Sfoglia per AUTORE
BUXBAUM JD
Collezione AOU Città della Salute di Torino

  

Items : 7

Skipping of Exon 20 in EP300: A Novel Variant Linked to Rubinstein-Taybi Syndrome With Atypical and Severe Clinical Manifestations. in Clinical genetics / Clin Genet. 2025 Mar;107(3):354-358. doi: 10.1111/cge.14654. Epub 2024 Nov 27.
2025
AO Cuneo
AOU San Luigi di Orbassano
AOU Città della Salute di Torino

Ferrero GB; Brusco A; Buxbaum JD; Tartaglia M; Sadikovic B; De Rubeis S; Cardaropoli S; Bruselles A; Balzo M; Todd E; Rzasa J; McConkey H; Kerkhof J; De Sanctis L; Mantovani G; Sorasio L; Carestiato S; Trajkova S; Pavinato L;

Missense variants in RPH3A cause defects in excitatory synaptic function and are associated with a clinically variable neurodevelopmental disorder. in Genetics in medicine : official journal of the American College of Medical Genetics / Genet Med. 2023 Nov;25(11):100922. doi: 10.1016/j.gim.2023.100922. Epub 2023 Jul 1.
2023
AOU Città della Salute di Torino

Smedley D; Buxbaum JD; De Rubeis S; Tartaglia M; Cardaropoli S; Bruselles A; Kaiyrzhanov R; Chand P; Efthymiou S; Sisodiya SM; Vestito L; Kelley WV; Hiatt SM; Spada M; Biamino E; Marcantoni A; Di Luca M; Costa A; Cipriani V; Eberini I; Palazzolo L; Chiantia G; Gurgone A; Barzasi M; Stanic J; Pavinato L; Ferrero GB; Giustetto M; Gardoni F; et alii...

Skewed X-chromosome inactivation in unsolved neurodevelopmental disease cases can guide re-evaluation For X-linked genes. in European journal of human genetics : EJHG / Eur J Hum Genet. 2023 Nov;31(11):1228-1236. doi: 10.1038/s41431-023-01324-w. Epub 2023 Mar 6.
2023
AOU San Luigi di Orbassano
AOU Città della Salute di Torino

Ferrero GB; Delledonne M; Rossato M; Tartaglia M; Pippucci T; De Rubeis S; Buxbaum JD; Pasini B; Mandrile G; Bruselles A; Froukh T; Dimartino P; Mussa A; Palermo F; Carli D; Battaglia A; Bertoli L; Fadda A; Rinninella A; Salmin P; Carestiato S; Sukarova-Angelovska E; Ferrero E; Brusco A; Pullano V; Cardaropoli S; Pavinato L; Trajkova S; Giovenino C; et alii...

CAPRIN1 haploinsufficiency causes a neurodevelopmental disorder with language impairment, ADHD and ASD. in Brain : a journal of neurology / Brain. 2023 Feb 13;146(2):534-548. doi: 10.1093/brain/awac278.
2023
AOU Città della Salute di Torino

Pavinato L; Delle Vedove A; Carli D; Ferrero M; Carestiato S; Howe JL; Agolini E; Coviello DA; van de Laar I; Au PYB; Di Gregorio E; Fabbiani A; Croci S; Mencarelli MA; Bruno LP; Renieri A; Veltra D; Sofocleous C; Faivre L; Mazel B; Safraou H; Denommé-Pichon AS; van Slegtenhorst MA; Giesbertz N; van Jaarsveld RH; Childers A; Rogers RC; Novelli A; De Rubeis S; et alii...

Rare coding variation provides insight into the genetic architecture and phenotypic context of autism. in Nature genetics / Nat Genet. 2022 Sep;54(9):1320-1331. doi: 10.1038/s41588-022-01104-0. Epub 2022 Aug 18.
2022
AOU Città della Salute di Torino

Fu JM; Satterstrom FK; Peng M; Brand H; Collins RL; Dong S; Wamsley B; Klei L; Wang L; Hao SP; Stevens CR; Cusick C; Babadi M; Banks E; Collins B; Dodge S; Gabriel SB; Gauthier L; Lee SK; Liang L; Ljungdahl A; Mahjani B; Sloofman L; Smirnov AN; Barbosa M; Betancur C; Brusco A; Chung BHY; Cook EH; et alii...

Functional analysis of TLK2 variants and their proximal interactomes implicates impaired kinase activity and chromatin maintenance defects in their pathogenesis. in Journal of medical genetics / J Med Genet. 2022 Feb;59(2):170-179. doi: 10.1136/jmedgenet-2020-107281. Epub 2020 Dec 15.
2022
AOU Città della Salute di Torino

Ferrero GB; Buxbaum JD; Dimartino P; De Rubeis S; Colson C; Ranguin K; Giuffrè M; Antona V; Radio FC; Giorgio E; Carli D; Prota V; Pippucci T; Bruselles A; Ciolfi A; Arauz-Garofalo G; Vilaseca M; Gay M; Andreoli C; Sanchiz-Calvo M; Pavinato L; Villamor-Payà M; Tartaglia M; Martinelli S; Stracker TH; Brusco A;

2017
AO Cuneo
AOU San Luigi di Orbassano
AOU Città della Salute di Torino

De Rubeis S; Pasini B; Grosso E; Buxbaum JD; Cirillo Silengo M; Provero P; De Marchi M; Restagno G; Pelle A; Giachino DF; Savin E; Gandione M; Brussino A; Ferrero M; Mancini C; Giorgio E; Cavalieri S; Talarico F; Pappi P; Zacchetti G; Zonta A; Ungari S; Sirchia F; Sorasio L; Naretto VG; Maffè A; Arduino C; Mandrile G; Keller R; et alii...