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2013 2
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2018 1
2019 1
2022 2
2023 2

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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: pullano v. 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.
IDH2 inhibition enhances proteasome inhibitor responsiveness in hematological malignancies.
Bergaggio E, Riganti C, Garaffo G, Vitale N, Mereu E, Bandini C, Pellegrino E, Pullano V, Omedè P, Todoerti K, Cascione L, Audrito V, Riccio A, Rossi A, Bertoni F, Deaglio S, Neri A, Palumbo A, Piva R. Bergaggio E, et al. Among authors: pullano v. Blood. 2019 Jan 10;133(2):156-167. doi: 10.1182/blood-2018-05-850826. Epub 2018 Nov 19. Blood. 2019. PMID: 30455381 Free article.
Skewed X-chromosome inactivation in unsolved neurodevelopmental disease cases can guide re-evaluation For X-linked genes.
Giovenino C, Trajkova S, Pavinato L, Cardaropoli S, Pullano V, Ferrero E, Sukarova-Angelovska E, Carestiato S, Salmin P, Rinninella A, Battaglia A, Bertoli L, Fadda A, Palermo F, Carli D, Mussa A, Dimartino P, Bruselles A, Froukh T, Mandrile G, Pasini B, De Rubeis S, Buxbaum JD, Pippucci T, Tartaglia M, Rossato M, Delledonne M, Ferrero GB, Brusco A. Giovenino C, et al. Among authors: pullano v. Eur J Hum Genet. 2023 Nov;31(11):1228-1236. doi: 10.1038/s41431-023-01324-w. Epub 2023 Mar 6. Eur J Hum Genet. 2023. PMID: 36879111
Successful treatment with MEK-inhibitor in a patient with NRAS-related cutaneous skeletal hypophosphatemia syndrome.
Carli D, Cardaropoli S, Tessaris D, Coppo P, La Selva R, Cesario C, Lepri FR, Pullano V, Palumbo M, Ramenghi U, Brusco A, Medico E, De Sanctis L, Ferrero GB, Mussa A. Carli D, et al. Among authors: pullano v. Genes Chromosomes Cancer. 2022 Dec;61(12):740-746. doi: 10.1002/gcc.23092. Epub 2022 Sep 19. Genes Chromosomes Cancer. 2022. PMID: 35999193 Free PMC article.