.png){kind=icon}
.png){kind=icon}
Back
N
Nienke E. Verbeek
university medical center utrecht
37H-index
120Paper Count
4.5KCitation Count
Published Papers 45
Publication Date
- Publication Date
- Impact Factor
- Citations
.png){kind=icon}
Routine RNA-based analysis of potential splicing variants facilitates genomic diagnostics and reveals limitations of in silico prediction tools..png)
2025-09-22
0
Mark Drost; Jordy Dekker; Federico Ferraro; Esmee Kasteleijn; Marije Verschuren; Evelien Kroon; Hannie C.W. Douben; Inte Vogt; Leontine van Unen; Marianne Hoogeveen-Westerveld; Peter Elfferich; Rachel Schot; Camilla Calandrini; Esther Korpershoek; Frank Sleutels; Hennie B.R. Brüggenwirth; Iris R. Hollink; Lisette Meerstein-Kessel; Lies H. Hoefsloot; Marjon van Slegtenhorst; Martina Wilke; Marjolein J.A. Weerts; Rick van Minkelen; Anja Wagner; Arjan Bouman; Barbara W. van Paassen; Grazia M. Verheijen-Mancini; Ingrid M.B.H.van de Laar; J.A. Kievit; Judith M.A. Verhagen; Kyra E. Stuurman; Laura Donker Kaat; Marieke F. van Dooren; Marja W. Wessels; Rogier A. Oldenburg; Shimriet Zeidler; Tessa van Dijk; T.Stefan Barakat; Virginie J.M. Verhoeven; Yolande van Bever; Yvette van Ierland; Natalja Bannink; Silvana van Koningsbruggen; Phillis Lakeman; Lisette Leeuwen; Nienke E. Verbeek; Margje Sinnema; Malou Heijligers; Christi J. van Asperen; Jasper J. Saris; Mark Nellist; Tjakko J. van Ham
2025-09-220PREAI
Mark Drost; Jordy Dekker; Federico Ferraro; Esmee Kasteleijn; Marije Verschuren; Evelien Kroon; Hannie C.W. Douben; Inte Vogt; Leontine van Unen; Marianne Hoogeveen-Westerveld; Peter Elfferich; Rachel Schot; Camilla Calandrini; Esther Korpershoek; Frank Sleutels; Hennie B.R. Brüggenwirth; Iris R. Hollink; Lisette Meerstein-Kessel; Lies H. Hoefsloot; Marjon van Slegtenhorst; Martina Wilke; Marjolein J.A. Weerts; Rick van Minkelen; Anja Wagner; Arjan Bouman; Barbara W. van Paassen; Grazia M. Verheijen-Mancini; Ingrid M.B.H.van de Laar; J.A. Kievit; Judith M.A. Verhagen; Kyra E. Stuurman; Laura Donker Kaat; Marieke F. van Dooren; Marja W. Wessels; Rogier A. Oldenburg; Shimriet Zeidler; Tessa van Dijk; T.Stefan Barakat; Virginie J.M. Verhoeven; Yolande van Bever; Yvette van Ierland; Natalja Bannink; Silvana van Koningsbruggen; Phillis Lakeman; Lisette Leeuwen; Nienke E. Verbeek; Margje Sinnema; Malou Heijligers; Christi J. van Asperen; Jasper J. Saris; Mark Nellist; Tjakko J. van Ham.png){kind=icon}
Share.png){kind=icon}
SaveMissense variants in ANO4 cause sporadic encephalopathic or familial epilepsy with evidence for a dominant-negative effect2024-06-015
OAAIYang, Fang; Begemann, Anais; Reichhart, Nadine; Haeckel, Akvile; Steindl, Katharina; Schellenberger, Eyk; Sturm, Ronja Fini; Barth, Magalie; Bassani, Sissy; Boonsawat, Paranchai; Courtin, Thomas; Delobel, Bruno; Gunning, Boudewijn; Hardies, Katia; Jennesson, Melanie; Legoff, Louis; Linnankivi, Tarja; Prouteau, Clement; Smal, Noor; Spodenkiewicz, Marta; Toelle, Sandra P.; Van Gassen, Koen; Van Paesschen, Wim; Verbeek, Nienke; Ziegler, Alban; Zweier, Markus; Horn, Anselm H. C.; Sticht, Heinrich; Lerche, Holger; Weckhuysen, Sarah; Strauss, Olaf; Rauch, Anita
2024-06-015OAAIYang, Fang; Begemann, Anais; Reichhart, Nadine; Haeckel, Akvile; Steindl, Katharina; Schellenberger, Eyk; Sturm, Ronja Fini; Barth, Magalie; Bassani, Sissy; Boonsawat, Paranchai; Courtin, Thomas; Delobel, Bruno; Gunning, Boudewijn; Hardies, Katia; Jennesson, Melanie; Legoff, Louis; Linnankivi, Tarja; Prouteau, Clement; Smal, Noor; Spodenkiewicz, Marta; Toelle, Sandra P.; Van Gassen, Koen; Van Paesschen, Wim; Verbeek, Nienke; Ziegler, Alban; Zweier, Markus; Horn, Anselm H. C.; Sticht, Heinrich; Lerche, Holger; Weckhuysen, Sarah; Strauss, Olaf; Rauch, AnitaShareSaveThe detection of a strong episignature for Chung-Jansen syndrome, partially overlapping with Börjeson-Forssman-Lehmann and White-Kernohan syndromes.png)
HUMAN 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.ShareSaveDNA methylation episignature and comparative epigenomic profiling of HNRNPU-related neurodevelopmental disorderGENETICS IN MEDICINE2023-08-0111Rooney, Kathleen; van der Laan, Liselot; Trajkova, Slavica; Haghshenas, Sadegheh; Relator, Raissa; Lauffer, Peter; Vos, Niels; Levy, Michael A.; Brunetti-Pierri, Nicola; Terrone, Gaetano; Mignot, Cyril; Keren, Boris; Villemeur, Thierry B. de; Volker-Touw, Catharina M. L.; Verbeek, Nienke; Smagt, Jasper J. van der; Oegema, Renske; Brusco, Alfredo; Ferrero, Giovanni B.; Misra-Isrie, Mala; Hochstenbach, Ron; Alders, Marielle; Mannens, Marcel M. A. M.; Sadikovic, Bekim; van Haelst, Mieke M.; Henneman, Peter
GENETICS IN MEDICINEIF6.2
2023-08-0111PREAI
Rooney, Kathleen; van der Laan, Liselot; Trajkova, Slavica; Haghshenas, Sadegheh; Relator, Raissa; Lauffer, Peter; Vos, Niels; Levy, Michael A.; Brunetti-Pierri, Nicola; Terrone, Gaetano; Mignot, Cyril; Keren, Boris; Villemeur, Thierry B. de; Volker-Touw, Catharina M. L.; Verbeek, Nienke; Smagt, Jasper J. van der; Oegema, Renske; Brusco, Alfredo; Ferrero, Giovanni B.; Misra-Isrie, Mala; Hochstenbach, Ron; Alders, Marielle; Mannens, Marcel M. A. M.; Sadikovic, Bekim; van Haelst, Mieke M.; Henneman, PeterShareSaveDetection of the ACAGG Repeat Motif in RFC1 in Two Dutch Ataxia FamiliesMOVEMENT DISORDERS2023-05-114OAAIvan de Pol, Milo; O'Gorman, Luke; Corominas-Galbany, Jordi; Cliteur, Maaike; Derks, Ronny; Verbeek, Nienke E.; van de Warrenburg, Bart; Kamsteeg, Erik-Jan
MOVEMENT DISORDERSIF7.6
2023-05-114OAAIvan de Pol, Milo; O'Gorman, Luke; Corominas-Galbany, Jordi; Cliteur, Maaike; Derks, Ronny; Verbeek, Nienke E.; van de Warrenburg, Bart; Kamsteeg, Erik-JanShareSaveDelineation of a KDM2B-related neurodevelopmental disorder and its associated DNA methylation signatureGENETICS IN MEDICINE2023-01-0111OAAIvan Jaarsveld, Richard H.; Reilly, Jack; Cornips, Marie-Claire; Hadders, Michael A.; Agolini, Emanuele; Ahimaz, Priyanka; Anyane-Yeboa, Kwame; Bellanger, Severine Audebert; van Binsbergen, Ellen; van den Boogaard, Marie-Jose; Brischoux-Boucher, Elise; Caylor, Raymond C.; Ciolfi, Andrea; van Essen, Ton A. J.; Fontana, Paolo; Hopman, Saskia; Iascone, Maria; Javier, Margaret M.; Kamsteeg, Erik-Jan; Kerkhof, Jennifer; Kido, Jun; Kim, Hyung-Goo; Kleefstra, Tjitske; Lonardo, Fortunato; Lai, Abbe; Lev, Dorit; Levy, Michael A.; Lewis, M. E. Suzanne; Lichty, Angie; Mannens, Marcel M. A. M.; Matsumoto, Naomichi; Maya, Idit; McConkey, Haley; Megarbane, Andre; Michaud, Vincent; Miele, Evelina; Niceta, Marcello; Novelli, Antonio; Onesimo, Roberta; Pfundt, Rolph; Popp, Bernt; Prijoles, Eloise; Relator, Raissa; Redon, Sylvia; Rots, Dmitrijs; Rouault, Karen; Saida, Ken; Schieving, Jolanda; Tartaglia, Marco; Tenconi, Romano; Uguen, Kevin; Verbeek, Nienke; Walsh, Christopher A.; Yosovich, Keren; Yuskaitis, Christopher J.; Zampino, Giuseppe; Sadikovic, Bekim; Alders, Marielle; Oegema, Renske
GENETICS IN MEDICINEIF6.2
2023-01-0111OAAIvan Jaarsveld, Richard H.; Reilly, Jack; Cornips, Marie-Claire; Hadders, Michael A.; Agolini, Emanuele; Ahimaz, Priyanka; Anyane-Yeboa, Kwame; Bellanger, Severine Audebert; van Binsbergen, Ellen; van den Boogaard, Marie-Jose; Brischoux-Boucher, Elise; Caylor, Raymond C.; Ciolfi, Andrea; van Essen, Ton A. J.; Fontana, Paolo; Hopman, Saskia; Iascone, Maria; Javier, Margaret M.; Kamsteeg, Erik-Jan; Kerkhof, Jennifer; Kido, Jun; Kim, Hyung-Goo; Kleefstra, Tjitske; Lonardo, Fortunato; Lai, Abbe; Lev, Dorit; Levy, Michael A.; Lewis, M. E. Suzanne; Lichty, Angie; Mannens, Marcel M. A. M.; Matsumoto, Naomichi; Maya, Idit; McConkey, Haley; Megarbane, Andre; Michaud, Vincent; Miele, Evelina; Niceta, Marcello; Novelli, Antonio; Onesimo, Roberta; Pfundt, Rolph; Popp, Bernt; Prijoles, Eloise; Relator, Raissa; Redon, Sylvia; Rots, Dmitrijs; Rouault, Karen; Saida, Ken; Schieving, Jolanda; Tartaglia, Marco; Tenconi, Romano; Uguen, Kevin; Verbeek, Nienke; Walsh, Christopher A.; Yosovich, Keren; Yuskaitis, Christopher J.; Zampino, Giuseppe; Sadikovic, Bekim; Alders, Marielle; Oegema, RenskeShareSaveATP6V0C variants impair V-ATPase function causing a neurodevelopmental disorder often associated with epilepsyBRAIN2022-09-089
OAAIMattison, Kari A.; Tossing, Gilles; Mulroe, Fred; Simmons, Callum; Butler, Kameryn M.; Schreiber, Alison; Alsadah, Adnan; Neilson, Derek E.; Naess, Karin; Wedell, Anna; Wredenberg, Anna; Sorlin, Arthur; McCann, Emma; Burghel, George J.; Menendez, Beatriz; Hoganson, George E.; Botto, Lorenzo D.; Filloux, Francis M.; Aledo-Serrano, Angel; Gil-Nagel, Antonio; Tatton-Brown, Katrina; Verbeek, Nienke E.; van der Zwaag, Bert; Aleck, Kyrieckos A.; Fazenbaker, Andrew C.; Balciuniene, Jorune; Dubbs, Holly A.; Marsh, Eric D.; Garber, Kathryn; Ek, Jakob; Duno, Morten; Hoei-Hansen, Christina E.; Deardorff, Matthew A.; Raca, Gordana; Quindipan, Catherine; van Hirtum-Das, Michele; Breckpot, Jeroen; Hammer, Trine Bjorg; Moller, Rikke S.; Whitney, Andrea; Douglas, Andrew G. L.; Kharbanda, Mira; Brunetti-Pierri, Nicola; Morleo, Manuela; Nigro, Vincenzo; May, Halie J.; Tao, James X.; Argilli, Emanuela; Sherr, Elliot H.; Dobyns, William B.; Baines, Richard A.; Warwicker, Jim; Parker, J. Alex; Banka, Siddharth; Campeau, Philippe M.; Escayg, Andrew
BRAINIF11.7
2022-09-089OAAIMattison, Kari A.; Tossing, Gilles; Mulroe, Fred; Simmons, Callum; Butler, Kameryn M.; Schreiber, Alison; Alsadah, Adnan; Neilson, Derek E.; Naess, Karin; Wedell, Anna; Wredenberg, Anna; Sorlin, Arthur; McCann, Emma; Burghel, George J.; Menendez, Beatriz; Hoganson, George E.; Botto, Lorenzo D.; Filloux, Francis M.; Aledo-Serrano, Angel; Gil-Nagel, Antonio; Tatton-Brown, Katrina; Verbeek, Nienke E.; van der Zwaag, Bert; Aleck, Kyrieckos A.; Fazenbaker, Andrew C.; Balciuniene, Jorune; Dubbs, Holly A.; Marsh, Eric D.; Garber, Kathryn; Ek, Jakob; Duno, Morten; Hoei-Hansen, Christina E.; Deardorff, Matthew A.; Raca, Gordana; Quindipan, Catherine; van Hirtum-Das, Michele; Breckpot, Jeroen; Hammer, Trine Bjorg; Moller, Rikke S.; Whitney, Andrea; Douglas, Andrew G. L.; Kharbanda, Mira; Brunetti-Pierri, Nicola; Morleo, Manuela; Nigro, Vincenzo; May, Halie J.; Tao, James X.; Argilli, Emanuela; Sherr, Elliot H.; Dobyns, William B.; Baines, Richard A.; Warwicker, Jim; Parker, J. Alex; Banka, Siddharth; Campeau, Philippe M.; Escayg, AndrewShareSaveLoss-of-function variants in SRRM2 cause a neurodevelopmental disorderGENETICS IN MEDICINE2022-08-0114OAAICuinat, Silvestre; Nizon, Mathilde; Isidor, Bertrand; Stegmann, Alexander; van Jaarsveld, Richard H.; van Gassen, Koen L.; van der Smagt, Jasper J.; Volker-Touw, Catharina M. L.; Holwerda, Sjoerd J. B.; Terhal, Paulien A.; Schuhmann, Sarah; Vasileiou, Georgia; Khalifa, Mohamed; Nugud, Alaa A.; Yasaei, Hemad; Ousager, Lilian Bomme; Brasch-Andersen, Charlotte; Deb, Wallid; Besnard, Thomas; Simon, Marleen E. H.; Huijsdens-van Amsterdam, Karin; Verbeek, Nienke E.; Matalon, Dena; Dykzeul, Natalie; White, Shana; Spiteri, Elizabeth; Devriendt, Koen; Boogaerts, Anneleen; Willemsen, Marjolein; Brunner, Han G.; Sinnema, Margje; De Vries, Bert B. A.; Gerkes, Erica H.; Pfundt, Rolph; Izumi, Kosuke; Krantz, Ian D.; Xu, Zhou L.; Murrell, Jill R.; Valenzuela, Irene; Cusco, Ivon; Rovira-Moreno, Eulalia; Yang, Yaping; Bizaoui, Varoona; Patat, Olivier; Faivre, Laurence; Tran-Mau-Them, Frederic; Vitobello, Antonio; Denomme-Pichon, Anne-Sophie; Philippe, Christophe; Bezieau, Stephane; Cogne, Benjamin
GENETICS IN MEDICINEIF6.2
2022-08-0114OAAICuinat, Silvestre; Nizon, Mathilde; Isidor, Bertrand; Stegmann, Alexander; van Jaarsveld, Richard H.; van Gassen, Koen L.; van der Smagt, Jasper J.; Volker-Touw, Catharina M. L.; Holwerda, Sjoerd J. B.; Terhal, Paulien A.; Schuhmann, Sarah; Vasileiou, Georgia; Khalifa, Mohamed; Nugud, Alaa A.; Yasaei, Hemad; Ousager, Lilian Bomme; Brasch-Andersen, Charlotte; Deb, Wallid; Besnard, Thomas; Simon, Marleen E. H.; Huijsdens-van Amsterdam, Karin; Verbeek, Nienke E.; Matalon, Dena; Dykzeul, Natalie; White, Shana; Spiteri, Elizabeth; Devriendt, Koen; Boogaerts, Anneleen; Willemsen, Marjolein; Brunner, Han G.; Sinnema, Margje; De Vries, Bert B. A.; Gerkes, Erica H.; Pfundt, Rolph; Izumi, Kosuke; Krantz, Ian D.; Xu, Zhou L.; Murrell, Jill R.; Valenzuela, Irene; Cusco, Ivon; Rovira-Moreno, Eulalia; Yang, Yaping; Bizaoui, Varoona; Patat, Olivier; Faivre, Laurence; Tran-Mau-Them, Frederic; Vitobello, Antonio; Denomme-Pichon, Anne-Sophie; Philippe, Christophe; Bezieau, Stephane; Cogne, BenjaminShareSaveRecurrent de novo missense variants across multiple histone H4 genes underlie a neurodevelopmental syndrome2022-04-0114OAAITessadori, Federico; Duran, Karen; Knapp, Karen; Fellner, Matthias; Smithson, Sarah; Meireles, Ana Beleza; Elting, Mariet W.; Waisfisz, Quinten; O'Donnell-Luria, Anne; Nowak, Catherine; Douglas, Jessica; Ronan, Anne; Brunet, Theresa; Kotzaeridou, Urania; Svihovec, Shayna; Saenz, Margarita S.; Thiffault, Isabelle; Del Viso, Florencia; Devine, Patrick; Rego, Shannon; Tenney, Jessica; van Haeringen, Arie; Ruivenkamp, Claudia A. L.; Koene, Saskia; Robertson, Stephen P.; Deshpande, Charulata; Pfundt, Rolph; Verbeek, Nienke; van de Kamp, Jiddeke M.; Weiss, Janneke M. M.; Ruiz, Anna; Gabau, Elisabeth; Banne, Ehud; Pepler, Alexander; Bottani, Armand; Laurent, Sacha; Guipponi, Michel; Bijlsma, Emilia; Bruel, Ange-Line; Sorlin, Arthur; Willis, Mary; Powis, Zoe; Smol, Thomas; Vincent-Delorme, Catherine; Baralle, Diana; Colin, Estelle; Revencu, Nicole; Calpena, Eduardo; Wilkie, Andrew O. M.; Chopra, Maya; Cormier-Daire, Valerie; Keren, Boris; Afenjar, Alexandra; Niceta, Marcello; Terracciano, Alessandra; Specchio, Nicola; Tartaglia, Marco; Rio, Marlene; Barcia, Giulia; Rondeau, Sophie; Colson, Cindy; Bakkers, Jeroen; Mace, Peter D.; Bicknell, Louise S.; van Haaften, Gijs
2022-04-0114OAAITessadori, Federico; Duran, Karen; Knapp, Karen; Fellner, Matthias; Smithson, Sarah; Meireles, Ana Beleza; Elting, Mariet W.; Waisfisz, Quinten; O'Donnell-Luria, Anne; Nowak, Catherine; Douglas, Jessica; Ronan, Anne; Brunet, Theresa; Kotzaeridou, Urania; Svihovec, Shayna; Saenz, Margarita S.; Thiffault, Isabelle; Del Viso, Florencia; Devine, Patrick; Rego, Shannon; Tenney, Jessica; van Haeringen, Arie; Ruivenkamp, Claudia A. L.; Koene, Saskia; Robertson, Stephen P.; Deshpande, Charulata; Pfundt, Rolph; Verbeek, Nienke; van de Kamp, Jiddeke M.; Weiss, Janneke M. M.; Ruiz, Anna; Gabau, Elisabeth; Banne, Ehud; Pepler, Alexander; Bottani, Armand; Laurent, Sacha; Guipponi, Michel; Bijlsma, Emilia; Bruel, Ange-Line; Sorlin, Arthur; Willis, Mary; Powis, Zoe; Smol, Thomas; Vincent-Delorme, Catherine; Baralle, Diana; Colin, Estelle; Revencu, Nicole; Calpena, Eduardo; Wilkie, Andrew O. M.; Chopra, Maya; Cormier-Daire, Valerie; Keren, Boris; Afenjar, Alexandra; Niceta, Marcello; Terracciano, Alessandra; Specchio, Nicola; Tartaglia, Marco; Rio, Marlene; Barcia, Giulia; Rondeau, Sophie; Colson, Cindy; Bakkers, Jeroen; Mace, Peter D.; Bicknell, Louise S.; van Haaften, GijsShareSaveStructural mapping of GABRB3 variants reveals genotype-phenotype correlationsGENETICS IN MEDICINE2022-03-0113OAAIJohannesen, Katrine M.; Iqbal, Sumaiya; Guazzi, Milena; Mohammadi, Nazanin A.; Perez-Palma, Eduardo; Schaefer, Elise; De Saint Martin, Anne; Abiwarde, Marie Therese; McTague, Amy; Pons, Roser; Piton, Amelie; Kurian, Manju A.; Ambegaonkar, Gautam; Firth, Helen; Sanchis-Juan, Alba; Deprez, Marie; Jansen, Katrien; De Waele, Liesbeth; Briltra, Eva H.; Verbeek, Nienke E.; van Kempen, Marjan; Fazeli, Walid; Striano, Pasquale; Zara, Federico; Visser, Gerhard; Braakman, Hilde M. H.; Haeusler, Martin; Elbracht, Miriam; Vaher, Ulvi; Smol, Thomas; Lemke, Johannes R.; Platzer, Konrad; Kennedy, Joanna; Klein, Karl Martin; Au, Ping Yee Billie; Smyth, Kimberly; Kaplan, Julie; Thomas, Morgan; Dewenter, Malin K.; Dinopoulos, Argirios; Campbell, Arthur J.; Lal, Dennis; Lederer, Damien; Liao, Vivian W. Y.; Ahring, Philip K.; Moller, Rikke S.; Gardella, Elena
GENETICS IN MEDICINEIF6.2
2022-03-0113OAAIJohannesen, Katrine M.; Iqbal, Sumaiya; Guazzi, Milena; Mohammadi, Nazanin A.; Perez-Palma, Eduardo; Schaefer, Elise; De Saint Martin, Anne; Abiwarde, Marie Therese; McTague, Amy; Pons, Roser; Piton, Amelie; Kurian, Manju A.; Ambegaonkar, Gautam; Firth, Helen; Sanchis-Juan, Alba; Deprez, Marie; Jansen, Katrien; De Waele, Liesbeth; Briltra, Eva H.; Verbeek, Nienke E.; van Kempen, Marjan; Fazeli, Walid; Striano, Pasquale; Zara, Federico; Visser, Gerhard; Braakman, Hilde M. H.; Haeusler, Martin; Elbracht, Miriam; Vaher, Ulvi; Smol, Thomas; Lemke, Johannes R.; Platzer, Konrad; Kennedy, Joanna; Klein, Karl Martin; Au, Ping Yee Billie; Smyth, Kimberly; Kaplan, Julie; Thomas, Morgan; Dewenter, Malin K.; Dinopoulos, Argirios; Campbell, Arthur J.; Lal, Dennis; Lederer, Damien; Liao, Vivian W. Y.; Ahring, Philip K.; Moller, Rikke S.; Gardella, ElenaShareSaveDe 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, VincenzoShareSaveSystematic analysis of short tandem repeats in 38,095 exomes provides an additional diagnostic yieldGENETICS IN MEDICINE2021-08-0126OAAIvan der Sanden, Bart P. G. H.; Corominas, Jordi; de Groot, Michelle; Pennings, Maartje; Meijer, Rowdy P. P.; Verbeek, Nienke; van de Warrenburg, Bart; Schouten, Meyke; Yntema, Helger G.; Vissers, Lisenka E. L. M.; Kamsteeg, Erik-Jan; Gilissen, Christian
GENETICS IN MEDICINEIF6.2
2021-08-0126OAAIvan der Sanden, Bart P. G. H.; Corominas, Jordi; de Groot, Michelle; Pennings, Maartje; Meijer, Rowdy P. P.; Verbeek, Nienke; van de Warrenburg, Bart; Schouten, Meyke; Yntema, Helger G.; Vissers, Lisenka E. L. M.; Kamsteeg, Erik-Jan; Gilissen, ChristianShareSaveKCNT1-related epilepsies and epileptic encephalopathies: phenotypic and mutational spectrumBRAIN2021-06-1140OAAIBonardi, Claudia M.; Heyne, Henrike O.; Fiannacca, Martina; Fitzgerald, Mark P.; Gardella, Elena; Gunning, Boudewijn; Olofsson, Kern; Lesca, Gaetan; Verbeek, Nienke; Stamberger, Hannah; Striano, Pasquale; Zara, Federico; Mancardi, Maria M.; Nava, Caroline; Syrbe, Steffen; Buono, Salvatore; Baulac, Stephanie; Coppola, Antonietta; Weckhuysen, Sarah; Schoonjans, An-Sofie; Ceulemans, Berten; Sarret, Catherine; Baumgartner, Tobias; Muhle, Hiltrud; des Portes, Vincent; Toulouse, Joseph; Nougues, Marie-Christine; Rossi, Massimiliano; Demarquay, Genevieve; Ville, Dorothee; Hirsch, Edouard; Maurey, Helene; Willems, Marjolaine; de Bellescize, Julitta; Altuzarra, Cecilia Desmettre; Villeneuve, Nathalie; Bartolomei, Fabrice; Picard, Fabienne; Hornemann, Frauke; Koolen, David A.; Kroes, Hester Y.; Reale, Chiara; Fenger, Christina D.; Tan, Wen-Hann; Dibbens, Leanne; Bearden, David R.; Moller, Rikke S.; Rubboli, Guido
BRAINIF11.7
2021-06-1140OAAIBonardi, Claudia M.; Heyne, Henrike O.; Fiannacca, Martina; Fitzgerald, Mark P.; Gardella, Elena; Gunning, Boudewijn; Olofsson, Kern; Lesca, Gaetan; Verbeek, Nienke; Stamberger, Hannah; Striano, Pasquale; Zara, Federico; Mancardi, Maria M.; Nava, Caroline; Syrbe, Steffen; Buono, Salvatore; Baulac, Stephanie; Coppola, Antonietta; Weckhuysen, Sarah; Schoonjans, An-Sofie; Ceulemans, Berten; Sarret, Catherine; Baumgartner, Tobias; Muhle, Hiltrud; des Portes, Vincent; Toulouse, Joseph; Nougues, Marie-Christine; Rossi, Massimiliano; Demarquay, Genevieve; Ville, Dorothee; Hirsch, Edouard; Maurey, Helene; Willems, Marjolaine; de Bellescize, Julitta; Altuzarra, Cecilia Desmettre; Villeneuve, Nathalie; Bartolomei, Fabrice; Picard, Fabienne; Hornemann, Frauke; Koolen, David A.; Kroes, Hester Y.; Reale, Chiara; Fenger, Christina D.; Tan, Wen-Hann; Dibbens, Leanne; Bearden, David R.; Moller, Rikke S.; Rubboli, GuidoShareSaveNEXMIF encephalopathy: an X-linked disorder with male and female phenotypic patternsGENETICS IN MEDICINE2021-02-0141OAAIStamberger, Hannah; Hammer, Trine B.; Gardella, Elena; Vlaskamp, Danique R. M.; Bertelsen, Birgitte; Mandelstam, Simone; de Lange, Iris; Zhang, Jing; Myers, Candace T.; Fenger, Christina; Afawi, Zaid; Fuerte, Edith P. Almanza; Andrade, Danielle M.; Balcik, Yunus; Ben Zeev, Bruria; Bennett, Mark F.; Berkovic, Samuel F.; Isidor, Bertrand; Bouman, Arjan; Brilstra, Eva; Busk, Oyvind L.; Cairns, Anita; Caumes, Roseline; Chatron, Nicolas; Dale, Russell C.; de Geus, Christa; Edery, Patrick; Gill, Deepak; Granild-Jensen, Jacob Bie; Gunderson, Lauren; Gunning, Boudewijn; Heimer, Gali; Helle, Johan R.; Hildebrand, Michael S.; Hollingsworth, Georgie; Kharytonov, Volodymyr; Klee, Eric W.; Koeleman, Bobby P. C.; Koolen, David A.; Korff, Christian; Kury, Sebastien; Lesca, Gaetan; Lev, Dorit; Leventer, Richard J.; Mackay, Mark T.; Macke, Erica L.; McEntagart, Meriel; Mohammad, Shekeeb S.; Monin, Pauline; Montomoli, Martino; Morava, Eva; Moutton, Sebastien; Muir, Alison M.; Parrini, Elena; Procopis, Peter; Ranza, Emmanuelle; Reed, Laura; Reif, Philipp S.; Rosenow, Felix; Rossi, Massimiliano; Sadleir, Lynette G.; Sadoway, Tara; Schelhaas, Helenius J.; Schneider, Amy L.; Shah, Krati; Shalev, Ruth; Sisodiya, Sanjay M.; Smol, Thomas; Stumpel, Connie T. R. M.; Stuurman, Kyra; Symonds, Joseph D.; Mau-Them, Frederic Tran; Verbeek, Nienke; Verhoeven, Judith S.; Wallace, Geoffrey; Yosovich, Keren; Zarate, Yuri A.; Zerem, Ayelet; Zuberi, Sameer M.; Guerrini, Renzo; Mefford, Heather C.; Patel, Chirag; Zhang, Yue-Hua; Moller, Rikke S.; Scheffer, Ingrid E.
GENETICS IN MEDICINEIF6.2
2021-02-0141OAAIStamberger, Hannah; Hammer, Trine B.; Gardella, Elena; Vlaskamp, Danique R. M.; Bertelsen, Birgitte; Mandelstam, Simone; de Lange, Iris; Zhang, Jing; Myers, Candace T.; Fenger, Christina; Afawi, Zaid; Fuerte, Edith P. Almanza; Andrade, Danielle M.; Balcik, Yunus; Ben Zeev, Bruria; Bennett, Mark F.; Berkovic, Samuel F.; Isidor, Bertrand; Bouman, Arjan; Brilstra, Eva; Busk, Oyvind L.; Cairns, Anita; Caumes, Roseline; Chatron, Nicolas; Dale, Russell C.; de Geus, Christa; Edery, Patrick; Gill, Deepak; Granild-Jensen, Jacob Bie; Gunderson, Lauren; Gunning, Boudewijn; Heimer, Gali; Helle, Johan R.; Hildebrand, Michael S.; Hollingsworth, Georgie; Kharytonov, Volodymyr; Klee, Eric W.; Koeleman, Bobby P. C.; Koolen, David A.; Korff, Christian; Kury, Sebastien; Lesca, Gaetan; Lev, Dorit; Leventer, Richard J.; Mackay, Mark T.; Macke, Erica L.; McEntagart, Meriel; Mohammad, Shekeeb S.; Monin, Pauline; Montomoli, Martino; Morava, Eva; Moutton, Sebastien; Muir, Alison M.; Parrini, Elena; Procopis, Peter; Ranza, Emmanuelle; Reed, Laura; Reif, Philipp S.; Rosenow, Felix; Rossi, Massimiliano; Sadleir, Lynette G.; Sadoway, Tara; Schelhaas, Helenius J.; Schneider, Amy L.; Shah, Krati; Shalev, Ruth; Sisodiya, Sanjay M.; Smol, Thomas; Stumpel, Connie T. R. M.; Stuurman, Kyra; Symonds, Joseph D.; Mau-Them, Frederic Tran; Verbeek, Nienke; Verhoeven, Judith S.; Wallace, Geoffrey; Yosovich, Keren; Zarate, Yuri A.; Zerem, Ayelet; Zuberi, Sameer M.; Guerrini, Renzo; Mefford, Heather C.; Patel, Chirag; Zhang, Yue-Hua; Moller, Rikke S.; Scheffer, Ingrid E.ShareSaveThe phenotypic spectrum of X-linked, infantile onset ALG13-related developmental and epileptic encephalopathyEPILEPSIA2021-01-0716OAAIDatta, Alexandre N.; Bahi-Buisson, Nadia; Bienvenu, Thierry; Buerki, Sarah E.; Gardiner, Fiona; Cross, J. Helen; Heron, Benedicte; Kaminska, Anna; Korff, Christian M.; Lepine, Anne; Lesca, Gaetan; McTague, Amy; Mefford, Heather C.; Mignot, Cyrill; Milh, Matthieu; Piton, Amelie; Pressler, Ronit M.; Ruf, Susanne; Sadleir, Lynette G.; de Saint Martin, Anne; Van Gassen, Koen; Verbeek, Nienke E.; Ville, Dorothee; Villeneuve, Nathalie; Zacher, Pia; Scheffer, Ingrid E.; Lemke, Johannes R.
EPILEPSIAIF6.6
2021-01-0716OAAIDatta, Alexandre N.; Bahi-Buisson, Nadia; Bienvenu, Thierry; Buerki, Sarah E.; Gardiner, Fiona; Cross, J. Helen; Heron, Benedicte; Kaminska, Anna; Korff, Christian M.; Lepine, Anne; Lesca, Gaetan; McTague, Amy; Mefford, Heather C.; Mignot, Cyrill; Milh, Matthieu; Piton, Amelie; Pressler, Ronit M.; Ruf, Susanne; Sadleir, Lynette G.; de Saint Martin, Anne; Van Gassen, Koen; Verbeek, Nienke E.; Ville, Dorothee; Villeneuve, Nathalie; Zacher, Pia; Scheffer, Ingrid E.; Lemke, Johannes R.ShareSaveA hereditary spastic paraplegia predominant phenotype caused by variants in the NEFL gene2020-11-016OAAIMul, Karlien; Schouten, Meyke, I; van der Looij, Erica; Dooijes, Dennis; Hennekam, Frederic A. M.; Notermans, Nicolette C.; Praamstra, Peter; van Gaalen, Judith; Kamsteeg, Erik-Jan; Verbeek, Nienke E.; van de Warrenburg, Bart P. C.
2020-11-016OAAIMul, Karlien; Schouten, Meyke, I; van der Looij, Erica; Dooijes, Dennis; Hennekam, Frederic A. M.; Notermans, Nicolette C.; Praamstra, Peter; van Gaalen, Judith; Kamsteeg, Erik-Jan; Verbeek, Nienke E.; van de Warrenburg, Bart P. C.ShareSaveIQSEC2-related encephalopathy in males and females: a comparative study including 37 novel patients (vol 21, pg 837, 2019)GENETICS IN MEDICINE2019-08-013OAAIMignot, Cyril; McMahon, Aoife C.; Bar, Claire; Campeau, Philippe M.; Davidson, Claire; Buratti, Julien; Nava, Caroline; Jacquemont, Marie-Line; Tallot, Marilyn; Milh, Mathieu; Edery, Patrick; Marzin, Pauline; Barcia, Giulia; Barnerias, Christine; Besmond, Claude; Bienvenu, Thierry; Bruel, Ange-Line; Brunga, Ledia; Ceulemans, Berten; Coubes, Christine; Cristancho, Ana G.; Cunningham, Fiona; Dehouck, Marie-Bertille; Donner, Elizabeth J.; Duban-Bedu, Benedicte; Dubourg, Christele; Gardella, Elena; Gauthier, Julie; Genevieve, David; Gobin-Limballe, Stephanie; Goldberg, Ethan M.; Hagebeuk, Eveline; Hamdan, Fadi F.; Hancarova, Miroslava; Hubert, Laurence; Ioos, Christine; Ichikawa, Shoji; Janssens, Sandra; Journel, Hubert; Kaminska, Anna; Keren, Boris; Koopmans, Marije; Lacoste, Caroline; Lassuthova, Petra; Lederer, Damien; Lehalle, Daphne; Marjanovic, Dragan; Metreau, Julia; Michaud, Jacques L.; Miller, Kathryn; Minassian, Berge A.; Morales, Joannella; Moutard, Marie-Laure; Munnich, Arnold; Ortiz-Gonzalez, Xilma R.; Pinard, Jean-Marc; Prchalova, Darina; Putoux, Audrey; Quelin, Chloe; Rosen, Alyssa R.; Roume, Joelle; Rossignol, Elsa; Simon, Marleen E. H.; Smol, Thomas; Shur, Natasha; Shelihan, Ivan; Sterbova, Katalin; Vyhnalkova, Emilie; Vilain, Catheline; Soblet, Julie; Smits, Guillaume; Yang, Samuel P.; van der Smagt, Jasper J.; van Hasselt, Peter M.; van Kempen, Marjan; Weckhuysen, Sarah; Helbig, Ingo; Villard, Laurent; Heron, Delphine; Koeleman, Bobby; Moller, Rikke S.; Lesca, Gaetan; Helbig, Katherine L.; Nabbout, Rima; Verbeek, Nienke E.; Depienne, Christel
GENETICS IN MEDICINEIF6.2
2019-08-013OAAIMignot, Cyril; McMahon, Aoife C.; Bar, Claire; Campeau, Philippe M.; Davidson, Claire; Buratti, Julien; Nava, Caroline; Jacquemont, Marie-Line; Tallot, Marilyn; Milh, Mathieu; Edery, Patrick; Marzin, Pauline; Barcia, Giulia; Barnerias, Christine; Besmond, Claude; Bienvenu, Thierry; Bruel, Ange-Line; Brunga, Ledia; Ceulemans, Berten; Coubes, Christine; Cristancho, Ana G.; Cunningham, Fiona; Dehouck, Marie-Bertille; Donner, Elizabeth J.; Duban-Bedu, Benedicte; Dubourg, Christele; Gardella, Elena; Gauthier, Julie; Genevieve, David; Gobin-Limballe, Stephanie; Goldberg, Ethan M.; Hagebeuk, Eveline; Hamdan, Fadi F.; Hancarova, Miroslava; Hubert, Laurence; Ioos, Christine; Ichikawa, Shoji; Janssens, Sandra; Journel, Hubert; Kaminska, Anna; Keren, Boris; Koopmans, Marije; Lacoste, Caroline; Lassuthova, Petra; Lederer, Damien; Lehalle, Daphne; Marjanovic, Dragan; Metreau, Julia; Michaud, Jacques L.; Miller, Kathryn; Minassian, Berge A.; Morales, Joannella; Moutard, Marie-Laure; Munnich, Arnold; Ortiz-Gonzalez, Xilma R.; Pinard, Jean-Marc; Prchalova, Darina; Putoux, Audrey; Quelin, Chloe; Rosen, Alyssa R.; Roume, Joelle; Rossignol, Elsa; Simon, Marleen E. H.; Smol, Thomas; Shur, Natasha; Shelihan, Ivan; Sterbova, Katalin; Vyhnalkova, Emilie; Vilain, Catheline; Soblet, Julie; Smits, Guillaume; Yang, Samuel P.; van der Smagt, Jasper J.; van Hasselt, Peter M.; van Kempen, Marjan; Weckhuysen, Sarah; Helbig, Ingo; Villard, Laurent; Heron, Delphine; Koeleman, Bobby; Moller, Rikke S.; Lesca, Gaetan; Helbig, Katherine L.; Nabbout, Rima; Verbeek, Nienke E.; Depienne, ChristelShareSaveThe landscape of epilepsy-related GATOR1 variants (vol 21, pg 398, 2019)GENETICS IN MEDICINE2019-08-015OAAIBaldassari, Sara; Picard, Fabienne; Verbeek, Nienke E.; van Kempen, Marjan; Brilstra, Eva H.; Lesca, Gaetan; Conti, Valerio; Guerrini, Renzo; Bisulli, Francesca; Licchetta, Laura; Pippucci, Tommaso; Tinuper, Paolo; Hirsch, Edouard; de Saint Martin, Anne; Chelly, Jamel; Rudolf, Gabrielle; Chipaux, Mathilde; Ferrand-Sorbets, Sarah; Dorfmuller, Georg; Sisodiya, Sanjay; Balestrini, Simona; Schoeler, Natasha; Hernandez-Hernandez, Laura; Krithika, S.; Oegema, Renske; Hagebeuk, Eveline; Gunning, Boudewijn; Deckers, Charles; Berghuis, Bianca; Wegner, Ilse; Niks, Erik H.; Jansen, Floor E.; Braun, Kees; de Jong, Danielle; Rubboli, Guido; Talvik, Inga; Sander, Valentin; Uldall, Peter; Jacquemont, Marie-Line; Nava, Caroline; Leguern, Eric; Julia, Sophie; Gambardella, Antonio; d'Orsi, Giuseppe; Crichiutti, Giovanni; Faivre, Laurence; Darmency, Veronique; Benova, Barbora; Krsek, Pavel; Biraben, Arnaud; Lebre, Anne-Sophie; Jennesson, Melanie; Sattar, Shifteh; Marchal, Cecile; Nordli, Douglas R., Jr.; Lindstrom, Kristin; Striano, Pasquale; Lomax, Lysa Boisse; Kiss, Courtney; Bartolomei, Fabrice; Lepine, Anne Fabienne; Schoonjans, An-Sofie; Stouffs, Katrien; Jansen, Anna; Panagiotakaki, Eleni; Ricard-Mousnier, Brigitte; Thevenon, Julien; de Bellescize, Julitta; Catenoix, Helene; Dorn, Thomas; Zenker, Martin; Muller-Schluter, Karen; Brandt, Christian; Krey, Ilona; Polster, Tilman; Wolff, Markus; Balci, Meral; Rostasy, Kevin; Achaz, Guillaume; Zacher, Pia; Becher, Thomas; Cloppenborg, Thomas; Yuskaitis, Christopher J.; Weckhuysen, Sarah; Poduri, Annapurna; Lemke, Johannes R.; Moller, Rikke S.; Baulac, Stephanie
GENETICS IN MEDICINEIF6.2
2019-08-015OAAIBaldassari, Sara; Picard, Fabienne; Verbeek, Nienke E.; van Kempen, Marjan; Brilstra, Eva H.; Lesca, Gaetan; Conti, Valerio; Guerrini, Renzo; Bisulli, Francesca; Licchetta, Laura; Pippucci, Tommaso; Tinuper, Paolo; Hirsch, Edouard; de Saint Martin, Anne; Chelly, Jamel; Rudolf, Gabrielle; Chipaux, Mathilde; Ferrand-Sorbets, Sarah; Dorfmuller, Georg; Sisodiya, Sanjay; Balestrini, Simona; Schoeler, Natasha; Hernandez-Hernandez, Laura; Krithika, S.; Oegema, Renske; Hagebeuk, Eveline; Gunning, Boudewijn; Deckers, Charles; Berghuis, Bianca; Wegner, Ilse; Niks, Erik H.; Jansen, Floor E.; Braun, Kees; de Jong, Danielle; Rubboli, Guido; Talvik, Inga; Sander, Valentin; Uldall, Peter; Jacquemont, Marie-Line; Nava, Caroline; Leguern, Eric; Julia, Sophie; Gambardella, Antonio; d'Orsi, Giuseppe; Crichiutti, Giovanni; Faivre, Laurence; Darmency, Veronique; Benova, Barbora; Krsek, Pavel; Biraben, Arnaud; Lebre, Anne-Sophie; Jennesson, Melanie; Sattar, Shifteh; Marchal, Cecile; Nordli, Douglas R., Jr.; Lindstrom, Kristin; Striano, Pasquale; Lomax, Lysa Boisse; Kiss, Courtney; Bartolomei, Fabrice; Lepine, Anne Fabienne; Schoonjans, An-Sofie; Stouffs, Katrien; Jansen, Anna; Panagiotakaki, Eleni; Ricard-Mousnier, Brigitte; Thevenon, Julien; de Bellescize, Julitta; Catenoix, Helene; Dorn, Thomas; Zenker, Martin; Muller-Schluter, Karen; Brandt, Christian; Krey, Ilona; Polster, Tilman; Wolff, Markus; Balci, Meral; Rostasy, Kevin; Achaz, Guillaume; Zacher, Pia; Becher, Thomas; Cloppenborg, Thomas; Yuskaitis, Christopher J.; Weckhuysen, Sarah; Poduri, Annapurna; Lemke, Johannes R.; Moller, Rikke S.; Baulac, StephanieShareSaveTreatment Responsiveness in KCNT1-Related EpilepsyNEUROTHERAPEUTICS2019-07-0161OAAIFitzgerald, Mark P.; Fiannacca, Martina; Smith, Douglas M.; Gertler, Tracy S.; Gunning, Boudewijn; Syrbe, Steffen; Verbeek, Nienke; Stamberger, Hannah; Weckhuysen, Sarah; Ceulemans, Berten; Schoonjans, An-Sofie; Rossi, Massimiliano; Demarquay, Genevieve; Lesca, Gaetan; Olofsson, Kern; Koolen, D. A.; Hornemann, Frauke; Baulac, Stephanie; Rubboli, Guido; Minks, Kelly Q.; Lee, Bohoon; Helbig, Ingo; Dlugos, Dennis; Moller, Rikke S.; Bearden, David
NEUROTHERAPEUTICSIF6.9
2019-07-0161OAAIFitzgerald, Mark P.; Fiannacca, Martina; Smith, Douglas M.; Gertler, Tracy S.; Gunning, Boudewijn; Syrbe, Steffen; Verbeek, Nienke; Stamberger, Hannah; Weckhuysen, Sarah; Ceulemans, Berten; Schoonjans, An-Sofie; Rossi, Massimiliano; Demarquay, Genevieve; Lesca, Gaetan; Olofsson, Kern; Koolen, D. A.; Hornemann, Frauke; Baulac, Stephanie; Rubboli, Guido; Minks, Kelly Q.; Lee, Bohoon; Helbig, Ingo; Dlugos, Dennis; Moller, Rikke S.; Bearden, DavidShareSaveThe landscape of epilepsy-related GATOR1 variants (vol 21, pg 398, 2018)GENETICS IN MEDICINE2019-07-010OAAIBaldassari, Sara; Picard, Fabienne; Verbeek, Nienke E.; van Kempen, Marjan; Brilstra, Eva H.; Lesca, Gaetan; Conti, Valerio; Guerrini, Renzo; Bisulli, Francesca; Licchetta, Laura; Pippucci, Tommaso; Tinuper, Paolo; Hirsch, Edouard; de Saint Martin, Anne; Chelly, Jamel; Rudolf, Gabrielle; Chipaux, Mathilde; Ferrand-Sorbets, Sarah; Dorfmueller, Georg; Sisodiya, Sanjay; Balestrini, Simona; Schoeler, Natasha; Hernandez-Hernandez, Laura; Krithika, S.; Oegema, Renske; Hagebeuk, Eveline; Gunning, Boudewijn; Deckers, Charles; Berghuis, Bianca; Wegner, Ilse; Niks, Erik; Jansen, Floor; Braun, Kees; de Jong, Danielle; Rubboli, Guido; Talvik, Inga; Sander, Valentin; Uldall, Peter; Jacquemont, Marie-Line; Nava, Caroline; Leguern, Eric; Julia, Sophie; Gambardella, Antonio; d'Orsi, Giuseppe; Crichiutti, Giovanni; Faivre, Laurence; Darmency, Veronique; Benova, Barbora; Krsek, Pavel; Biraben, Arnaud; Lebre, Anne-Sophie; Jennesson, Melanie; Sattar, Shifteh; Marchal, Cecile; Nordli, Douglas R., Jr.; Lindstrom, Kristin; Striano, Pasquale; Lomax, Lysa Boisse; Kiss, Courtney; Bartolomei, Fabrice; Lepine, Anne Fabienne; Schoonjans, An-Sofie; Stouffs, Katrien; Jansen, Anna; Panagiotakaki, Eleni; Ricard-Mousnier, Brigitte; Thevenon, Julien; de Bellescize, Julitta; Catenoix, Helene; Dorn, Thomas; Zenker, Martin; Mueller-Schlueter, Karen; Brandt, Christian; Krey, Ilona; Polster, Tilman; Wolff, Markus; Balci, Meral; Rostasy, Kevin; Achaz, Guillaume; Zacher, Pia; Becher, Thomas; Cloppenborg, Thomas; Yuskaitis, Christopher J.; Weckhuysen, Sarah; Poduri, Annapurna; Lemke, Johannes R.; Moller, Rikke S.; Baulac, Stephanie
GENETICS IN MEDICINEIF6.2
2019-07-010OAAIBaldassari, Sara; Picard, Fabienne; Verbeek, Nienke E.; van Kempen, Marjan; Brilstra, Eva H.; Lesca, Gaetan; Conti, Valerio; Guerrini, Renzo; Bisulli, Francesca; Licchetta, Laura; Pippucci, Tommaso; Tinuper, Paolo; Hirsch, Edouard; de Saint Martin, Anne; Chelly, Jamel; Rudolf, Gabrielle; Chipaux, Mathilde; Ferrand-Sorbets, Sarah; Dorfmueller, Georg; Sisodiya, Sanjay; Balestrini, Simona; Schoeler, Natasha; Hernandez-Hernandez, Laura; Krithika, S.; Oegema, Renske; Hagebeuk, Eveline; Gunning, Boudewijn; Deckers, Charles; Berghuis, Bianca; Wegner, Ilse; Niks, Erik; Jansen, Floor; Braun, Kees; de Jong, Danielle; Rubboli, Guido; Talvik, Inga; Sander, Valentin; Uldall, Peter; Jacquemont, Marie-Line; Nava, Caroline; Leguern, Eric; Julia, Sophie; Gambardella, Antonio; d'Orsi, Giuseppe; Crichiutti, Giovanni; Faivre, Laurence; Darmency, Veronique; Benova, Barbora; Krsek, Pavel; Biraben, Arnaud; Lebre, Anne-Sophie; Jennesson, Melanie; Sattar, Shifteh; Marchal, Cecile; Nordli, Douglas R., Jr.; Lindstrom, Kristin; Striano, Pasquale; Lomax, Lysa Boisse; Kiss, Courtney; Bartolomei, Fabrice; Lepine, Anne Fabienne; Schoonjans, An-Sofie; Stouffs, Katrien; Jansen, Anna; Panagiotakaki, Eleni; Ricard-Mousnier, Brigitte; Thevenon, Julien; de Bellescize, Julitta; Catenoix, Helene; Dorn, Thomas; Zenker, Martin; Mueller-Schlueter, Karen; Brandt, Christian; Krey, Ilona; Polster, Tilman; Wolff, Markus; Balci, Meral; Rostasy, Kevin; Achaz, Guillaume; Zacher, Pia; Becher, Thomas; Cloppenborg, Thomas; Yuskaitis, Christopher J.; Weckhuysen, Sarah; Poduri, Annapurna; Lemke, Johannes R.; Moller, Rikke S.; Baulac, StephanieShareSaveResearch Directions
No research directions