Items where Author is "De Baere, Elfride"

Article

Hitti-Malin, Rebekkah J. and Panneman, Daan M. and Corradi, Zelia and Boonen, Erica G. M. and Astuti, Galuh and Dhaenens, Claire-Marie and Stoehr, Heidi and Weber, Bernhard H. F. and Sharon, Dror and Banin, Eyal and Karali, Marianthi and Banfi, Sandro and Ben-Yosef, Tamar and Glavac, Damjan and Farrar, G. Jane and Ayuso, Carmen and Liskova, Petra and Dudakova, Lubica and Vajter, Marie and Oldak, Monika and Szaflik, Jacek P. and Matynia, Anna and Gorin, Michael B. and Kaempjaervi, Kati and Bauwens, Miriam and De Baere, Elfride and Hoyng, Carel B. and Li, Catherina H. Z. and Klaver, Caroline C. W. and Inglehearn, Chris F. and Fujinami, Kaoru and Rivolta, Carlo and Allikmets, Rando and Zernant, Jana and Lee, Winston and Podhajcer, Osvaldo L. and Fakin, Ana and Sajovic, Jana and Altalbishi, Alaa and Valeina, Sandra and Taurina, Gita and Vincent, Andrea L. and Roberts, Lisa and Ramesar, Raj and Sartor, Giovanna and Luppi, Elena and Downes, Susan M. and van den Born, L. Ingeborgh and Mclaren, Terri L. and De Roach, John N. and Lamey, Tina M. and Thompson, Jennifer A. and Chen, Fred K. and Tracewska, Anna M. and Kamakari, Smaragda and Sallum, Juliana Maria Ferraz and Bolz, Hanno J. and Kayserili, Huelya and Roosing, Susanne and Cremers, Frans P. M. (2024) Towards Uncovering the Role of Incomplete Penetrance in Maculopathies through Sequencing of 105 Disease-Associated Genes. BIOMOLECULES, 14 (3): 367. ISSN , 2218-273X

Nuzhat, Nafisa and Van Schil, Kristof and Liakopoulos, Sandra and Bauwens, Miriam and Rey, Alfredo Duenas and Kaeseberg, Stephan and Jaeger, Melanie and Willer, Jason R. and Winter, Jennifer and Truong, Hanh M. and Gruartmoner, Nuria and Van Heetvelde, Mattias and Wolf, Joachim and Merget, Robert and Grasshoff-Derr, Sabine and Van Dorpe, Jo and Hoorens, Anne and Stoehr, Heidi and Mansard, Luke and Roux, Anne-Francoise and Langmann, Thomas and Dannhausen, Katharina and Rosenkranz, David and Wissing, Karl M. and Van Lint, Michel and Rossmann, Heidi and Haeuser, Friederike and Nuernberg, Peter and Thiele, Holger and Zechner, Ulrich and Pearring, Jillian N. and De Baere, Elfride and Bolz, Hanno J. (2023) CEP162 deficiency causes human retinal degeneration and reveals a dual role in ciliogenesis and neurogenesis. JOURNAL OF CLINICAL INVESTIGATION, 133 (8): e161156. ISSN 0021-9738, 1558-8238

Khan, Mubeen and Cornelis, Stephanie S. and Del Pozo-Valero, Marta and Whelan, Laura and Runhart, Esmee H. and Mishra, Ketan and Bults, Femke and AlSwaiti, Yahya and AlTalbishi, Alaa and De Baere, Elfride and Banfi, Sandro and Banin, Eyal and Bauwens, Miriam and Ben-Yosef, Tamar and Boon, Camiel J. F. and van den Born, L. Ingeborgh and Defoort, Sabine and Devos, Aurore and Dockery, Adrian and Dudakova, Lubica and Fakin, Ana and Farrar, G. Jane and Sallum, Juliana Maria Ferraz and Fujinami, Kaoru and Gilissen, Christian and Glavac, Damjan and Gorin, Michael B. and Greenberg, Jacquie and Hayashi, Takaaki and Hettinga, Ymkje M. and Hoischen, Alexander and Hoyng, Carel B. and Hufendiek, Karsten and Jaegle, Herbert and Kamakari, Smaragda and Karali, Marianthi and Kellner, Ulrich and Klaver, Caroline C. W. and Kousal, Bohdan and Lamey, Tina M. and MacDonald, Ian M. and Matynia, Anna and McLaren, Terri L. and Mena, Marcela D. and Meunier, Isabelle and Miller, Rianne and Newman, Hadas and Ntozini, Buhle and Oldak, Monika and Pieterse, Marc and Podhajcer, Osvaldo L. and Puech, Bernard and Ramesar, Raj and Ruether, Klaus and Salameh, Manar and Salles, Mariana Vallim and Sharon, Dror and Simonelli, Francesca and Spital, Georg and Steehouwer, Marloes and Szaflik, Jacek P. and Thompson, Jennifer A. and Thuillier, Caroline and Tracewska, Anna M. and van Zweeden, Martine and Vincent, Andrea L. and Zanlonghi, Xavier and Liskova, Petra and Stoehr, Heidi and Roach, John N. De and Ayuso, Carmen and Roberts, Lisa and Weber, Bernhard H. F. and Dhaenens, Claire-Marie and Cremers, Frans P. M. (2020) Resolving the dark matter of ABCA4 for 1054 Stargardt disease probands through integrated genomics and transcriptomics. GENETICS IN MEDICINE, 22 (7). pp. 1235-1246. ISSN 1098-3600, 1530-0366

Sangermano, Riccardo and Garanto, Alejandro and Khan, Mubeen and Runhart, Esmee H. and Bauwens, Miriam and Bax, Nathalie M. and van den Born, L. Ingeborgh and Khan, Muhammad Imran and Cornelis, Stephanie S. and Verheij, Joke B. G. M. and Pott, Jan-Willem R. and Thiadens, Alberta A. H. J. and Klaver, Caroline C. W. and Puech, Bernard and Meunier, Isabelle and Naessens, Sarah and Arno, Gavin and Fakin, Ana and Carss, Keren J. and Raymond, F. Lucy and Webster, Andrew R. and Dhaenens, Claire-Marie and Stoehr, Heidi and Grassmann, Felix and Weber, Bernhard H. F. and Hoyng, Carel B. and De Baere, Elfride and Albert, Silvia and Collin, Rob W. J. and Cremers, Frans P. M. (2019) Deep-intronic ABCA4 variants explain missing heritability in Stargardt disease and allow correction of splice defects by antisense oligonucleotides. GENETICS IN MEDICINE, 21 (8). pp. 1751-1760. ISSN 1098-3600, 1530-0366

Audo, Isabelle and Bujakowska, Kinga and Orhan, Elise and Poloschek, Charlotte M. and Defoort-Dhellemmes, Sabine and Drumare, Isabelle and Kohl, Susanne and Luu, Tien D. and Lecompte, Odile and Zrenner, Eberhart and Lancelot, Marie-Elise and Antonio, Aline and Germain, Aurore and Michiels, Christelle and Audier, Claire and Letexier, Melanie and Saraiva, Jean-Paul and Leroy, Bart P. and Munier, Francis L. and Mohand-Said, Saddek and Lorenz, Birgit and Friedburg, Christoph and Preising, Markus and Kellner, Ulrich and Renner, Agnes B. and Moskova-Doumanova, Veselina and Berger, Wolfgang and Wissinger, Bernd and Hamel, Christian R. and Schorderet, Daniel F. and De Baere, Elfride and Sharon, Dror and Banin, Eyal and Jacobson, Samuel G. and Bonneau, Dominique and Zanlonghi, Xavier and Le Meur, Guylene and Casteels, Ingele and Koenekoop, Robert and Long, Vernon W. and Meire, Francoise and Prescott, Katrina and de Ravel, Thomy and Simmons, Ian and Nguyen, Hoan and Dollfus, Helene and Poch, Olivier and Leveillard, Thierry and Nguyen-Ba-Charvet, Kim and Sahel, Jose-Alain and Bhattacharya, Shomi S. and Zeitz, Christina (2012) Whole-Exome Sequencing Identifies Mutations in GPR179 Leading to Autosomal-Recessive Complete Congenital Stationary Night Blindness. AMERICAN JOURNAL OF HUMAN GENETICS, 90 (2). pp. 321-330. ISSN 0002-9297

Audo, Isabelle and Kohl, Susanne and Leroy, Bart P. and Munier, Francis L. and Guillonneau, Xavier and Mohand-Said, Saddek and Bujakowska, Kinga and Nandrot, Emeline F. and Lorenz, Birgit and Preising, Markus and Kellner, Ulrich and Renner, Agnes B. and Bernd, Antje and Antonio, Aline and Moskova-Doumanova, Veselina and Lancelot, Marie-Elise and Poloschek, Charlotte M. and Drumare, Isabelle and Defoort-Dhellemmes, Sabine and Wissinger, Bernd and Leveillard, Thierry and Hamel, Christian P. and Schorderet, Daniel F. and De Baere, Elfride and Berger, Wolfgang and Jacobson, Samuel G. and Zrenner, Eberhart and Sahel, Jose-Alain and Bhattacharya, Shomi S. and Zeitz, Christina (2009) TRPM1 Is Mutated in Patients with Autosomal-Recessive Complete Congenital Stationary Night Blindness. AMERICAN JOURNAL OF HUMAN GENETICS, 85 (5). pp. 720-729. ISSN 0002-9297, 1537-6605

De Baere, Elfride and Beysen, Diane and Oley, Christine and Lorenz, Birgit and Cocquet, Julie and De Sutter, Paul and Devriendt, Koen and Dixon, Michael and Fellous, Marc and Fryns, Jean-Pierre and Garza, Arturo and Jonsrud, Christoffer and Koivisto, Pasi A. and Krause, Amanda and Leroy, Bart P. and Meire, Francoise and Plomp, Astrid and Van Maldergem, Lionel and De Paepe, Anne and Veitia, Reiner and Messiaen, Ludwine (2003) FOXL2 and BPES: Mutational hotspots, phenotypic variability, and revision of the genotype-phenotype correlation. AMERICAN JOURNAL OF HUMAN GENETICS, 72 (2). pp. 478-487. ISSN 0002-9297

Other

Albert, Silvia and Sangermano, Riccardo and Garanto, Alejandro and Bauwens, Miriam and Fakin, Ana and Van den Born, Ingeborgh and Webster, Andrew R. and De Baere, Elfride and Stoehr, Heidi and Weber, Bernhard H. F. and Hoyng, Carel C. B. and Collin, Rob W. J. and Cremers, Frans P. (2017) Identification, RNA splice defect assessment and AON correction of non-coding variants of ABCA4 in Stargardt disease. ASSOC RESEARCH VISION OPHTHALMOLOGY INC, ROCKVILLE.