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

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

Research output: Contribution to specialist/vulgarizing publication › Article › Specialist

121 Citations (Scopus)
76 Downloads (Pure)

Fingerprint

Dive into the research topics of 'ABCA4-associated disease as a model for missing heritability in autosomal recessive disorders: novel noncoding splice, cis-regulatory, structural, and recurrent hypomorphic variants'. Together they form a unique fingerprint.

Medicine & Life Sciences