Alfredo Dueñas Rey

Multi-omics profiling, in vitro and in vivo enhancer assays dissect the cis-regulatory mechanisms underlying North Carolina macular dystrophy, a retinal enhanceropathy

C. Rivolta, J. Tena, J. Gómez-Skarmeta, 2022, bioRxiv.

Multi-omics approach dissects cis-regulatory mechanisms underlying North Carolina macular dystrophy, a retinal enhanceropathy

C. Rivolta, J. Tena, J. Gómez-Skarmeta, 2022, American journal of human genetics.

CEP162 deficiency causes human retinal degeneration and reveals a dual role in ciliogenesis and neurogenesis

T. Langmann, H. Stöhr, H. Bolz, 2022, bioRxiv.

Long-Read Sequencing to Unravel Complex Structural Variants of CEP78 Leading to Cone-Rod Dystrophy and Hearing Loss

B. Menten, G. Arno, M. De Bruyne, 2021, Frontiers in Cell and Developmental Biology.

CEP162 deficiency causes human retinal degeneration and reveals a dual role in ciliogenesis and neurogenesis

T. Langmann, H. Stöhr, H. Bolz, 2021, bioRxiv.

Multi-omics analysis in human retina uncovers ultraconserved cis-regulatory elements at rare eye disease loci

E. Baere, F. Coppieters, A. Willaert, 2023, medRxiv.