Phenocopy of a heterozygous carrier of X-linked retinitis pigmentosa due to mosaicism for a RHO variant

por Strubbe, Ine, Van Cauwenbergh, Caroline, De Zaeytijd, Julie, De Jaegere, Sarah, De Bruyne, Marieke, Rosseel, Toon, Van de Sompele, Stijn, De Baere, Elfride, Leroy, Bart P.
Publicado 2021

A Novel Non-Coding Variant in DCLRE1C Results in Deregulated Splicing and Induces SCID Through the Generation of a Truncated ARTEMIS Protein That Fails to Support V(D)J Recombinati...

por Strubbe, Steven, De Bruyne, Marieke, Pannicke, Ulrich, Beyls, Elien, Vandekerckhove, Bart, Leclercq, Georges, De Baere, Elfride, Bordon, Victoria, Vral, Anne, Schwarz, Klaus, Haerynck, Filomeen, Taghon, Tom
Publicado 2021

Hidden Genetic Variation in LCA9‐Associated Congenital Blindness Explained by 5′UTR Mutations and Copy‐Number Variations of NMNAT1

por Coppieters, Frauke, Todeschini, Anne Laure, Fujimaki, Takuro, Baert, Annelot, De Bruyne, Marieke, Van Cauwenbergh, Caroline, Verdin, Hannah, Bauwens, Miriam, Ongenaert, Maté, Kondo, Mineo, Meire, Françoise, Murakami, Akira, Veitia, Reiner A., Leroy, Bart P., De Baere, Elfride
Publicado 2015

A novel IKAROS haploinsufficiency kindred with unexpectedly late and variable B-cell maturation defects

por Bogaert, Delfien J., Kuehn, Hye Sun, Bonroy, Carolien, Calvo, Katherine R., Dehoorne, Joke, Vanlander, Arnaud V., De Bruyne, Marieke, Cytlak, Urszula, Bigley, Venetia, De Baets, Frans, De Baere, Elfride, Rosenzweig, Sergio D., Haerynck, Filomeen, Dullaers, Melissa
Publicado 2018

Early-onset primary antibody deficiency resembling common variable immunodeficiency challenges the diagnosis of Wiedeman-Steiner and Roifman syndromes

por Bogaert, Delfien J., Dullaers, Melissa, Kuehn, Hye Sun, Leroy, Bart P., Niemela, Julie E., De Wilde, Hans, De Schryver, Sarah, De Bruyne, Marieke, Coppieters, Frauke, Lambrecht, Bart N., De Baets, Frans, Rosenzweig, Sergio D., De Baere, Elfride, Haerynck, Filomeen
Publicado 2017

Case Report: Convalescent Plasma, a Targeted Therapy for Patients with CVID and Severe COVID-19

por Van Damme, Karel F. A., Tavernier, Simon, Van Roy, Nele, De Leeuw, Elisabeth, Declercq, Jozefien, Bosteels, Cédric, Maes, Bastiaan, De Bruyne, Marieke, Bogaert, Delfien, Bosteels, Victor, Hoste, Levi, Naesens, Leslie, Maes, Piet, Grifoni, Alba, Weiskopf, Daniela, Sette, Alessandro, Depuydt, Pieter, Van Braeckel, Eva, Haerynck, Filomeen, Lambrecht, Bart N.
Publicado 2020

Mutations in RNU7-1 Weaken Secondary RNA Structure, Induce MCP-1 and CXCL10 in CSF, and Result in Aicardi-Goutières Syndrome with Severe End-Organ Involvement

por Naesens, Leslie, Nemegeer, Josephine, Roelens, Filip, Vallaeys, Lore, Meuwissen, Marije, Janssens, Katrien, Verloo, Patrick, Ogunjimi, Benson, Hemelsoet, Dimitri, Hoste, Levi, Roels, Lisa, De Bruyne, Marieke, De Baere, Elfride, Van Dorpe, Jo, Dendooven, Amélie, Sieben, Anne, Rice, Gillian I., Kerre, Tessa, Beyaert, Rudi, Uggenti, Carolina, Crow, Yanick J., Tavernier, Simon J., Maelfait, Jonathan, Haerynck, Filomeen
Publicado 2022

Isolated and Syndromic Retinal Dystrophy Caused by Biallelic Mutations in RCBTB1, a Gene Implicated in Ubiquitination

por Coppieters, Frauke, Ascari, Giulia, Dannhausen, Katharina, Nikopoulos, Konstantinos, Peelman, Frank, Karlstetter, Marcus, Xu, Mingchu, Brachet, Cécile, Meunier, Isabelle, Tsilimbaris, Miltiadis K., Tsika, Chrysanthi, Blazaki, Styliani V., Vergult, Sarah, Farinelli, Pietro, Van Laethem, Thalia, Bauwens, Miriam, De Bruyne, Marieke, Chen, Rui, Langmann, Thomas, Sui, Ruifang, Meire, Françoise, Rivolta, Carlo, Hamel, Christian P., Leroy, Bart P., De Baere, Elfride
Publicado 2016

A CARD9 Founder Mutation Disrupts NF-κB Signaling by Inhibiting BCL10 and MALT1 Recruitment and Signalosome Formation

por De Bruyne, Marieke, Hoste, Levi, Bogaert, Delfien J., Van den Bossche, Lien, Tavernier, Simon J., Parthoens, Eef, Migaud, Mélanie, Konopnicki, Deborah, Yombi, Jean Cyr, Lambrecht, Bart N., van Daele, Sabine, Alves de Medeiros, Ana Karina, Brochez, Lieve, Beyaert, Rudi, De Baere, Elfride, Puel, Anne, Casanova, Jean-Laurent, Goffard, Jean-Christophe, Savvides, Savvas N., Haerynck, Filomeen, Staal, Jens, Dullaers, Melissa
Publicado 2018

Long-Read Sequencing to Unravel Complex Structural Variants of CEP78 Leading to Cone-Rod Dystrophy and Hearing Loss

por Ascari, Giulia, Rendtorff, Nanna D., De Bruyne, Marieke, De Zaeytijd, Julie, Van Lint, Michel, Bauwens, Miriam, Van Heetvelde, Mattias, Arno, Gavin, Jacob, Julie, Creytens, David, Van Dorpe, Jo, Van Laethem, Thalia, Rosseel, Toon, De Pooter, Tim, De Rijk, Peter, De Coster, Wouter, Menten, Björn, Rey, Alfredo Dueñas, Strazisar, Mojca, Bertelsen, Mette, Tranebjaerg, Lisbeth, De Baere, Elfride
Publicado 2021

Cost-effective sequence analysis of 113 genes in 1,192 probands with retinitis pigmentosa and Leber congenital amaurosis

por Panneman, Daan M., Hitti-Malin, Rebekkah J., Holtes, Lara K., de Bruijn, Suzanne E., Reurink, Janine, Boonen, Erica G. M., Khan, Muhammad Imran, Ali, Manir, Andréasson, Sten, De Baere, Elfride, Banfi, Sandro, Bauwens, Miriam, Ben-Yosef, Tamar, Bocquet, Béatrice, De Bruyne, Marieke, de la Cerda, Berta, Coppieters, Frauke, Farinelli, Pietro, Guignard, Thomas, Inglehearn, Chris F., Karali, Marianthi, Kjellström, Ulrika, Koenekoop, Robert, de Koning, Bart, Leroy, Bart P., McKibbin, Martin, Meunier, Isabelle, Nikopoulos, Konstantinos, Nishiguchi, Koji M., Poulter, James A., Rivolta, Carlo, Rodríguez de la Rúa, Enrique, Saunders, Patrick, Simonelli, Francesca, Tatour, Yasmin, Testa, Francesco, Thiadens, Alberta A. H. J., Toomes, Carmel, Tracewska, Anna M., Tran, Hoai Viet, Ushida, Hiroaki, Vaclavik, Veronika, Verhoeven, Virginie J. M., van de Vorst, Maartje, Gilissen, Christian, Hoischen, Alexander, Cremers, Frans P. M., Roosing, Susanne
Publicado 2023

Correction: Dominant-negative mutations in human IL6ST underlie hyper-IgE syndrome

por Béziat, Vivien, Tavernier, Simon J., Chen, Yin-Huai, Ma, Cindy S., Materna, Marie, Laurence, Arian, Staal, Jens, Aschenbrenner, Dominik, Roels, Lisa, Worley, Lisa, Claes, Kathleen, Gartner, Lisa, Kohn, Lisa A., De Bruyne, Marieke, Schmitz-Abe, Klaus, Charbonnier, Louis-Marie, Keles, Sevgi, Nammour, Justine, Vladikine, Natasha, Luxman Maglorius Renkilaraj, Majistor Raj, Seeleuthner, Yoann, Migaud, Mélanie, Rosain, Jérémie, Jeljeli, Mohamed, Boisson, Bertrand, Van Braeckel, Eva, Rosenfeld, Jill A., Dai, Hongzheng, Burrage, Lindsay C., Murdock, David R., Lambrecht, Bart N., Avettand-Fenoel, Véronique, Vogel, Tiphanie P., Network, Undiagnosed Diseases, Esther, Charles R., Haskologlu, Sule, Dogu, Figen, Ciznar, Peter, Boutboul, David, Ouachée-Chardin, Marie, Amourette, Jean, Lebras, Marie-Noëlle, Gauvain, Clément, Tcherakian, Colas, Ikinciogullari, Aydan, Beyaert, Rudi, Abel, Laurent, Milner, Joshua D., Grimbacher, Bodo, Couderc, Louis-Jean, Butte, Manish J., Freeman, Alexandra F., Catherinot, Émilie, Fieschi, Claire, Chatila, Talal A., Tangye, Stuart G., Uhlig, Holm H., Haerynck, Filomeen, Casanova, Jean-Laurent, Puel, Anne
Publicado 2020

Dominant-negative mutations in human IL6ST underlie hyper-IgE syndrome

por Béziat, Vivien, Tavernier, Simon J., Chen, Yin-Huai, Ma, Cindy S., Materna, Marie, Laurence, Arian, Staal, Jens, Aschenbrenner, Dominik, Roels, Lisa, Worley, Lisa, Claes, Kathleen, Gartner, Lisa, Kohn, Lisa A., De Bruyne, Marieke, Schmitz-Abe, Klaus, Charbonnier, Louis-Marie, Keles, Sevgi, Nammour, Justine, Vladikine, Natasha, Maglorius Renkilaraj, Majistor Raj Luxman, Seeleuthner, Yoann, Migaud, Mélanie, Rosain, Jérémie, Jeljeli, Mohamed, Boisson, Bertrand, Van Braeckel, Eva, Rosenfeld, Jill A., Dai, Hongzheng, Burrage, Lindsay C., Murdock, David R., Lambrecht, Bart N., Avettand-Fenoel, Véronique, Vogel, Tiphanie P., Esther, Charles R., Haskologlu, Sule, Dogu, Figen, Ciznar, Peter, Boutboul, David, Ouachée-Chardin, Marie, Amourette, Jean, Lebras, Marie-Noëlle, Gauvain, Clément, Tcherakian, Colas, Ikinciogullari, Aydan, Beyaert, Rudi, Abel, Laurent, Milner, Joshua D., Grimbacher, Bodo, Couderc, Louis-Jean, Butte, Manish J., Freeman, Alexandra F., Catherinot, Émilie, Fieschi, Claire, Chatila, Talal A., Tangye, Stuart G., Uhlig, Holm H., Haerynck, Filomeen, Casanova, Jean-Laurent, Puel, Anne
Publicado 2020