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Bi-allelic variants in HMGCR cause an autosomal-recessive progressive limb-girdle muscular dystrophy.
Morales-Rosado JA, Schwab TL, Macklin-Mantia SK, Foley AR, Pinto E Vairo F, Pehlivan D, Donkervoort S, Rosenfeld JA, Boyum GE, Hu Y, Cong ATQ, Lotze TE, Mohila CA, Saade D, Bharucha-Goebel D, Chao KR, Grunseich C, Bruels CC, Littel HR, Estrella EA, Pais L, Kang PB, Zimmermann MT, Lupski JR, Lee B, Schellenberg MJ, Clark KJ, Wierenga KJ, Bönnemann CG, Klee EW. Morales-Rosado JA, et al. Among authors: pinto e vairo f. Am J Hum Genet. 2023 Jun 1;110(6):989-997. doi: 10.1016/j.ajhg.2023.04.006. Epub 2023 May 10. Am J Hum Genet. 2023. PMID: 37167966 Free PMC article.
Novel de novo variant in EBF3 is likely to impact DNA binding in a patient with a neurodevelopmental disorder and expanded phenotypes: patient report, in silico functional assessment, and review of published cases.
Blackburn PR, Barnett SS, Zimmermann MT, Cousin MA, Kaiwar C, Pinto E Vairo F, Niu Z, Ferber MJ, Urrutia RA, Selcen D, Klee EW, Pichurin PN. Blackburn PR, et al. Among authors: pinto e vairo f. Cold Spring Harb Mol Case Stud. 2017 May;3(3):a001743. doi: 10.1101/mcs.a001743. Cold Spring Harb Mol Case Stud. 2017. PMID: 28487885 Free PMC article.
RNA-Seq detects a SAMD12-EXT1 fusion transcript and leads to the discovery of an EXT1 deletion in a child with multiple osteochondromas.
Oliver GR, Blackburn PR, Ellingson MS, Conboy E, Pinto E Vairo F, Webley M, Thorland E, Ferber M, Van Hul E, van der Werf IM, Wuyts W, Babovic-Vuksanovic D, Klee EW. Oliver GR, et al. Among authors: pinto e vairo f. Mol Genet Genomic Med. 2019 Mar;7(3):e00560. doi: 10.1002/mgg3.560. Epub 2019 Jan 10. Mol Genet Genomic Med. 2019. PMID: 30632316 Free PMC article.
Clinical Applications and Utility of a Precision Medicine Approach for Patients With Unexplained Cytopenias.
Mangaonkar AA, Ferrer A, Pinto E Vairo F, Cousin MA, Kuisle RJ, Gangat N, Hogan WJ, Litzow MR, McAllister TM, Klee EW, Lazaridis KN, Stewart AK, Patnaik MM. Mangaonkar AA, et al. Among authors: pinto e vairo f. Mayo Clin Proc. 2019 Sep;94(9):1753-1768. doi: 10.1016/j.mayocp.2019.04.007. Epub 2019 Jun 27. Mayo Clin Proc. 2019. PMID: 31256854 Free PMC article.
Aetiology and outcomes of secondary myelofibrosis occurring in the context of inherited platelet disorders: A single institutional study of four patients.
Saliba AN, Ferrer A, Gangat N, Pruthi RK, Tefferi A, Higgins A, Bezerra ED, Buglioni A, Salama ME, Klee EW, Pinto E Vairo F, Mangaonkar A, Majerus J, Chen D, Patnaik MM. Saliba AN, et al. Among authors: pinto e vairo f. Br J Haematol. 2020 Sep;190(5):e316-e320. doi: 10.1111/bjh.16897. Epub 2020 Jun 22. Br J Haematol. 2020. PMID: 32567678 Free article. No abstract available.
51 results