Entries of Defoort, Sabine on the publication server
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Number of items: 2.
2020
Khan, Mubeen, Cornelis, Stéphanie S., Pozo-Valero, Marta Del, Whelan, Laura, Runhart, Esmee H., Mishra, Ketan 
, Bults, Femke, AlSwaiti, Yahya, AlTalbishi, Alaa, De Baere, Elfride, Banfi, Sandro, Banin, Eyal, Bauwens, Miriam, Ben-Yosef, Tamar, Boon, Camiel J. F., van den Born, L. Ingeborgh, Defoort, Sabine, Devos, Aurore, Dockery, Adrian , Dudakova, Lubica , Fakin, Ana, Farrar, G. Jane, Sallum, Juliana Maria Ferraz, Fujinami, Kaoru, Gilissen, Christian , Glavač, Damjan, Gorin, Michael B., Greenberg, Jacquie, Hayashi, Takaaki, Hettinga, Ymkje M., Hoischen, Alexander , Hoyng, Carel B., Hufendiek, Karsten, Jägle, Herbert, Kamakari, Smaragda, Karali, Marianthi, Kellner, Ulrich, Klaver, Caroline C. W., Kousal, Bohdan , Lamey, Tina M., MacDonald, Ian M., Matynia, Anna, McLaren, Terri L., Mena, Marcela D. , Meunier, Isabelle, Miller, Rianne, Newman, Hadas, Ntozini, Buhle, Oldak, Monika , Pieterse, Marc, Podhajcer, Osvaldo L., Puech, Bernard, Ramesar, Raj, Rüther, Klaus, Salameh, Manar, Salles, Mariana Vallim, Sharon, Dror, Simonelli, Francesca, Spital, Georg, Steehouwer, Marloes, Szaflik, Jacek P., Thompson, Jennifer A., Thuillier, Caroline, Tracewska, Anna M. , van Zweeden, Martine, Vincent, Andrea L., Zanlonghi, Xavier, Liskova, Petra , Stöhr, Heidi, Roach, John N. De, Ayuso, Carmen, Roberts, Lisa , Weber, Bernhard H. F., 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.
Fulltext not available.
, Bults, Femke, AlSwaiti, Yahya, AlTalbishi, Alaa, De Baere, Elfride, Banfi, Sandro, Banin, Eyal, Bauwens, Miriam, Ben-Yosef, Tamar, Boon, Camiel J. F., van den Born, L. Ingeborgh, Defoort, Sabine, Devos, Aurore, Dockery, Adrian , Dudakova, Lubica , Fakin, Ana, Farrar, G. Jane, Sallum, Juliana Maria Ferraz, Fujinami, Kaoru, Gilissen, Christian , Glavač, Damjan, Gorin, Michael B., Greenberg, Jacquie, Hayashi, Takaaki, Hettinga, Ymkje M., Hoischen, Alexander , Hoyng, Carel B., Hufendiek, Karsten, Jägle, Herbert, Kamakari, Smaragda, Karali, Marianthi, Kellner, Ulrich, Klaver, Caroline C. W., Kousal, Bohdan , Lamey, Tina M., MacDonald, Ian M., Matynia, Anna, McLaren, Terri L., Mena, Marcela D. , Meunier, Isabelle, Miller, Rianne, Newman, Hadas, Ntozini, Buhle, Oldak, Monika , Pieterse, Marc, Podhajcer, Osvaldo L., Puech, Bernard, Ramesar, Raj, Rüther, Klaus, Salameh, Manar, Salles, Mariana Vallim, Sharon, Dror, Simonelli, Francesca, Spital, Georg, Steehouwer, Marloes, Szaflik, Jacek P., Thompson, Jennifer A., Thuillier, Caroline, Tracewska, Anna M. , van Zweeden, Martine, Vincent, Andrea L., Zanlonghi, Xavier, Liskova, Petra , Stöhr, Heidi, Roach, John N. De, Ayuso, Carmen, Roberts, Lisa , Weber, Bernhard H. F., 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.
Fulltext not available.
2019
Khan, Mubeen, Cornelis, Stéphanie S., Khan, Muhammad Imran, Elmelik, Duaa, Manders, Eline, Bakker, Sem, Derks, Ronny, Neveling, Kornelia, Vorst, Maartje, Gilissen, Christian, Meunier, Isabelle, Defoort, Sabine, Puech, Bernard, Devos, Aurore, Schulz, Heidi L., Stöhr, Heidi, Grassmann, Felix , Weber, Bernhard H. F., Dhaenens, Claire‐Marie and Cremers, Frans P. M.
(2019)
Cost‐effective molecular inversion probe‐based ABCA4 sequencing reveals deep‐intronic variants in Stargardt disease.
Human Mutation 40 (10), pp. 1749-1759.
Fulltext not available.
, Weber, Bernhard H. F., Dhaenens, Claire‐Marie and Cremers, Frans P. M.
(2019)
Cost‐effective molecular inversion probe‐based ABCA4 sequencing reveals deep‐intronic variants in Stargardt disease.
Human Mutation 40 (10), pp. 1749-1759.
Fulltext not available.