Interpretation and classification of FBN1 variants associated with Marfan syndrome: consensus recommendations from the Clinical Genome Resource’s FBN1 variant curation expert panel
Andy Drackley, Chris Somerville, Pauline Arnaud, Linnea M. Baudhuin, Nadine Hanna, Michelle L. Kluge, Katrina E. Kotzer, Cathérine Boileau, Lucas Bronicki, Bert Callewaert, Alessandro Cecchi, Hal Dietz, Dongchuan Guo, Stephen Harris, Olga Jarinova, Mark A. Lindsay, Leichelle Little, Bart Loeys, Gretchen MacCarrick, J. Meester, Dianna M. Milewicz, Takayuki Morisaki, Hiroko Morisaki, Daniel Murdock, Marjolijn Renard, Jennifer K. Richer, Leema Robert, Maral Ouzounian, Lut Van Laer, Julie De Backer, Laura Muiño Mosquera (2024). Interpretation and classification of FBN1 variants associated with Marfan syndrome: consensus recommendations from the Clinical Genome Resource’s FBN1 variant curation expert panel. , 16(1), DOI: https://doi.org/10.1186/s13073-024-01423-3.
