Resolving the dark matter of ABCA4 for 1054 Stargardt disease probands through integrated genomics a...
Resolving the dark matter of ABCA4 for 1054 Stargardt disease probands through integrated genomics and transcriptomics
About this item
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Author / Creator
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.
Publisher
New York: Nature Publishing Group US
Journal title
Language
English
Formats
Publication information
Publisher
New York: Nature Publishing Group US
Subjects
More information
Scope and Contents
Contents
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-like probands.
Methods
Sequencing of the complete 128-kb
ABCA4
gene was perform...
Alternative Titles
Full title
Resolving the dark matter of ABCA4 for 1054 Stargardt disease probands through integrated genomics and transcriptomics
Authors, Artists and Contributors
Author / Creator
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
Cremers, Frans P. M.
Identifiers
Primary Identifiers
Record Identifier
TN_cdi_hal_primary_oai_HAL_hal_04960354v1
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_hal_primary_oai_HAL_hal_04960354v1
Other Identifiers
ISSN
1098-3600
E-ISSN
1530-0366
DOI
10.1038/s41436-020-0787-4
