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Dandy-Walker malformation in an individual with ABL1 variant.
Garzon JP, Pardo AC, Raski CR, Prada CE. Garzon JP, et al. Among authors: raski cr. Am J Med Genet A. 2024 Oct;194(10):e63718. doi: 10.1002/ajmg.a.63718. Epub 2024 May 17. Am J Med Genet A. 2024. PMID: 38760987
Aminotransferase trends in propionic acidemia.
Silva MP, Raski CR, Charrow J, Baker JJ, Prada CE. Silva MP, et al. Among authors: raski cr. Am J Med Genet A. 2024 Sep;194(9):e63659. doi: 10.1002/ajmg.a.63659. Epub 2024 May 9. Am J Med Genet A. 2024. PMID: 38722054
Expanding the phenotype of neurofibromatosis type 1 microdeletion syndrome.
Garzon JP, Patete A, Aschbacher-Smith L, Qu'd D, Kelly-Mancuso G, Raski CR, Weisman AG, Hankins M, Sawin M, Kim K, Drackley A, Zeid J, Weaver KN, Hopkin RJ, Saal HM, Charrow J, Schorry E, Listernick R, Simpson BN, Prada CE. Garzon JP, et al. Among authors: raski cr. Am J Med Genet C Semin Med Genet. 2024 Jul 18:e32095. doi: 10.1002/ajmg.c.32095. Online ahead of print. Am J Med Genet C Semin Med Genet. 2024. PMID: 39022906