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

av Ardui, Simon, Race, Valerie, de Ravel, Thomy, Van Esch, Hilde, Devriendt, Koenraad, Matthijs, Gert, Vermeesch, Joris R.
I publikationen Front Genet (2018)

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

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

The spectrum of hand and foot malformations in patients with Greig cephalopolysyndactyly

av Debeer, Philippe, Devriendt, Koen, De Smet, Luc, deRavel, Thomy, Gonzalez-Meneses, Antonio, Grzeschik, Karl-Heinz, Fryns, Jean-Pierre
Publicerad 2007

A syndrome of short stature, microcephaly and speech delay is associated with duplications reciprocal to the common Sotos syndrome deletion

av Franco, Luis M, de Ravel, Thomy, Graham, Brett H, Frenkel, Stephanie M, Van Driessche, Jozef, Stankiewicz, Pawel, Lupski, James R, Vermeesch, Joris R, Cheung, Sau Wai
Publicerad 2010

Deletion and Point Mutations of PTHLH Cause Brachydactyly Type E

av Klopocki, Eva, Hennig, Bianca P., Dathe, Katarina, Koll, Randi, de Ravel, Thomy, Baten, Emiel, Blom, Eveline, Gillerot, Yves, Weigel, Johannes F.W., Krüger, Gabriele, Hiort, Olaf, Seemann, Petra, Mundlos, Stefan
Publicerad 2010

Platelet defects in congenital variant of Rett syndrome patients with FOXG1 mutations or reduced expression due to a position effect at 14q12

av Goubau, Christophe, Devriendt, Koen, Van der Aa, Nathalie, Crepel, An, Wieczorek, Dagmar, Kleefstra, Tjitske, Willemsen, Marjolein H, Rauch, Anita, Tzschach, Andreas, de Ravel, Thomy, Leemans, Peter, Van Geet, Chris, Buyse, Gunnar, Freson, Kathleen
Publicerad 2013

Sclerocornea in a Patient with Van Den Ende–Gupta Syndrome Homozygous for a SCARF2 Microdeletion

av Migliavacca, Michele P., Sobreira, Nara L. M., Antonialli, Graziela P.M., Oliveira, Mariana M., Melaragno, Maria Isabel S.A., Casteels, Ingele, de Ravel, Thomy, Brunoni, Decio, Valle, David, Perez, Ana Beatriz A.
I publikationen Am J Med Genet A (2014)

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

av 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
I publikationen Hum Reprod (2018)

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

av 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
I publikationen PLoS One (2017)

Noninvasive prenatal testing using a novel analysis pipeline to screen for all autosomal fetal aneuploidies improves pregnancy management

av Bayindir, Baran, Dehaspe, Luc, Brison, Nathalie, Brady, Paul, Ardui, Simon, Kammoun, Molka, Van der Veken, Lars, Lichtenbelt, Klaske, Van den Bogaert, Kris, Van Houdt, Jeroen, Peeters, Hilde, Van Esch, Hilde, de Ravel, Thomy, Legius, Eric, Devriendt, Koen, Vermeesch, Joris R
I publikationen Eur J Hum Genet (2015)

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

av 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
I publikationen Sci Rep (2020)

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

av 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
Publicerad 2013

Haploinsufficiency of TCF4 Causes Syndromal Mental Retardation with Intermittent Hyperventilation (Pitt-Hopkins Syndrome)

av Zweier, Christiane, Peippo, Maarit M., Hoyer, Juliane, Sousa, Sérgio, Bottani, Armand, Clayton-Smith, Jill, Reardon, William, Saraiva, Jorge, Cabral, Alexandra, Göhring, Ina, Devriendt, Koen, de Ravel, Thomy, Bijlsma, Emilia K., Hennekam, Raoul C. M., Orrico, Alfredo, Cohen, Monika, Dreweke, Alexander, Reis, André, Nürnberg, Peter, Rauch, Anita
Publicerad 2007

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

av 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
Publicerad 2010

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

av 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
I publikationen Orphanet J Rare Dis (2015)

Identification of a Novel BBS Gene (BBS12) Highlights the Major Role of a Vertebrate-Specific Branch of Chaperonin-Related Proteins in Bardet-Biedl Syndrome

av Stoetzel, Corinne, Muller, Jean, Laurier, Virginie, Davis, Erica E., Zaghloul, Norann A., Vicaire, Serge, Jacquelin, Cécile, Plewniak, Frédéric, Leitch, Carmen C., Sarda, Pierre, Hamel, Christian, de Ravel, Thomy J. L., Lewis, Richard Alan, Friederich, Evelyne, Thibault, Christelle, Danse, Jean-Marc, Verloes, Alain, Bonneau, Dominique, Katsanis, Nicholas, Poch, Olivier, Mandel, Jean-Louis, Dollfus, Hélène
Publicerad 2007

Duplications of FOXG1 in 14q12 are associated with developmental epilepsy, mental retardation, and severe speech impairment

av Brunetti-Pierri, Nicola, Paciorkowski, Alex R, Ciccone, Roberto, Mina, Erika Della, Bonaglia, Maria Clara, Borgatti, Renato, Schaaf, Christian P, Sutton, V Reid, Xia, Zhilian, Jelluma, Naftha, Ruivenkamp, Claudia, Bertrand, Mary, de Ravel, Thomy J L, Jayakar, Parul, Belli, Serena, Rocchetti, Katia, Pantaleoni, Chiara, D'Arrigo, Stefano, Hughes, Jeff, Cheung, Sau Wai, Zuffardi, Orsetta, Stankiewicz, Pawel
Publicerad 2011

A molecular and clinical study of Larsen syndrome caused by mutations in FLNB

av Bicknell, Louise S, Farrington‐Rock, Claire, Shafeghati, Yousef, Rump, Patrick, Alanay, Yasemin, Alembik, Yves, Al‐Madani, Navid, Firth, Helen, Karimi‐Nejad, Mohammad Hassan, Kim, Chong Ae, Leask, Kathryn, Maisenbacher, Melissa, Moran, Ellen, Pappas, John G, Prontera, Paolo, de Ravel, Thomy, Fryns, Jean‐Pierre, Sweeney, Elizabeth, Fryer, Alan, Unger, Sheila, Wilson, L C, Lachman, Ralph S, Rimoin, David L, Cohn, Daniel H, Krakow, Deborah, Robertson, Stephen P
Publicerad 2007

Genome-wide association analysis identifies a susceptibility locus for pulmonary arterial hypertension

av Germain, Marine, Eyries, Mélanie, Montani, David, Poirier, Odette, Girerd, Barbara, Dorfmüller, Peter, Coulet, Florence, Nadaud, Sophie, Maugenre, Svetlana, Guignabert, Christophe, Carpentier, Wassila, Vonk-Noordegraaf, Anton, Levy, Marilyne, Chaouat, Ari, Lambert, Jean-Charles, Marion, Bertrand M, Dupuy, Anne-Marie, Letenneur, Luc, Lathrop, Mark, Amouyel, Philippe, de Ravel, Thomy JL, Delcroix, Marion, Austin, Eric D., Robbins, Ivan M., Hemnes, Anna R., Loyd, James E., Berman-Rosenzwieg, Erika, Barst, Robyn J., Chung, Wendy K., Simonneau, Gerald, Trégouët, David A., Humbert, Marc, Soubrier, Florent
Publicerad 2013

Whole-Exome Sequencing Identifies Mutations in GPR179 Leading to Autosomal-Recessive Complete Congenital Stationary Night Blindness

av Audo, Isabelle, Bujakowska, Kinga, Orhan, Elise, Poloschek, Charlotte M., Defoort-Dhellemmes, Sabine, Drumare, Isabelle, Kohl, Susanne, Luu, Tien D., Lecompte, Odile, Zrenner, Eberhart, Lancelot, Marie-Elise, Antonio, Aline, Germain, Aurore, Michiels, Christelle, Audier, Claire, Letexier, Mélanie, Saraiva, Jean-Paul, Leroy, Bart P., Munier, Francis L., Mohand-Saïd, Saddek, Lorenz, Birgit, Friedburg, Christoph, Preising, Markus, Kellner, Ulrich, Renner, Agnes B., Moskova-Doumanova, Veselina, Berger, Wolfgang, Wissinger, Bernd, Hamel, Christian P., Schorderet, Daniel F., De Baere, Elfride, Sharon, Dror, Banin, Eyal, Jacobson, Samuel G., Bonneau, Dominique, Zanlonghi, Xavier, Le Meur, Guylene, Casteels, Ingele, Koenekoop, Robert, Long, Vernon W., Meire, Francoise, Prescott, Katrina, de Ravel, Thomy, Simmons, Ian, Nguyen, Hoan, Dollfus, Hélène, Poch, Olivier, Léveillard, Thierry, Nguyen-Ba-Charvet, Kim, Sahel, José-Alain, Bhattacharya, Shomi S., Zeitz, Christina
Publicerad 2012