Research Explorer

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Project

Elucidating the role of cis-regulation and of ultraconserved non-coding elements associated with the choroideremia gene CHM

Outputs & Impact

Publications & research data ( 2 )

New noncoding base pair mutation at the identical locus as the original NCMD/MCDR1 in a Mexican family, suggesting a mutational hotspot

Kent W. SmallStijn Van de SompeleJessica AvetisjanNitin UdarSteven AgemyElfride De BaereFadi S. Shaya

A2 Journal Article in JOURNAL OF VITREORETINAL DISEASES

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

Stijn Van de SompeleKent W. SmallMünevver Burcu CicekdalVictor Lopez SorianoEva D'haeneFadi S. ShayaSteven AgemyThijs Van der SnicktAlfredo Dueñas ReyToon Rosseel et al.

A1 Journal Article in AMERICAN JOURNAL OF HUMAN GENETICS

Activities ( 0 )

Results

Impact narratives ( 0 )

Patents ( 0 )