부산대학교 도서관

Lemke, Johannes R.; Eoli, Andrea; Krey, Ilona; Popp, Bernt; Strehlow, Vincent; Wittekind, Dirk A.; Vuorinen, Anna-Leena; Aldhalaan, Hesham M.; Baer, Sarah; de Saint Martin, Anne; Hammer, Trine B.; Herman, Isabella; Hornemann, Frauke; Ingebrigtsen, Trine; Lederer, Damien; Lesca, Gaetan; Marafie, Dana; Mathot, Mikael; Rosenfeld, Jill A.; Møller, Rikke S.; Schelhaas, Helenius J.; Stillman, Chelsey; Orsini, Alessandro; Patel, Anup D.; Piard, Juliette; Veggiotti, Pierangelo; Vlaskamp, Danique R. M.; Weckhuysen, Sarah; Traynelis, Stephen F.; Benke, Tim A.; Heyne, Henrike O.; Syrbe, Steffen

Molecular Psychiatry. 31(1):374-382

Lemke, Johannes R.; Eoli, Andrea; Krey, Ilona; Popp, Bernt; Strehlow, Vincent; Wittekind, Dirk A.; Vuorinen, Anna-Leena; Aldhalaan, Hesham M.; Baer, Sarah; de Saint Martin, Anne; Hammer, Trine B.; Herman, Isabella; Hornemann, Frauke; Ingebrigtsen, Trine; Lederer, Damien; Lesca, Gaetan; Marafie, Dana; Mathot, Mikael; Rosenfeld, Jill A.; Møller, Rikke S.; Schelhaas, Helenius J.; Stillman, Chelsey; Orsini, Alessandro; Patel, Anup D.; Piard, Juliette; Veggiotti, Pierangelo; Vlaskamp, Danique R. M.; Weckhuysen, Sarah; Traynelis, Stephen F.; Benke, Tim A.; Heyne, Henrike O.; Syrbe, Steffen

Molecular Psychiatry. 31(2):1204-1204

Hildonen, Mathis; Ciolfi, Andrea; Ferilli, Marco; Cappelletti, Camilla; Al Alam, Chadi; Amor, David J.; Barakat, Tahsin Stefan; Benoit, Valérie; Birk, Ohad Shmuel; Callewaert, Bert; Cazurro-Gutiérrez, Ana; De Wachter, Matthias; Doco-Fenzy, Martine; Gómez-Puertas, Paulino; Hammer, Trine Bjørg; Jamra, Rami Abou; Kaiyrzhanov, Rauan; Kameyama, Shinichi; Keren, Boris; Kresge, Christina; Krey, Ilona; Lederer, Damien; Marcos-Alcalde, Iñigo; 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; Tümer, Zeynep; Tartaglia, Marco

European Journal of Human Genetics. :1-8

Rossi, Alessandra; Lin, Susan X.N.; Absalom, Nathan L.; de la Rosa, Sebastian; Liao, Vivian W.Y.; Mohammadi, Nazanin A.; Viswanathan, Sindhu; Stoedberg, Tommy; Danieli, Alberto; Bonanni, Paolo; Aeby, Alec; Orsini, Alessandro; Bonuccelli, Alice; Rueegger, Andrea; Giraldez, Beatriz G.; Isidor, Bertrand; Stueve, Burkhard; Marini, Carla; Cesaroni, Elisabetta; Fenger, Christina D.; Philippe, Christophe; Meunier, Colombine; Lederer, Damien; Moortgat, Stephanie; Spinelli, Egidio; Fallica, Elisa; Zeiner, Fiona; Bauman, Matthias; Licchetta, Laura; Bisulli, Francesca; Operto, Francesca F.; Benkel-Herrenbrueck, Ira; Gorman, Kathleen M.; Johannesen, Katrine M.; Platzer, Konrad; Schnabel, Franziska; Lagae, Lieven; Laufs, Mirjam; Zordania, Riina; Malone, Stephen; Messana, Tullio; Werckx, Wendy; Jonsson, Charlotta; Afawi, Zaid; Foiadelli, Thomas; Halleb, Yosra; Stoeva, Radka; Jennesson-Lyver, Melanie; Lesca, Gaetan; Guerrini, Renzo; Berkovic, Samuel F.; Scheffer, Ingrid E.; Chebib, Mary; Gardella, Elena; Moller, Rikke S.; Rubboli, Guido; Ahring, Philip K.

Neurology
Rossi, A, Lin, S X N, Absalom, N L, la Rosa, S O-D, Liao, V W Y, Mohammadi, N A, Viswanathan, S, Stödberg, T, Danieli, A, Bonanni, P, Aeby, A, Orsini, A, Bonuccelli, A, Rüegger, A, Giraldez, B G, Isidor, B, Stüve, B, Marini, C, Cesaroni, E, Fenger, C D, Philippe, C, Meunier, C, Lederer, D, Moortgat, S, Spinelli, E, Fallica, E, Zeiner, F, Bauman, M, Licchetta, L, Bisulli, F, Operto, F F, Benkel-Herrenbrueck, I, Gorman, K M, Johannesen, K M, Platzer, K, Schnabel, F, Lagae, L, Laufs, M, Zordania, R, Malone, S, Messana, T, Werckx, W, Jonsson, C, Afawi, Z, Foiadelli, T, Halleb, Y, Stoeva, R, Jennesson-Lyver, M, Lesca, G, Guerrini, R, Berkovic, S F, Scheffer, I E, Chebib, M, Gardella, E, Møller, R S, Rubboli, G & Ahring, P K 2025, ' Phenotypic Spectrum in Individuals With Pathogenic GABRG2 Loss-and Gain-of-Function Variants ', Neurology, vol. 105, no. 2, e213644 . https://doi.org/10.1212/WNL.0000000000213644

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

Rots, D, Bouman, A, Yamada, A, Levy, M, Dingemans, A J M, de Vries, B B A, Ruiterkamp-Versteeg, M, de Leeuw, N, Ockeloen, C W, Pfundt, R, de Boer, E, Kummeling, J, van Bon, B, van Bokhoven, H, Kasri, N N, Venselaar, H, Alders, M, Kerkhof, J, McConkey, H, Kuechler, A, Elffers, B, van Beeck Calkoen, R, Hofman, S, Smith, A, Valenzuela, M I, Srivastava, S, Frazier, Z, Maystadt, I, Piscopo, C, Merla, G, Balasubramanian, M, Santen, G W E, Metcalfe, K, Park, S-M, Pasquier, L, Banka, S, Donnai, D, Weisberg, D, Strobl-Wildemann, G, Wagemans, A, Vreeburg, M, Baralle, D, Foulds, N, Scurr, I, Brunetti-Pierri, N, van Hagen, J M, Bijlsma, E K, Hakonen, A H, Courage, C, Genevieve, D, Pinson, L, Forzano, F, Deshpande, C, Kluskens, M L, Welling, L, Plomp, A S, Vanhoutte, E K, Kalsner, L, Hol, J A, Putoux, A, Lazier, J, Vasudevan, P, Ames, E, O'Shea, J, Lederer, D, Fleischer, J, O'Connor, M, Pauly, M, Vasileiou, G, Reis, A, Kiraly-Borri, C, Bouman, A, Barnett, C, Nezarati, M, Borch, L, Beunders, G, Özcan, K B, Miot, S, Volker-Touw, C M L, van Gassen, K L I, Cappuccio, G, Janssens, K, Mor, N, Shomer, I, Dominissini, D, Tedder, M L, Muir, A M, Sadikovic, B, Brunner, H G, Vissers, L E L M, Shinkai, Y & Kleefstra, T 2024, 'Comprehensive EHMT1 variants analysis broadens genotype-phenotype associations and molecular mechanisms in Kleefstra syndrome', American journal of human genetics, vol. 111, no. 8, pp. 1605-1625. https://doi.org/10.1016/j.ajhg.2024.06.008
American Journal of Human Genetics, 111, 8, pp. 1605-1625
The American journal of human genetics
Rots, D, Bouman, A, Yamada, A, Levy, M, Dingemans, A J M, de Vries, B B A, Ruiterkamp-Versteeg, M, de Leeuw, N, Ockeloen, C W, Pfundt, R, de Boer, E, Kummeling, J, van Bon, B, van Bokhoven, H, Kasri, N N, Venselaar, H, Alders, M, Kerkhof, J, McConkey, H, Kuechler, A, Elffers, B, van Beeck Calkoen, R, Hofman, S, Valenzuela, M I, Srivastava, S, Frazier, Z, Maystadt, I, Piscopo, C, Merla, G, Balasubramanian, M, Santen, G W E, Metcalfe, K, Park, S-M, Pasquier, L, Banka, S, Donnai, D, Weisberg, D, Strobl-Wildemann, G, Wagemans, A, Vreeburg, M, Baralle, D, Foulds, N, Scurr, I, Brunetti-Pierri, N, van Hagen, J M, Bijlsma, E K, Hakonen, A H, Courage, C, Genevieve, D, Pinson, L, Forzano, F, Deshpande, C, Kluskens, M L, Welling, L, Plomp, A S, Vanhoutte, E K, Kalsner, L, Hol, J A, Putoux, A, Lazier, J, Vasudevan, P, Ames, E, O'Shea, J, Lederer, D, Fleischer, J, Pauly, M, Vasileiou, G, Reis, A, Kiraly-Borri, C, Bouman, A, Barnett, C, Nezarati, M, Borch, L, Beunders, G, Özcan, K, Miot, S, Volker-Touw, C M L, van Gassen, K L I, Cappuccio, G, Janssens, K, Mor, N, Shomer, I, Dominissini, D, Tedder, M L, Sadikovic, B, Brunner, H G, Vissers, L E L M, Shinkai, Y & Kleefstra, T 2024, 'Comprehensive EHMT1 variants analysis broadens genotype-phenotype associations and molecular mechanisms in Kleefstra syndrome', American Journal of Human Genetics, vol. 111, no. 8, pp. 1605-1625. https://doi.org/10.1016/j.ajhg.2024.06.008

Zaffaroni, Alberto; Coffey, Sam; Dodd, Stephen; Kilroy, Hannah; Lyon, Graeme; O'Rourke, Damien; Lederer, Katharina; Fietze, Ingo; Penzel, Thomas

2019 41st Annual International Conference of the IEEE Engineering in Medicine and Biology Society (EMBC) Engineering in Medicine and Biology Society (EMBC), 2019 41st Annual International Conference of the IEEE. :2230-2233 Jul, 2019

Jackson, Adam; Verloes, Alain; Corvo, Alberto; Ferlini, Alessandra; Costa, Alessia; Hoischen, Alexander; Durr, Alexandra; Krebsová, Alice; Metcalfe, Alison; Rath, Ana; Töpf, Ana; Papakonstantinou, Anastasios; Traschütz, Andreas; Bruel, Ange-Line; Codina, Anna Esteve; Heinzmann, Anna; Sommer, Anna Katharina; Sarkozy, Anna; Torella, Annalaura; Denommé-Pichon, Anne-Sophie; Brookes, Anthony J.; Atalaia, Antonio; Vitobello, Antonio; Resch, Baptist; van de Warrenburg, Bart; van der Sanden, Bart; Zurek, Birte; Keren, Boris; Eymard, Bruno; Yaldiz, Burcu; Oliveira, Carla; Hernández, Carles; Wilke, Carlo; Lucano, Caterina; José, Celina São; Millevert, Charissa; Bettolo, Chiara Marini; Thauvin, Christel; Boßelmann, Christian; Gilissen, Christian; Davoine, Claire-Sophie; Thomas, Coline; Metay, Corinne; Mignot, Cyril; Thomasová, Dana; Danis, Daniel; Picó, Daniel; Beijer, Danique; Lagorce, David; Ruvolo, David; Piscia, Davide; Sukumaran, Deepthi; Heron, Delphine; Roelofs-Prins, Dieuwke; Spalding, Dylan; Cali, Elisa; Alexander, Elizabeth; de Boer, Elke; Raineri, Emanuele; Lebreton, Emeline; Cohen, Enzo; Janssen, Erik; Kamsteeg, Erik-Jan; Zonneveld-Huijssoon, Eveline; Carneiro, Fátima; Gualandi, Francesca; Magrinelli, Francesca; Muntoni, Francesco; de Vries, Geert; Bullich, Gemma; van der Vries, Gerben; Demidov, German; Stevanin, Giovanni; Bonne, Gisèle; Coarelli, Giulia; Piluso, Giulio; Robert, Glenn; Warren, Greg; Gumus, Gulcin; Brunner, Han; Stamberger, Hannah; Scheffer, Hans; Morsy, Heba; Parkinson, Helen; Houlden, Henry; Hengel, Holger; Lerche, Holger; Graessner, Holm; Paramonov, Ida; Kolen, Ingrid; Gullo, Irene; Zaharieva, Irina; Paske, Iris te; Spier, Isabel; Nelson, Isabelle; Gut, Ivo Glynne; Vandrovcova, Jana; Agathe, Jean-Madeleine de Sainte; Clayton-Smith, Jill; Xu, Jishu; van der Velde, Joeri K.; Baets, Jonathan; De Winter, Jonathan; Rohrer, Jonathan; Park, Joohyun; Manera, Jordi Diaz; Garcia-Pelaez, Jose; Kegele, Josua; Schulze-Hentrich, Julia M.; Müller, Juliane; Engelhardt, Karin; Sablauskas, Karolis; Ellwanger, Kornelia; Neveling, Kornelia; Abbott, Kristin M.; Faivre, Laurence; Guillot-Noel, Léna; Johansson, Lennart; Schütz, Leon; Matalonga, Leslie; Van de Vondel, Liedewei; Vissers, Lisenka E.L.M.; Schöls, Ludger; Ryba, Lukáš; Perry, Luke; Garrido, Luzia; Sagath, Lydia; Freeberg, Mallory; Morleo, Manuela; Dabad, Marc; Hanauer, Marc; Sturm, Marc; Neri, Marcella; Fernandez-Callejo, Marcos; Turnovec, Marek; Zanobio, Mariateresa; van Gijn, Marielle; Havlovicová, Markéta; Steehouwer, Marloes; Chahdil, Maroua; Ferreira, Marta; Gut, Marta; Reilly, Mary; Synofzik, Matthis; Kellner, Melanie; Pinelli, Michele; Hanna, Mike; Macek, Milan, Jr.; Swertz, Morris A.; Hoogerbrugge, Nicoline; van Os, Nienke; Smal, Noor; Riess, Olaf; Hongnat, Oscar; Moloney, Patrick; Doležalová, Pavla; Ferreira, Pedro; ’t Hoen, Peter A.C.; de Jonghe, Peter; Heutink, Peter; Robinson, Peter; Lišková, Petra; Neerincx, Pieter B.; Ben Yaou, Rabah; Kremliková, Radka Pourová; Bellampalli, Ravishankara; Schüle, Rebecca; Moore, Richard; de Voer, Richarda M.; Barbosa-Matos, Rita; Selvatici, Rita; Lauerer-Braun, Robert; Zeuli, Roberta; Abadijou, Sadegh; Nalagandla, Sai Anuhya; Banfi, Sandro; Sisodiya, Sanjay M.; Weckhuysen, Sarah; Köhler, Sebastian; Beltran, Sergi; Drunat, Séverine; Banka, Siddharth; Peters, Sophia; Hambleton, Sophie; Gibson, Spencer; Aretz, Stefan; Bigoni, Stefania; Lauxmann, Stephan; Ossowski, Stephan; Efthymiou, Stephanie; Laurie, Steven; Fernandes, Susana; Stojkovic, Tanya; Evangelista, Teresinha; Keane, Thomas; Kleefstra, Tjitske; Haack, Tobias B.; Riaz, Umar; Allamand, Valérie; Franková, Vera; Pini, Veronica; Couturier, Victor; Timmerman, Vincent; Nigro, Vincenzo; Bros-Facer, Virginie; Straub, Volker; Kerstjens Frederikse, Wilhemina S.; De Ridder, Willem; Steyaert, Wouter; Duffourd, Yannis; Wang, Yunze Patrick; Maver, Ales; Renieri, Alessandra; Münchau, Alexander; Macaya, Alfons; Cazurro-Gutiérrez, Ana; Ciolfi, Andrea; Laner, Andreas; Roos, Andreas; Rump, Andreas; Garcia de Oteyza, Andrés Caballero; Osorio, Andrés Nascimento; Marcé-Grau, Anna; Destrée, Anne; Riva, Antonella; Evangeliou, Athanasios; Trimouille, Aurelien; Başak, Ayşe Nazlı; Dermaut, Bart; Delgado, Beatriz Martínez; Pérez-Dueñas, Belén; Estevez, Berta; Udd, Bjarne; Grimbacher, Bodo; Peterlin, Borut; Poppe, Bruce; Wirth, Brunhilde; Dallapiccola, Bruno; Rooryck, Caroline; Olimpio, Catarina; Depondt, Chantal; Fallerini, Chiara; Depienne, Christel; Korff, Christian; Mertes, Christian; Ruivenkamp, Claudia A.L.; Meunier, Colombine; Lederer, Damien; Natera de Benito, Daniel; Beeson, David; Webb, David; Mei, Davide; Karadurmus, Deniz; Lacombe, Didier; Hemelsoet, Dimitri; Parrini, Elena; Kapaki, Elisabeth; Bogaert, Elke; Holinski-Feder, Elke; Leitão, Elsa; Bijlsma, Emilia K.; Van Nieuwenhove, Erika; Martín, Estrella López; Sánchez, Eva Bermejo; Bouveret, Eva Hammar; Schröck, Evelin; Carpancea, Evelina; Kokosali, Evgenia; Zara, Federico; Privitera, Flavia; Radio, Francesca Clementina; Munell, Francina; Alonso García de la Rosa, Francisco Javier; Masclaux, Frédéric; Capella, Gabriel; Cavalleri, Gianpiero; Santen, Gijs W.E.; Ghani, Hamidah; Verdin, Hannah; Lochmüller, Hanns; Leavis, Helen; Zaganas, Ioannis; Cordts, Isabell; Maystadt, Isabelle; van Montfrans, Joris; Cossins, Judith; Desir, Julie; Gagneur, Julien; Boztug, Kaan; Dahan, Karin; Benson, Katherine; Schon, Katherine; Lohmann, Katja; Polavarapu, Kiran; Platzer, Konrad; Zguro, Kristina; Claeys, Kristl; Mathioudakis, Lambros; van der Veken, Lars; Masó, Laura Batlle; Valle, Laura; Krass, Leon; Huibers, Manon; De la Paz, Manuel Posada; Bourbouli, Mara; Abramowicz, Marc; Scala, Marcello; Ferilli, Marco; Savarese, Marco; Tartaglia, Marco; Deschauer, Marcus; Molnar, Maria Judit; Cilio, Maria-Roberta; Greally, Marie; Hoffer, Mariette J.V.; Spilioti, Martha; Pauly, Martje; O'Reghan, Mary; Haimel, Matthias; Karakaya, Mert; Iacomino, Michele; Drakos, Minas; Johari, Mridul; Allen, Nicholas; Schuermans, Nika; Delanty, Norman; Monestier, Olivier; Kiliçarslan, Özge Aksel; Scudieri, Paolo; Uva, Paolo; Striano, Pasquale; Chinnery, Patrick F.; May, Patrick; Balicza, Peter; Hackman, Peter; Thompson, Rachel; Jamra, Rami Abou; Herzog, Rebecca; Luknárová, Rebeka; Guerrini, Renzo; Horvath, Rita; Colobran, Roger; van Heurck, Roxane; Mary, Sandrine; Duerinckx, Sarah; Balestrini, Simona; Furini, Simone; Malaichamy, Sivasankar; Moortgat, Stéphanie; Byrne, Susan; Brohée, Sylvain; Ratnaike, Thiloka; Bartolomaeus, Tobias; Benoit, Valerie; Steinke-Lange, Verena; Yépez, Vicente A.; Sznajer, Yves; Di Feo, Maria Francesca ; Matalonga Borrel, Leslie ; Vissers, Lisenka ; de Voer, Richarda ; Lesca, Gaëtan ; Gayathri, Swethaa Natraj ; Cossee, Mireille ; Perrin, Aurelien ; Bonne, Gisele ; Verdonschot, Job A.J.

In Genetics in Medicine November 2025

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 Axél ; Zilmer, Monica ; Juhl, Stefan ; Cebula, Katarzyna ; Rahikkala, Elisa ; Maystadt, Isabelle ; Peron, Angela ; Vignoli, Aglaia ; Alfano, Rosa Maria ; Stanzial, Franco ; Benedicenti, Francesco ; Currò, 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

In Genetics in Medicine August 2024 26(8)

Loberti, 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, Lukáš; Brunetti-Pierri, Nicola; Lasa-Aranzasti, Amaia; Cueto-González, Anna Maria; Trujillano, Laura; Valenzuela, Irene; Tizzano, Eduardo F; Spinelli, Alessandro Mauro; Bruno, Irene; Currò, Aurora; Stanzial, Franco; Benedicenti, Francesco; Lopergolo, Diego; Santorelli, Filippo Maria; Aristidou, Constantia; Tanteles, George A; Maystadt, Isabelle; Tkemaladze, Tinatin; Reimand, Tiia; Lokke, Helen; Õunap, Katrin; Haanpää, Maria K; Holubová, Andrea; Zoubková, Veronika; Schwarz, Martin; Žordania, Riina; Muru, Kai; Roht, Laura; Tihveräinen, 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; Rizzo, Caterina Lo; Bruttini, Mirella; Mari, Francesca; Ariani, Francesca; Renieri, Alessandra; Pinto, Anna Maria

Hum Mol Genet
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Human molecular genetics, Vol. 31, no.24, p. 4131-4142 (2022)
Human molecular genetics, vol. 31, no. 24, pp. 4131-4142

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In Genetics in Medicine April 2023 25(4)

Timothy Bergquist; Johanna Loomba; Emily Pfaff; Fangfang Xia; Zixuan Zhao; Yitan Zhu; Elliot Mitchell; Biplab Bhattacharya; Gaurav Shetty; Tamanna Munia; Grant Delong; Adbul Tariq; Zachary Butzin-Dozier; Yunwen Ji; Haodong Li; Jeremy Coyle; Seraphina Shi; Rachael V. Philips; Andrew Mertens; Romain Pirracchio; Mark van der Laan; John M. 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Hayanga; Brian Hendricks; Wenndy Hernandez; Elaine Hill; William Hillegass; Stephanie Hong; Dan Housman; Robert Hurley; Jessica Islam; Randeep Jawa; Steve Johnson; Rishi Kamaleswaran; Warren Kibbe; Farrukh Koraishy; Kristin Kostka; Michael Kurilla; Adam Lee; Harold Lehmann; Hongfang Liu; Charisse Madlock-Brown; Sandeep Mallipattu; Amin Manna; Federico Mariona; Emily Marti; Greg Martin; Jomol Mathew; Diego Mazzotti; Julie McMurry; Hemalkumar Mehta; Sam Michael; Robert Miller; Leonie Misquitta; Richard Moffitt; Michele Morris; Kimberly Murray; Lavance Northington; Shawn O’Neil; Amy Olex; Matvey Palchuk; Brijesh Patel; Rena Patel; Philip Payne; Jami Pincavitch; Lili Portilla; Fred Prior; Saiju Pyarajan; Lee Pyles; Nabeel Qureshi; Peter Robinson; Joni Rutter; Ofer Sadan; Nasia Safdar; Amit Saha; Joel Saltz; Mary Saltz; Clare Schmitt; Soko Setoguchi; Noha Sharafeldin; Anjali Sharathkumar; Usman Sheikh; Hythem Sidky; George Sokos; Andrew Southerland; Heidi Spratt; Justin Starren; Vignesh Subbian; Christine Suver; Cliff Takemoto; Meredith Temple-O'Connor; Umit Topaloglu; Satyanarayana Vedula; Anita Walden; Kellie Walters; Cavin Ward-Caviness; Adam Wilcox; Ken Wilkins; Andrew Williams; Chunlei Wu; Elizabeth Zampino; Xiaohan Zhang; Richard Zhu

EBioMedicine, Vol 108, Iss , Pp 105333- (2024)

Balfroid, Tom; Vuckovic, Aline; Janssens, Melanie; Vilain, Catheline; Lederer, Damien; Empain, Aurelie; Aeby, Alec

EPILEPTIC DISORDERS; SEP 3 2025, 5p.

Lee, 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

European Journal of Human Genetics. 31(9):1040-1047

Engel, Camille; Valence, Stéphanie; 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, Valérie; Denommé-Pichon, Anne-Sophie; Di Giacomo, Marilena Carmela; Doco-Fenzy, Martine; Engels, Hartmut; Cremer, Kirsten; Gérard, 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, Déborah; Nagarajan, Lakshmi; Odent, Sylvie; Ormières, Clothilde; Partlow, Jennifer Neil; Pasquier, Laurent; Penney, Lynette; Philippe, Christophe; Piccolo, Gianluca; Poulton, Cathryn; Putoux, Audrey; Rio, Marlène; 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

European Journal of Human Genetics. 31(9):1023-1031

Lehalle, Daphné; Bruel, Ange‐line; Vitobello, Antonio; Denommé‐pichon, Anne‐sophie; Duffourd, Yannis; Assoum, Mirna; Amiel, Jeanne; Baujat, Geneviève; Bessieres, Bettina; Bigoni, Stefania; Burglen, Lydie; Captier, Guillaume; Dard, Rodolphe; Edery, Patrick; Fortunato, Fernanda; Geneviève, David; Goldenberg, Alice; Guibaud, Laurent; Héron, Delphine; Holder-Espinasse, Muriel; Lederer, Damien; Lopez Grondona, Fermina; Grotto, Sarah; Marlin, Sandrine; Nadeau, Gwenaël; Picard, Arnaud; Rossi, Massimiliano; Roume, Joëlle; Sanlaville, Damien; Saugier-Veber, Pascale; Triau, Stéphane; Valenzuela Palafoll, Maria Irene; Vanlerberghe, Clémence; Van Maldergem, Lionel; Vezain, Myriam; Vincent-Delorme, Catherine; Zivi, Einat; Thevenon, Julien; Vabres, Pierre; Thauvin-Robinet, Christel; Callier, Patrick; Faivre, Laurence

American Journal of Medical Genetics Part A. 188:2036-2047

Johannesen, 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; Krüger, Johanna; Kegele, Josua; Canafoglia, Laura; Franceschetti, Silvana; Mayer, Thomas; Rebstock, Johannes; Zacher, Pia; Ruf, Susanne; Alber, Michael; Sterbova, Katalin; Lassuthová, 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; Le, Ngoc Minh; Christensen, Jakob; Grønborg, Sabine; Scherer, Stephen W; Howe, Jennifer; Fazeli, Walid; Howell, Katherine B; Leventer, Richard; Stutterd, Chloe; Walsh, Sonja; Gerard, Marion; Gerard, Bénédicte; Matricardi, Sara; Bonardi, Claudia M; Sartori, Stefano; Berger, Andrea; Hoffman-Zacharska, Dorota; Mastrangelo, Massimo; Darra, Francesca; Vøllo, Arve; Motazacker, M Mahdi; Lakeman, Phillis; Nizon, Mathilde; Betzler, Cornelia; Altuzarra, Cecilia; Caume, Roseline; Roubertie, Agathe; Gélisse, 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; Müller-Schlüter, Karen; Bassan, Haim; Borovikov, Artem; Nassogne, Marie Cecile; Destrée, 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; Brünger, Tobias; May, Patrick; Lal, Dennis; Lederer, Damien; Rubboli, Guido; Heyne, Henrike O; Lesca, Gaetan; Hedrich, Ulrike B S; Benda, Jan; Gardella, Elena; Lerche, Holger; Møller, Rikke S

Johannesen, K M, Liu, Y, Koko, M, Gjerulfsen, C E, Sonnenberg, L, Schubert, J, Fenger, C D, Eltokhi, A, Rannap, M, Koch, N A, Lauxmann, S, Krüger, J, Kegele, J, Canafoglia, L, Franceschetti, S, Mayer, T, Rebstock, J, Zacher, P, Ruf, S, Alber, M, Sterbova, K, Lassuthová, P, Vlckova, M, Lemke, J R, Platzer, K, Krey, I, Heine, C, Wieczorek, D, Kroell-Seger, J, Lund, C, Klein, K M, Au, P Y B, Rho, J M, Ho, A W, Masnada, S, Veggiotti, P, Giordano, L, Accorsi, P, Hoei-Hansen, C E, Striano, P, Zara, F, Verhelst, H, Verhoeven, J S, Braakman, H M H, van der Zwaag, B, Harder, A V E, Brilstra, E, Pendziwiat, M, Lebon, S, Vaccarezza, M, le, N M, Christensen, J, Grønborg, S, Scherer, S W, Howe, J, Fazeli, W, Howell, K B, Leventer, R, Stutterd, C, Walsh, S, Gerard, M, Gerard, B N, Matricardi, S, Bonardi, C M, Sartori, S, Berger, A, Hoffman-Zacharska, D, Mastrangelo, M, Darra, F, Vøllo, A, Motazacker, M M, Lakeman, P, Nizon, M, Betzler, C, Altuzarra, C, Caume, R, Roubertie, A, Gélisse, P, Marini, C, Guerrini, R, Bilan, F, Tibussek, D, Koch-Hogrebe, M, Perry, M S, Ichikawa, S, Dadali, E, Sharkov, A, Mishina, I, Abramov, M, Kanivets, I, Korostelev, S, Kutsev, S, Wain, K E, Eisenhauer, N, Wagner, M, Savatt, J M, Müller-Schlüter, K, Bassan, H, Borovikov, A, Nassogne, M C, Destrée, A, Schoonjans, A S, Meuwissen, M, Buzatu, M, Jansen, A, Scalais, E, Srivastava, S, Tan, W H, Olson, H E, Loddenkemper, T, Poduri, A, Helbig, K L, Helbig, I, Fitzgerald, M P, Goldberg, E M, Roser, T, Borggraefe, I, Brünger, T, May, P, Lal, D, Lederer, D, Rubboli, G, Heyne, H O, Lesca, G, Hedrich, U B S, Benda, J, Gardella, E, Lerche, H & Møller, R S 2022, 'Genotype-phenotype correlations in SCN8A-related disorders reveal prognostic and therapeutic implications', Brain, vol. 145, no. 9, pp. 2991-3009. https://doi.org/10.1093/brain/awab321
Brain, Vol. 145, no.9, p. 2991-3009 (2022)
Brain
Johannesen, K M, Liu, Y, Koko, M, Gjerulfsen, C E, Sonnenberg, L, Schubert, J, Fenger, C D, Eltokhi, A, Rannap, M, Koch, N A, Lauxmann, S, Krüger, J, Kegele, J, Canafoglia, L, Franceschetti, S, Mayer, T, Rebstock, J, Zacher, P, Ruf, S, Alber, M, Sterbova, K, Lassuthová, P, Vlckova, M, Lemke, J R, Platzer, K, Krey, I, Heine, C, Wieczorek, D, Kroell-Seger, J, Lund, C, Klein, K M, Au, P Y B, Rho, J M, Ho, A W, Masnada, S, Veggiotti, P, Giordano, L, Accorsi, P, Hoei-Hansen, C E, Striano, P, Zara, F, Verhelst, H, Verhoeven, J S, Braakman, H M H, van der Zwaag, B, Harder, A V E, Brilstra, E, Pendziwiat, M, Lebon, S, Vaccarezza, M, Le, N M, Christensen, J, Grønborg, S, Scherer, S W, Howe, J, Fazeli, W, Howell, K B, Leventer, R, Stutterd, C, Walsh, S, Gerard, M, Gerard, B, Matricardi, S, Bonardi, C M, Sartori, S, Berger, A, Hoffman-Zacharska, D, Mastrangelo, M, Darra, F, Vøllo, A, Motazacker, M M, Lakeman, P, Nizon, M, Betzler, C, Altuzarra, C, Caume, R, Roubertie, A, Gélisse, P, Marini, C, Guerrini, R, Bilan, F, Tibussek, D, Koch-Hogrebe, M, Perry, M S, Ichikawa, S, Dadali, E, Sharkov, A, Mishina, I, Abramov, M, Kanivets, I, Korostelev, S, Kutsev, S, Wain, K E, Eisenhauer, N, Wagner, M, Savatt, J M, Müller-Schlüter, K, Bassan, H, Borovikov, A, Nassogne, M C, Destrée, A, Schoonjans, A S, Meuwissen, M, Buzatu, M, Jansen, A, Scalais, E, Srivastava, S, Tan, W H, Olson, H E, Loddenkemper, T, Poduri, A, Helbig, K L, Helbig, I, Fitzgerald, M P, Goldberg, E M, Roser, T, Borggraefe, I, Brünger, T, May, P, Lal, D, Lederer, D, Rubboli, G, Heyne, H O, Lesca, G, Hedrich, U B S, Benda, J, Gardella, E, Lerche, H & Møller, R S 2022, ' Genotype-phenotype correlations in SCN8A-related disorders reveal prognostic and therapeutic implications ', Brain, vol. 145, no. 9, pp. 2991-3009 . https://doi.org/10.1093/brain/awab321
Johannesen, K M, Liu, Y, Gjerulfsen, C E, Koko, M, Sonnenberg, L, Schubert, J, Fenger, C D, Eltokhi, A, Rannap, M, Koch, N, Lauxmann, S, Krueger, J, Kegele, J, Canafoglia, L, Franceschetti, S, Mayer, T, Rebstock, J, Zacher, P, Ruf, S, Alber, M, Sterbova, K, Lassuthova, P, Vlckova, M, Lemke, J, Krey, I, Heine, C, Wieczorek, D, Kroell, J, Lund, C, Klein, K M, Au, P B, Rho, J, Ho, A, Masnada, S, Veggiotti, P, Giordano, L, Accorsi, P, Hoi-Hansen, C, Striano, P, Zara, F, Verhelst, H, Verhoeven, J S, van der Zwaag, B, Harder, A, Brilstra, E, Pendziwiat, M, Lebon, S, Vaccarezza, M, Le, N M, Christensen, J, Schmidt-Petersen, M, Gronborg, S, Scherer, S, Howe, J, Fazeli, W, Howell, K, Leventer, R, Stutterd, C, Walsh, S, Gerard, M, Gerard, B, Matricardi, S, Bonardi, C M, Sartori, S, Berger, A, Hoffman-Zacharska, D, Mastrangelo, M, Darra, F, Vollo, A, Motazacker, M M, Lakeman, P, Nizon, M, Betzler, C, Altuzarra, C, Caumes, R, Roubertie, A, Gelisse, P, Marini, C, Guerrini, R, Bilan, F, Koch-Hogrebe, M, Perry, S, Ichikawa, S, Dadali, E, Sharkov, A, Mishina, I, Abramov, M, Kanivets, I, Korostelev, S, Kutsev, S, Wain, K E, Eisenhauer, N, Wagner, M, Savatt, J, Mueller-Schlueter, K, Bassan, H, Borovikov, A, Nassogne, M-C, Destree, A, Schoonjans, A-S, Meuwissen, M, Buzatu, M, Jansen, A, Scalais, E, Srivastava, S, Tan, W-H, Olson, H, Loddenkemper, T, Poduri, A, Helbig, K L, Helbig, I, Fitzgerald, M, Goldberg, E M, Roser, T, Borggrafe, I, Brunger, T, May, P, Lal, D, Lederer, D, Rubboli, G, Lesca, G, Hedrich, U, Benda, J, Gardella, E, Lerche, H & Moeller, R S 2021, ' Genotype-phenotype correlations in SCN8A-related disorders reveal prognostic and therapeutic implications ', Epilepsia, vol. 62, no. Suppl. 3, 80, pp. 34-36 . https://doi.org/10.1111/epi.17079
Johannesen, K M, Liu, Y, Koko, M, Gjerulfsen, C E, Sonnenberg, L, Schubert, J, Fenger, C D, Eltokhi, A, Rannap, M, Koch, N A, Lauxmann, S, Krüger, J, Kegele, J, Canafoglia, L, Franceschetti, S, Mayer, T, Rebstock, J, Zacher, P, Ruf, S, Alber, M, Sterbova, K, Lassuthová, P, Vlckova, M, Lemke, J R, Platzer, K, Krey, I, Heine, C, Wieczorek, D, Kroell-Seger, J, Lund, C, Klein, K M, Au, P Y B, Rho, J M, Ho, A W, Masnada, S, Veggiotti, P, Giordano, L, Accorsi, P, Hoei-Hansen, C E, Striano, P, Zara, F, Verhelst, H, Verhoeven, J S, Braakman, H M H, van der Zwaag, B, Harder, A V E, Brilstra, E, Pendziwiat, M, Lebon, S, Vaccarezza, M, Le, N M, Christensen, J, Grønborg, S, Scherer, S W, Howe, J, Fazeli, W, Howell, K B, Leventer, R, Stutterd, C, Walsh, S, Gerard, M, Gerard, B, Matricardi, S, Bonardi, C M, Sartori, S, Berger, A, Hoffman-Zacharska, D, Mastrangelo, M, Darra, F, Vøllo, A, Motazacker, M M, Lakeman, P, Nizon, M, Betzler, C, Altuzarra, C, Caume, R, Roubertie, A, Gélisse, P, Marini, C, Guerrini, R, Bilan, F, Tibussek, D, Koch-Hogrebe, M, Perry, M S, Ichikawa, S, Dadali, E, Sharkov, A, Mishina, I, Abramov, M, Kanivets, I, Korostelev, S, Kutsev, S, Wain, K E, Eisenhauer, N, Wagner, M, Savatt, J M, Müller-Schlüter, K, Bassan, H, Borovikov, A, Nassogne, M C, Destrée, A, Schoonjans, A S, Meuwissen, M, Buzatu, M, Jansen, A, Scalais, E, Srivastava, S, Tan, W H, Olson, H E, Loddenkemper, T, Poduri, A, Helbig, K L, Helbig, I, Fitzgerald, M P, Goldberg, E M, Roser, T, Borggraefe, I, Brünger, T, May, P, Lal, D, Lederer, D, Rubboli, G, Heyne, H O, Lesca, G, Hedrich, U B S, Benda, J, Gardella, E, Lerche, H & Møller, R S 2022, 'Genotype-phenotype correlations in SCN8A-related disorders reveal prognostic and therapeutic implications', Brain, vol. 145, no. 9, pp. 2991-3009. https://doi.org/10.1093/brain/awab321

Van Den Bogaert, Kris; Lannoo, Lore; Brison, Nathalie; Gatinois, Vincent; Baetens, Machteld; Blaumeiser, Bettina; BOEMER, François; Bourlard, Laura; Bours, Vincent; De Leener, Anne; De Rademaeker, Marjan; Désir, Julie; Dheedene, Annelies; Duquenne, Armelle; Fieremans, Nathalie; Fieuw, Annelies; GATOT, Jean-Stéphane; Grisart, Bernard; Janssens, Katrien; Janssens, Sandra; Lederer, Damien; Marichal, Axel; Menten, Björn; Meunier, Colombine; PALMEIRA, Léonor; Pichon, Bruno; Sammels, Eva; Smits, Guillaume; Sznajer, Yves; Vantroys, Elise; Devriendt, Koenraad; Vermeesch, Joris Robert

Genetics in medicine, Vol. 23, no.6, p. 1137-1142 (2021)
Genetics in medicine

Johansson Lennart; Laurie Steve; Spalding Dylan; Gibson Spencer; Ruvolo David; Thomas Coline; Piscia Davide; de Andrade Fernanda; Been Gerieke; Bijlsma Marieke; Brunner Han; Cimerman Sandi; Dizjikan Farid Yavari; Ellwanger Kornelia; Fernandez Marcos; Freeberg Mallory; van de Geijn Gert-Jan; Kanninga Roan; Maddi Vatsalya; Mehtarizadeh Mehdi; Neerincx Pieter; Ossowski Stephan; Rath Ana; Roelofs-Prins Dieuwke; Stok-Benjamins Marloes; van der Velde K Joeri; Veal Colin; van der Vries Gerben; Wadsley Marc; Warren Gregory; Zurek Birte; Keane Thomas; Graessner Holm; Beltran Serg; Swertz Morris A; Brookes Anthony; Riess Olaf; Haack Tobias; Demidov German; Sturm Marc; Schulze-Hentrich Julia M; Schüle Rebecca; Xu Jishu; Kessler Christoph; Kellner Melanie; Synofzik Matthis; Wilke Carlo; Traschütz Andreas; Schöls Ludger; Hengel Holger; Lerche Holger; Kegele Josua; Heutink Peter; Scheffer Hans; Hoogerbrugge Nicoline; Hoischen Alexander; 't Hoen Peter; Vissers Lisenka ELM; Gilissen Christian; Steyaert Wouter; Sablauskas Karolis; de Voer Richarda M; Kamsteeg Erik-Jan; van de Warrenburg Bart; van Os Nienke; te Paske Iris; Janssen Erik; de Boer Elke; Steehouwer Marloes; Yaldiz Burcu; Kleefstra Tjitske; Brookes Anthony J; Riaz Umar; Warren Greg; Shorter Thomas; Töpf Ana; Straub Volker; Bettolo Chiara Marini; Manera Jordi Diaz; Hambleton Sophie; Engelhardt Karin; Clayton-Smith Jill; Banka Siddharth; Alexander Elizabeth; Jackson Adam; Faivre Laurence; Thauvin Christel; Vitobello Antonio; Denommé-Pichon Anne-Sophie; Duffourd Yannis; Bruel Ange-Line; Peyron Christine; Pélissier Aurore; Beltran Sergi; Gut Ivo Glynne; Laurie Steven; Matalonga Leslie; Papakonstantinou Anastasios; Bullich Gemma; Corvo Alberto; Fernandez-Callejo Marcos; Hernández Carles; Picó Daniel; Paramonov Ida; Lochmüller Hanns; Gumus Gulcin; Bros-Facer Virginie; Hanauer Marc; Lagorce David; Hongnat Oscar; Chahdil Maroua; Lebreton Emeline; Stevanin Giovanni; Durr Alexandra; Davoine Claire-Sophie; Guillot-Noel Léna; Heinzmann Anna; Coarelli Giulia; Bonne Gisèle; Evangelista Teresinha; Allamand Valérie; Nelson Isabelle; Yaou Rabah Ben; Metay Corinne; Eymard Bruno; Cohen Enzo; Atalaia Antonio; Stojkovic Tanya; Macek Milan; Turnovec Marek; Thomasová Dana; Kremliková Radka Pourová; Franková Vera; Havlovicová Markéta; Lišková Petra; Doležalová Pavla; Parkinson Helen; Robinson Peter; Danis Daniel; Robert Glenn; Costa Alessia; Patch Christine; Hanna Mike; Houlden Henry; Reilly Mary; Vandrovcova Jana; Efthymiou Stephanie; Morsy Heba; Cali Elisa; Magrinelli Francesca; Sisodiya Sanjay M; Rohrer Jonathan; Muntoni Francesco; Zaharieva Irina; Sarkozy Anna; Timmerman Vincent; Baets Jonathan; de Vries Geert; De Winter Jonathan; Beijer Danique; de Jonghe Peter; Van de Vondel Liedewei; De Ridder Willem; Weckhuysen Sarah; Nigro Vincenzo; Mutarelli Margherita; Morleo Manuela; Pinelli Michele; Varavallo Alessandra; Banfi Sandro; Torella Annalaura; Musacchia Francesco; Piluso Giulio; Ferlini Alessandra; Selvatici Rita; Gualandi Francesca; Bigoni Stefania; Rossi Rachele; Neri Marcella; Aretz Stefan; Spier Isabel; Sommer Anna Katharina; Peters Sophia; Oliveira Carla; Garcia-Pelaez Jose; Barbosa-Matos Rita; José Celina São; Ferreira Marta; Gullo Irene; Fernandes Susana; Garrido Luzia; Ferreira Pedro; Carneiro Fátima; van der Velde Joeri K; Neerincx Pieter B; Abbott Kristin M; Frederikse Wilhemina S Kerstjens; Zonneveld-Huijssoon Eveline; van Gijn Marielle; Köhler Sebastian; Metcalfe Alison; Verloes Alain; Drunat Séverine; Heron Delphine; Mignot Cyril; Keren Boris; de Sainte Agathe Jean-Madeleine; Rooryck Caroline; Lacombe Didier; Trimouille Aurelien; De la Paz Manuel Posada; Sánchez Eva Bermejo; Martín Estrella López; Delgado Beatriz Martínez; de la Rosa F Javier Alonso García; Ciolfi Andrea; Dallapiccola Bruno; Pizzi Simone; Radio Francesca Clementina; Tartaglia Marco; Renieri Alessandra; Furini Simone; Fallerini Chiara; Benetti Elisa; Balicza Peter; Molnar Maria Judit; Maver Ales; Peterlin Borut; Münchau Alexander; Lohmann Katja; Herzog Rebecca; Pauly Martje; Macaya Alfons; Cazurro-Gutiérrez Ana; Pérez-Dueñas Belén; Munell Francina; Jarava Clara Franco; Masó Laura Batlle; Marcé-Grau Anna; Colobran Roger; Osorio Andrés Nascimento; de Benito Daniel Natera; Thompson Rachel; Polavarapu Kiran; Grimbacher Bodo; Beeson David; Cossins Judith; Hackman Peter; Johari Mridul; Savarese Marco; Udd Bjarne; Horvath Rita; Chinnery Patrick F; Ratnaike Thiloka; Gao Fei; Schon Katherine; Capella Gabriel; Valle Laura; Holinski-Feder Elke; Laner Andreas; Steinke-Lange Verena; Schröck Evelin; Rump Andreas; Başak Ayşe Nazlı; Hemelsoet Dimitri; Dermaut Bart; Schuermans Nika; Poppe Bruce; Verdin Hannah; Mei Davide; Vetro Annalisa; Balestrini Simona; Guerrini Renzo; Claeys Kristl; Santen; Gijs W E; Bijlsma; Emilia K; Hoffer; Mariette J V; Ruivenkamp; Claudia A L; Boztug Kaan; Haimel Matthias; Maystadt Isabelle; Cordts Isabell; Deschauer Marcus; Zaganas Ioannis; Kokosali Evgenia; Lambros Mathioudakis; Evangeliou Athanasios; Spilioti Martha; Kapaki Elisabeth; Bourbouli Mara; Striano Pasquale; Zara Federico; Riva Antonella; Iacomino Michele; Uva Paolo; Scala Marcello; Scudieri Paolo; Cilio Maria-Roberta; Carpancea Evelina; Depondt Chantal; Lederer Damien; Sznajer Yves; Duerinckx Sarah; Mary Sandrine; Depienne Christel; Roos Andreas; May Patrick

Gigascience
Gigascience, 13, pp. giae058
GigaScience
Solve-RD consortium, Johansson, L F, Laurie, S, Spalding, D, Gibson, S, Ruvolo, D, Thomas, C, Piscia, D, De Andrade, F, Been, G, Bijlsma, M, Brunner, H, Cimerman, S, Dizjikan, F Y, Ellwanger, K, Fernandez, M, Freeberg, M, Van De Geijn, G J, Kanninga, R, Maddi, V, Mehtarizadeh, M, Neerincx, P, Ossowski, S, Rath, A, Roelofs-Prins, D, Stok-Benjamins, M, Van Der Velde, K J, Veal, C, Van Der Vries, G, Wadsley, M, Warren, G, Zurek, B, Keane, T, Graessner, H, Beltran, S, Swertz, M A, Brookes, A J, Riess, O, Haack, T B, Demidov, G, Sturm, M, Clayton-Smith, J, Banka, S, Alexander, E, Jackson, A, Robinson, P, Costa, A, Metcalfe, A, Thompson, R, Gao, F & May, P 2024, 'An interconnected data infrastructure to support large-scale rare disease research', GigaScience, vol. 13, giae058. https://doi.org/10.1093/gigascience/giae058

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CLINICAL GENETICS
r-FSJD. Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu
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r-FSJD: Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu
Fundació Sant Joan de Déu