ABCA4-associated disease as a model for missing heritability in autosomal recessive disorders: novel noncoding splice, cis-regulatory, structural, and recurrent hypomorphic variants
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
Published in Genetics in medicine (01.08.2019)
Published in Genetics in medicine (01.08.2019)
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Deep-intronic ABCA4 variants explain missing heritability in Stargardt disease and allow correction of splice defects by antisense oligonucleotides
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.
Published in Genetics in medicine (01.08.2019)
Published in Genetics in medicine (01.08.2019)
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A Restricted Repertoire of De Novo Mutations in ITPR1 Cause Gillespie Syndrome with Evidence for Dominant-Negative Effect
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.
Published in American journal of human genetics (05.05.2016)
Published in American journal of human genetics (05.05.2016)
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A Nonsense Mutation in PDE6H Causes Autosomal-Recessive Incomplete Achromatopsia
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
Published in American journal of human genetics (07.09.2012)
Published in American journal of human genetics (07.09.2012)
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A qualitative study among patients with an inherited retinal disease on the meaning of genomic unsolicited findings
Saelaert, Marlies, Mertes, Heidi, Moerenhout, Tania, Van Cauwenbergh, Caroline, Leroy, Bart P., Devisch, Ignaas, De Baere, Elfride
Published in Scientific reports (04.08.2021)
Published in Scientific reports (04.08.2021)
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Phenocopy of a heterozygous carrier of X-linked retinitis pigmentosa due to mosaicism for a RHO variant
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.
Published in Scientific reports (08.01.2021)
Published in Scientific reports (08.01.2021)
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Journal Article
IQCB1 mutations in patients with leber congenital amaurosis
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
Published in Investigative ophthalmology & visual science (11.02.2011)
Published in Investigative ophthalmology & visual science (11.02.2011)
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Recurrent Mutation in the First Zinc Finger of the Orphan Nuclear Receptor NR2E3 Causes Autosomal Dominant Retinitis Pigmentosa
Coppieters, Frauke, Leroy, Bart P., Beysen, Diane, Hellemans, Jan, De Bosscher, Karolien, Haegeman, Guy, Robberecht, Kirsten, Wuyts, Wim, Coucke, Paul J., De Baere, Elfride
Published in American journal of human genetics (01.07.2007)
Published in American journal of human genetics (01.07.2007)
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Maternal Uniparental Isodisomy of Chromosome 6 Reveals a TULP1 Mutation as a Novel Cause of Cone Dysfunction
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
Published in Ophthalmology (Rochester, Minn.) (01.06.2013)
Published in Ophthalmology (Rochester, Minn.) (01.06.2013)
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Submicroscopic Deletions at 13q32.1 Cause Congenital Microcoria
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
Published in American journal of human genetics (02.04.2015)
Published in American journal of human genetics (02.04.2015)
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FOXL2 and BPES: Mutational Hotspots, Phenotypic Variability, and Revision of the Genotype-Phenotype Correlation
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
Published in American journal of human genetics (01.02.2003)
Published in American journal of human genetics (01.02.2003)
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In memory of Ludwine Messiaen, Ph.D. (1956–2024)
De Baere, Elfride, Legius, Eric, Veitia, Reiner A., Claes, Kathleen
Published in Clinical genetics (01.11.2024)
Published in Clinical genetics (01.11.2024)
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CEP290, a gene with many faces: mutation overview and presentation of CEP290base
Coppieters, Frauke, Lefever, Steve, Leroy, Bart P, De Baere, Elfride
Published in Human mutation (01.10.2010)
Published in Human mutation (01.10.2010)
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Mother and daughter became father and son: a case report
Sajevets, Tatjana, Verroken, Charlotte, Heylens, Gunter, De Baere, Elfride, T'Sjoen, Guy
Published in Asian journal of andrology (01.09.2015)
Published in Asian journal of andrology (01.09.2015)
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CNGB3 mutation spectrum including copy number variations in 552 achromatopsia patients
Mayer, Anja K., Cauwenbergh, Caroline, Rother, Christine, Baumann, Britta, Reuter, Peggy, Baere, Elfride, Wissinger, Bernd, Kohl, Susanne
Published in Human mutation (01.11.2017)
Published in Human mutation (01.11.2017)
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Journal Article
CRB1-associated retinal dystrophies in a Belgian cohort: genetic characteristics and long-term clinical follow-up
Talib, Mays, Van Cauwenbergh, Caroline, De Zaeytijd, Julie, Van Wynsberghe, David, De Baere, Elfride, Boon, Camiel J F, Leroy, Bart Peter
Published in British journal of ophthalmology (01.05.2022)
Published in British journal of ophthalmology (01.05.2022)
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HRAS‐related epidermal nevus syndromes: Expansion of the spectrum with first branchial arch defects
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
Published in Clinical genetics (01.06.2023)
Published in Clinical genetics (01.06.2023)
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Familial Mediterranean fever mutations lift the obligatory requirement for microtubules in Pyrin inflammasome activation
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
Published in Proceedings of the National Academy of Sciences - PNAS (13.12.2016)
Published in Proceedings of the National Academy of Sciences - PNAS (13.12.2016)
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HDAC8 mutations in Cornelia de Lange syndrome affect the cohesin acetylation cycle
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
Published in Nature (London) (13.09.2012)
Published in Nature (London) (13.09.2012)
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