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Pitfalls of whole exome sequencing in undefined clinical conditions with a suspected genetic etiology.
Moresco G, Rondinone O, Mauri A, Costanza J, Santaniello C, Colapietro P, Micaglio E, Marfia G, Pesenti C, Grilli F, Rinaldi B, Prada E, Scuvera G, Villa R, Bedeschi MF, Miozzo MR, Milani D, Fontana L. Moresco G, et al. Among authors: milani d. Genes Genomics. 2023 May;45(5):637-655. doi: 10.1007/s13258-022-01341-x. Epub 2022 Dec 1. Genes Genomics. 2023. PMID: 36454368
CATSHL syndrome, a new family and phenotypic expansion.
Cannova S, Meossi C, Grilli F, Milani D, Alberti F, Cesaretti C, Marchisio PG, Crosti F, Pezzani L. Cannova S, et al. Among authors: milani d. Clin Genet. 2024 Mar;105(3):313-316. doi: 10.1111/cge.14455. Epub 2023 Nov 22. Clin Genet. 2024. PMID: 37990933
Interstitial 6q25 microdeletion syndrome: ARID1B is the key gene.
Ronzoni L, Tagliaferri F, Tucci A, Baccarin M, Esposito S, Milani D. Ronzoni L, et al. Among authors: milani d. Am J Med Genet A. 2016 May;170A(5):1257-61. doi: 10.1002/ajmg.a.37553. Epub 2016 Jan 11. Am J Med Genet A. 2016. PMID: 26754677
Correction to: Myoclonic status epilepticus and cerebellar hypoplasia associated with a novel variant in the GRIA3 gene.
Rinaldi B, Ge YH, Freri E, Tucci A, Granata T, Estienne M, Sun JH, Gérard B, Bayat A, Efthymiou S, Gervasini C, Shi YS, Houlden H, Marchisio P, Milani D. Rinaldi B, et al. Among authors: milani d. Neurogenetics. 2022 Jan;23(1):81. doi: 10.1007/s10048-021-00678-x. Neurogenetics. 2022. PMID: 34837146 Free PMC article. No abstract available.
346 results