.png){kind=icon}
.png){kind=icon}
Back
D
Damien Lederer
centre de génétique humaine
28H-index
93Paper Count
3.5KCitation Count
Published Papers 35
Publication Date
- Publication Date
- Impact Factor
- Citations
.png){kind=icon}
GRIN2A null variants confer a high risk for early-onset schizophrenia and other mental disorders and potentially enable precision therapy.png)
Molecular Psychiatry.png)
2025-10-14
0
OAAI
Johannes R. Lemke; Andrea Eoli; Ilona Krey; Bernt Popp; Vincent Strehlow; Dirk A. Wittekind; Anna-Leena Vuorinen; Hesham M. Aldhalaan; Sarah Baer; Anne de Saint Martin; Trine B. Hammer; Isabella Herman; Frauke Hornemann; Trine Ingebrigtsen; Damien Lederer; Gaetan Lesca; Dana Marafie; Mikael Mathot; Jill A. Rosenfeld; Rikke S. Møller; Helenius J. Schelhaas; Chelsey Stillman; Alessandro Orsini; Anup D. Patel; Juliette Piard; Pierangelo Veggiotti; Danique R. M. Vlaskamp; Sarah Weckhuysen; Stephen F. Traynelis; Tim A. Benke; Henrike O. Heyne; Steffen Syrbe
Molecular PsychiatryIF10.1
2025-10-140OAAIJohannes R. Lemke; Andrea Eoli; Ilona Krey; Bernt Popp; Vincent Strehlow; Dirk A. Wittekind; Anna-Leena Vuorinen; Hesham M. Aldhalaan; Sarah Baer; Anne de Saint Martin; Trine B. Hammer; Isabella Herman; Frauke Hornemann; Trine Ingebrigtsen; Damien Lederer; Gaetan Lesca; Dana Marafie; Mikael Mathot; Jill A. Rosenfeld; Rikke S. Møller; Helenius J. Schelhaas; Chelsey Stillman; Alessandro Orsini; Anup D. Patel; Juliette Piard; Pierangelo Veggiotti; Danique R. M. Vlaskamp; Sarah Weckhuysen; Stephen F. Traynelis; Tim A. Benke; Henrike O. Heyne; Steffen Syrbe.png){kind=icon}
Share.png){kind=icon}
SaveVideo-EEG as a precision medicine tool in vitamin-dependent epilepsy: A clinical experienceEPILEPTIC DISORDERS2025-09-010Balfroid, Tom; Vuckovic, Aline; Janssens, Melanie; Vilain, Catheline; Lederer, Damien; Empain, Aurelie; Aeby, Alec
EPILEPTIC DISORDERSIF2.7
2025-09-010PREAI
Balfroid, Tom; Vuckovic, Aline; Janssens, Melanie; Vilain, Catheline; Lederer, Damien; Empain, Aurelie; Aeby, AlecShareSaveRecurrent de novo variants in the spliceosomal factor CRNKL1 are associated with severe microcephaly and pontocerebellar hypoplasia with seizures2025-06-180Sankalita Ray Das; Rosie Sullivan; Mischa S.G. Ruegg; Julia Horsfield; Jordan Doran; Gemma Poke; Nathalie de Vries; Sarah Duerinckx; Damien Lederer; Muzhirah Haniffa; Wee-Teik Keng; Gaik-Siew Ch’ng; David A. Parry; Andrew P. Jackson; Masamune Sakamoto; Naomichi Matsumoto; Noriko Miyake; Shin Nabatame; Hidetoshi Taniguchi; Emma Wakeling; Katrin Õunap; Pilvi Ilves; Ghayda Mirzaa; Andrew Timms; Emily Pao; Kimberly A. Aldinger; William Dobyns; Axel Bohring; Beate Behre; Daniel G. Calame; James R. Lupski; Juan M. Pascual; Marc Abramowicz; Gregory Gimenez; Louise S. Bicknell
2025-06-180PREAI
Sankalita Ray Das; Rosie Sullivan; Mischa S.G. Ruegg; Julia Horsfield; Jordan Doran; Gemma Poke; Nathalie de Vries; Sarah Duerinckx; Damien Lederer; Muzhirah Haniffa; Wee-Teik Keng; Gaik-Siew Ch’ng; David A. Parry; Andrew P. Jackson; Masamune Sakamoto; Naomichi Matsumoto; Noriko Miyake; Shin Nabatame; Hidetoshi Taniguchi; Emma Wakeling; Katrin Õunap; Pilvi Ilves; Ghayda Mirzaa; Andrew Timms; Emily Pao; Kimberly A. Aldinger; William Dobyns; Axel Bohring; Beate Behre; Daniel G. Calame; James R. Lupski; Juan M. Pascual; Marc Abramowicz; Gregory Gimenez; Louise S. BicknellShareSaveBiallelic loss-of-function variants in ZNF142 are associated with a robust DNA methylation signature affecting a limited number of genomic loci2025-05-230Hildonen, Mathis; Ciolfi, Andrea; Ferilli, Marco; Cappelletti, Camilla; Al Alam, Chadi; Amor, David J.; Barakat, Tahsin Stefan; Benoit, Valerie; Birk, Ohad Shmuel; Callewaert, Bert; Cazurro-Gutierrez, Ana; De Wachter, Matthias; Doco-Fenzy, Martine; Gomez-Puertas, Paulino; Hammer, Trine Bjorg; Jamra, Rami Abou; Kaiyrzhanov, Rauan; Kameyama, Shinichi; Keren, Boris; Kresge, Christina; Krey, Ilona; Lederer, Damien; Marcos-Alcalde, Inigo; Maroofian, Reza; Matsumoto, Naomichi; Mizuguchi, Takeshi; Moey, Lip-Hen; Morgan, Angela; Munell, Francina; Platzer, Konrad; Pletcher, Beth A.; Ros-Pardo, David; Rumping, Lynne; Szakszon, Katalin; Van Schil, Kristof; Verdura, Edgard; Vogt, Julie; Wassmer, Evangeline; Zamani, Mina; Tumer, Zeynep; Tartaglia, Marco
2025-05-230PREAI
Hildonen, Mathis; Ciolfi, Andrea; Ferilli, Marco; Cappelletti, Camilla; Al Alam, Chadi; Amor, David J.; Barakat, Tahsin Stefan; Benoit, Valerie; Birk, Ohad Shmuel; Callewaert, Bert; Cazurro-Gutierrez, Ana; De Wachter, Matthias; Doco-Fenzy, Martine; Gomez-Puertas, Paulino; Hammer, Trine Bjorg; Jamra, Rami Abou; Kaiyrzhanov, Rauan; Kameyama, Shinichi; Keren, Boris; Kresge, Christina; Krey, Ilona; Lederer, Damien; Marcos-Alcalde, Inigo; Maroofian, Reza; Matsumoto, Naomichi; Mizuguchi, Takeshi; Moey, Lip-Hen; Morgan, Angela; Munell, Francina; Platzer, Konrad; Pletcher, Beth A.; Ros-Pardo, David; Rumping, Lynne; Szakszon, Katalin; Van Schil, Kristof; Verdura, Edgard; Vogt, Julie; Wassmer, Evangeline; Zamani, Mina; Tumer, Zeynep; Tartaglia, MarcoShareSaveComprehensive EHMT1 variants analysis broadens genotype-phenotype associations and molecular mechanisms in Kleefstra syndrome2024-08-018Rots, Dmitrijs; Bouman, Arianne; Yamada, Ayumi; Levy, Michael; Dingemans, Alexander J. M.; de Vries, Bert B. A.; Ruiterkamp-Versteeg, Martina; de Leeuw, Nicole; Ockeloen, Charlotte W.; Pfundt, Rolph; de Boer, Elke; Kummeling, Joost; van Bon, Bregje; van Bokhoven, Hans; Kasri, Nael Nadif; Venselaar, Hanka; Alders, Marielle; Kerkhof, Jennifer; McConkey, Haley; Kuechler, Alma; Elffers, Bart; Calkoen, Rixje van Beeck; Hofman, Susanna; Smith, Audrey; Valenzuela, Maria Irene; Srivastava, Siddharth; Frazier, Zoe; Maystadt, Isabelle; Piscopo, Carmelo; Merla, Giuseppe; Balasubramanian, Meena; Santen, Gijs W. E.; Metcalfe, Kay; Park, Soo-Mi; Pasquier, Laurent; Banka, Siddharth; Donnai, Dian; Weisberg, Daniel; Strobl-Wildemann, Gertrud; Wagemans, Annemieke; Vreeburg, Maaike; Baralle, Diana; Foulds, Nicola; Scurr, Ingrid; Brunetti-Pierri, Nicola; van Hagen, Johanna M.; Bijlsma, Emilia K.; Hakonen, Anna H.; Courage, Carolina; Genevieve, David; Pinson, Lucile; Forzano, Francesca; Deshpande, Charu; Kluskens, Maria L.; Welling, Lindsey; Plomp, Astrid S.; Vanhoutte, Els K.; Kalsner, Louisa; Hol, Janna A.; Putoux, Audrey; Lazier, Johanna; Vasudevan, Pradeep; Ames, Elizabeth; O'Shea, Jessica; Lederer, Damien; Fleischer, Julie; O'Connor, Mary; Pauly, Melissa; Vasileiou, Georgia; Reis, Andre; Kiraly-Borri, Catherine; Bouman, Arjan; Barnett, Chris; Nezarati, Marjan; Borch, Lauren; Beunders, Gea; Ozcan, Kubra; Miot, Stephanie; Volker-Touw, Catharina M. L.; van Gassen, Koen L. I.; Cappuccio, Gerarda; Janssens, Katrien; Mor, Nofar; Shomer, Inna; Dominissini, Dan; Tedder, Matthew L.; Muir, Alison M.; Sadikovic, Bekim; Brunner, Han G.; Vissers, Lisenka E. L. M.; Shinkai, Yoichi; Kleefstra, Tjitske
2024-08-018PREAI
Rots, Dmitrijs; Bouman, Arianne; Yamada, Ayumi; Levy, Michael; Dingemans, Alexander J. M.; de Vries, Bert B. A.; Ruiterkamp-Versteeg, Martina; de Leeuw, Nicole; Ockeloen, Charlotte W.; Pfundt, Rolph; de Boer, Elke; Kummeling, Joost; van Bon, Bregje; van Bokhoven, Hans; Kasri, Nael Nadif; Venselaar, Hanka; Alders, Marielle; Kerkhof, Jennifer; McConkey, Haley; Kuechler, Alma; Elffers, Bart; Calkoen, Rixje van Beeck; Hofman, Susanna; Smith, Audrey; Valenzuela, Maria Irene; Srivastava, Siddharth; Frazier, Zoe; Maystadt, Isabelle; Piscopo, Carmelo; Merla, Giuseppe; Balasubramanian, Meena; Santen, Gijs W. E.; Metcalfe, Kay; Park, Soo-Mi; Pasquier, Laurent; Banka, Siddharth; Donnai, Dian; Weisberg, Daniel; Strobl-Wildemann, Gertrud; Wagemans, Annemieke; Vreeburg, Maaike; Baralle, Diana; Foulds, Nicola; Scurr, Ingrid; Brunetti-Pierri, Nicola; van Hagen, Johanna M.; Bijlsma, Emilia K.; Hakonen, Anna H.; Courage, Carolina; Genevieve, David; Pinson, Lucile; Forzano, Francesca; Deshpande, Charu; Kluskens, Maria L.; Welling, Lindsey; Plomp, Astrid S.; Vanhoutte, Els K.; Kalsner, Louisa; Hol, Janna A.; Putoux, Audrey; Lazier, Johanna; Vasudevan, Pradeep; Ames, Elizabeth; O'Shea, Jessica; Lederer, Damien; Fleischer, Julie; O'Connor, Mary; Pauly, Melissa; Vasileiou, Georgia; Reis, Andre; Kiraly-Borri, Catherine; Bouman, Arjan; Barnett, Chris; Nezarati, Marjan; Borch, Lauren; Beunders, Gea; Ozcan, Kubra; Miot, Stephanie; Volker-Touw, Catharina M. L.; van Gassen, Koen L. I.; Cappuccio, Gerarda; Janssens, Katrien; Mor, Nofar; Shomer, Inna; Dominissini, Dan; Tedder, Matthew L.; Muir, Alison M.; Sadikovic, Bekim; Brunner, Han G.; Vissers, Lisenka E. L. M.; Shinkai, Yoichi; Kleefstra, TjitskeShareSaveARTICLE Natural history of adults with KBG syndrome: A physician-reported experienceGENETICS IN MEDICINE2024-08-010Bayat, Allan; Grimes, Hannah; de Boer, Elke; Herlin, Morten Krogh; Dahl, Rebekka Staal; Lund, Ida Charlotte Bay; Bayat, Michael; Bolund, Anneli Clea Skjelmose; Gjerulfsen, Cathrine Elisabeth; Gregersen, Pernille Axel; Zilmer, Monica; Juhl, Stefan; Cebula, Katarzyna; Rahikkala, Elisa; Maystadt, Isabelle; Peron, Angela; Vignoli, Aglaia; Alfano, Rosa Maria; Stanzial, Franco; Benedicenti, Francesco; Curro, Aurora; Luk, Ho-Ming; Jouret, Guillaume; Zurita, Ella; Heuft, Lara; Schnabel, Franziska; Busche, Andreas; Veenstra-Knol, Hermine Elisabeth; Tkemaladze, Tinatin; Vrielynck, Pascal; Lederer, Damien; Platzer, Konrad; Ockeloen, Charlotte Wilhelmina; Goel, Himanshu; Low, Karen Jaqueline
GENETICS IN MEDICINEIF6.2
2024-08-010PREAI
Bayat, Allan; Grimes, Hannah; de Boer, Elke; Herlin, Morten Krogh; Dahl, Rebekka Staal; Lund, Ida Charlotte Bay; Bayat, Michael; Bolund, Anneli Clea Skjelmose; Gjerulfsen, Cathrine Elisabeth; Gregersen, Pernille Axel; Zilmer, Monica; Juhl, Stefan; Cebula, Katarzyna; Rahikkala, Elisa; Maystadt, Isabelle; Peron, Angela; Vignoli, Aglaia; Alfano, Rosa Maria; Stanzial, Franco; Benedicenti, Francesco; Curro, Aurora; Luk, Ho-Ming; Jouret, Guillaume; Zurita, Ella; Heuft, Lara; Schnabel, Franziska; Busche, Andreas; Veenstra-Knol, Hermine Elisabeth; Tkemaladze, Tinatin; Vrielynck, Pascal; Lederer, Damien; Platzer, Konrad; Ockeloen, Charlotte Wilhelmina; Goel, Himanshu; Low, Karen JaquelineShareSaveGABRA1-Related Disorders: From Genetic to Functional PathwaysANNALS OF NEUROLOGY2023-10-207OAAIMusto, Elisa; Liao, Vivian W. Y.; Johannesen, Katrine M.; Fenger, Christina D.; Lederer, Damien; Kothur, Kavitha; Fisk, Katrina; Bennetts, Bruce; Vrielynck, Pascal; Delaby, Delphine; Ceulemans, Berten; Weckhuysen, Sarah; Sparber, Peter; Bouman, Arjan; Ardern-Holmes, Simone; Troedson, Christopher; Battaglia, Domenica I.; Goel, Himanshu; Feyma, Timothy; Bakhtiari, Somayeh; Tjoa, Linda; Boxill, Martin; Demina, Nina; Shchagina, Olga; Dadali, Elena; Kruer, Michael; Cantalupo, Gaetano; Contaldo, Ilaria; Polster, Tilman; Isidor, Bertrand; Bova, Stefania M.; Fazeli, Walid; Wouters, Leen; Miranda, Maria J.; Darra, Francesca; Pede, Elisa; Le Duc, Diana; Jamra, Rami Abou; Kury, Sebastien; Proietti, Jacopo; Mcsweeney, Niamh; Brokamp, Elly; Andrews, Peter Ian; Gouray Garcia, Marie; Chebib, Mary; Moller, Rikke S.; Ahring, Philip K.; Gardella, Elena
ANNALS OF NEUROLOGYIF7.7
2023-10-207OAAIMusto, Elisa; Liao, Vivian W. Y.; Johannesen, Katrine M.; Fenger, Christina D.; Lederer, Damien; Kothur, Kavitha; Fisk, Katrina; Bennetts, Bruce; Vrielynck, Pascal; Delaby, Delphine; Ceulemans, Berten; Weckhuysen, Sarah; Sparber, Peter; Bouman, Arjan; Ardern-Holmes, Simone; Troedson, Christopher; Battaglia, Domenica I.; Goel, Himanshu; Feyma, Timothy; Bakhtiari, Somayeh; Tjoa, Linda; Boxill, Martin; Demina, Nina; Shchagina, Olga; Dadali, Elena; Kruer, Michael; Cantalupo, Gaetano; Contaldo, Ilaria; Polster, Tilman; Isidor, Bertrand; Bova, Stefania M.; Fazeli, Walid; Wouters, Leen; Miranda, Maria J.; Darra, Francesca; Pede, Elisa; Le Duc, Diana; Jamra, Rami Abou; Kury, Sebastien; Proietti, Jacopo; Mcsweeney, Niamh; Brokamp, Elly; Andrews, Peter Ian; Gouray Garcia, Marie; Chebib, Mary; Moller, Rikke S.; Ahring, Philip K.; Gardella, ElenaShareSaveSLC6A1 variant pathogenicity, molecular function and phenotype: a genetic and clinical analysisBRAIN2023-08-304
OAAIStefanski, Arthur; Perez-Palma, Eduardo; Bruenger, Tobias; Montanucci, Ludovica; Gati, Cornelius; Kloeckner, Chiara; Johannesen, Katrine M.; Goodspeed, Kimberly; Macnee, Marie; Deng, Alexander T.; Aledo-Serrano, Angel; Borovikov, Artem; Kava, Maina; Bouman, Arjan M.; Hajianpour, M. J.; Pal, Deb K.; Engelen, Marc; Hagebeuk, Eveline E. O.; Shinawi, Marwan; Heidlebaugh, Alexis R.; Oetjens, Kathryn; Hoffman, Trevor L.; Striano, Pasquale; Freed, Amanda S.; Futtrup, Line; Balslev, Thomas; Abuli, Anna; Danvoye, Leslie; Lederer, Damien; Balci, Tugce; Nouri, Maryam Nabavi; Butler, Elizabeth; Drewes, Sarah; van Engelen, Kalene; Howell, Katherine B.; Khoury, Jean; May, Patrick; Trinidad, Marena; Froelich, Steven; Lemke, Johannes R.; Tiller, Jacob; Freed, Amber N.; Kang, Jing-Qiong; Wuster, Arthur; Moller, Rikke S.; Lal, Dennis
BRAINIF11.7
2023-08-304OAAIStefanski, Arthur; Perez-Palma, Eduardo; Bruenger, Tobias; Montanucci, Ludovica; Gati, Cornelius; Kloeckner, Chiara; Johannesen, Katrine M.; Goodspeed, Kimberly; Macnee, Marie; Deng, Alexander T.; Aledo-Serrano, Angel; Borovikov, Artem; Kava, Maina; Bouman, Arjan M.; Hajianpour, M. J.; Pal, Deb K.; Engelen, Marc; Hagebeuk, Eveline E. O.; Shinawi, Marwan; Heidlebaugh, Alexis R.; Oetjens, Kathryn; Hoffman, Trevor L.; Striano, Pasquale; Freed, Amanda S.; Futtrup, Line; Balslev, Thomas; Abuli, Anna; Danvoye, Leslie; Lederer, Damien; Balci, Tugce; Nouri, Maryam Nabavi; Butler, Elizabeth; Drewes, Sarah; van Engelen, Kalene; Howell, Katherine B.; Khoury, Jean; May, Patrick; Trinidad, Marena; Froelich, Steven; Lemke, Johannes R.; Tiller, Jacob; Freed, Amber N.; Kang, Jing-Qiong; Wuster, Arthur; Moller, Rikke S.; Lal, DennisShareSaveGermline pathogenic variants in HNRNPU are associated with alterations in blood methylome2023-07-057OAAILee, Sunwoo; Ochoa, Eguzkine; Badura-Stronka, Magdalena; Donnelly, Deirdre; Lederer, Damien; Lynch, Sally A.; Gardham, Alice; Morton, Jenny; Stewart, Helen; Docquier, France; Rodger, Fay; Martin, Ezequiel; Toribio, Ana; Maher, Eamonn R.; Balasubramanian, Meena
2023-07-057OAAILee, Sunwoo; Ochoa, Eguzkine; Badura-Stronka, Magdalena; Donnelly, Deirdre; Lederer, Damien; Lynch, Sally A.; Gardham, Alice; Morton, Jenny; Stewart, Helen; Docquier, France; Rodger, Fay; Martin, Ezequiel; Toribio, Ana; Maher, Eamonn R.; Balasubramanian, MeenaShareSaveBRAT1-related disorders: phenotypic spectrum and phenotype-genotype correlations from 97 patients2023-06-217Engel, Camille; Valence, Stephanie; Delplancq, Geoffroy; Maroofian, Reza; Accogli, Andrea; Agolini, Emanuele; Alkuraya, Fowzan S.; Baglioni, Valentina; Bagnasco, Irene; Becmeur-Lefebvre, Mathilde; Bertini, Enrico; Borggraefe, Ingo; Brischoux-Boucher, Elise; Bruel, Ange-Line; Brusco, Alfredo; Bubshait, Dalal K.; Cabrol, Christelle; Cilio, Maria Roberta; Cornet, Marie-Coralie; Coubes, Christine; Danhaive, Olivier; Delague, Valerie; Denomme-Pichon, Anne-Sophie; Di Giacomo, Marilena Carmela; Doco-Fenzy, Martine; Engels, Hartmut; Cremer, Kirsten; Gerard, Marion; Gleeson, Joseph G.; Heron, Delphine; Goffeney, Joanna; Guimier, Anne; Harms, Frederike L.; Houlden, Henry; Iacomino, Michele; Kaiyrzhanov, Rauan; Kamien, Benjamin; Karimiani, Ehsan Ghayoor; Kraus, Dror; Kuentz, Paul; Kutsche, Kerstin; Lederer, Damien; Massingham, Lauren; Mignot, Cyril; Morris-Rosendahl, Deborah; Nagarajan, Lakshmi; Odent, Sylvie; Ormieres, Clothilde; Partlow, Jennifer Neil; Pasquier, Laurent; Penney, Lynette; Philippe, Christophe; Piccolo, Gianluca; Poulton, Cathryn; Putoux, Audrey; Rio, Marlene; Rougeot, Christelle; Salpietro, Vincenzo; Scheffer, Ingrid; Schneider, Amy; Srivastava, Siddharth; Straussberg, Rachel; Striano, Pasquale; Valente, Enza Maria; Venot, Perrine; Villard, Laurent; Vitobello, Antonio; Wagner, Johanna; Wagner, Matias; Zaki, Maha S.; Zara, Federizo; Lesca, Gaetan; Yassaee, Vahid Reza; Miryounesi, Mohammad; Hashemi-Gorji, Farzad; Beiraghi, Mehran; Ashrafzadeh, Farah; Galehdari, Hamid; Walsh, Christopher; Novelli, Antonio; Tacke, Moritz; Sadykova, Dinara; Maidyrov, Yerdan; Koneev, Kairgali; Shashkin, Chingiz; Capra, Valeria; Zamani, Mina; Van Maldergem, Lionel; Burglen, Lydie; Piard, Juliette
2023-06-217PREAI
Engel, Camille; Valence, Stephanie; Delplancq, Geoffroy; Maroofian, Reza; Accogli, Andrea; Agolini, Emanuele; Alkuraya, Fowzan S.; Baglioni, Valentina; Bagnasco, Irene; Becmeur-Lefebvre, Mathilde; Bertini, Enrico; Borggraefe, Ingo; Brischoux-Boucher, Elise; Bruel, Ange-Line; Brusco, Alfredo; Bubshait, Dalal K.; Cabrol, Christelle; Cilio, Maria Roberta; Cornet, Marie-Coralie; Coubes, Christine; Danhaive, Olivier; Delague, Valerie; Denomme-Pichon, Anne-Sophie; Di Giacomo, Marilena Carmela; Doco-Fenzy, Martine; Engels, Hartmut; Cremer, Kirsten; Gerard, Marion; Gleeson, Joseph G.; Heron, Delphine; Goffeney, Joanna; Guimier, Anne; Harms, Frederike L.; Houlden, Henry; Iacomino, Michele; Kaiyrzhanov, Rauan; Kamien, Benjamin; Karimiani, Ehsan Ghayoor; Kraus, Dror; Kuentz, Paul; Kutsche, Kerstin; Lederer, Damien; Massingham, Lauren; Mignot, Cyril; Morris-Rosendahl, Deborah; Nagarajan, Lakshmi; Odent, Sylvie; Ormieres, Clothilde; Partlow, Jennifer Neil; Pasquier, Laurent; Penney, Lynette; Philippe, Christophe; Piccolo, Gianluca; Poulton, Cathryn; Putoux, Audrey; Rio, Marlene; Rougeot, Christelle; Salpietro, Vincenzo; Scheffer, Ingrid; Schneider, Amy; Srivastava, Siddharth; Straussberg, Rachel; Striano, Pasquale; Valente, Enza Maria; Venot, Perrine; Villard, Laurent; Vitobello, Antonio; Wagner, Johanna; Wagner, Matias; Zaki, Maha S.; Zara, Federizo; Lesca, Gaetan; Yassaee, Vahid Reza; Miryounesi, Mohammad; Hashemi-Gorji, Farzad; Beiraghi, Mehran; Ashrafzadeh, Farah; Galehdari, Hamid; Walsh, Christopher; Novelli, Antonio; Tacke, Moritz; Sadykova, Dinara; Maidyrov, Yerdan; Koneev, Kairgali; Shashkin, Chingiz; Capra, Valeria; Zamani, Mina; Van Maldergem, Lionel; Burglen, Lydie; Piard, JulietteShareSaveClinical and Neurophysiologic Phenotypes in Neonates With BRAT1 EncephalopathyNEUROLOGY2023-03-215OAAICarapancea, Evelina; Cornet, Marie-Coralie; Milh, Mathieu; De Cosmo, Lucrezia; Huang, Eric J.; Granata, Tiziana; Striano, Pasquale; Ceulemans, Berten; Stein, Anja; Morris-Rosendahl, Deborah; Conti, Greta; Mitra, Nipa; Raymond, F. Lucy; Rowitch, David H.; Solazzi, Roberta; Vercellino, Fabiana; De Liso, Paola; D'Onofrio, Gianluca; Boniver, Clementina; Danhaive, Olivier; Carkeek, Katherine; Salpietro, Vincenzo; Weckhuysen, Sarah; Fedrigo, Marny; Angelini, Annalisa; Castellotti, Barbara; Lederer, Damien; Benoit, Valerie; Raviglione, Federico; Guerrini, Renzo; Dilena, Robertino; Cilio, Maria Roberta
NEUROLOGYIF8.5
2023-03-215OAAICarapancea, Evelina; Cornet, Marie-Coralie; Milh, Mathieu; De Cosmo, Lucrezia; Huang, Eric J.; Granata, Tiziana; Striano, Pasquale; Ceulemans, Berten; Stein, Anja; Morris-Rosendahl, Deborah; Conti, Greta; Mitra, Nipa; Raymond, F. Lucy; Rowitch, David H.; Solazzi, Roberta; Vercellino, Fabiana; De Liso, Paola; D'Onofrio, Gianluca; Boniver, Clementina; Danhaive, Olivier; Carkeek, Katherine; Salpietro, Vincenzo; Weckhuysen, Sarah; Fedrigo, Marny; Angelini, Annalisa; Castellotti, Barbara; Lederer, Damien; Benoit, Valerie; Raviglione, Federico; Guerrini, Renzo; Dilena, Robertino; Cilio, Maria RobertaShareSaveFunctional and clinical studies reveal pathophysiological complexity of CLCN4-related neurodevelopmental conditionMOLECULAR PSYCHIATRY2022-11-1617OAAIPalmer, Elizabeth E.; Pusch, Michael; Picollo, Alessandra; Forwood, Caitlin; Nguyen, Matthew H.; Suckow, Vanessa; Gibbons, Jessica; Hoff, Alva; Sigfrid, Lisa; Megarbane, Andre; Nizon, Mathilde; Cogne, Benjamin; Beneteau, Claire; Alkuraya, Fowzan S.; Chedrawi, Aziza; Hashem, Mais O.; Stamberger, Hannah; Weckhuysen, Sarah; Vanlander, Arnaud; Ceulemans, Berten; Rajagopalan, Sulekha; Nunn, Kenneth; Arpin, Stephanie; Raynaud, Martine; Motter, Constance S.; Ward-Melver, Catherine; Janssens, Katrien; Meuwissen, Marije; Beysen, Diane; Dikow, Nicola; Grimmel, Mona; Haack, Tobias B.; Clement, Emma; McTague, Amy; Hunt, David; Townshend, Sharron; Ward, Michelle; Richards, Linda J.; Simons, Cas; Costain, Gregory; Dupuis, Lucie; Mendoza-Londono, Roberto; Dudding-Byth, Tracy; Boyle, Jackie; Saunders, Carol; Fleming, Emily; El Chehadeh, Salima; Spitz, Marie-Aude; Piton, Amelie; Gerard, Benedicte; Warde, Marie-Therese Abi; Rea, Gillian; McKenna, Caoimhe; Douzgou, Sofia; Banka, Siddharth; Akman, Cigdem; Bain, Jennifer M.; Sands, Tristan T.; Wilson, Golder N.; Silvertooth, Erin J.; Miller, Lauren; Lederer, Damien; Sachdev, Rani; Macintosh, Rebecca; Monestier, Olivier; Karadurmus, Deniz; Collins, Felicity; Carter, Melissa; Rohena, Luis; Willemsen, Marjolein H.; Ockeloen, Charlotte W.; Pfundt, Rolph; Kroft, Sanne D.; Field, Michael; Laranjeira, Francisco E. R.; Fortuna, Ana M.; Soares, Ana R.; Michaud, Vincent; Naudion, Sophie; Golla, Sailaja; Weaver, David D.; Bird, Lynne M.; Friedman, Jennifer; Clowes, Virginia; Joss, Shelagh; Polsler, Laura; Campeau, Philippe M.; Blazo, Maria; Bijlsma, Emilia K.; Rosenfeld, Jill A.; Beetz, Christian; Powis, Zoe; McWalter, Kirsty; Brandt, Tracy; Torti, Erin; Mathot, Mikael; Mohammad, Shekeeb S.; Armstrong, Ruth; Kalscheuer, Vera M.
MOLECULAR PSYCHIATRYIF10.1
2022-11-1617OAAIPalmer, Elizabeth E.; Pusch, Michael; Picollo, Alessandra; Forwood, Caitlin; Nguyen, Matthew H.; Suckow, Vanessa; Gibbons, Jessica; Hoff, Alva; Sigfrid, Lisa; Megarbane, Andre; Nizon, Mathilde; Cogne, Benjamin; Beneteau, Claire; Alkuraya, Fowzan S.; Chedrawi, Aziza; Hashem, Mais O.; Stamberger, Hannah; Weckhuysen, Sarah; Vanlander, Arnaud; Ceulemans, Berten; Rajagopalan, Sulekha; Nunn, Kenneth; Arpin, Stephanie; Raynaud, Martine; Motter, Constance S.; Ward-Melver, Catherine; Janssens, Katrien; Meuwissen, Marije; Beysen, Diane; Dikow, Nicola; Grimmel, Mona; Haack, Tobias B.; Clement, Emma; McTague, Amy; Hunt, David; Townshend, Sharron; Ward, Michelle; Richards, Linda J.; Simons, Cas; Costain, Gregory; Dupuis, Lucie; Mendoza-Londono, Roberto; Dudding-Byth, Tracy; Boyle, Jackie; Saunders, Carol; Fleming, Emily; El Chehadeh, Salima; Spitz, Marie-Aude; Piton, Amelie; Gerard, Benedicte; Warde, Marie-Therese Abi; Rea, Gillian; McKenna, Caoimhe; Douzgou, Sofia; Banka, Siddharth; Akman, Cigdem; Bain, Jennifer M.; Sands, Tristan T.; Wilson, Golder N.; Silvertooth, Erin J.; Miller, Lauren; Lederer, Damien; Sachdev, Rani; Macintosh, Rebecca; Monestier, Olivier; Karadurmus, Deniz; Collins, Felicity; Carter, Melissa; Rohena, Luis; Willemsen, Marjolein H.; Ockeloen, Charlotte W.; Pfundt, Rolph; Kroft, Sanne D.; Field, Michael; Laranjeira, Francisco E. R.; Fortuna, Ana M.; Soares, Ana R.; Michaud, Vincent; Naudion, Sophie; Golla, Sailaja; Weaver, David D.; Bird, Lynne M.; Friedman, Jennifer; Clowes, Virginia; Joss, Shelagh; Polsler, Laura; Campeau, Philippe M.; Blazo, Maria; Bijlsma, Emilia K.; Rosenfeld, Jill A.; Beetz, Christian; Powis, Zoe; McWalter, Kirsty; Brandt, Tracy; Torti, Erin; Mathot, Mikael; Mohammad, Shekeeb S.; Armstrong, Ruth; Kalscheuer, Vera M.ShareSaveNatural history of KBG syndrome in a large European cohort2022-07-2117OAAILoberti, Lorenzo; Bruno, Lucia Pia; Granata, Stefania; Doddato, Gabriella; Resciniti, Sara; Fava, Francesca; Carullo, Michele; Rahikkala, Elisa; Jouret, Guillaume; Menke, Leonie A.; Lederer, Damien; Vrielynck, Pascal; Ryba, Lukas; Brunetti-Pierri, Nicola; Lasa-Aranzasti, Amaia; Cueto-Gonzalez, Anna Maria; Trujillano, Laura; Valenzuela, Irene; Tizzano, Eduardo F.; Spinelli, Alessandro Mauro; Bruno, Irene; Curro, Aurora; Stanzial, Franco; Benedicenti, Francesco; Lopergolo, Diego; Santorelli, Filippo Maria; Aristidou, Constantia; Tanteles, George A.; Maystadt, Isabelle; Tkemaladze, Tinatin; Reimand, Tiia; Lokke, Helen; Ounap, Katrin; Haanpaa, Maria K.; Holubova, Andrea; Zoubkova, Veronika; Schwarz, Martin; Zordania, Riina; Muru, Kai; Roht, Laura; Tihverainen, Annika; Teek, Rita; Thomson, Ulvi; Isis, Atallah; Superti-Furga, Andrea; Buoni, Sabrina; Canitano, Roberto; Scandurra, Valeria; Rossetti, Annalisa; Grosso, Salvatore; Battini, Roberta; Baldassarri, Margherita; Mencarelli, Maria Antonietta; Lo Rizzo, Caterina; Bruttini, Mirella; Mari, Francesca; Ariani, Francesca; Renieri, Alessandra; Maria, Anna
2022-07-2117OAAILoberti, Lorenzo; Bruno, Lucia Pia; Granata, Stefania; Doddato, Gabriella; Resciniti, Sara; Fava, Francesca; Carullo, Michele; Rahikkala, Elisa; Jouret, Guillaume; Menke, Leonie A.; Lederer, Damien; Vrielynck, Pascal; Ryba, Lukas; Brunetti-Pierri, Nicola; Lasa-Aranzasti, Amaia; Cueto-Gonzalez, Anna Maria; Trujillano, Laura; Valenzuela, Irene; Tizzano, Eduardo F.; Spinelli, Alessandro Mauro; Bruno, Irene; Curro, Aurora; Stanzial, Franco; Benedicenti, Francesco; Lopergolo, Diego; Santorelli, Filippo Maria; Aristidou, Constantia; Tanteles, George A.; Maystadt, Isabelle; Tkemaladze, Tinatin; Reimand, Tiia; Lokke, Helen; Ounap, Katrin; Haanpaa, Maria K.; Holubova, Andrea; Zoubkova, Veronika; Schwarz, Martin; Zordania, Riina; Muru, Kai; Roht, Laura; Tihverainen, Annika; Teek, Rita; Thomson, Ulvi; Isis, Atallah; Superti-Furga, Andrea; Buoni, Sabrina; Canitano, Roberto; Scandurra, Valeria; Rossetti, Annalisa; Grosso, Salvatore; Battini, Roberta; Baldassarri, Margherita; Mencarelli, Maria Antonietta; Lo Rizzo, Caterina; Bruttini, Mirella; Mari, Francesca; Ariani, Francesca; Renieri, Alessandra; Maria, AnnaShareSaveStructural 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, ElenaShareSaveGenotype-phenotype correlations in SCN8A-related disorders reveal prognostic and therapeutic implicationsBRAIN2021-08-2577OAAIJohannesen, Katrine M.; Liu, Yuanyuan; Koko, Mahmoud; Gjerulfsen, Cathrine E.; Sonnenberg, Lukas; Schubert, Julian; Fenger, Christina D.; Eltokhi, Ahmed; Rannap, Maert; Koch, Nils A.; Lauxmann, Stephan; Krueger, Johanna; Kegele, Josua; Canafoglia, Laura; Franceschetti, Silvana; Mayer, Thomas; Rebstock, Johannes; Zacher, Pia; Ruf, Susanne; Alber, Michael; Sterbova, Katalin; Lassuthova, Petra; Vlckova, Marketa; Lemke, Johannes R.; Platzer, Konrad; Krey, Ilona; Heine, Constanze; Wieczorek, Dagmar; Kroell-Seger, Judith; Lund, Caroline; Klein, Karl Martin; Au, P. Y. Billie; Rho, Jong M.; Ho, Alice W.; Masnada, Silvia; Veggiotti, Pierangelo; Giordano, Lucio; Accorsi, Patrizia; Hoei-Hansen, Christina E.; Striano, Pasquale; Zara, Federico; Verhelst, Helene; Verhoeven, Judith S.; Braakman, Hilde M. H.; van der Zwaag, Bert; Harder, Aster V. E.; Brilstra, Eva; Pendziwiat, Manuela; Lebon, Sebastian; Vaccarezza, Maria; Ngoc Minh Le; Christensen, Jakob; Gronborg, Sabine; Scherer, Stephen W.; Howe, Jennifer; Fazeli, Walid; Howell, Katherine B.; Leventer, Richard; Stutterd, Chloe; Walsh, Sonja; Gerard, Marion; Gerard, Benedicte; Matricardi, Sara; Bonardi, Claudia M.; Sartori, Stefano; Berger, Andrea; Hoffman-Zacharska, Dorota; Mastrangelo, Massimo; Darra, Francesca; Vollo, Arve; Motazacker, M. Mahdi; Lakeman, Phillis; Nizon, Mathilde; Betzler, Cornelia; Altuzarra, Cecilia; Caume, Roseline; Roubertie, Agathe; Gelisse, Philippe; Marini, Carla; Guerrini, Renzo; Bilan, Frederic; Tibussek, Daniel; Koch-Hogrebe, Margarete; Perry, M. Scott; Ichikawa, Shoji; Dadali, Elena; Sharkov, Artem; Mishina, Irina; Abramov, Mikhail; Kanivets, Ilya; Korostelev, Sergey; Kutsev, Sergey; Wain, Karen E.; Eisenhauer, Nancy; Wagner, Monisa; Savatt, Juliann M.; Muller-Schluter, Karen; Bassan, Haim; Borovikov, Artem; Nassogne, Marie-Cecile; Destree, Anne; Schoonjans, An-Sofie; Meuwissen, Marije; Buzatu, Marga; Jansen, Anna; Scalais, Emmanuel; Srivastava, Siddharth; Tan, Wen-Hann; Olson, Heather E.; Loddenkemper, Tobias; Poduri, Annapurna; Helbig, Katherine L.; Helbig, Ingo; Fitzgerald, Mark P.; Goldberg, Ethan M.; Roser, Timo; Borggraefe, Ingo; Brunger, Tobias; May, Patrick; Lal, Dennis; Lederer, Damien; Rubboli, Guido; Heyne, Henrike O.; Lesca, Gaetan; Hedrich, Ulrike B. S.; Benda, Jan; Gardella, Elena; Lerche, Holger; Moller, Rikke S.
BRAINIF11.7
2021-08-2577OAAIJohannesen, Katrine M.; Liu, Yuanyuan; Koko, Mahmoud; Gjerulfsen, Cathrine E.; Sonnenberg, Lukas; Schubert, Julian; Fenger, Christina D.; Eltokhi, Ahmed; Rannap, Maert; Koch, Nils A.; Lauxmann, Stephan; Krueger, Johanna; Kegele, Josua; Canafoglia, Laura; Franceschetti, Silvana; Mayer, Thomas; Rebstock, Johannes; Zacher, Pia; Ruf, Susanne; Alber, Michael; Sterbova, Katalin; Lassuthova, Petra; Vlckova, Marketa; Lemke, Johannes R.; Platzer, Konrad; Krey, Ilona; Heine, Constanze; Wieczorek, Dagmar; Kroell-Seger, Judith; Lund, Caroline; Klein, Karl Martin; Au, P. Y. Billie; Rho, Jong M.; Ho, Alice W.; Masnada, Silvia; Veggiotti, Pierangelo; Giordano, Lucio; Accorsi, Patrizia; Hoei-Hansen, Christina E.; Striano, Pasquale; Zara, Federico; Verhelst, Helene; Verhoeven, Judith S.; Braakman, Hilde M. H.; van der Zwaag, Bert; Harder, Aster V. E.; Brilstra, Eva; Pendziwiat, Manuela; Lebon, Sebastian; Vaccarezza, Maria; Ngoc Minh Le; Christensen, Jakob; Gronborg, Sabine; Scherer, Stephen W.; Howe, Jennifer; Fazeli, Walid; Howell, Katherine B.; Leventer, Richard; Stutterd, Chloe; Walsh, Sonja; Gerard, Marion; Gerard, Benedicte; Matricardi, Sara; Bonardi, Claudia M.; Sartori, Stefano; Berger, Andrea; Hoffman-Zacharska, Dorota; Mastrangelo, Massimo; Darra, Francesca; Vollo, Arve; Motazacker, M. Mahdi; Lakeman, Phillis; Nizon, Mathilde; Betzler, Cornelia; Altuzarra, Cecilia; Caume, Roseline; Roubertie, Agathe; Gelisse, Philippe; Marini, Carla; Guerrini, Renzo; Bilan, Frederic; Tibussek, Daniel; Koch-Hogrebe, Margarete; Perry, M. Scott; Ichikawa, Shoji; Dadali, Elena; Sharkov, Artem; Mishina, Irina; Abramov, Mikhail; Kanivets, Ilya; Korostelev, Sergey; Kutsev, Sergey; Wain, Karen E.; Eisenhauer, Nancy; Wagner, Monisa; Savatt, Juliann M.; Muller-Schluter, Karen; Bassan, Haim; Borovikov, Artem; Nassogne, Marie-Cecile; Destree, Anne; Schoonjans, An-Sofie; Meuwissen, Marije; Buzatu, Marga; Jansen, Anna; Scalais, Emmanuel; Srivastava, Siddharth; Tan, Wen-Hann; Olson, Heather E.; Loddenkemper, Tobias; Poduri, Annapurna; Helbig, Katherine L.; Helbig, Ingo; Fitzgerald, Mark P.; Goldberg, Ethan M.; Roser, Timo; Borggraefe, Ingo; Brunger, Tobias; May, Patrick; Lal, Dennis; Lederer, Damien; Rubboli, Guido; Heyne, Henrike O.; Lesca, Gaetan; Hedrich, Ulrike B. S.; Benda, Jan; Gardella, Elena; Lerche, Holger; Moller, Rikke S.ShareSaveClinical delineation, sex differences, and genotype-phenotype correlation in pathogenic KDM6A variants causing X-linked Kabuki syndrome type 2GENETICS IN MEDICINE2021-07-0137OAAIFaundes, Victor; Goh, Stephanie; Akilapa, Rhoda; Bezuidenhout, Heidre; Bjornsson, Hans T.; Bradley, Lisa; Brady, Angela F.; Brischoux-Boucher, Elise; Brunner, Han; Bulk, Saskia; Canham, Natalie; Cody, Declan; Dentici, Maria Lisa; Digilio, Maria Cristina; Elmslie, Frances; Fry, Andrew E.; Gill, Harinder; Hurst, Jane; Johnson, Diana; Julia, Sophie; Lachlan, Katherine; Lebel, Robert Roger; Byler, Melissa; Gershon, Eric; Lemire, Edmond; Gnazzo, Maria; Lepri, Francesca Romana; Marchese, Antonia; McEntagart, Meriel; McGaughran, Julie; Mizuno, Seiji; Okamoto, Nobuhiko; Rieubland, Claudine; Rodgers, Jonathan; Sasaki, Erina; Scalais, Emmanuel; Scurr, Ingrid; Suri, Mohnish; van der Burgt, Ineke; Matsumoto, Naomichi; Miyake, Noriko; Benoit, Valerie; Lederer, Damien; Banka, Siddharth
GENETICS IN MEDICINEIF6.2
2021-07-0137OAAIFaundes, Victor; Goh, Stephanie; Akilapa, Rhoda; Bezuidenhout, Heidre; Bjornsson, Hans T.; Bradley, Lisa; Brady, Angela F.; Brischoux-Boucher, Elise; Brunner, Han; Bulk, Saskia; Canham, Natalie; Cody, Declan; Dentici, Maria Lisa; Digilio, Maria Cristina; Elmslie, Frances; Fry, Andrew E.; Gill, Harinder; Hurst, Jane; Johnson, Diana; Julia, Sophie; Lachlan, Katherine; Lebel, Robert Roger; Byler, Melissa; Gershon, Eric; Lemire, Edmond; Gnazzo, Maria; Lepri, Francesca Romana; Marchese, Antonia; McEntagart, Meriel; McGaughran, Julie; Mizuno, Seiji; Okamoto, Nobuhiko; Rieubland, Claudine; Rodgers, Jonathan; Sasaki, Erina; Scalais, Emmanuel; Scurr, Ingrid; Suri, Mohnish; van der Burgt, Ineke; Matsumoto, Naomichi; Miyake, Noriko; Benoit, Valerie; Lederer, Damien; Banka, SiddharthShareSaveNeonatal presentation of genetic epilepsies: Early differentiation from acute provoked seizuresEPILEPSIA2021-06-2148OAAICornet, Marie-Coralie; Morabito, Valeria; Lederer, Damien; Glass, Hannah C.; Santos, Susana Ferrao; Numis, Adam L.; Ferriero, Donna M.; Sands, Tristan T.; Cilio, Maria Roberta
EPILEPSIAIF6.6
2021-06-2148OAAICornet, Marie-Coralie; Morabito, Valeria; Lederer, Damien; Glass, Hannah C.; Santos, Susana Ferrao; Numis, Adam L.; Ferriero, Donna M.; Sands, Tristan T.; Cilio, Maria RobertaShareSaveOutcome of publicly funded nationwide first-tier noninvasive prenatal screeningGENETICS IN MEDICINE2021-06-0181OAAIVan den Bogaert, Kris; Lannoo, Lore; Brison, Nathalie; Gatinois, Vincent; Baetens, Machteld; Blaumeiser, Bettina; Boemer, Francois; Bourlard, Laura; Bours, Vincent; De Leener, Anne; De Rademaeker, Marjan; Desir, Julie; Dheedene, Annelies; Duquenne, Armelle; Fieremans, Nathalie; Fieuw, Annelies; Gatot, Jean-Stephane; Grisart, Bernard; Janssens, Katrien; Janssens, Sandra; Lederer, Damien; Marichal, Axel; Menten, Bjorn; Meunier, Colombine; Palmeira, Leonor; Pichon, Bruno; Sammels, Eva; Smits, Guillaume; Sznajer, Yves; Vantroys, Elise; Devriendt, Koenraad; Vermeesch, Joris Robert
GENETICS IN MEDICINEIF6.2
2021-06-0181OAAIVan den Bogaert, Kris; Lannoo, Lore; Brison, Nathalie; Gatinois, Vincent; Baetens, Machteld; Blaumeiser, Bettina; Boemer, Francois; Bourlard, Laura; Bours, Vincent; De Leener, Anne; De Rademaeker, Marjan; Desir, Julie; Dheedene, Annelies; Duquenne, Armelle; Fieremans, Nathalie; Fieuw, Annelies; Gatot, Jean-Stephane; Grisart, Bernard; Janssens, Katrien; Janssens, Sandra; Lederer, Damien; Marichal, Axel; Menten, Bjorn; Meunier, Colombine; Palmeira, Leonor; Pichon, Bruno; Sammels, Eva; Smits, Guillaume; Sznajer, Yves; Vantroys, Elise; Devriendt, Koenraad; Vermeesch, Joris RobertShareSaveHaploinsufficiency of the Sin3/HDAC corepressor complex member SIN3B causes a syndromic intellectual disability/autism spectrum disorder2021-05-0118OAAILatypova, Xenia; Vincent, Marie; Molle, Alice; Adebambo, Oluwadamilare A.; Fourgeux, Cynthia; Khan, Tahir N.; Caro, Alfonso; Rosello, Monica; Orellana, Carmen; Niyazov, Dmitriy; Lederer, Damien; Deprez, Marie; Capri, Yline; Kannu, Peter; Tabet, Anne Claude; Levy, Jonathan; Aten, Emmelien; den Hollander, Nicolette; Splitt, Miranda; Walia, Jagdeep; Immken, Ladonna L.; Stankiewicz, Pawel; McWalter, Kirsty; Suchy, Sharon; Louie, Raymond J.; Bell, Shannon; Stevenson, Roger E.; Rousseau, Justine; Willem, Catherine; Retiere, Christelle; Yang, Xiang-Jiao; Campeau, Philippe M.; Martinez, Francisco; Rosenfeld, Jill A.; Le Caignec, Cedric; Kury, Sebastien; Mercier, Sandra; Moradkhani, Kamran; Conrad, Solene; Besnard, Thomas; Cogne, Benjamin; Katsanis, Nicholas; Bezieau, Stephane; Poschmann, Jeremie; Davis, Erica E.; Isidor, Bertrand
2021-05-0118OAAILatypova, Xenia; Vincent, Marie; Molle, Alice; Adebambo, Oluwadamilare A.; Fourgeux, Cynthia; Khan, Tahir N.; Caro, Alfonso; Rosello, Monica; Orellana, Carmen; Niyazov, Dmitriy; Lederer, Damien; Deprez, Marie; Capri, Yline; Kannu, Peter; Tabet, Anne Claude; Levy, Jonathan; Aten, Emmelien; den Hollander, Nicolette; Splitt, Miranda; Walia, Jagdeep; Immken, Ladonna L.; Stankiewicz, Pawel; McWalter, Kirsty; Suchy, Sharon; Louie, Raymond J.; Bell, Shannon; Stevenson, Roger E.; Rousseau, Justine; Willem, Catherine; Retiere, Christelle; Yang, Xiang-Jiao; Campeau, Philippe M.; Martinez, Francisco; Rosenfeld, Jill A.; Le Caignec, Cedric; Kury, Sebastien; Mercier, Sandra; Moradkhani, Kamran; Conrad, Solene; Besnard, Thomas; Cogne, Benjamin; Katsanis, Nicholas; Bezieau, Stephane; Poschmann, Jeremie; Davis, Erica E.; Isidor, BertrandShareSaveGain-of-function GABRB3 variants identified in vigabatrin-hypersensitive epileptic encephalopathiesBRAIN COMMUNICATIONS2020-10-0121OAAIAbsalom, Nathan L.; Liao, Vivian W. Y.; Kothur, Kavitha; Indurthi, Dinesh C.; Bennetts, Bruce; Troedson, Christopher; Mohammad, Shekeeb S.; Gupta, Sachin; McGregor, Iain S.; Bowen, Michael T.; Lederer, Damien; Mary, Sandrine; De Waele, Liesbeth; Jansen, Katrien; Gill, Deepak; Kurian, Manju A.; McTague, Amy; Moller, Rikke S.; Ahring, Philip K.; Dale, Russell C.; Chebib, Mary
BRAIN COMMUNICATIONSIF4.5
2020-10-0121OAAIAbsalom, Nathan L.; Liao, Vivian W. Y.; Kothur, Kavitha; Indurthi, Dinesh C.; Bennetts, Bruce; Troedson, Christopher; Mohammad, Shekeeb S.; Gupta, Sachin; McGregor, Iain S.; Bowen, Michael T.; Lederer, Damien; Mary, Sandrine; De Waele, Liesbeth; Jansen, Katrien; Gill, Deepak; Kurian, Manju A.; McTague, Amy; Moller, Rikke S.; Ahring, Philip K.; Dale, Russell C.; Chebib, MaryShareSaveResearch Directions
No research directions