Reduced Penetrance and Variable Expression of SCN5A Mutations and the Importance of Co-inherited Genetic Variants: Case Report and Review of the Literature

por Robyns, T, Nuyens, D, Van Casteren, L, Corveleyn, A, De Ravel, T, Heidbuchel, H, Willems, R
Publicado 2014

Detecting AGG Interruptions in Females With a FMR1 Premutation by Long-Read Single-Molecule Sequencing: A 1 Year Clinical Experience

por Ardui, Simon, Race, Valerie, de Ravel, Thomy, Van Esch, Hilde, Devriendt, Koenraad, Matthijs, Gert, Vermeesch, Joris R.
Publicado 2018

Novel and recurrent PITX3 mutations in Belgian families with autosomal dominant congenital cataract and anterior segment dysgenesis have similar phenotypic and functional character...

por Verdin, Hannah, Sorokina, Elena A, Meire, Françoise, Casteels, Ingele, de Ravel, Thomy, Semina, Elena V, De Baere, Elfride
Publicado 2014

Case report: Coexistence of myotonia congenita and Brugada syndrome in one family

por Cordenier, Ann, Flamez, Anja, de Ravel, Thomy, Gheldof, Alexander, Pannone, Luigi, De Asmundis, Carlo, Pappaert, Gudrun, Bissay, Véronique
Publicado 2022

In vitro modulation of multidrug resistance by pregnane steroids and in vivo inhibition of tumour development by 7α-OBz-11α(R)-OTHP-5β-pregnanedione in K562/R7 and H295R cell xenog...

por Alameh, Ghina, Emptoz-Bonneton, Agnès, Rolland de Ravel, Marc, Matera, Eva L., Mappus, Elisabeth, Balaguer, Patrick, Rocheblave, Luc, Lomberget, Thierry, Dumontet, Charles, Le Borgne, Marc, Pugeat, Michel, Grenot, Catherine, Cuilleron, Claude Y.
Publicado 2019

Genome-wide haplotyping embryos developing from 0PN and 1PN zygotes increases transferrable embryos in PGT-M

por Destouni, Aspasia, Dimitriadou, Eftychia, Masset, Heleen, Debrock, Sophie, Melotte, Cindy, Van Den Bogaert, Kris, Zamani Esteki, Masoud, Ding, Jia, Voet, Thiery, Denayer, Ellen, de Ravel, Thomy, Legius, Eric, Meuleman, Christel, Peeraer, Karen, Vermeesch, Joris R
Publicado 2018

Mutations in Splicing Factor Genes Are a Major Cause of Autosomal Dominant Retinitis Pigmentosa in Belgian Families

por Van Cauwenbergh, Caroline, Coppieters, Frauke, Roels, Dimitri, De Jaegere, Sarah, Flipts, Helena, De Zaeytijd, Julie, Walraedt, Sophie, Claes, Charlotte, Fransen, Erik, Van Camp, Guy, Depasse, Fanny, Casteels, Ingele, de Ravel, Thomy, Leroy, Bart P., De Baere, Elfride
Publicado 2017

The majority of autosomal recessive nanophthalmos and posterior microphthalmia can be attributed to biallelic sequence and structural variants in MFRP and PRSS56

por Almoallem, Basamat, Arno, Gavin, De Zaeytijd, Julie, Verdin, Hannah, Balikova, Irina, Casteels, Ingele, de Ravel, Thomy, Hull, Sarah, Suzani, Martina, Destrée, Anne, Peng, Michelle, Williams, Denise, Ainsworth, John R., Webster, Andrew R., Leroy, Bart P., Moore, Anthony T., De Baere, Elfride
Publicado 2020

Rer1p maintains ciliary length and signaling by regulating γ-secretase activity and Foxj1a levels

por Jurisch-Yaksi, Nathalie, Rose, Applonia J., Lu, Huiqi, Raemaekers, Tim, Munck, Sebastian, Baatsen, Pieter, Baert, Veerle, Vermeire, Wendy, Scales, Suzie J., Verleyen, Daphne, Vandepoel, Roel, Tylzanowski, Przemko, Yaksi, Emre, de Ravel, Thomy, Yost, H. Joseph, Froyen, Guy, Arrington, Cammon B., Annaert, Wim
Publicado 2013

Recurrent reciprocal deletions and duplications of 16p13.11: the deletion is a risk factor for MR/MCA while the duplication may be a rare benign variant

por Hannes, F D, Sharp, A J, Mefford, H C, de Ravel, T, Ruivenkamp, C A, Breuning, M H, Fryns, J-P, Devriendt, K, Van Buggenhout, G, Vogels, A, Stewart, H, Hennekam, R C, Cooper, G M, Regan, R, Knight, S J L, Eichler, E E, Vermeesch, J R
Publicado 2009

Genetic Screening of LCA in Belgium: Predominance of CEP290 and Identification of Potential Modifier Alleles in AHI1 of CEP290-related Phenotypes

por Coppieters, Frauke, Casteels, Ingele, Meire, Françoise, De Jaegere, Sarah, Hooghe, Sally, van Regemorter, Nicole, Van Esch, Hilde, Matulevičienė, Aušra, Nunes, Luis, Meersschaut, Valérie, Walraedt, Sophie, Standaert, Lieve, Coucke, Paul, Hoeben, Heidi, Kroes, Hester Y, Vande Walle, Johan, de Ravel, Thomy, Leroy, Bart P, De Baere, Elfride
Publicado 2010

No evidence of locus heterogeneity in familial microcephaly with or without chorioretinopathy, lymphedema, or mental retardation syndrome

por Schlögel, Matthieu J, Mendola, Antonella, Fastré, Elodie, Vasudevan, Pradeep, Devriendt, Koen, de Ravel, Thomy JL, Van Esch, Hilde, Casteels, Ingele, Arroyo Carrera, Ignacio, Cristofoli, Francesca, Fieggen, Karen, Jones, Katheryn, Lipson, Mark, Balikova, Irina, Singer, Ami, Soller, Maria, Mercedes Villanueva, María, Revencu, Nicole, Boon, Laurence M, Brouillard, Pascal, Vikkula, Miikka
Publicado 2015

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

ABCA4-associated disease as a model for missing heritability in autosomal recessive disorders: novel noncoding splice, cis-regulatory, structural, and recurrent hypomorphic variant...

por Bauwens, Miriam, Garanto, Alejandro, Sangermano, Riccardo, Naessens, Sarah, Weisschuh, Nicole, De Zaeytijd, Julie, Khan, Mubeen, Sadler, Françoise, Balikova, Irina, Van Cauwenbergh, Caroline, Rosseel, Toon, Bauwens, Jim, De Leeneer, Kim, De Jaegere, Sarah, Van Laethem, Thalia, De Vries, Meindert, Carss, Keren, Arno, Gavin, Fakin, Ana, Webster, Andrew R., de Ravel de l’Argentière, Thomy J. L., Sznajer, Yves, Vuylsteke, Marnik, Kohl, Susanne, Wissinger, Bernd, Cherry, Timothy, Collin, Rob W. J., Cremers, Frans P. M., Leroy, Bart P., De Baere, Elfride
Publicado 2019

Heterozygous loss-of-function SMC3 variants are associated with variable and incompletely penetrant growth and developmental features

por Ansari, Morad, Faour, Kamli N. W., Shimamura, Akiko, Grimes, Graeme, Kao, Emeline M., Denhoff, Erica R., Blatnik, Ana, Ben-Isvy, Daniel, Wang, Lily, Helm, Benjamin M., Firth, Helen, Breman, Amy M., Bijlsma, Emilia K., Iwata-Otsubo, Aiko, de Ravel, Thomy J.L., Fusaro, Vincent, Fryer, Alan, Nykamp, Keith, Stühn, Lara G., Haack, Tobias B., Korenke, G. Christoph, Constantinou, Panayiotis, Bujakowska, Kinga M., Low, Karen J., Place, Emily, Humberson, Jennifer, Napier, Melanie P., Hoffman, Jessica, Juusola, Jane, Deardorff, Matthew A., Shao, Wanqing, Rockowitz, Shira, Krantz, Ian, Kaur, Maninder, Raible, Sarah, Kliesch, Sabine, Singer-Berk, Moriel, Groopman, Emily, DiTroia, Stephanie, Ballal, Sonia, Srivastava, Siddharth, Rothfelder, Kathrin, Biskup, Saskia, Rzasa, Jessica, Kerkhof, Jennifer, McConkey, Haley, O’Donnell-Luria, Anne, Sadikovic, Bekim, Hilton, Sarah, Banka, Siddharth, Tüttelmann, Frank, Conrad, Donald, Talkowski, Michael E., FitzPatrick, David R., Boone, Philip M.
Publicado 2023