Interpretation and classification of FBN1 variants associated with Marfan syndrome: consensus recommendations from the Clinical Genome Resource’s FBN1 variant curation expert panel
Establishing specific adaptations for FBN1 has provided a framework to foster greater classification concordance among clinical laboratories, ultimately improving clinical care for patients with Marfan syndrome.
Authors
- Gretchen MacCarrick (ORCID: https://orcid.org/0000-0003-4286-0693)
- Michelle L. Kluge
- Olga Jarinova (ORCID: https://orcid.org/0000-0001-6148-2240)
- Lut Van Laer
- Bert Callewaert (ORCID: https://orcid.org/0000-0002-9743-4205)
- Jennifer K. Richer (ORCID: https://orcid.org/0000-0002-9960-0991)
- Mark A. Lindsay (ORCID: https://orcid.org/0000-0003-4807-5506)
- Bart Loeys (ORCID: https://orcid.org/0000-0003-3703-9518)
- Leema Robert
- Leichelle Little
- Linnea M. Baudhuin (ORCID: https://orcid.org/0000-0003-4230-5032)
- Nadine Hanna (ORCID: https://orcid.org/0000-0001-5434-3111)
- Cathérine Boileau (ORCID: https://orcid.org/0000-0002-0371-7539)
- Pauline Arnaud (ORCID: https://orcid.org/0000-0001-9727-1592)
- Dongchuan Guo (ORCID: https://orcid.org/0000-0002-7402-3104)
- Hiroko Morisaki (ORCID: https://orcid.org/0000-0002-6956-6374)
- Takayuki Morisaki (ORCID: https://orcid.org/0000-0002-3738-6627)
- Katrina E. Kotzer (ORCID: https://orcid.org/0000-0001-7460-6062)
- Lucas Bronicki
- Marjolijn Renard (ORCID: https://orcid.org/0000-0003-1105-8948)
- Dianna M. Milewicz (ORCID: https://orcid.org/0000-0002-7806-0068)
- Andy Drackley (ORCID: https://orcid.org/0000-0003-1822-1728)
- Julie De Backer (ORCID: https://orcid.org/0000-0001-8878-1507)
- Daniel Murdock
- Chris Somerville (ORCID: https://orcid.org/0000-0003-4647-0094)
- Laura Muiño Mosquera (ORCID: https://orcid.org/0000-0002-3094-7807)
- Hal Dietz
- Stephen Harris (ORCID: https://orcid.org/0000-0002-4422-612X)
- J. Meester
- Maral Ouzounian (ORCID: https://orcid.org/0000-0002-4143-2198)
- Alessandro Cecchi
Institutions
- HOGENT University of Applied Sciences and Arts (BE)
- European Organisation for Rare Diseases (FR)
- Lurie Children's Hospital (US)
- Johns Hopkins University (US)
- University of Antwerp (BE)
- University of Ottawa (CA)
- University of Toronto (CA)
- Guy's and St Thomas' NHS Foundation Trust (GB)
- Université Paris Cité (FR)
- Children's Hospital of Eastern Ontario (CA)
- Johns Hopkins Medicine (US)
- Ghent University Hospital (BE)
- Ghent University (BE)
- Massachusetts General Hospital (US)
- Antwerp University Hospital (BE)
- University of Tokyo Hospital (JP)
- Mayo Clinic in Arizona (US)
- Sakakibara Hospital (JP)
- Hôpital Bichat-Claude-Bernard (FR)
- The University of Texas Health Science Center at Houston (US)
Publication Details
- Journal
- Genome Medicine
- Published
- 2024-12-31
- DOI
- https://doi.org/10.1186/s13073-024-01423-3
- Citations
- 11
- Primary Topic
- Connective tissue disorders research
- Type
- article
- Field-Weighted Citation Impact
- 6.05