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Interpretation and classification of FBN1 variants associated with Marfan syndrome: consensus recommendations from the Clinical Genome Resource's FBN1 variant curation expert panel.
Drackley A, Somerville C, Arnaud P, Baudhuin LM, Hanna N, Kluge ML, Kotzer K, Boileau C, Bronicki L, Callewaert B, Cecchi A, Dietz H, Guo D, Harris S, Jarinova O, Lindsay M, Little L, Loeys B, MacCarrick G, Meester J, Milewicz D, Morisaki T, Morisaki H, Murdock D, Renard M, Richer J, Robert L, Ouzounian M, Van Laer L, De Backer J, Muiño-Mosquera L. Drackley A, et al. Among authors: muino mosquera l. Genome Med. 2024 Dec 31;16(1):154. doi: 10.1186/s13073-024-01423-3. Genome Med. 2024. PMID: 39741318 Free PMC article.
Aortic and arterial manifestations and clinical features in TGFB3-related heritable thoracic aortic disease: results from the Montalcino Aortic Consortium.
Lim MS, Guo DC, Velasco Torrez W, Lai A, Schweber J, Garg N, Fleischer J, Boileau C, De Backer J, Evangelista A, Jondeau G, Le Goff C, Milleron O, Muiño-Mosquera L, Morris S, Ouzounian M, Cervi E, Marcadier J, Caffarelli A, Shalhub S, Pyeritz R, Yetman A, Milewicz D, Braverman AC. Lim MS, et al. Among authors: muino mosquera l. J Med Genet. 2024 Dec 9:jmg-2024-110251. doi: 10.1136/jmg-2024-110251. Online ahead of print. J Med Genet. 2024. PMID: 39653386
Mitral Annular Disjunction in Heritable Thoracic Aortic Disease: Insights From the Montalcino Aortic Consortium.
Asokan KL, Landes JR, Renders W, Muiño Mosquera L, De Backer J, Jantzen DW, Yetman AT, Teixido-Tura G, Evangelista A, Jeremy R, Jones EG, Morris S, Doan T, Ouzonian M, Braverman A, Jondeau G, Milleron O, Milewicz DM, Prakash SK; Montalcino Aortic Consortium *. Asokan KL, et al. Among authors: muino mosquera l. J Am Heart Assoc. 2024 Nov 5;13(21):e036274. doi: 10.1161/JAHA.124.036274. Epub 2024 Oct 18. J Am Heart Assoc. 2024. PMID: 39424426 Free article.
Management of aortic disease in children with FBN1-related Marfan syndrome.
Muiño-Mosquera L, Cervi E, De Groote K, Dewals W, Fejzic Z, Kazamia K, Mathur S, Milleron O, Mir TS, Nielsen DG, Odermarsky M, Sabate-Rotes A, van der Hulst A, Valenzuela I, Jondeau G. Muiño-Mosquera L, et al. Eur Heart J. 2024 Oct 14;45(39):4156-4169. doi: 10.1093/eurheartj/ehae526. Eur Heart J. 2024. PMID: 39250726 Free PMC article. Review.
ClinGen Hereditary Cardiovascular Disease Gene Curation Expert Panel: Reappraisal of Genes associated with Hypertrophic Cardiomyopathy.
Hespe S, Waddell A, Asatryan B, Owens E, Thaxton C, Adduru ML, Anderson K, Brown EE, Hoffman-Andrews L, Jordan E, Josephs K, Mayers M, Peters S, Stafford F, Bagnall RD, Bronicki L, Callewaert B, Chahal CAA, James CA, Jarinova O, Landstrom AP, McNally EM, Murray B, Muiño-Mosquera L, Parikh V, Reuter C, Walsh R, Wayburn B, Ware JS, Ingles J. Hespe S, et al. Among authors: muino mosquera l. medRxiv [Preprint]. 2024 Jul 31:2024.07.29.24311195. doi: 10.1101/2024.07.29.24311195. medRxiv. 2024. PMID: 39132495 Free PMC article. Preprint.
Editorial: Rising stars in pediatric cardiology 2023.
Sun L, Muiño-Mosquera L. Sun L, et al. Among authors: muino mosquera l. Front Pediatr. 2024 Jul 10;12:1452884. doi: 10.3389/fped.2024.1452884. eCollection 2024. Front Pediatr. 2024. PMID: 39049846 Free PMC article. No abstract available.
47 results