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Page 1
Deleterious, protein-altering variants in the transcriptional coregulator ZMYM3 in 27 individuals with a neurodevelopmental delay phenotype.
Hiatt SM, Trajkova S, Sebastiano MR, Partridge EC, Abidi FE, Anderson A, Ansar M, Antonarakis SE, Azadi A, Bachmann-Gagescu R, Bartuli A, Benech C, Berkowitz JL, Betti MJ, Brusco A, Cannon A, Caron G, Chen Y, Cochran ME, Coleman TF, Crenshaw MM, Cuisset L, Curry CJ, Darvish H, Demirdas S, Descartes M, Douglas J, Dyment DA, Elloumi HZ, Ermondi G, Faoucher M, Farrow EG, Felker SA, Fisher H, Hurst ACE, Joset P, Kelly MA, Kmoch S, Leadem BR, Lyons MJ, Macchiaiolo M, Magner M, Mandrile G, Mattioli F, McEown M, Meadows SK, Medne L, Meeks NJL, Montgomery S, Napier MP, Natowicz M, Newberry KM, Niceta M, Noskova L, Nowak CB, Noyes AG, Osmond M, Prijoles EJ, Pugh J, Pullano V, Quélin C, Rahimi-Aliabadi S, Rauch A, Redon S, Reymond A, Schwager CR, Sellars EA, Scheuerle AE, Shukarova-Angelovska E, Skraban C, Stolerman E, Sullivan BR, Tartaglia M, Thiffault I, Uguen K, Umaña LA, van Bever Y, van der Crabben SN, van Slegtenhorst MA, Waisfisz Q, Washington C, Rodan LH, Myers RM, Cooper GM. Hiatt SM, et al. Among authors: sebastiano mr. Am J Hum Genet. 2023 Feb 2;110(2):215-227. doi: 10.1016/j.ajhg.2022.12.007. Epub 2022 Dec 30. Am J Hum Genet. 2023. PMID: 36586412 Free PMC article.
Designing Soluble PROTACs: Strategies and Preliminary Guidelines.
García Jiménez D, Rossi Sebastiano M, Vallaro M, Mileo V, Pizzirani D, Moretti E, Ermondi G, Caron G. García Jiménez D, et al. Among authors: rossi sebastiano m. J Med Chem. 2022 Oct 13;65(19):12639-12649. doi: 10.1021/acs.jmedchem.2c00201. Epub 2022 Apr 25. J Med Chem. 2022. PMID: 35469399 Free PMC article.
Are we ready to design oral PROTACs®?
Jimenez DG, Sebastiano MR, Caron G, Ermondi G. Jimenez DG, et al. Among authors: sebastiano mr. ADMET DMPK. 2021 Aug 31;9(4):243-254. doi: 10.5599/admet.1037. eCollection 2021. ADMET DMPK. 2021. PMID: 35300370 Free PMC article.
Spinocerebellar ataxia 38: structure-function analysis shows ELOVL5 G230V is proteotoxic, conformationally altered and a mutational hotspot.
Ferrero E, Di Gregorio E, Ferrero M, Ortolan E, Moon YA, Di Campli A, Pavinato L, Mancini C, Tripathy D, Manes M, Hoxha E, Costanzi C, Pozzi E, Rossi Sebastiano M, Mitro N, Tempia F, Caruso D, Borroni B, Basso M, Sallese M, Brusco A. Ferrero E, et al. Among authors: rossi sebastiano m. Hum Genet. 2023 Aug;142(8):1055-1076. doi: 10.1007/s00439-023-02572-y. Epub 2023 May 18. Hum Genet. 2023. PMID: 37199746 Free PMC article.
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