Resolving the dark matter of ABCA4 for 1054 Stargardt disease probands through integrated genomics and transcriptomics

Autor: Khan, Mubeen ^{1, 2}, Cornelis, Stéphanie S. ^{1, 2}, De Pozo-Valero, Marta l ^{1, 3}, Whelan, Laura ⁴, Runhart, Esmee H. ^{2, 5}, Mishra, Ketan ^{1, 2}, Bults, Femke ¹, AlSwaiti, Yahya ⁶, AlTalbishi, Alaa ⁶, De Baere, Elfride ⁷, Banfi, Sandro ⁸, Banin, Eyal ⁹, Bauwens, Miriam ⁷, Ben-Yosef, Tamar ¹⁰, Boon, Camiel J.F. ^{11, 12}, van den Born, L. Ingeborgh ^{13, 14}, Defoort, Sabine ¹⁵, Devos, Aurore ¹⁶, Dockery, Adrian ⁴, Dudakova, Lubica ¹⁷, Fakin, Ana ¹⁸, Farrar, G. Jane ⁴, Sallum, Juliana Maria Ferraz ^{19, 20}, Fujinami, Kaoru ^{21, 22, 23, 24}, Gilissen, Christian ^{1, 25}, Glavač, Damjan ²⁶, Gorin, Michael B. ^{27, 28}, Greenberg, Jacquie ²⁹, Hayashi, Takaaki ³⁰, Hettinga, Ymkje M. ³¹, Hoischen, Alexander ¹, Hoyng, Carel B. ^{2, 5}, Hufendiek, Karsten ³², Jägle, Herbert ³³, Kamakari, Smaragda ³⁴, Karali, Marianthi ⁸, Kellner, Ulrich ^{35, 36}, Klaver, Caroline C.W. ^{5, 37, 38}, Kousal, Bohdan ^{17, 39}, Lamey, Tina M. ^{40, 41}, MacDonald, Ian M. ⁴², Matynia, Anna ^{27, 28}, McLaren, Terri L. ^{40, 41}, Mena, Marcela D. ⁴³, Meunier, Isabelle ⁴⁴, Miller, Rianne ¹, Newman, Hadas ^{45, 46}, Ntozini, Buhle ²⁹, Oldak, Monika ⁴⁷, Pieterse, Marc ¹, Podhajcer, Osvaldo L. ⁴³, Puech, Bernard ¹⁵, Ramesar, Raj ²⁹, Rüther, Klaus ⁴⁸, Salameh, Manar ⁶, Salles, Mariana Vallim ^{19, 20}, Sharon, Dror ⁹, Simonelli, Francesca ⁴⁹, Spital, Georg ⁵⁰, Steehouwer, Marloes ¹, Szaflik, Jacek P. ⁵¹, Thompson, Jennifer A. ⁴¹, Thuillier, Caroline ⁵², Tracewska, Anna M. ⁵³, van Zweeden, Martine ¹, Vincent, Andrea L. ^{54, 55}, Zanlonghi, Xavier ⁵⁶, Liskova, Petra ^{17, 39}, Stöhr, Heidi ⁵⁷, De Roach, John N. ^{40, 41}, Ayuso, Carmen ³, Roberts, Lisa ²⁹, Weber, Bernhard H.F. ⁵⁷, Dhaenens, Claire‐Marie ^{1, 16}, Cremers, Frans P.M. ^{1, 2}

Publikováno v: In Genetics in Medicine July 2020 22(7):1235-1246

Resolving the dark matter of ABCA4 for 1054 Stargardt disease probands through integrated genomics and transcriptomics

Autor: Ymkje M. Hettinga, Karsten Hufendiek, Jacek P. Szaflik, Ian M. MacDonald, Isabelle Meunier, Marcela D. Mena, Kaoru Fujinami, Mubeen Khan, Eyal Banin, Elfride De Baere, G. Jane Farrar, Adrian Dockery, Rianne Miller, Tamar Ben-Yosef, Manar Salameh, L. Ingeborgh van den Born, Anna M Tracewska, Sandro Banfi, Caroline C W Klaver, John N. De Roach, Carmen Ayuso, Sabine Defoort, Damjan Glavač, Ulrich Kellner, Juliana Maria Ferraz Sallum, Claire-Marie Dhaenens, Stéphanie S. Cornelis, Bernhard H. F. Weber, Klaus Rüther, Jennifer A. Thompson, Bernard Puech, Raj Ramesar, Aurore Devos, Lisa Roberts, Herbert Jägle, Osvaldo L. Podhajcer, Hadas Newman, Bohdan Kousal, Femke Bults, Marta Del Pozo-Valero, Marc Pieterse, Laura Whelan, Xavier Zanlonghi, Alaa AlTalbishi, Francesca Simonelli, Marloes Steehouwer, Caroline Thuillier, Frans P.M. Cremers, Andrea L Vincent, Smaragda Kamakari, Ana Fakin, Anna Matynia, Dror Sharon, Ketan Mishra, Mariana Vallim Salles, Heidi Stöhr, Miriam Bauwens, Petra Liskova, Esmee H. Runhart, Buhle Ntozini, Georg Spital, Carel B. Hoyng, Takaaki Hayashi, Terri L. McLaren, Martine van Zweeden, Lubica Dudakova, Camiel J. F. Boon, Christian Gilissen, Jacquie Greenberg, Monika Ołdak, Tina M. Lamey, Yahya AlSwaiti, Alexander Hoischen, Marianthi Karali, Michael B. Gorin

Publikováno v: Genetics in Medicine
Genetics in medicine, 22(7), 1235-1246. Lippincott Williams and Wilkins
Genetics in Medicine, 22, 7, pp. 1235-1246
GENETICS IN MEDICINE
Genetics in Medicine, 22(7), 1235-1246. Lippincott Williams & Wilkins
CONICET Digital (CONICET)
Consejo Nacional de Investigaciones Científicas y Técnicas
instacron:CONICET
Genetics in Medicine, 22(7), 1235-1246. NATURE PUBLISHING GROUP
Genetics in Medicine, 22, 1235-1246

Purpose: Missing heritability in human diseases represents a major challenge, and this is particularly true for ABCA4-associated Stargardt disease (STGD1). We aimed to elucidate the genomic and transcriptomic variation in 1054 unsolved STGD and STGD-

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2e3bc891c1991aee449da207a212dba0