewis, Richard Alan; Mann, John; Jayakar, Parul; Payne, Katelyn; Walsh, Laurence; Moss, Timothy; Schreiber, Allison; Schoonveld, Cheri; Monaghan, Kristin G.; Elmslie, Frances; Douglas, Ganka; Boonstra, F. Nienke; Milian, Francisca; Cremers, Frans P. M.; McKnight, Dianalee; Richard, Gabriele; Juusola, Jane; Kendall, Fran; Ramsey, Keri; Anyane-Yeboa, Kwame; Malkin, Elfrida; Chung, Wendy K.; Niyazov, Dmitriy; Pascual, Juan M.; Walkiewicz, Magdalena; Veluchamy, Vivekanand; Li, Chumei; Hisama, Fuki M.; de Vries, Bert B. A.; Schaaf, Christian
GENETICS IN MEDICINEIF6.2
2016-11-0159OAAIChen, Chun-An; Bosch, Danielle G. M.; Cho, Megan T.; Rosenfeld, Jill A.; Shinawi, Marwan; Lewis, Richard Alan; Mann, John; Jayakar, Parul; Payne, Katelyn; Walsh, Laurence; Moss, Timothy; Schreiber, Allison; Schoonveld, Cheri; Monaghan, Kristin G.; Elmslie, Frances; Douglas, Ganka; Boonstra, F. Nienke; Milian, Francisca; Cremers, Frans P. M.; McKnight, Dianalee; Richard, Gabriele; Juusola, Jane; Kendall, Fran; Ramsey, Keri; Anyane-Yeboa, Kwame; Malkin, Elfrida; Chung, Wendy K.; Niyazov, Dmitriy; Pascual, Juan M.; Walkiewicz, Magdalena; Veluchamy, Vivekanand; Li, Chumei; Hisama, Fuki M.; de Vries, Bert B. A.; Schaaf, ChristianShareSaveDe Novo Mutations in SON Disrupt RNA Splicing of Genes Essential for Brain Development and Metabolism, Causing an Intellectual-Disability Syndrome2016-09-0184OAAIKim, Jung-Hyun; Shinde, Deepali N.; Reijnders, Margot R. F.; Hauser, Natalie S.; Belmonte, Rebecca L.; Wilson, Gregory R.; Bosch, Danielle G. M.; Bubulya, Paula A.; Shashi, Vandana; Petrovski, Slave; Stone, Joshua K.; Park, Eun Young; Veltman, Joris A.; Sinnema, Margje; Stumpel, Connie T. R. M.; Draaisma, Jos M.; Nicolai, Joost; Yntema, Helger G.; Lindstrom, Kristin; de Vries, Bert B. A.; Jewett, Tamison; Santoro, Stephanie L.; Vogt, Julie; Bachman, Kristine K.; Seeley, Andrea H.; Krokosky, Alyson; Turner, Clesson; Rohena, Luis; Hempel, Maja; Kortuem, Fanny; Lessel, Davor; Neu, Axel; Strom, Tim M.; Wieczorek, Dagmar; Bramswig, Nuria; Laccone, Franco A.; Behunova, Jana; Rehder, Helga; Gordon, Christopher T.; Rio, Marlene; Romana, Serge; Tang, Sha; El-Khechen, Dima; Cho, Megan T.; McWalter, Kirsty; Douglas, Ganka; Baskin, Berivan; Begtrup, Amber; Funari, Tara; Schoch, Kelly; Stegmann, Alexander P. A.; Stevens, Servi J. C.; Zhang, Dong-Er; Traver, David; Yao, Xu; MacArthur, Daniel G.; Brunner, Han G.; Mancini, Grazia M.; Myers, Richard M.; Owen, Laurie B.; Lim, Ssang-Taek; Stachura, David L.; Vissers, Lisenka E. L. M.; Ahn, Eun-Young Erin
2016-09-0184OAAIKim, Jung-Hyun; Shinde, Deepali N.; Reijnders, Margot R. F.; Hauser, Natalie S.; Belmonte, Rebecca L.; Wilson, Gregory R.; Bosch, Danielle G. M.; Bubulya, Paula A.; Shashi, Vandana; Petrovski, Slave; Stone, Joshua K.; Park, Eun Young; Veltman, Joris A.; Sinnema, Margje; Stumpel, Connie T. R. M.; Draaisma, Jos M.; Nicolai, Joost; Yntema, Helger G.; Lindstrom, Kristin; de Vries, Bert B. A.; Jewett, Tamison; Santoro, Stephanie L.; Vogt, Julie; Bachman, Kristine K.; Seeley, Andrea H.; Krokosky, Alyson; Turner, Clesson; Rohena, Luis; Hempel, Maja; Kortuem, Fanny; Lessel, Davor; Neu, Axel; Strom, Tim M.; Wieczorek, Dagmar; Bramswig, Nuria; Laccone, Franco A.; Behunova, Jana; Rehder, Helga; Gordon, Christopher T.; Rio, Marlene; Romana, Serge; Tang, Sha; El-Khechen, Dima; Cho, Megan T.; McWalter, Kirsty; Douglas, Ganka; Baskin, Berivan; Begtrup, Amber; Funari, Tara; Schoch, Kelly; Stegmann, Alexander P. A.; Stevens, Servi J. C.; Zhang, Dong-Er; Traver, David; Yao, Xu; MacArthur, Daniel G.; Brunner, Han G.; Mancini, Grazia M.; Myers, Richard M.; Owen, Laurie B.; Lim, Ssang-Taek; Stachura, David L.; Vissers, Lisenka E. L. M.; Ahn, Eun-Young ErinShareSaveDe Novo Mutations of RERE Cause a Genetic Syndrome with Features that Overlap Those Associated with Proximal 1p36 Deletions2016-05-0164OAAIFregeau, Brieana; Kim, Bum Jun; Hernandez-Garcia, Andres; Jordan, Valerie K.; Cho, Megan T.; Schnur, Rhonda E.; Monaghan, Kristin G.; Juusola, Jane; Rosenfeld, Jill A.; Bhoj, Elizabeth; Zackai, Elaine H.; Sacharow, Stephanie; Baranano, Kristin; Bosch, Danielle G. M.; de Vries, Bert B. A.; Lindstrom, Kristin; Schroeder, Audrey; James, Philip; Kulch, Peggy; Lalani, Seema R.; van Haelst, Mieke M.; van Gassen, Koen L. I.; van Binsbergen, Ellen; Barkovich, A. James; Scott, Daryl A.; Sherr, Elliott H.
2016-05-0164OAAIFregeau, Brieana; Kim, Bum Jun; Hernandez-Garcia, Andres; Jordan, Valerie K.; Cho, Megan T.; Schnur, Rhonda E.; Monaghan, Kristin G.; Juusola, Jane; Rosenfeld, Jill A.; Bhoj, Elizabeth; Zackai, Elaine H.; Sacharow, Stephanie; Baranano, Kristin; Bosch, Danielle G. M.; de Vries, Bert B. A.; Lindstrom, Kristin; Schroeder, Audrey; James, Philip; Kulch, Peggy; Lalani, Seema R.; van Haelst, Mieke M.; van Gassen, Koen L. I.; van Binsbergen, Ellen; Barkovich, A. James; Scott, Daryl A.; Sherr, Elliott H.ShareSaveDe novo loss-of-function mutations in WAC cause a recognizable intellectual disability syndrome and learning deficits in Drosophila2016-01-1333OAAILugtenberg, Dorien; Reijnders, Margot R. F.; Fenckova, Michaela; Bijlsma, Emilia K.; Bernier, Raphael; van Bon, Bregje W. M.; Smeets, Eric; Vulto-van Silfhout, Anneke T.; Bosch, Danielle; Eichler, Evan E.; Mefford, Heather C.; Carvill, Gemma L.; Bongers, Ernie M. H. F.; Schuurs-Hoeijmakers, Janneke H. M.; Ruivenkamp, Claudia A.; Santen, Gijs W. E.; van den Maagdenberg, Arn M. J. M.; Peeters-Scholte, Cacha M. P. C. D.; Kuenen, Sabine; Verstreken, Patrik; Pfundt, Rolph; Yntema, Helger G.; de Vries, Petra F.; Veltman, Joris A.; Hoischen, Alexander; Gilissen, Christian; de Vries, Bert B. A.; Schenck, Annette; Kleefstra, Tjitske; Vissers, Lisenka E. L. M.
2016-01-1333OAAILugtenberg, Dorien; Reijnders, Margot R. F.; Fenckova, Michaela; Bijlsma, Emilia K.; Bernier, Raphael; van Bon, Bregje W. M.; Smeets, Eric; Vulto-van Silfhout, Anneke T.; Bosch, Danielle; Eichler, Evan E.; Mefford, Heather C.; Carvill, Gemma L.; Bongers, Ernie M. H. F.; Schuurs-Hoeijmakers, Janneke H. M.; Ruivenkamp, Claudia A.; Santen, Gijs W. E.; van den Maagdenberg, Arn M. J. M.; Peeters-Scholte, Cacha M. P. C. D.; Kuenen, Sabine; Verstreken, Patrik; Pfundt, Rolph; Yntema, Helger G.; de Vries, Petra F.; Veltman, Joris A.; Hoischen, Alexander; Gilissen, Christian; de Vries, Bert B. A.; Schenck, Annette; Kleefstra, Tjitske; Vissers, Lisenka E. L. M.ShareSaveTRIO loss of function is associated with mild intellectual disability and affects dendritic branching and synapse function2015-12-3189OAAIBa, Wei; Yan, Yan; Reijnders, Margot R. F.; Schuurs-Hoeijmakers, Janneke H. M.; Feenstra, Ilse; Bongers, Ernie M. H. F.; Bosch, Danielle G. M.; De Leeuw, Nicole; Pfundt, Rolph; Gilissen, Christian; De Vries, Petra F.; Veltman, Joris A.; Hoischen, Alexander; Mefford, Heather C.; Eichler, Evan E.; Vissers, Lisenka E. L. M.; Kasri, Nael Nadif; De Vries, Bert B. A.
2015-12-3189OAAIBa, Wei; Yan, Yan; Reijnders, Margot R. F.; Schuurs-Hoeijmakers, Janneke H. M.; Feenstra, Ilse; Bongers, Ernie M. H. F.; Bosch, Danielle G. M.; De Leeuw, Nicole; Pfundt, Rolph; Gilissen, Christian; De Vries, Petra F.; Veltman, Joris A.; Hoischen, Alexander; Mefford, Heather C.; Eichler, Evan E.; Vissers, Lisenka E. L. M.; Kasri, Nael Nadif; De Vries, Bert B. A.ShareSaveNovel genetic causes for cerebral visual impairment2015-09-09130OAAIBosch, Daniele G. M.; Boonstra, F. Nienke; de Leeuw, Nicole; Pfundt, Rolph; Nillesen, Willy M.; de Ligt, Joep; Gilissen, Christian; Jhangiani, Shalini; Lupski, James R.; Cremers, Frans P. M.; de Vries, Bert B. A.
2015-09-09130OAAIBosch, Daniele G. M.; Boonstra, F. Nienke; de Leeuw, Nicole; Pfundt, Rolph; Nillesen, Willy M.; de Ligt, Joep; Gilissen, Christian; Jhangiani, Shalini; Lupski, James R.; Cremers, Frans P. M.; de Vries, Bert B. A.ShareSaveCerebral visual impairment and intellectual disability caused by PGAP1 variants2015-03-2519OAAIBosch, Danille G. M.; Boonstra, F. Nienke; Kinoshita, Taroh; Jhangiani, Shalini; de Ligt, Joep; Cremers, Frans P. M.; Lupski, James R.; Murakami, Yoshiko; de Vries, Bert B. A.
2015-03-2519OAAIBosch, Danille G. M.; Boonstra, F. Nienke; Kinoshita, Taroh; Jhangiani, Shalini; de Ligt, Joep; Cremers, Frans P. M.; Lupski, James R.; Murakami, Yoshiko; de Vries, Bert B. A.ShareSaveNR2F1 Mutations Cause Optic Atrophy with Intellectual Disability2014-02-01113OAAIBosch, Danielle G. M.; Boonstra, F. Nienke; Gonzaga-Jauregui, Claudia; Xu, Mafei; de Ligt, Joep; Jhangiani, Shalini; Wiszniewski, Wojciech; Muzny, Donna M.; Yntema, Helger G.; Pfundt, Rolph; Vissers, Lisenka E. L. M.; Spruijt, Liesbeth; Blokland, Ellen A. W.; Chen, Chun-An; Lewis, Richard A.; Tsai, Sophia Y.; Gibbs, Richard A.; Tsai, Ming-Jer; Lupski, James R.; Zoghbi, Huda Y.; Cremers, Frans P. M.; de Vries, Bert B. A.; Schaaf, Christian P.
2014-02-01113OAAIBosch, Danielle G. M.; Boonstra, F. Nienke; Gonzaga-Jauregui, Claudia; Xu, Mafei; de Ligt, Joep; Jhangiani, Shalini; Wiszniewski, Wojciech; Muzny, Donna M.; Yntema, Helger G.; Pfundt, Rolph; Vissers, Lisenka E. L. M.; Spruijt, Liesbeth; Blokland, Ellen A. W.; Chen, Chun-An; Lewis, Richard A.; Tsai, Sophia Y.; Gibbs, Richard A.; Tsai, Ming-Jer; Lupski, James R.; Zoghbi, Huda Y.; Cremers, Frans P. M.; de Vries, Bert B. A.; Schaaf, Christian P.ShareSaveResearch Directions
No research directions