Clinical Perspective: Treating RPE65-Associated Retinal Dystrophy
Maguire, Albert M., Bennett, Jean, Aleman, Elena M., Leroy, Bart P., Aleman, Tomas S.
Published in Molecular therapy (03.02.2021)
Published in Molecular therapy (03.02.2021)
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Safety and durability of effect of contralateral-eye administration of AAV2 gene therapy in patients with childhood-onset blindness caused by RPE65 mutations: a follow-on phase 1 trial
Bennett, Jean, Prof, Wellman, Jennifer, MSc, Marshall, Kathleen A, COT, McCague, Sarah, BA, Ashtari, Manzar, PhD, DiStefano-Pappas, Julie, BA, Elci, Okan U, PhD, Chung, Daniel C, DO, Sun, Junwei, MSc, Wright, J Fraser, PhD, Cross, Dominique R, MPH, Aravand, Puya, BA, Cyckowski, Laura L, BA, Bennicelli, Jeannette L, PhD, Mingozzi, Federico, PhD, Auricchio, Alberto, MD, Pierce, Eric A, MD, Ruggiero, Jason, MD, Leroy, Bart P, Prof, Simonelli, Francesca, Prof, High, Katherine A, MD, Maguire, Albert M, Prof
Published in The Lancet (British edition) (13.08.2016)
Published in The Lancet (British edition) (13.08.2016)
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Effect of an intravitreal antisense oligonucleotide on vision in Leber congenital amaurosis due to a photoreceptor cilium defect
Cideciyan, Artur V., Jacobson, Samuel G., Drack, Arlene V., Ho, Allen C., Charng, Jason, Garafalo, Alexandra V., Roman, Alejandro J., Sumaroka, Alexander, Han, Ian C., Hochstedler, Maria D., Pfeifer, Wanda L., Sohn, Elliott H., Taiel, Magali, Schwartz, Michael R., Biasutto, Patricia, Wit, Wilma de, Cheetham, Michael E., Adamson, Peter, Rodman, David M., Platenburg, Gerard, Tome, Maria D., Balikova, Irina, Nerinckx, Fanny, Zaeytijd, Julie De, Van Cauwenbergh, Caroline, Leroy, Bart P., Russell, Stephen R.
Published in Nature medicine (01.02.2019)
Published in Nature medicine (01.02.2019)
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Genetic testing and diagnosis of inherited retinal diseases
Lam, Byron L, Leroy, Bart P, Black, Graeme, Ong, Tuyen, Yoon, Dan, Trzupek, Karmen
Published in Orphanet journal of rare diseases (14.12.2021)
Published in Orphanet journal of rare diseases (14.12.2021)
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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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Mutations in Splicing Factor Genes Are a Major Cause of Autosomal Dominant Retinitis Pigmentosa in Belgian Families
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
Published in PloS one (11.01.2017)
Published in PloS one (11.01.2017)
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Age-dependent effects of RPE65 gene therapy for Leber's congenital amaurosis: a phase 1 dose-escalation trial
Maguire, Albert M, MD, High, Katherine A, Prof, Auricchio, Alberto, Prof, Wright, J Fraser, PhD, Pierce, Eric A, MD, Testa, Francesco, MD, Mingozzi, Federico, PhD, Bennicelli, Jeannette L, PhD, Ying, Gui-shuang, PhD, Rossi, Settimio, MD, Fulton, Ann, Prof, Marshall, Kathleen A, COT, Banfi, Sandro, MD, Chung, Daniel C, DO, Morgan, Jessica IW, PhD, Hauck, Bernd, PhD, Zelenaia, Olga, PhD, Zhu, Xiaosong, MD, Raffini, Leslie, MD, Coppieters, Frauke, PhD, De Baere, Elfride, PhD, Shindler, Kenneth S, MD, Volpe, Nicholas J, Prof, Surace, Enrico M, DVM, Acerra, Carmela, BA, Lyubarsky, Arkady, PhD, Redmond, T Michael, PhD, Stone, Edwin, Prof, Sun, Junwei, MBA, McDonnell, Jennifer Wellman, MS, Leroy, Bart P, Prof, Simonelli, Francesca, MD, Bennett, Jean, Prof
Published in The Lancet (British edition) (07.11.2009)
Published in The Lancet (British edition) (07.11.2009)
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Mutations in IFT172 cause isolated retinal degeneration and Bardet-Biedl syndrome
Bujakowska, Kinga M, Zhang, Qi, Siemiatkowska, Anna M, Liu, Qin, Place, Emily, Falk, Marni J, Consugar, Mark, Lancelot, Marie-Elise, Antonio, Aline, Lonjou, Christine, Carpentier, Wassila, Mohand-Saïd, Saddek, den Hollander, Anneke I, Cremers, Frans P M, Leroy, Bart P, Gai, Xiaowu, Sahel, José-Alain, van den Born, L Ingeborgh, Collin, Rob W J, Zeitz, Christina, Audo, Isabelle, Pierce, Eric A
Published in Human molecular genetics (01.01.2015)
Published in Human molecular genetics (01.01.2015)
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Clinical Course, Genetic Etiology, and Visual Outcome in Cone and Cone–Rod Dystrophy
Thiadens, Alberta A.H.J., MD, PhD, Phan, T. My Lan, MD, Zekveld-Vroon, Renate C., MD, Leroy, Bart P., MD, PhD, van den Born, L. Ingeborgh, MD, PhD, Hoyng, Carel B., MD, PhD, Klaver, Caroline C.W., MD, PhD, Roosing, Susanne, Pott, Jan-Willem R, van Schooneveld, Mary J, van Moll-Ramirez, Norka, van Genderen, Maria M, Boon, Camiel J.F, den Hollander, Anneke I, Bergen, Arthur A.B, De Baere, Elfride, Cremers, Frans P.M, Lotery, Andrew J
Published in Ophthalmology (Rochester, Minn.) (01.04.2012)
Published in Ophthalmology (Rochester, Minn.) (01.04.2012)
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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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Gonadal Mosaicism as a Rare Inheritance Pattern in Recessive Genodermatoses: Report of Two Cases with Pseudoxanthoma Elasticum and Literature Review
Dangreau, Lisa, Hosen, Mohammad J, De Zaeytijd, Julie, Leroy, Bart P, Coucke, Paul J, Vanakker, Olivier M
Published in Current Issues in Molecular Biology (11.09.2024)
Published in Current Issues in Molecular Biology (11.09.2024)
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Mitochondrial single-stranded DNA binding protein novel de novo SSBP1 mutation in a child with single large-scale mtDNA deletion (SLSMD) clinically manifesting as Pearson, Kearns-Sayre, and Leigh syndromes
Gustafson, Margaret A, McCormick, Elizabeth M, Perera, Lalith, Longley, Matthew J, Bai, Renkui, Kong, Jianping, Dulik, Matthew, Shen, Lishuang, Goldstein, Amy C, McCormack, Shana E, Laskin, Benjamin L, Leroy, Bart P, Ortiz-Gonzalez, Xilma R, Ellington, Meredith G, Copeland, William C, Falk, Marni J
Published in PloS one (03.09.2019)
Published in PloS one (03.09.2019)
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Visual Prognosis in USH2A -Associated Retinitis Pigmentosa Is Worse for Patients with Usher Syndrome Type IIa Than for Those with Nonsyndromic Retinitis Pigmentosa
Pierrache, Laurence H.M., MD, Hartel, Bas P., MD, van Wijk, Erwin, PhD, Meester-Smoor, Magda A., PhD, Cremers, Frans P.M., PhD, de Baere, Elfride, MD, PhD, de Zaeytijd, Julie, MD, van Schooneveld, Mary J., MD, PhD, Cremers, Cor W.R.J., MD, PhD, Dagnelie, Gislin, PhD, Hoyng, Carel B., MD, PhD, Bergen, Arthur A., PhD, Leroy, Bart P., MD, PhD, Pennings, Ronald J.E., MD, PhD, van den Born, L. Ingeborgh, MD, PhD, Klaver, Caroline C.W., MD, PhD
Published in Ophthalmology (Rochester, Minn.) (01.05.2016)
Published in Ophthalmology (Rochester, Minn.) (01.05.2016)
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Abetalipoproteinemia From Previously Unreported Gene Mutations
Aers, Xavier-Philippe, Leroy, Bart P, Defesche, Joep C, Shadid, Samyah
Published in Annals of internal medicine (05.02.2019)
Published in Annals of internal medicine (05.02.2019)
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The need for widely available genomic testing in rare eye diseases: an ERN-EYE position statement
Black, Graeme C, Sergouniotis, Panagiotis, Sodi, Andrea, Leroy, Bart P, Van Cauwenbergh, Caroline, Liskova, Petra, Grønskov, Karen, Klett, Artur, Kohl, Susanne, Taurina, Gita, Sukys, Marius, Haer-Wigman, Lonneke, Nowomiejska, Katarzyna, Marques, João Pedro, Leroux, Dorothée, Cremers, Frans P M, De Baere, Elfride, Dollfus, Hélène
Published in Orphanet journal of rare diseases (20.03.2021)
Published in Orphanet journal of rare diseases (20.03.2021)
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Characterization of Cardiovascular Involvement in Pseudoxanthoma Elasticum Families
Campens, Laurence, Vanakker, Olivier M, Trachet, Bram, Segers, Patrick, Leroy, Bart P, De Zaeytijd, Julie, Voet, Dirk, De Paepe, Anne, De Backer, Tine, De Backer, Julie
Published in Arteriosclerosis, thrombosis, and vascular biology (01.11.2013)
Published in Arteriosclerosis, thrombosis, and vascular biology (01.11.2013)
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The human visual cortex responds to gene therapy-mediated recovery of retinal function
Ashtari, Manzar, Cyckowski, Laura L, Monroe, Justin F, Marshall, Kathleen A, Chung, Daniel C, Auricchio, Alberto, Simonelli, Francesca, Leroy, Bart P, Maguire, Albert M, Shindler, Kenneth S, Bennett, Jean
Published in The Journal of clinical investigation (01.06.2011)
Published in The Journal of clinical investigation (01.06.2011)
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Isolated and Syndromic Retinal Dystrophy Caused by Biallelic Mutations in RCBTB1, a Gene Implicated in Ubiquitination
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
Published in American journal of human genetics (04.08.2016)
Published in American journal of human genetics (04.08.2016)
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Characteristics of autosomal dominant WFS1-associated optic neuropathy and its comparability to OPA1-associated autosomal dominant optic atrophy
de Muijnck, Cansu, Haer-Wigman, Lonneke, van Everdingen, Judith A. M., Lushchyk, Tanya, Heutinck, Pam A. T., van Dooren, Marieke F., Kievit, Anneke J. A., Verhoeven, Virginie J. M., Simon, Marleen E. H., Wasmann, Rosemarie A., Notting, Irene C., De Baere, Elfride, Walraedt, Sophie, De Zaeytijd, Julie, Van den Broeck, Filip, Leroy, Bart P., Boon, Camiel J. F., van Genderen, Maria M.
Published in Scientific reports (03.10.2024)
Published in Scientific reports (03.10.2024)
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