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Carlo Marcelis
Radboud University Nijmegen
52H-index
198Paper Count
8.3KCitation Count
Published Papers 75
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DDX3X-related neurodevelopmental disorder in males - presenting a new cohort of 19 males and a literature review.png)
2025-03-01
0
OAAI
Kennis, Milou G. P.; Rots, Dmitrijs; Bouman, Arjan; Ockeloen, Charlotte W.; Boelen, Caroline; Marcelis, Carlo L. M.; de Vries, Bert B. A.; Elting, Mariet W.; Waisfisz, Quinten; Suri, Mohnish; Font-Montgomery, Esperanza; Peck, Dawn S.; Donnelly, Deirdre E.; Rogers, R. Curtis; Richardson, Ruth; Caumes, Roseline; Chaumette, Boris; Louveau, Cecile; Sallevelt, Suzanne C. E. H.; Maas, Saskia M.; Smits, Jeroen J.; van Haelst, Mieke M.; Levy, Rebecca J.; Stewart, Helen; Loeys, Bart L.; Pfundt, Rolph; Kleefstra, Tjitske; Blok, Lot Snijders
2025-03-010OAAIKennis, Milou G. P.; Rots, Dmitrijs; Bouman, Arjan; Ockeloen, Charlotte W.; Boelen, Caroline; Marcelis, Carlo L. M.; de Vries, Bert B. A.; Elting, Mariet W.; Waisfisz, Quinten; Suri, Mohnish; Font-Montgomery, Esperanza; Peck, Dawn S.; Donnelly, Deirdre E.; Rogers, R. Curtis; Richardson, Ruth; Caumes, Roseline; Chaumette, Boris; Louveau, Cecile; Sallevelt, Suzanne C. E. H.; Maas, Saskia M.; Smits, Jeroen J.; van Haelst, Mieke M.; Levy, Rebecca J.; Stewart, Helen; Loeys, Bart L.; Pfundt, Rolph; Kleefstra, Tjitske; Blok, Lot Snijders.png){kind=icon}
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SaveCUL3-related neurodevelopmental disorder: Clinical phenotype of 20 new individuals and identification of a potential phenotype-associated episignature2025-01-010
OAAIvan der Laan, Liselot; Silva, Ananilia; Kleinendorst, Lotte; Rooney, Kathleen; Haghshenas, Sadegheh; Lauffer, Peter; Alanay, Yasemin; Bhai, Pratibha; Brusco, Alfredo; de Munnik, Sonja; de Vries, Bert B. A.; Vega, Angelica Delgado; Engelen, Marc; Herkert, Johanna C.; Hochstenbach, Ron; Hopman, Saskia; Kant, Sarina G.; Kira, Ryutaro; Kato, Mitsuhiro; Keren, Boris; Kroes, Hester Y.; Levy, Michael A.; Lock-Hock, Ngu; Maas, Saskia M.; Mancini, Grazia M. S.; Marcelis, Carlo; Matsumoto, Naomichi; Mizuguchi, Takeshi; Mussa, Alessandro; Mignot, Cyril; Narhi, Anu; Nordgren, Ann; Pfundt, Rolph; Polstra, Abeltje M.; Trajkova, Slavica; van Bever, Yolande; van den Boogaard, Marie Jose; van der Smagt, Jasper J.; Barakat, Tahsin Stefan; Alders, Marielle; Mannens, Marcel M. A. M.; Sadikovic, Bekim; van Haelst, Mieke M.; Henneman, Peter
2025-01-010OAAIvan der Laan, Liselot; Silva, Ananilia; Kleinendorst, Lotte; Rooney, Kathleen; Haghshenas, Sadegheh; Lauffer, Peter; Alanay, Yasemin; Bhai, Pratibha; Brusco, Alfredo; de Munnik, Sonja; de Vries, Bert B. A.; Vega, Angelica Delgado; Engelen, Marc; Herkert, Johanna C.; Hochstenbach, Ron; Hopman, Saskia; Kant, Sarina G.; Kira, Ryutaro; Kato, Mitsuhiro; Keren, Boris; Kroes, Hester Y.; Levy, Michael A.; Lock-Hock, Ngu; Maas, Saskia M.; Mancini, Grazia M. S.; Marcelis, Carlo; Matsumoto, Naomichi; Mizuguchi, Takeshi; Mussa, Alessandro; Mignot, Cyril; Narhi, Anu; Nordgren, Ann; Pfundt, Rolph; Polstra, Abeltje M.; Trajkova, Slavica; van Bever, Yolande; van den Boogaard, Marie Jose; van der Smagt, Jasper J.; Barakat, Tahsin Stefan; Alders, Marielle; Mannens, Marcel M. A. M.; Sadikovic, Bekim; van Haelst, Mieke M.; Henneman, PeterShareSaveDe novo variants in ATXN7L3 lead to developmental delay, hypotonia and distinctive facial features.png)
BRAIN2024-05-161OAAIHarel, Tamar; Spicher, Camille; Scheer, Elisabeth; Buchan, Jillian G.; Cech, Jennifer; Folland, Chiara; Frey, Tanja; Holtz, Alexander M.; Innes, A. Micheil; Keren, Boris; Macken, William L.; Marcelis, Carlo; Otten, Catherine E.; Paolucci, Sarah A.; Petit, Florence; Pfundt, Rolph; Pitceathly, Robert D. S.; Rauch, Anita; Ravenscroft, Gianina; Sanchev, Rani; Steindl, Katharina; Tammer, Femke; Tyndall, Amanda; Devys, Didier; Vincent, Stephane D.; Elpeleg, Orly; Tora, Laszlo
BRAINIF11.7
2024-05-161OAAIHarel, Tamar; Spicher, Camille; Scheer, Elisabeth; Buchan, Jillian G.; Cech, Jennifer; Folland, Chiara; Frey, Tanja; Holtz, Alexander M.; Innes, A. Micheil; Keren, Boris; Macken, William L.; Marcelis, Carlo; Otten, Catherine E.; Paolucci, Sarah A.; Petit, Florence; Pfundt, Rolph; Pitceathly, Robert D. S.; Rauch, Anita; Ravenscroft, Gianina; Sanchev, Rani; Steindl, Katharina; Tammer, Femke; Tyndall, Amanda; Devys, Didier; Vincent, Stephane D.; Elpeleg, Orly; Tora, LaszloShareSavePrevalence of comorbidities in individuals with neurodevelopmental disorders from the aggregated phenomics data of 51,227 pediatric individualsNATURE MEDICINE2024-05-141Dingemans, Alexander J. M.; Jansen, Sandra; van Reeuwijk, Jeroen; de Leeuw, Nicole; Pfundt, Rolph; Schuurs-Hoeijmakers, Janneke; van Bon, Bregje W.; Marcelis, Carlo; Ockeloen, Charlotte W.; Willemsen, Marjolein; van der Sluijs, Pleuntje J.; Santen, Gijs W. E.; Kooy, R. Frank; Vulto-van Silfhout, Anneke T.; Kleefstra, Tjitske; Koolen, David A.; Vissers, Lisenka E. L. M.; de Vries, Bert B. A.
NATURE MEDICINEIF50
2024-05-141PREAI
Dingemans, Alexander J. M.; Jansen, Sandra; van Reeuwijk, Jeroen; de Leeuw, Nicole; Pfundt, Rolph; Schuurs-Hoeijmakers, Janneke; van Bon, Bregje W.; Marcelis, Carlo; Ockeloen, Charlotte W.; Willemsen, Marjolein; van der Sluijs, Pleuntje J.; Santen, Gijs W. E.; Kooy, R. Frank; Vulto-van Silfhout, Anneke T.; Kleefstra, Tjitske; Koolen, David A.; Vissers, Lisenka E. L. M.; de Vries, Bert B. A.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, HakonShareSaveElucidating the clinical and molecular spectrum of SMARCC2-associated NDD in a cohort of 65 affected individualsGENETICS IN MEDICINE2023-11-014OAAIBosch, Elisabeth; Popp, Bernt; Guese, Esther; Skinner, Cindy; van der Sluijs, Pleuntje J.; Maystadt, Isabelle; Pinto, Anna Maria; Renieri, Alessandra; Bruno, Lucia Pia; Granata, Stefania; Marcelis, Carlo; Baysal, Oezlem; Hartwich, Dewi; Holthoefer, Laura; Isidor, Bertrand; Cogne, Benjamin; Wieczorek, Dagmar; Capra, Valeria; Scala, Marcello; De Marco, Patrizia; Ognibene, Marzia; Abou Jamra, Rami; Platzer, Konrad; Carter, Lauren B.; Kuismin, Outi; van Haeringen, Arie; Maroofian, Reza; Valenzuela, Irene; Cusco, Ivon; Martinez-Agosto, Julian A.; Rabani, Ahna M.; Mefford, Heather C.; Pereira, Elaine M.; Close, Charlotte; Anyane-Yeboa, Kwame; Wagner, Mallory; Hannibal, Mark C.; Zacher, Pia; Thiffault, Isabelle; Beunders, Gea; Umair, Muhammad; Bhola, Priya T.; Mcginnis, Erin; Millichap, John; van de Kamp, Jiddeke M.; Prijoles, Eloise J.; Dobson, Amy; Shillington, Amelle; Graham, Brett H.; Garcia, Evan-Jacob; Galindo, Maureen Kelly; Ropers, Fabienne G.; Nibbeling, Esther A. R.; Hubbard, Gail; Karimov, Catherine; Goj, Guido; Bend, Renee; Rath, Julie; Morrow, Michelle M.; Millan, Francisca; Salpietro, Vincenzo; Torella, Annalaura; Nigro, Vincenzo; Kurki, Mitja; Stevenson, Roger E.; Santen, Gijs W. E.; Zweier, Markus; Campeau, Philippe M.; Severino, Mariasavina; Reis, Andre; Accogli, Andrea; Vasileiou, Georgia
GENETICS IN MEDICINEIF6.2
2023-11-014OAAIBosch, Elisabeth; Popp, Bernt; Guese, Esther; Skinner, Cindy; van der Sluijs, Pleuntje J.; Maystadt, Isabelle; Pinto, Anna Maria; Renieri, Alessandra; Bruno, Lucia Pia; Granata, Stefania; Marcelis, Carlo; Baysal, Oezlem; Hartwich, Dewi; Holthoefer, Laura; Isidor, Bertrand; Cogne, Benjamin; Wieczorek, Dagmar; Capra, Valeria; Scala, Marcello; De Marco, Patrizia; Ognibene, Marzia; Abou Jamra, Rami; Platzer, Konrad; Carter, Lauren B.; Kuismin, Outi; van Haeringen, Arie; Maroofian, Reza; Valenzuela, Irene; Cusco, Ivon; Martinez-Agosto, Julian A.; Rabani, Ahna M.; Mefford, Heather C.; Pereira, Elaine M.; Close, Charlotte; Anyane-Yeboa, Kwame; Wagner, Mallory; Hannibal, Mark C.; Zacher, Pia; Thiffault, Isabelle; Beunders, Gea; Umair, Muhammad; Bhola, Priya T.; Mcginnis, Erin; Millichap, John; van de Kamp, Jiddeke M.; Prijoles, Eloise J.; Dobson, Amy; Shillington, Amelle; Graham, Brett H.; Garcia, Evan-Jacob; Galindo, Maureen Kelly; Ropers, Fabienne G.; Nibbeling, Esther A. R.; Hubbard, Gail; Karimov, Catherine; Goj, Guido; Bend, Renee; Rath, Julie; Morrow, Michelle M.; Millan, Francisca; Salpietro, Vincenzo; Torella, Annalaura; Nigro, Vincenzo; Kurki, Mitja; Stevenson, Roger E.; Santen, Gijs W. E.; Zweier, Markus; Campeau, Philippe M.; Severino, Mariasavina; Reis, Andre; Accogli, Andrea; Vasileiou, GeorgiaShareSaveA complex structural variant near SOX3 causes X-linked split-hand/foot malformation2023-07-011OAAIde Boer, Elke; Marcelis, Carlo; Neveling, Kornelia; van Beusekom, Ellen; Hoischen, Alexander; Klein, Willemijn M.; de Leeuw, Nicole; Mantere, Tuomo; Melo, Uira S.; van Reeuwijk, Jeroen; Smeets, Dominique; Spielmann, Malte; Kleefstra, Tjitske; van Bokhoven, Hans; Vissers, Lisenka E. L. M.
2023-07-011OAAIde Boer, Elke; Marcelis, Carlo; Neveling, Kornelia; van Beusekom, Ellen; Hoischen, Alexander; Klein, Willemijn M.; de Leeuw, Nicole; Mantere, Tuomo; Melo, Uira S.; van Reeuwijk, Jeroen; Smeets, Dominique; Spielmann, Malte; Kleefstra, Tjitske; van Bokhoven, Hans; Vissers, Lisenka E. L. M.ShareSaveANK2 loss-of-function variants are associated with epilepsy, and lead to impaired axon initial segment plasticity and hyperactive network activity in hiPSC-derived neuronal networks2023-05-178OAAITeunissen, Maria W. A.; Lewerissa, Elly; van Hugte, Eline J. H.; Wang, Shan; Ockeloen, Charlotte W.; Koolen, David A.; Pfundt, Rolph; Marcelis, Carlo L. M.; Brilstra, Eva; Howe, Jennifer L.; Scherer, Stephen W.; Le Guillou, Xavier; Bilan, Frederic; Primiano, Michelle; Roohi, Jasmin; Piton, Amelie; de Saint Martin, Anne; Baer, Sarah; Seiffert, Simone; Platzer, Konrad; Jamra, Rami Abou; Syrbe, Steffen; Doering, Jan H.; Lakhani, Shenela; Nangia, Srishti; Gilissen, Christian; Vermeulen, R. Jeroen; Rouhl, Rob P. W.; Brunner, Han G.; Willemsen, Marjolein H.; Kasri, Nael Nadif
2023-05-178OAAITeunissen, Maria W. A.; Lewerissa, Elly; van Hugte, Eline J. H.; Wang, Shan; Ockeloen, Charlotte W.; Koolen, David A.; Pfundt, Rolph; Marcelis, Carlo L. M.; Brilstra, Eva; Howe, Jennifer L.; Scherer, Stephen W.; Le Guillou, Xavier; Bilan, Frederic; Primiano, Michelle; Roohi, Jasmin; Piton, Amelie; de Saint Martin, Anne; Baer, Sarah; Seiffert, Simone; Platzer, Konrad; Jamra, Rami Abou; Syrbe, Steffen; Doering, Jan H.; Lakhani, Shenela; Nangia, Srishti; Gilissen, Christian; Vermeulen, R. Jeroen; Rouhl, Rob P. W.; Brunner, Han G.; Willemsen, Marjolein H.; Kasri, Nael NadifShareSaveVariant Location Is a Novel Risk Factor for Individuals With Arrhythmogenic Cardiomyopathy Due to a Desmoplakin (DSP) Truncating Variant2023-02-0115OAAIHoorntje, Edgar T.; Burns, Charlotte; Marsili, Luisa; Corden, Ben; Parikh, Victoria N.; te Meerman, Gerard J.; Gray, Belinda; Adiyaman, Ahmet; Bagnall, Richard D.; Barge-Schaapveld, Daniela Q. C. M.; van den Berg, Maarten P.; Bootsma, Marianne; Bosman, Laurens P.; Correnti, Gemma; Duflou, Johan; Eppinga, Ruben N.; Fatkin, Diane; Fietz, Michael; Haan, Eric; Jongbloed, Jan D. H.; Hauer, Arnaud D.; Lam, Lien; van Lint, Freyja H. M.; Lota, Amrit; Marcelis, Carlo; McCarthy, Hugh J.; van Mil, Anneke M.; Oldenburg, Rogier A.; Pachter, Nicholas; Planken, R. Nils; Reuter, Chloe; Semsarian, Christopher; van der Smagt, Jasper J.; Thompson, Tina; Vohra, Jitendra; Volders, Paul G. A.; van Waning, Jaap I.; Whiffin, Nicola; van den Wijngaard, Arthur; Amin, Ahmad S.; Wilde, Arthur A. M.; van Woerden, Gijs; Yeates, Laura; Zentner, Dominica; Ashley, Euan A.; Wheeler, Matthew T.; Ware, James S.; van Tintelen, J. Peter; Ingles, Jodie
2023-02-0115OAAIHoorntje, Edgar T.; Burns, Charlotte; Marsili, Luisa; Corden, Ben; Parikh, Victoria N.; te Meerman, Gerard J.; Gray, Belinda; Adiyaman, Ahmet; Bagnall, Richard D.; Barge-Schaapveld, Daniela Q. C. M.; van den Berg, Maarten P.; Bootsma, Marianne; Bosman, Laurens P.; Correnti, Gemma; Duflou, Johan; Eppinga, Ruben N.; Fatkin, Diane; Fietz, Michael; Haan, Eric; Jongbloed, Jan D. H.; Hauer, Arnaud D.; Lam, Lien; van Lint, Freyja H. M.; Lota, Amrit; Marcelis, Carlo; McCarthy, Hugh J.; van Mil, Anneke M.; Oldenburg, Rogier A.; Pachter, Nicholas; Planken, R. Nils; Reuter, Chloe; Semsarian, Christopher; van der Smagt, Jasper J.; Thompson, Tina; Vohra, Jitendra; Volders, Paul G. A.; van Waning, Jaap I.; Whiffin, Nicola; van den Wijngaard, Arthur; Amin, Ahmad S.; Wilde, Arthur A. M.; van Woerden, Gijs; Yeates, Laura; Zentner, Dominica; Ashley, Euan A.; Wheeler, Matthew T.; Ware, James S.; van Tintelen, J. Peter; Ingles, JodieShareSaveHeterozygous and homozygous variants in STX1A cause a neurodevelopmental disorder with or without epilepsy2022-12-2311OAAILuppe, Johannes; Sticht, Heinrich; Lecoquierre, Francois; Goldenberg, Alice; Gorman, Kathleen M.; Molloy, Ben; Agolini, Emanuele; Novelli, Antonio; Briuglia, Silvana; Kuismin, Outi; Marcelis, Carlo; Vitobello, Antonio; Denomme-Pichon, Anne-Sophie; Julia, Sophie; Lemke, Johannes R.; Abou Jamra, Rami; Platzer, Konrad
2022-12-2311OAAILuppe, Johannes; Sticht, Heinrich; Lecoquierre, Francois; Goldenberg, Alice; Gorman, Kathleen M.; Molloy, Ben; Agolini, Emanuele; Novelli, Antonio; Briuglia, Silvana; Kuismin, Outi; Marcelis, Carlo; Vitobello, Antonio; Denomme-Pichon, Anne-Sophie; Julia, Sophie; Lemke, Johannes R.; Abou Jamra, Rami; Platzer, KonradShareSaveA genome-wide association study with tissue transcriptomics identifies genetic drivers for classic bladder exstrophy2022-11-094OAAIMingardo, Enrico; Beaman, Glenda; Grote, Philip; Nordenskjold, Agneta; Newman, William; Woolf, Adrian S.; Eckstein, Markus; Hilger, Alina C.; Dworschak, Gabriel C.; Roesch, Wolfgang; Ebert, Anne-Karolin; Stein, Raimund; Brusco, Alfredo; Di Grazia, Massimo; Tamer, Ali; Torres, Federico M.; Hernandez, Jose L.; Erben, Philipp; Maj, Carlo; Olmos, Jose M.; Riancho, Jose A.; Valero, Carmen; Hostettler, Isabel C.; Houlden, Henry; Werring, David J.; Schumacher, Johannes; Gehlen, Jan; Giel, Ann-Sophie; Buerfent, Benedikt C.; Arkani, Samara; Akesson, Elisabeth; Rotstein, Emilia; Ludwig, Michael; Holmdahl, Gundela; Giorgio, Elisa; Berettini, Alfredo; Keene, David; Cervellione, Raimondo M.; Younsi, Nina; Ortlieb, Melissa; Oswald, Josef; Haid, Bernhard; Promm, Martin; Neissner, Claudia; Hirsch, Karin; Stehr, Maximilian; Schafer, Frank-Mattias; Schmiedeke, Eberhard; Boemers, Thomas M.; van Rooij, Iris A. L. M.; Feitz, Wouter F. J.; Marcelis, Carlo L. M.; Lacher, Martin; Nelson, Jana; Ure, Benno; Fortmann, Caroline; Gale, Daniel P.; Chan, Melanie M. Y.; Ludwig, Kerstin U.; Noethen, Markus M.; Heilmann, Stefanie; Zwink, Nadine; Jenetzky, Ekkehart; Odermatt, Benjamin; Knapp, Michael; Reutter, Heiko
2022-11-094OAAIMingardo, Enrico; Beaman, Glenda; Grote, Philip; Nordenskjold, Agneta; Newman, William; Woolf, Adrian S.; Eckstein, Markus; Hilger, Alina C.; Dworschak, Gabriel C.; Roesch, Wolfgang; Ebert, Anne-Karolin; Stein, Raimund; Brusco, Alfredo; Di Grazia, Massimo; Tamer, Ali; Torres, Federico M.; Hernandez, Jose L.; Erben, Philipp; Maj, Carlo; Olmos, Jose M.; Riancho, Jose A.; Valero, Carmen; Hostettler, Isabel C.; Houlden, Henry; Werring, David J.; Schumacher, Johannes; Gehlen, Jan; Giel, Ann-Sophie; Buerfent, Benedikt C.; Arkani, Samara; Akesson, Elisabeth; Rotstein, Emilia; Ludwig, Michael; Holmdahl, Gundela; Giorgio, Elisa; Berettini, Alfredo; Keene, David; Cervellione, Raimondo M.; Younsi, Nina; Ortlieb, Melissa; Oswald, Josef; Haid, Bernhard; Promm, Martin; Neissner, Claudia; Hirsch, Karin; Stehr, Maximilian; Schafer, Frank-Mattias; Schmiedeke, Eberhard; Boemers, Thomas M.; van Rooij, Iris A. L. M.; Feitz, Wouter F. J.; Marcelis, Carlo L. M.; Lacher, Martin; Nelson, Jana; Ure, Benno; Fortmann, Caroline; Gale, Daniel P.; Chan, Melanie M. Y.; Ludwig, Kerstin U.; Noethen, Markus M.; Heilmann, Stefanie; Zwink, Nadine; Jenetzky, Ekkehart; Odermatt, Benjamin; Knapp, Michael; Reutter, HeikoShareSaveGenetic Evaluation of A Nation-Wide Dutch Pediatric DCM Cohort: The Use of Genetic Testing in Risk Stratification2022-09-3012OAAIvan der Meulen, Marijke H.; Herkert, Johanna C.; den Boer, Susanna L.; Sarvaas, Gideon J. du Marchie; Blom, Nico A.; ten Harkel, Arend D. J.; Breur, Hans M. P. J.; Rammeloo, Lukas A. J.; Tanke, Ronald B.; Marcelis, Carlo; van de Laar, Ingrid M. B. H.; Verhagen, Judith M. A.; Deprez, Ronald H. Lekanne dit; Barge-Schaapveld, Daniela Q. C. M.; Baas, Annette F.; Sammani, Arjan; Christiaans, Imke; van Tintelen, J. Peter; Dalinghaus, Michiel
2022-09-3012OAAIvan der Meulen, Marijke H.; Herkert, Johanna C.; den Boer, Susanna L.; Sarvaas, Gideon J. du Marchie; Blom, Nico A.; ten Harkel, Arend D. J.; Breur, Hans M. P. J.; Rammeloo, Lukas A. J.; Tanke, Ronald B.; Marcelis, Carlo; van de Laar, Ingrid M. B. H.; Verhagen, Judith M. A.; Deprez, Ronald H. Lekanne dit; Barge-Schaapveld, Daniela Q. C. M.; Baas, Annette F.; Sammani, Arjan; Christiaans, Imke; van Tintelen, J. Peter; Dalinghaus, MichielShareSaveThe MAP3K7 gene: Further delineation of clinical characteristics and genotype/phenotype correlationsHUMAN MUTATION2022-07-297OAAIvan Woerden, Geeske M.; Senden, Richelle; de Konink, Charlotte; Trezza, Rossella A.; Baban, Anwar; Bassetti, Jennifer A.; van Bever, Yolande; Bird, Lynne M.; van Bon, Bregje W.; Brooks, Alice S.; Guan, Qiaoning; Klee, Eric W.; Marcelis, Carlo; Rosado, Joel M.; Schimmenti, Lisa A.; Shikany, Amy R.; Terhal, Paulien A.; Weaver, Kathryn Nicole; Wessels, Marja W.; van Wieringen, Hester; Hurst, Anna C.; Gooch, Catherine F.; Steindl, Katharina; Joset, Pascal; Rauch, Anita; Tartaglia, Marco; Niceta, Marcello; Elgersma, Ype; Demirdas, Serwet
HUMAN MUTATIONIF3.7
2022-07-297OAAIvan Woerden, Geeske M.; Senden, Richelle; de Konink, Charlotte; Trezza, Rossella A.; Baban, Anwar; Bassetti, Jennifer A.; van Bever, Yolande; Bird, Lynne M.; van Bon, Bregje W.; Brooks, Alice S.; Guan, Qiaoning; Klee, Eric W.; Marcelis, Carlo; Rosado, Joel M.; Schimmenti, Lisa A.; Shikany, Amy R.; Terhal, Paulien A.; Weaver, Kathryn Nicole; Wessels, Marja W.; van Wieringen, Hester; Hurst, Anna C.; Gooch, Catherine F.; Steindl, Katharina; Joset, Pascal; Rauch, Anita; Tartaglia, Marco; Niceta, Marcello; Elgersma, Ype; Demirdas, SerwetShareSaveGermline variants in tumor suppressor FBXW7 lead to impaired ubiquitination and a neurodevelopmental syndrome2022-04-0120OAAIStephenson, Sarah E. M.; Costain, Gregory; Blok, Laura E. R.; Silk, Michael A.; Nguyen, Thanh Binh; Dong, Xiaomin; Alhuzaimi, Dana E.; Dowling, James J.; Walker, Susan; Amburgey, Kimberly; Hayeems, Robin Z.; Rodan, Lance H.; Schwartz, Marc A.; Picker, Jonathan; Lynch, Sally A.; Gupta, Aditi; Rasmussen, Kristen J.; Schimmenti, Lisa A.; Klee, Eric W.; Niu, Zhiyv; Agre, Katherine E.; Chilton, Ilana; Chung, Wendy K.; Revah-Politi, Anya; Au, P. Y. Billie; Griffith, Christopher; Racobaldo, Melissa; Raas-Rothschild, Annick; Ben Zeev, Bruria; Barel, Ortal; Moutton, Sebastien; Morice-Picard, Fanny; Carmignac, Virginie; Cornaton, Jenny; Marle, Nathalie; Devinsky, Orrin; Stimach, Chandler; Wechsler, Stephanie Burns; Hainline, Bryan E.; Sapp, Katie; Willems, Marjolaine; Bruel, Angeline; Dias, Kerith-Rae; Evans, Carey-Anne; Roscioli, Tony; Sachdev, Rani; Temple, Suzanna E. L.; Zhu, Ying; Baker, Joshua J.; Scheffer, Ingrid E.; Gardiner, Fiona J.; Schneider, Amy L.; Muir, Alison M.; Mefford, Heather C.; Crunk, Amy; Heise, Elizabeth M.; Millan, Francisca; Monaghan, Kristin G.; Person, Richard; Rhodes, Lindsay; Richards, Sarah; Wentzensen, Ingrid M.; Cogne, Benjamin; Isidor, Bertrand; Nizon, Mathilde; Vincent, Marie; Besnard, Thomas; Piton, Amelie; Marcelis, Carlo; Kato, Kohji; Koyama, Norihisa; Ogi, Tomoo; Goh, Elaine Suk-Ying; Richmond, Christopher; Amor, David J.; Boyce, Jessica O.; Morgan, Angela T.; Hildebrand, Michael S.; Kaspi, Antony; Bahlo, Melanie; Fridriksdottir, Run; Katrinardottir, Hildigunnur; Sulem, Patrick; Stefansson, Kari; Bjornsson, Hans Tomas; Mandelstam, Simone; Morleo, Manuela; Mariani, Milena; Scala, Marcello; Accogli, Andrea; Torella, Annalaura; Capra, Valeria; Wallis, Mathew; Jansen, Sandra; Waisfisz, Quinten; de Haan, Hugoline; Sadedin, Simon; Lim, Sze Chern; White, Susan M.; Ascher, David B.; Schenck, Annette; Lockhart, Paul J.; Christodoulou, John; Tan, Tiong Yang
2022-04-0120OAAIStephenson, Sarah E. M.; Costain, Gregory; Blok, Laura E. R.; Silk, Michael A.; Nguyen, Thanh Binh; Dong, Xiaomin; Alhuzaimi, Dana E.; Dowling, James J.; Walker, Susan; Amburgey, Kimberly; Hayeems, Robin Z.; Rodan, Lance H.; Schwartz, Marc A.; Picker, Jonathan; Lynch, Sally A.; Gupta, Aditi; Rasmussen, Kristen J.; Schimmenti, Lisa A.; Klee, Eric W.; Niu, Zhiyv; Agre, Katherine E.; Chilton, Ilana; Chung, Wendy K.; Revah-Politi, Anya; Au, P. Y. Billie; Griffith, Christopher; Racobaldo, Melissa; Raas-Rothschild, Annick; Ben Zeev, Bruria; Barel, Ortal; Moutton, Sebastien; Morice-Picard, Fanny; Carmignac, Virginie; Cornaton, Jenny; Marle, Nathalie; Devinsky, Orrin; Stimach, Chandler; Wechsler, Stephanie Burns; Hainline, Bryan E.; Sapp, Katie; Willems, Marjolaine; Bruel, Angeline; Dias, Kerith-Rae; Evans, Carey-Anne; Roscioli, Tony; Sachdev, Rani; Temple, Suzanna E. L.; Zhu, Ying; Baker, Joshua J.; Scheffer, Ingrid E.; Gardiner, Fiona J.; Schneider, Amy L.; Muir, Alison M.; Mefford, Heather C.; Crunk, Amy; Heise, Elizabeth M.; Millan, Francisca; Monaghan, Kristin G.; Person, Richard; Rhodes, Lindsay; Richards, Sarah; Wentzensen, Ingrid M.; Cogne, Benjamin; Isidor, Bertrand; Nizon, Mathilde; Vincent, Marie; Besnard, Thomas; Piton, Amelie; Marcelis, Carlo; Kato, Kohji; Koyama, Norihisa; Ogi, Tomoo; Goh, Elaine Suk-Ying; Richmond, Christopher; Amor, David J.; Boyce, Jessica O.; Morgan, Angela T.; Hildebrand, Michael S.; Kaspi, Antony; Bahlo, Melanie; Fridriksdottir, Run; Katrinardottir, Hildigunnur; Sulem, Patrick; Stefansson, Kari; Bjornsson, Hans Tomas; Mandelstam, Simone; Morleo, Manuela; Mariani, Milena; Scala, Marcello; Accogli, Andrea; Torella, Annalaura; Capra, Valeria; Wallis, Mathew; Jansen, Sandra; Waisfisz, Quinten; de Haan, Hugoline; Sadedin, Simon; Lim, Sze Chern; White, Susan M.; Ascher, David B.; Schenck, Annette; Lockhart, Paul J.; Christodoulou, John; Tan, Tiong YangShareSaveDe novo DHDDS variants cause a neurodevelopmental and neurodegenerative disorder with myoclonusBRAIN2021-08-1116OAAIGalosi, 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, 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, VincenzoShareSaveAn ancestral 10-bp repeat expansion in VWA1 causes recessive hereditary motor neuropathyBRAIN2021-01-1827OAAIPagnamenta, Alistair T.; Kaiyrzhanov, Rauan; Zou, Yaqun; Da, Sahar, I; Maroofian, Reza; Donkervoort, Sandra; Dominik, Natalia; Lauffer, Marlen; Ferla, Matteo P.; Orioli, Andrea; Giess, Adam; Tucci, Arianna; Beetz, Christian; Sedghi, Maryam; Ansari, Behnaz; Barresi, Rita; Basiri, Keivan; Cortese, Andrea; Elgar, Greg; Fernandez-Garcia, Miguel A.; Yip, Janice; Foley, A. Reghan; Gutowski, Nicholas; Jungbluth, Heinz; Lassche, Saskia; Lavin, Tim; Marcelis, Carlo; Marks, Peter; Marini-Bettolo, Chiara; Medne, Livija; Moslemi, Ali-Reza; Sarkozy, Anna; Reilly, Mary M.; Muntoni, Francesco; Millan, Francisca; Muraresku, Colleen C.; Need, Anna C.; Nemeth, Andrea H.; Neuhaus, Sarah B.; Norwood, Fiona; Marie, O.; O'Driscoll, Mary; Rankin, Julia; Yum, Sabrina W.; Zolkipli-Cunningham, Zarazuela; Brusius, Isabell; Wunderlich, Gilbert; Karakaya, Mert; Wirth, Brunhilde; Fakhro, Khalid A.; Tajsharghi, Homa; Bonnemann, Carsten G.; Taylor, Jenny C.; Houlden, Henry
BRAINIF11.7
2021-01-1827OAAIPagnamenta, Alistair T.; Kaiyrzhanov, Rauan; Zou, Yaqun; Da, Sahar, I; Maroofian, Reza; Donkervoort, Sandra; Dominik, Natalia; Lauffer, Marlen; Ferla, Matteo P.; Orioli, Andrea; Giess, Adam; Tucci, Arianna; Beetz, Christian; Sedghi, Maryam; Ansari, Behnaz; Barresi, Rita; Basiri, Keivan; Cortese, Andrea; Elgar, Greg; Fernandez-Garcia, Miguel A.; Yip, Janice; Foley, A. Reghan; Gutowski, Nicholas; Jungbluth, Heinz; Lassche, Saskia; Lavin, Tim; Marcelis, Carlo; Marks, Peter; Marini-Bettolo, Chiara; Medne, Livija; Moslemi, Ali-Reza; Sarkozy, Anna; Reilly, Mary M.; Muntoni, Francesco; Millan, Francisca; Muraresku, Colleen C.; Need, Anna C.; Nemeth, Andrea H.; Neuhaus, Sarah B.; Norwood, Fiona; Marie, O.; O'Driscoll, Mary; Rankin, Julia; Yum, Sabrina W.; Zolkipli-Cunningham, Zarazuela; Brusius, Isabell; Wunderlich, Gilbert; Karakaya, Mert; Wirth, Brunhilde; Fakhro, Khalid A.; Tajsharghi, Homa; Bonnemann, Carsten G.; Taylor, Jenny C.; Houlden, HenryShareSaveA mutation update for the FLNC gene in myopathies and cardiomyopathiesHUMAN MUTATION2020-03-20125OAAIVerdonschot, Job A. J.; Vanhoutte, Els K.; Claes, Godelieve R. F.; van den Enden, Apollonia T. J. M. Helderman; Hoeijmakers, Janneke G. J.; Hellebrekers, Debby M. E. I.; Haan, Amber de; Christiaans, Imke; Deprez, Ronald H. Lekanne; Boen, Hanne M.; Craenenbroeck, Emeline M. van; Loeys, Bart L.; Hoedemaekers, Yvonne M.; Marcelis, Carlo; Kempers, Marlies; Brusse, Esther; Waning, Jaap I.; Baas, Annette F.; Dooijes, Dennis; Asselbergs, Folkert W.; Barge-Schaapveld, Daniela Q. C. M.; Koopman, Pieter; Wijngaard, Arthur van den; Heymans, Stephane R. B.; Krapels, Ingrid P. C.; Brunner, Han G.
HUMAN MUTATIONIF3.7
2020-03-20125OAAIVerdonschot, Job A. J.; Vanhoutte, Els K.; Claes, Godelieve R. F.; van den Enden, Apollonia T. J. M. Helderman; Hoeijmakers, Janneke G. J.; Hellebrekers, Debby M. E. I.; Haan, Amber de; Christiaans, Imke; Deprez, Ronald H. Lekanne; Boen, Hanne M.; Craenenbroeck, Emeline M. van; Loeys, Bart L.; Hoedemaekers, Yvonne M.; Marcelis, Carlo; Kempers, Marlies; Brusse, Esther; Waning, Jaap I.; Baas, Annette F.; Dooijes, Dennis; Asselbergs, Folkert W.; Barge-Schaapveld, Daniela Q. C. M.; Koopman, Pieter; Wijngaard, Arthur van den; Heymans, Stephane R. B.; Krapels, Ingrid P. C.; Brunner, Han G.ShareSaveSpectrum of congenital anomalies among VACTERL cases: a EUROCAT population-based studyPEDIATRIC RESEARCH2019-09-0936OAAIvan de Putte, Romy; van Rooij, Iris A. L. M.; Marcelis, Carlo L. M.; Guo, Michel; Brunner, Han G.; Addor, Marie-Claude; Cavero-Carbonell, Clara; Dias, Carlos M.; Draper, Elizabeth S.; Etxebarriarteun, Larraitz; Gatt, Miriam; Haeusler, Martin; Khoshnood, Babak; Klungsoyr, Kari; Kurinczuk, Jenny J.; Lanzoni, Monica; Latos-Bielenska, Anna; Luyt, Karen; O'Mahony, Mary T.; Miller, Nicola; Mullaney, Carmel; Nelen, Vera; Neville, Amanda J.; Perthus, Isabelle; Pierini, Anna; Randrianaivo, Hanitra; Rankin, Judith; Rissmann, Anke; Rouget, Florence; Schaub, Bruno; Tucker, David; Wellesley, Diana; Wiesel, Awi; Zymak-Zakutnia, Natalya; Loane, Maria; Barisic, Ingeborg; de Walle, Hermien E. K.; Roeleveld, Nel; Bergman, Jorieke E. H.
PEDIATRIC RESEARCHIF3.1
2019-09-0936OAAIvan de Putte, Romy; van Rooij, Iris A. L. M.; Marcelis, Carlo L. M.; Guo, Michel; Brunner, Han G.; Addor, Marie-Claude; Cavero-Carbonell, Clara; Dias, Carlos M.; Draper, Elizabeth S.; Etxebarriarteun, Larraitz; Gatt, Miriam; Haeusler, Martin; Khoshnood, Babak; Klungsoyr, Kari; Kurinczuk, Jenny J.; Lanzoni, Monica; Latos-Bielenska, Anna; Luyt, Karen; O'Mahony, Mary T.; Miller, Nicola; Mullaney, Carmel; Nelen, Vera; Neville, Amanda J.; Perthus, Isabelle; Pierini, Anna; Randrianaivo, Hanitra; Rankin, Judith; Rissmann, Anke; Rouget, Florence; Schaub, Bruno; Tucker, David; Wellesley, Diana; Wiesel, Awi; Zymak-Zakutnia, Natalya; Loane, Maria; Barisic, Ingeborg; de Walle, Hermien E. K.; Roeleveld, Nel; Bergman, Jorieke E. H.ShareSaveThe ARID1B spectrum in 143 patients: from nonsyndromic intellectual disability to Coffin-Siris syndrome (vol 21, pg 1295, 2019)GENETICS IN MEDICINE2019-09-015OAAIvan der Sluijs, Pleuntje J.; Jansen, Sandra; Vergano, Samantha A.; Adachi-Fukuda, Miho; Alanay, Yasemin; AlKindy, Adila; Baban, Anwar; Bayat, Allan; Beck-Woedl, Stefanie; Berry, Katherine; Bijlsma, Emilia K.; Bok, Levinus A.; Brouwer, Alwin F. J.; van der Burgt, Ineke; Campeau, Philippe M.; Canham, Natalie; Chrzanowska, Krystyna; Chu, Yoyo W. Y.; Chung, Brain H. Y.; Dahan, Karin; De Rademaeker, Marjan; Destree, Anne; Dudding-Byth, Tracy; Earl, Rachel; Elcioglu, Nursel; Elias, Ellen R.; Fagerberg, Christina; Gardham, Alice; Gener, Blanca; Gerkes, Erica H.; Grasshoff, Ute; van Haeringen, Arie; Heitink, Karin R.; Herkert, Johanna C.; den Hollander, Nicolette S.; Horn, Denise; Hunt, David; Kant, Sarina G.; Kato, Mitsuhiro; Kayserili, Hulya; Kersseboom, Rogier; Kilic, Esra; Krajewska-Walasek, Malgorzata; Lammers, Kylin; Laulund, Lone W.; Lederer, Damien; Lees, Melissa; Lopez-Gonzalez, Vanesa; Maas, Saskia; Mancini, Grazia M. S.; Marcelis, Carlo; Martinez, Francisco; Maystadt, Isabelle; McGuire, Marianne; Mckee, Shane; Mehta, Sarju; Metcalfe, Kay; Milunsky, Jeff; Mizuno, Seiji; Moeschler, John B.; Netzer, Christian; Ockeloen, Charlotte W.; Oehl-Jaschkowitz, Barbara; Okamoto, Nobuhiko; Olminkhof, Sharon N. M.; Orellana, Carmen; Pasquier, Laurent; Pottinger, Caroline; Riehmer, Vera; Robertson, Stephen P.; Roifman, Maian; Rooryck, Caroline; Ropers, Fabienne G.; Rosello, Monica; Ruivenkamp, Claudia A. L.; Sagiroglu, Mahmut S.; Sallevelt, Suzanne C. E. H.; Calvo, Amparo Sanchis; Simsek-Kiper, Pelin O.; Soares, Gabriela; Solaeche, Lucia; Sonmez, Fatma Mujgan; Splitt, Miranda; Steenbeek, Duco; Stegmann, Alexander P. A.; Stumpel, Constance T. R. M.; Tanabe, Saori; Uctepe, Eyyup; Utine, G. Eda; Veenstra-Knol, Hermine E.; Venkateswaran, Sunita; Vilain, Catheline; Vincent-Delorme, Catherine; Vulto-van Silfhout, Anneke T.; Wheeler, Patricia; Wilson, Golder N.; Wilson, Louise C.; Wollnik, Bernd; Kosho, Tomoki; Wieczorek, Dagmar; Eichler, Evan; Pfundt, Rolph; de Vries, Bert B. A.; Clayton-Smith, Jill; Santen, Gijs W. E.
GENETICS IN MEDICINEIF6.2
2019-09-015OAAIvan der Sluijs, Pleuntje J.; Jansen, Sandra; Vergano, Samantha A.; Adachi-Fukuda, Miho; Alanay, Yasemin; AlKindy, Adila; Baban, Anwar; Bayat, Allan; Beck-Woedl, Stefanie; Berry, Katherine; Bijlsma, Emilia K.; Bok, Levinus A.; Brouwer, Alwin F. J.; van der Burgt, Ineke; Campeau, Philippe M.; Canham, Natalie; Chrzanowska, Krystyna; Chu, Yoyo W. Y.; Chung, Brain H. Y.; Dahan, Karin; De Rademaeker, Marjan; Destree, Anne; Dudding-Byth, Tracy; Earl, Rachel; Elcioglu, Nursel; Elias, Ellen R.; Fagerberg, Christina; Gardham, Alice; Gener, Blanca; Gerkes, Erica H.; Grasshoff, Ute; van Haeringen, Arie; Heitink, Karin R.; Herkert, Johanna C.; den Hollander, Nicolette S.; Horn, Denise; Hunt, David; Kant, Sarina G.; Kato, Mitsuhiro; Kayserili, Hulya; Kersseboom, Rogier; Kilic, Esra; Krajewska-Walasek, Malgorzata; Lammers, Kylin; Laulund, Lone W.; Lederer, Damien; Lees, Melissa; Lopez-Gonzalez, Vanesa; Maas, Saskia; Mancini, Grazia M. S.; Marcelis, Carlo; Martinez, Francisco; Maystadt, Isabelle; McGuire, Marianne; Mckee, Shane; Mehta, Sarju; Metcalfe, Kay; Milunsky, Jeff; Mizuno, Seiji; Moeschler, John B.; Netzer, Christian; Ockeloen, Charlotte W.; Oehl-Jaschkowitz, Barbara; Okamoto, Nobuhiko; Olminkhof, Sharon N. M.; Orellana, Carmen; Pasquier, Laurent; Pottinger, Caroline; Riehmer, Vera; Robertson, Stephen P.; Roifman, Maian; Rooryck, Caroline; Ropers, Fabienne G.; Rosello, Monica; Ruivenkamp, Claudia A. L.; Sagiroglu, Mahmut S.; Sallevelt, Suzanne C. E. H.; Calvo, Amparo Sanchis; Simsek-Kiper, Pelin O.; Soares, Gabriela; Solaeche, Lucia; Sonmez, Fatma Mujgan; Splitt, Miranda; Steenbeek, Duco; Stegmann, Alexander P. A.; Stumpel, Constance T. R. M.; Tanabe, Saori; Uctepe, Eyyup; Utine, G. Eda; Veenstra-Knol, Hermine E.; Venkateswaran, Sunita; Vilain, Catheline; Vincent-Delorme, Catherine; Vulto-van Silfhout, Anneke T.; Wheeler, Patricia; Wilson, Golder N.; Wilson, Louise C.; Wollnik, Bernd; Kosho, Tomoki; Wieczorek, Dagmar; Eichler, Evan; Pfundt, Rolph; de Vries, Bert B. A.; Clayton-Smith, Jill; Santen, Gijs W. E.ShareSaveThe ARID1B spectrum in 143 patients: from nonsyndromic intellectual disability to Coffin-Siris syndromeGENETICS IN MEDICINE2019-06-0191OAAIvan der Sluijs, Pleuntje J.; Jansen, Sandra; Vergano, Samantha A.; Adachi-Fukuda, Miho; Alanay, Yasemin; AlKindy, Adila; Baban, Anwar; Bayat, Allan; Beck-Woedl, Stefanie; Berry, Katherine; Bijlsma, Emilia K.; Bok, Levinus A.; Brouwer, Alwin F. J.; van der Burgt, Ineke; Campeau, Philippe M.; Canham, Natalie; Chrzanowska, Krystyna; Chu, Yoyo W. Y.; Chung, Brain H. Y.; Dahan, Karin; De Rademaeker, Marjan; Destree, Anne; Dudding-Byth, Tracy; Earl, Rachel; Elcioglu, Nursel; Elias, Ellen R.; Fagerberg, Christina; Gardham, Alice; Gener, Blanca; Gerkes, Erica H.; Grasshoff, Ute; van Haeringen, Arie; Heitink, Karin R.; Herkert, Johanna C.; den Hollander, Nicolette S.; Horn, Denise; Hunt, David; Kant, Sarina G.; Kato, Mitsuhiro; Kayserili, Hulya; Kersseboom, Rogier; Kilic, Esra; Krajewska-Walasek, Malgorzata; Lammers, Kylin; Laulund, Lone W.; Lederer, Damien; Lees, Melissa; Lopez-Gonzalez, Vanesa; Maas, Saskia; Mancini, Grazia M. S.; Marcelis, Carlo; Martinez, Francisco; Maystadt, Isabelle; McGuire, Marianne; McKee, Shane; Mehta, Sarju; Metcalfe, Kay; Milunsky, Jeff; Mizuno, Seiji; Moeschler, John B.; Netzer, Christian; Ockeloen, Charlotte W.; Oehl-Jaschkowitz, Barbara; Okamoto, Nobuhiko; Olminkhof, Sharon N. M.; Orellana, Carmen; Pasquier, Laurent; Pottinger, Caroline; Riehmer, Vera; Robertson, Stephen P.; Roifman, Maian; Rooryck, Caroline; Ropers, Fabienne G.; Rosello, Monica; Ruivenkamp, Claudia A. L.; Sagiroglu, Mahmut S.; Sallevelt, Suzanne C. E. H.; Sanchis Calvo, Amparo; Simsek-Kiper, Pelin O.; Soares, Gabriela; Solaeche, Lucia; Sonmez, Fatma Mujgan; Splitt, Miranda; Steenbeek, Duco; Stegmann, Alexander P. A.; Stumpel, Constance T. R. M.; Tanabe, Saori; Uctepe, Eyyup; Utine, G. Eda; Veenstra-Knol, Hermine E.; Venkateswaran, Sunita; Vilain, Catheline; Vincent-Delorme, Catherine; Vulto-van Silfhout, Anneke T.; Wheeler, Patricia; Wilson, Golder N.; Wilson, Louise C.; Wollnik, Bernd; Kosho, Tomoki; Wieczorek, Dagmar; Eichler, Evan; Pfundt, Rolph; de Vries, Bert B. A.; Clayton-Smith, Jill; Santen, Gijs W. E.
GENETICS IN MEDICINEIF6.2
2019-06-0191OAAIvan der Sluijs, Pleuntje J.; Jansen, Sandra; Vergano, Samantha A.; Adachi-Fukuda, Miho; Alanay, Yasemin; AlKindy, Adila; Baban, Anwar; Bayat, Allan; Beck-Woedl, Stefanie; Berry, Katherine; Bijlsma, Emilia K.; Bok, Levinus A.; Brouwer, Alwin F. J.; van der Burgt, Ineke; Campeau, Philippe M.; Canham, Natalie; Chrzanowska, Krystyna; Chu, Yoyo W. Y.; Chung, Brain H. Y.; Dahan, Karin; De Rademaeker, Marjan; Destree, Anne; Dudding-Byth, Tracy; Earl, Rachel; Elcioglu, Nursel; Elias, Ellen R.; Fagerberg, Christina; Gardham, Alice; Gener, Blanca; Gerkes, Erica H.; Grasshoff, Ute; van Haeringen, Arie; Heitink, Karin R.; Herkert, Johanna C.; den Hollander, Nicolette S.; Horn, Denise; Hunt, David; Kant, Sarina G.; Kato, Mitsuhiro; Kayserili, Hulya; Kersseboom, Rogier; Kilic, Esra; Krajewska-Walasek, Malgorzata; Lammers, Kylin; Laulund, Lone W.; Lederer, Damien; Lees, Melissa; Lopez-Gonzalez, Vanesa; Maas, Saskia; Mancini, Grazia M. S.; Marcelis, Carlo; Martinez, Francisco; Maystadt, Isabelle; McGuire, Marianne; McKee, Shane; Mehta, Sarju; Metcalfe, Kay; Milunsky, Jeff; Mizuno, Seiji; Moeschler, John B.; Netzer, Christian; Ockeloen, Charlotte W.; Oehl-Jaschkowitz, Barbara; Okamoto, Nobuhiko; Olminkhof, Sharon N. M.; Orellana, Carmen; Pasquier, Laurent; Pottinger, Caroline; Riehmer, Vera; Robertson, Stephen P.; Roifman, Maian; Rooryck, Caroline; Ropers, Fabienne G.; Rosello, Monica; Ruivenkamp, Claudia A. L.; Sagiroglu, Mahmut S.; Sallevelt, Suzanne C. E. H.; Sanchis Calvo, Amparo; Simsek-Kiper, Pelin O.; Soares, Gabriela; Solaeche, Lucia; Sonmez, Fatma Mujgan; Splitt, Miranda; Steenbeek, Duco; Stegmann, Alexander P. A.; Stumpel, Constance T. R. M.; Tanabe, Saori; Uctepe, Eyyup; Utine, G. Eda; Veenstra-Knol, Hermine E.; Venkateswaran, Sunita; Vilain, Catheline; Vincent-Delorme, Catherine; Vulto-van Silfhout, Anneke T.; Wheeler, Patricia; Wilson, Golder N.; Wilson, Louise C.; Wollnik, Bernd; Kosho, Tomoki; Wieczorek, Dagmar; Eichler, Evan; Pfundt, Rolph; de Vries, Bert B. A.; Clayton-Smith, Jill; Santen, Gijs W. E.ShareSaveResearch Directions
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