Barriers and facilitators for the implementation of patient-centered care in cardiogenetics: a Delphi study among ERN GUARD-heart members

por van Pottelberghe, Saar, Heine, Fenja, Van Dooren, Sonia, Hes, Frederik, Kupper, Nina
Publicado 2022

Identification of differentially methylated regions in rare diseases from a single-patient perspective

por Grolaux, Robin, Hardy, Alexis, Olsen, Catharina, Van Dooren, Sonia, Smits, Guillaume, Defrance, Matthieu
Publicado 2022

Understanding mutational effects in digenic diseases

por Gazzo, Andrea, Raimondi, Daniele, Daneels, Dorien, Moreau, Yves, Smits, Guillaume, Van Dooren, Sonia, Lenaerts, Tom
Publicado 2017

Compound heterozygous null mutations of NOBOX in sisters with delayed puberty and primary amenorrhea

por Sassi, Asma, Désir, Julie, Duerinckx, Sarah, Soblet, Julie, Van Dooren, Sonia, Bonduelle, Maryse, Abramowicz, Marc, Delbaere, Anne
Publicado 2021

DIDA: A curated and annotated digenic diseases database

por Gazzo, Andrea M., Daneels, Dorien, Cilia, Elisa, Bonduelle, Maryse, Abramowicz, Marc, Van Dooren, Sonia, Smits, Guillaume, Lenaerts, Tom
Publicado 2016

Predicting disease-causing variant combinations

por Papadimitriou, Sofia, Gazzo, Andrea, Versbraegen, Nassim, Nachtegael, Charlotte, Aerts, Jan, Moreau, Yves, Van Dooren, Sonia, Nowé, Ann, Smits, Guillaume, Lenaerts, Tom
Publicado 2019

Novel inactivating follicle-stimulating hormone receptor mutations in a patient with premature ovarian insufficiency identified by next-generation sequencing gene panel analysis

por Sassi, Asma, Désir, Julie, Janssens, Véronique, Marangoni, Martina, Daneels, Dorien, Gheldof, Alexander, Bonduelle, Maryse, Van Dooren, Sonia, Costagliola, Sabine, Delbaere, Anne
Publicado 2020

Comprehensive evaluation of the implementation of episignatures for diagnosis of neurodevelopmental disorders (NDDs)

por Giuili, Edoardo, Grolaux, Robin, Macedo, Catarina Z. N. M., Desmyter, Laurence, Pichon, Bruno, Neuens, Sebastian, Vilain, Catheline, Olsen, Catharina, Van Dooren, Sonia, Smits, Guillaume, Defrance, Matthieu
Publicado 2023

Identification of candidate cancer predisposing variants by performing whole-exome sequencing on index patients from BRCA1 and BRCA2-negative breast cancer families

por Shahi, Rajendra Bahadur, De Brakeleer, Sylvia, Caljon, Ben, Pauwels, Ingrid, Bonduelle, Maryse, Joris, Sofie, Fontaine, Christel, Vanhoeij, Marian, Van Dooren, Sonia, Teugels, Erik, De Grève, Jacques
Publicado 2019

Patient-reported outcome measures on mental health and psychosocial factors in patients with Brugada syndrome

por Six, Stefaan, Theuns, Peter, Libin, Pieter, Nowé, Ann, Pannone, Luigi, Bogaerts, Bart, Jaxy, Simon, Olsen, Catharina, Pappaert, Gudrun, Grau, Isel, Sieira, Juan, Van Dooren, Sonia, Scheirlynck, Esther, Nekkebroeck, Julie, Mallefroy, Marina, de Asmundis, Carlo, Bilsen, Johan
Publicado 2023

Intracerebral administration of CTLA-4 and PD-1 immune checkpoint blocking monoclonal antibodies in patients with recurrent glioblastoma: a phase I clinical trial

por Duerinck, Johnny, Schwarze, Julia Katharina, Awada, Gil, Tijtgat, Jens, Vaeyens, Freya, Bertels, Cleo, Geens, Wietse, Klein, Samuel, Seynaeve, Laura, Cras, Louise, D’Haene, Nicky, Michotte, Alex, Caljon, Ben, Salmon, Isabelle, Bruneau, Michaël, Kockx, Mark, Van Dooren, Sonia, Vanbinst, Anne-Marie, Everaert, Hendrik, Forsyth, Ramses, Neyns, Bart
Publicado 2021

Genetic testing in children with Brugada syndrome: results from a large prospective registry

por Pannone, Luigi, Bisignani, Antonio, Osei, Randy, Gauthey, Anaïs, Sorgente, Antonio, Vergara, Pasquale, Monaco, Cinzia, Della Rocca, Domenico Giovanni, Del Monte, Alvise, Strazdas, Antanas, Mojica, Joerelle, Al Housari, Maysam, Miraglia, Vincenzo, Mouram, Sahar, Paparella, Gaetano, Ramak, Robbert, Overeinder, Ingrid, Bala, Gezim, Almorad, Alexandre, Ströker, Erwin, Pappaert, Gudrun, Sieira, Juan, de Ravel, Thomy, La Meir, Mark, Brugada, Pedro, Chierchia, Gian Battista, Van Dooren, Sonia, de Asmundis, Carlo
Publicado 2023

Enhancing rare variant interpretation in inherited arrhythmias through quantitative analysis of consortium disease cohorts and population controls

por Walsh, Roddy, Lahrouchi, Najim, Tadros, Rafik, Kyndt, Florence, Glinge, Charlotte, Postema, Pieter G., Amin, Ahmad S., Nannenberg, Eline A., Ware, James S., Whiffin, Nicola, Mazzarotto, Francesco, Škorić-Milosavljević, Doris, Krijger, Christian, Arbelo, Elena, Babuty, Dominique, Barajas-Martinez, Hector, Beckmann, Britt M., Bézieau, Stéphane, Bos, J. Martijn, Breckpot, Jeroen, Campuzano, Oscar, Castelletti, Silvia, Celen, Candan, Clauss, Sebastian, Corveleyn, Anniek, Crotti, Lia, Dagradi, Federica, de Asmundis, Carlo, Denjoy, Isabelle, Dittmann, Sven, Ellinor, Patrick T., Ortuño, Cristina Gil, Giustetto, Carla, Gourraud, Jean-Baptiste, Hazeki, Daisuke, Horie, Minoru, Ishikawa, Taisuke, Itoh, Hideki, Kaneko, Yoshiaki, Kanters, Jørgen K., Kimoto, Hiroki, Kotta, Maria-Christina, Krapels, Ingrid P. C., Kurabayashi, Masahiko, Lazarte, Julieta, Leenhardt, Antoine, Loeys, Bart L., Lundin, Catarina, Makiyama, Takeru, Mansourati, Jacques, Martins, Raphaël P., Mazzanti, Andrea, Mörner, Stellan, Napolitano, Carlo, Ohkubo, Kimie, Papadakis, Michael, Rudic, Boris, Molina, Maria Sabater, Sacher, Frédéric, Sahin, Hatice, Sarquella-Brugada, Georgia, Sebastiano, Regina, Sharma, Sanjay, Sheppard, Mary N., Shimamoto, Keiko, Shoemaker, M. Benjamin, Stallmeyer, Birgit, Steinfurt, Johannes, Tanaka, Yuji, Tester, David J., Usuda, Keisuke, van der Zwaag, Paul A., Van Dooren, Sonia, Van Laer, Lut, Winbo, Annika, Winkel, Bo G., Yamagata, Kenichiro, Zumhagen, Sven, Volders, Paul G. A., Lubitz, Steven A., Antzelevitch, Charles, Platonov, Pyotr G., Odening, Katja E., Roden, Dan M., Roberts, Jason D., Skinner, Jonathan R., Tfelt-Hansen, Jacob, van den Berg, Maarten P., Olesen, Morten S., Lambiase, Pier D., Borggrefe, Martin, Hayashi, Kenshi, Rydberg, Annika, Nakajima, Tadashi, Yoshinaga, Masao, Saenen, Johan B., Kääb, Stefan, Brugada, Pedro, Robyns, Tomas, Giachino, Daniela F., Ackerman, Michael J., Brugada, Ramon, Brugada, Josep, Gimeno, Juan R., Hasdemir, Can, Guicheney, Pascale, Priori, Silvia G., Schulze-Bahr, Eric, Makita, Naomasa, Schwartz, Peter J., Shimizu, Wataru, Aiba, Takeshi, Schott, Jean-Jacques, Redon, Richard, Ohno, Seiko, Probst, Vincent, Behr, Elijah R., Barc, Julien, Bezzina, Connie R.
Publicado 2020