Items where Author is "Bauwens, Miriam"

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

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.