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

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Deep-intronic ABCA4 variants explain missing heritability in Stargardt disease and allow correction of splice defects by antisense oligonucleotides von Sangermano, Riccardo, Garanto, Alejandro, Khan, Mubeen, Runhart, Esmee H., Bauwens, Miriam, Bax, Nathalie M., van den Born, L. Ingeborgh, Khan, Muhammad Imran, Cornelis, Stéphanie S., Verheij, Joke B. G. M., Pott, Jan-Willem R., Thiadens, Alberta A. H. J., Klaver, Caroline C. W., Puech, Bernard, Meunier, Isabelle, Naessens, Sarah, Arno, Gavin, Fakin, Ana, Carss, Keren J., Raymond, F. Lucy, Webster, Andrew R., Dhaenens, Claire-Marie, Stöhr, Heidi, Grassmann, Felix, Weber, Bernhard H. F., Hoyng, Carel B., De Baere, Elfride, Albert, Silvia, Collin, Rob W. J., Cremers, Frans P. M.

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A Restricted Repertoire of De Novo Mutations in ITPR1 Cause Gillespie Syndrome with Evidence for Dominant-Negative Effect von McEntagart, Meriel, Williamson, Kathleen A., Rainger, Jacqueline K., Wheeler, Ann, Seawright, Anne, De Baere, Elfride, Verdin, Hannah, Bergendahl, L. Therese, Quigley, Alan, Rainger, Joe, Dixit, Abhijit, Sarkar, Ajoy, López Laso, Eduardo, Sanchez-Carpintero, Rocio, Barrio, Jesus, Bitoun, Pierre, Prescott, Trine, Riise, Ruth, McKee, Shane, Cook, Jackie, McKie, Lisa, Ceulemans, Berten, Meire, Françoise, Temple, I. Karen, Prieur, Fabienne, Williams, Jonathan, Clouston, Penny, Németh, Andrea H., Banka, Siddharth, Bengani, Hemant, Handley, Mark, Freyer, Elisabeth, Ross, Allyson, van Heyningen, Veronica, Marsh, Joseph A., Elmslie, Frances, FitzPatrick, David R.

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Clinical, Pathologic, and Genetic Spectrum of Collagen VI–Related Disorder in China—A Retrospective Observational Multicenter Study von Hu, Chaoping, Shi, Yiyun, Zhao, Lei, Zhu, Wenhua, Jiao, Kexin, Yu, Lifei, Li, Xihua, Wang, Yi

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A Nonsense Mutation in PDE6H Causes Autosomal-Recessive Incomplete Achromatopsia von Kohl, Susanne, Coppieters, Frauke, Meire, Françoise, Schaich, Simone, Roosing, Susanne, Brennenstuhl, Christina, Bolz, Sylvia, van Genderen, Maria M., Riemslag, Frans C.C., Lukowski, Robert, den Hollander, Anneke I., Cremers, Frans P.M., De Baere, Elfride, Hoyng, Carel B., Wissinger, Bernd

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A qualitative study among patients with an inherited retinal disease on the meaning of genomic unsolicited findings von Saelaert, Marlies, Mertes, Heidi, Moerenhout, Tania, Van Cauwenbergh, Caroline, Leroy, Bart P., Devisch, Ignaas, De Baere, Elfride

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

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IQCB1 mutations in patients with leber congenital amaurosis von Estrada-Cuzcano, Alejandro, Koenekoop, Robert K, Coppieters, Frauke, Kohl, Susanne, Lopez, Irma, Collin, Rob W J, De Baere, Elfride B W, Roeleveld, Debbie, Marek, Jonah, Bernd, Antje, Rohrschneider, Klaus, van den Born, L Ingeborgh, Meire, Françoise, Maumenee, Irene H, Jacobson, Samuel G, Hoyng, Carel B, Zrenner, Eberhart, Cremers, Frans P M, den Hollander, Anneke I

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In memory of Ludwine Messiaen, Ph.D. (1956–2024) von De Baere, Elfride, Legius, Eric, Veitia, Reiner A., Claes, Kathleen

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Recurrent Mutation in the First Zinc Finger of the Orphan Nuclear Receptor NR2E3 Causes Autosomal Dominant Retinitis Pigmentosa von Coppieters, Frauke, Leroy, Bart P., Beysen, Diane, Hellemans, Jan, De Bosscher, Karolien, Haegeman, Guy, Robberecht, Kirsten, Wuyts, Wim, Coucke, Paul J., De Baere, Elfride

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CEP290, a gene with many faces: mutation overview and presentation of CEP290base von Coppieters, Frauke, Lefever, Steve, Leroy, Bart P, De Baere, Elfride

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CNGB3 mutation spectrum including copy number variations in 552 achromatopsia patients von Mayer, Anja K., Cauwenbergh, Caroline, Rother, Christine, Baumann, Britta, Reuter, Peggy, Baere, Elfride, Wissinger, Bernd, Kohl, Susanne

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Maternal Uniparental Isodisomy of Chromosome 6 Reveals a TULP1 Mutation as a Novel Cause of Cone Dysfunction von Roosing, Susanne, BSc, van den Born, L. Ingeborgh, MD, PhD, Hoyng, Carel B., MD, PhD, Thiadens, Alberta A.H.J., MD, PhD, de Baere, Elfride, MD, PhD, Collin, Rob W.J., PhD, Koenekoop, Robert K., MD, PhD, Leroy, Bart P., MD, PhD, van Moll-Ramirez, Norka, MD, Venselaar, Hanka, PhD, Riemslag, Frans C.C., PhD, Cremers, Frans P.M., PhD, Klaver, Caroline C.W., MD, PhD, den Hollander, Anneke I., PhD

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Submicroscopic Deletions at 13q32.1 Cause Congenital Microcoria von Fares-Taie, Lucas, Gerber, Sylvie, Tawara, Akihiko, Ramirez-Miranda, Arturo, Douet, Jean-Yves, Verdin, Hannah, Guilloux, Antoine, Zenteno, Juan C., Kondo, Hiroyuki, Moisset, Hugo, Passet, Bruno, Yamamoto, Ken, Iwai, Masaru, Tanaka, Toshihiro, Nakamura, Yusuke, Kimura, Wataru, Bole-Feysot, Christine, Vilotte, Marthe, Odent, Sylvie, Vilotte, Jean-Luc, Munnich, Arnold, Regnier, Alain, Chassaing, Nicolas, De Baere, Elfride, Raymond-Letron, Isabelle, Kaplan, Josseline, Calvas, Patrick, Roche, Olivier, Rozet, Jean-Michel

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FOXL2 and BPES: Mutational Hotspots, Phenotypic Variability, and Revision of the Genotype-Phenotype Correlation von De Baere, Elfride, Beysen, Diane, Oley, Christine, Lorenz, Birgit, Cocquet, Julie, De Sutter, Paul, Devriendt, Koen, Dixon, Michael, Fellous, Marc, Fryns, Jean-Pierre, Garza, Arturo, Jonsrud, Christoffer, Koivisto, Pasi A., Krause, Amanda, Leroy, Bart P., Meire, Françoise, Plomp, Astrid, Van Maldergem, Lionel, De Paepe, Anne, Veitia, Reiner, Messiaen, Ludwine

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Incidental or secondary findings: an integrative and patient-inclusive approach to the current debate von Saelaert, Marlies, Mertes, Heidi, De Baere, Elfride, Devisch, Ignaas

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CRB1-associated retinal dystrophies in a Belgian cohort: genetic characteristics and long-term clinical follow-up von Talib, Mays, Van Cauwenbergh, Caroline, De Zaeytijd, Julie, Van Wynsberghe, David, De Baere, Elfride, Boon, Camiel J F, Leroy, Bart Peter

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Familial Mediterranean fever mutations lift the obligatory requirement for microtubules in Pyrin inflammasome activation von Van Gorp, Hanne, Saavedra, Pedro H. V., de Vasconcelos, Nathalia M., Van Opdenbosch, Nina, Vande Walle, Lieselotte, Matusiak, Magdalena, Prencipe, Giusi, Insalaco, Antonella, Van Hauwermeiren, Filip, Demon, Dieter, Bogaert, Delfien J., Dullaers, Melissa, De Baere, Elfride, Hochepied, Tino, Dehoorne, Joke, Vermaelen, Karim Y., Haerynck, Filomeen, De Benedetti, Fabrizio, Lamkanfi, Mohamed

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HRAS‐related epidermal nevus syndromes: Expansion of the spectrum with first branchial arch defects von Beyens, Aude, Lietaer, Charlotte, Claes, Kathleen, De Baere, Elfride, Goeteyn, Marleen, Lerut, Bob, Syryn, Hannes, Vanakker, Olivier, Van der Meulen, Joni, Vanwalleghem, Lieve, Callewaert, Bert

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HDAC8 mutations in Cornelia de Lange syndrome affect the cohesin acetylation cycle von Deardorff, Matthew A., Bando, Masashige, Nakato, Ryuichiro, Watrin, Erwan, Itoh, Takehiko, Minamino, Masashi, Saitoh, Katsuya, Komata, Makiko, Katou, Yuki, Clark, Dinah, Cole, Kathryn E., De Baere, Elfride, Decroos, Christophe, Di Donato, Nataliya, Ernst, Sarah, Francey, Lauren J., Gyftodimou, Yolanda, Hirashima, Kyotaro, Hullings, Melanie, Ishikawa, Yuuichi, Jaulin, Christian, Kaur, Maninder, Kiyono, Tohru, Lombardi, Patrick M., Magnaghi-Jaulin, Laura, Mortier, Geert R., Nozaki, Naohito, Petersen, Michael B., Seimiya, Hiroyuki, Siu, Victoria M., Suzuki, Yutaka, Takagaki, Kentaro, Wilde, Jonathan J., Willems, Patrick J., Prigent, Claude, Gillessen-Kaesbach, Gabriele, Christianson, David W., Kaiser, Frank J., Jackson, Laird G., Hirota, Toru, Krantz, Ian D., Shirahige, Katsuhiko

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