ABCA4-associated disease as a model for missing heritability in autosomal recessive disorders : novel noncoding splice, cis-regulatory, structural, and recurrent hypomorphic variants

Bauwens, Miriam; Garanto, Alejandro; Sangermano, Riccardo; Naessens, Sarah; Weisschuh, Nicole; De Zaeytijd, Julie; Khan, Mubeen; Sadler, Francoise; Balikova, Irina; Van Cauwenbergh, Caroline; Rosseel, Toon; Bauwens, Jim; De Leeneer, Kim; De Jaegere, Sarah; Van Laethem, Thalia; De Vries, Meindert; Carss, Keren; Arno, Gavin; Fakin, Ana; Webster, Andrew R.; de l'Argentiere, Thomy J. L. de Ravel; Sznajer, Yves; Vuylsteke, Marnik; Kohl, Susanne; Wissinger, Bernd; Cherry, Timothy; Collin, Rob W. J.; Cremers, Frans P. M.; Leroy, Bart P.; De Baere, Elfride

ABCA4-associated disease as a model for missing heritability in autosomal recessive disorders : novel noncoding splice, cis-regulatory, structural, and recurrent hypomorphic variants

Author:

Bauwens, Miriam; Garanto, Alejandro; Sangermano, Riccardo; Naessens, Sarah; Weisschuh, Nicole; De Zaeytijd, Julie; Khan, Mubeen; Sadler, Francoise; Balikova, Irina; Van Cauwenbergh, Caroline; Rosseel, Toon; Bauwens, Jim; De Leeneer, Kim; De Jaegere, Sarah; Van Laethem, Thalia; De Vries, Meindert; Carss, Keren; Arno, Gavin; Fakin, Ana; Webster, Andrew R.; de l'Argentiere, Thomy J. L. de Ravel; Sznajer, Yves; Vuylsteke, Marnik; Kohl, Susanne; Wissinger, Bernd; Cherry, Timothy; Collin, Rob W. J.; Cremers, Frans P. M.; Leroy, Bart P.; De Baere, Elfride

Tübinger Autor(en):

Weisschuh, Nicole
Kohl, Susanne
Wissinger, Bernd
Sadler, Françoise

Published in:

Genetics in Medicine (2019), Bd. 21, H. 8, S. 1761-1771

Verlagsangabe:

Nature Publishing Group

Language:

English

Full text:

http://dx.doi.org/10.1038/s41436-018-0420-y

ISSN:

1530-0366