Pathogenic P554S Variant in TLR3 in a Patient with Severe Influenza Pneumonia

por Bucciol, Giorgia, Desmet, Lars, Corveleyn, Anniek, Meyts, Isabelle
Publicado 2021

A Novel Kindred with MyD88 Deficiency

por Bucciol, Giorgia, Moens, Leen, Corveleyn, Anniek, Dreesman, Alexandra, Meyts, Isabelle
Publicado 2022

Discordance for placental mesenchymal dysplasia in a monochorionic diamniotic twin pregnancy: A case report

por Gheysen, Willem, Strybol, David, Moerman, Philippe, Steylemans, An, Corveleyn, Anniek, De Catte, Luc, Couck, Isabel, Lewi, Liesbeth
Publicado 2018

A standardized framework for the validation and verification of clinical molecular genetic tests

por Mattocks, Christopher J, Morris, Michael A, Matthijs, Gert, Swinnen, Elfriede, Corveleyn, Anniek, Dequeker, Els, Müller, Clemens R, Pratt, Victoria, Wallace, Andrew
Publicado 2010

A double-edged sword

por Vandebotermet, Martijn, Staels, Frederik, Giovannozzi, Simone, Delforge, Michel, Tousseyn, Thomas, Steelandt, Thomas, Corveleyn, Anniek, Meyts, Isabelle, Maertens, Johan, Yserbyt, Jonas, Schrijvers, Rik
Publicado 2020

Compound heterozygous loss-of-function mutations in KIF20A are associated with a novel lethal congenital cardiomyopathy in two siblings

por Louw, Jacoba J., Nunes Bastos, Ricardo, Chen, Xiaowen, Verdood, Céline, Corveleyn, Anniek, Jia, Yaojuan, Breckpot, Jeroen, Gewillig, Marc, Peeters, Hilde, Santoro, Massimo M., Barr, Francis, Devriendt, Koenraad
Publicado 2018

Guidelines for diagnostic next-generation sequencing

por Matthijs, Gert, Souche, Erika, Alders, Mariëlle, Corveleyn, Anniek, Eck, Sebastian, Feenstra, Ilse, Race, Valérie, Sistermans, Erik, Sturm, Marc, Weiss, Marjan, Yntema, Helger, Bakker, Egbert, Scheffer, Hans, Bauer, Peter
Publicado 2016

Adult-Onset ANCA-Associated Vasculitis in SAVI: Extension of the Phenotypic Spectrum, Case Report and Review of the Literature

por Staels, Frederik, Betrains, Albrecht, Doubel, Peter, Willemsen, Mathijs, Cleemput, Vincent, Vanderschueren, Steven, Corveleyn, Anniek, Meyts, Isabelle, Sprangers, Ben, Crow, Yanick J., Humblet-Baron, Stephanie, Liston, Adrian, Schrijvers, Rik
Publicado 2020

Frequency of Participation in External Quality Assessment Programs Focused on Rare Diseases: Belgian Guidelines for Human Genetics Centers

por Lantoine, Joséphine, Brysse, Anne, Dideberg, Vinciane, Claes, Kathleen, Symoens, Sofie, Coucke, Wim, Benoit, Valérie, Rombout, Sonia, De Rycke, Martine, Seneca, Sara, Van Laer, Lut, Wuyts, Wim, Corveleyn, Anniek, Van Den Bogaert, Kris, Rydlewski, Catherine, Wilkin, Françoise, Ravoet, Marie, Fastré, Elodie, Capron, Arnaud, Vandevelde, Nathalie Monique
Publicado 2021

Common variable immunodeficiency in two kindreds with heterogeneous phenotypes caused by novel heterozygous NFKB1 mutations

por Staels, Frederik, De Keukeleere, Kerstin, Kinnunen, Matias, Keskitalo, Salla, Lorenzetti, Flaminia, Vanmeert, Michiel, Prezzemolo, Teresa, Pasciuto, Emanuela, Lescrinier, Eveline, Bossuyt, Xavier, Gerbaux, Margaux, Willemsen, Mathijs, Neumann, Julika, Van Loo, Sien, Corveleyn, Anniek, Willekens, Karen, Stalmans, Ingeborg, Meyts, Isabelle, Liston, Adrian, Humblet-Baron, Stephanie, Seppänen, Mikko, Varjosalo, Markku, Schrijvers, Rik
Publicado 2022

Human DOCK2 Deficiency: Report of a Novel Mutation and Evidence for Neutrophil Dysfunction

por Moens, Leen, Gouwy, Mieke, Bosch, Barbara, Pastukhov, Oleksandr, Nieto-Patlàn, Alejandro, Siler, Ulrich, Bucciol, Giorgia, Mekahli, Djalila, Vermeulen, François, Desmet, Lars, Maebe, Sophie, Flipts, Helena, Corveleyn, Anniek, Moshous, Despina, Philippet, Pierre, Tangye, Stuart G., Boisson, Bertrand, Casanova, Jean-Laurent, Florkin, Benoit, Struyf, Sofie, Reichenbach, Janine, Bustamante, Jacinta, Notarangelo, Luigi D., Meyts, Isabelle
Publicado 2019

Consensus statement on standards and guidelines for the molecular diagnostics of Alport syndrome: refining the ACMG criteria

por Savige, Judy, Storey, Helen, Watson, Elizabeth, Hertz, Jens Michael, Deltas, Constantinos, Renieri, Alessandra, Mari, Francesca, Hilbert, Pascale, Plevova, Pavlina, Byers, Peter, Cerkauskaite, Agne, Gregory, Martin, Cerkauskiene, Rimante, Ljubanovic, Danica Galesic, Becherucci, Francesca, Errichiello, Carmela, Massella, Laura, Aiello, Valeria, Lennon, Rachel, Hopkinson, Louise, Koziell, Ania, Lungu, Adrian, Rothe, Hansjorg Martin, Hoefele, Julia, Zacchia, Miriam, Martic, Tamara Nikuseva, Gupta, Asheeta, van Eerde, Albertien, Gear, Susie, Landini, Samuela, Palazzo, Viviana, al-Rabadi, Laith, Claes, Kathleen, Corveleyn, Anniek, Van Hoof, Evelien, van Geel, Micheel, Williams, Maggie, Ashton, Emma, Belge, Hendica, Ars, Elisabeth, Bierzynska, Agnieszka, Gangemi, Concetta, Lipska-Ziętkiewicz, Beata S.
Publicado 2021

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