Stephanie Cornelis 1 – 1 of 1 publication Show 10 5 10 15 20 50 100 250 Sort by year (new to old) Actions Filter publications Download search results Subscribe to news feed Add to list Journal Article A1 open access Compendium of clinical variant classification for 2,246 unique ABCA4 variants to clarify variant pathogenicity in Stargardt disease using a modified ACMG/AMP framework Stephanie Cornelis, Miriam Bauwens (UGent) , Lonneke Haer-Wigman, Marieke De Bruyne (UGent) , Madhulatha Pantrangi, Elfride De Baere (UGent) , Robert B. Hufnagel, Claire-Marie Dhaenens and Frans P. M. Cremers (2023) HUMAN MUTATION. 2023.
