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PAVINATO L
Collezione AOU Città della Salute di Torino

  

Items : 19

2025
AOU Città della Salute di Torino

Barzasi M; Spinola A; Costa A; Pavinato L; Brusco A; Marcello E; DiLuca M; Gardoni F;

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;

Expanding the phenotype and genotype spectrum of TAOK1 neurodevelopmental disorder and delineating TAOK2 neurodevelopmental disorder. in Genetics in medicine : official journal of the American College of Medical Genetics / Genet Med. 2025 Mar;27(3):101348. doi: 10.1016/j.gim.2024.101348. Epub 2024 Dec 27.
2025
AOU Città della Salute di Torino

Pang L; Bell L; Uhlman J; Narumanch T; Peron K; Matthews N; Morrison JL; Wheeler PG; Levy RJ; Kortüm F; Low K; Herget T; Lynch SA; Quin S; Cogné B; Kenny J; Isidor B; Green A; Mullegama SV; Bird LM; Bijlsma EK; Andersen CB; Andersen UA; Fagerberg C; Morgan AT; Amor DJ; Atallah I; Campos-Xavier B; Serrano Russi AH; et alii...

Biallelic PI4KA Mutations Disrupt B-Cell Metabolism and Cause B-Cell Lymphopenia and Hypogammaglobulinemia. in Journal of clinical immunology / J Clin Immunol. 2024 Sep 23;45(1):15. doi: 10.1007/s10875-024-01793-8.
2024
AOU Città della Salute di Torino

Saettini F; Guerra F; Mauri M; Salter CG; Adam MP; Adams D; Baple EL; Barredo E; Bhatia S; Borkhardt A; Brusco A; Bugarin C; Chinello C; Crosby AH; D'Souza P; Denti V; Fazio G; Giuliani S; Kuehn HS; Amel H; Elmi A; Lo B; Malighetti F; Mandrile G; Martín-Nalda A; Mefford HC; Moratto D; Emam Mousavi F; Nelson Z; et alii...

Identification of the DNA methylation signature of Mowat-Wilson syndrome. in European journal of human genetics : EJHG / Eur J Hum Genet. 2024 Jun;32(6):619-629. doi: 10.1038/s41431-024-01548-4. Epub 2024 Feb 13.
2024
AOU San Luigi di Orbassano
AOU Città della Salute di Torino

Trajkova S; Zuntini R; Relator R; Haghshenas S; Levy MA; Garavelli L; Sadikovic B; Ferrero GB; Tartaglia M; McConkey H; Zollino M; Pullano V; Brusco A; Pavinato L; Ivanovski I; Fetta A; Sukarova E; Lauzon C; Cordelli DM; Mandrile G; Baldo C; Rooney K; Caraffi SG; van der Laan L;

DNA methylation analysis in patients with neurodevelopmental disorders improves variant interpretation and reveals complexity. in HGG advances / HGG Adv. 2024 Jul 18;5(3):100309. doi: 10.1016/j.xhgg.2024.100309. Epub 2024 May 15.
2024
AOU San Luigi di Orbassano
AOU Città della Salute di Torino

Mussa A; Banka S; Jenkinson S; Metcalfe K; Campbell CM; Sukarova-Angelovska E; Pasini B; Petlichkovski A; McConkey H; Rooney K; Rzasa J; Dimartino P; Pippucci T; Giorgio E; Rinninella A; Pullano V; Cardaropoli S; Carestiato S; Mandrile G; Palermo F; Marinoni R; Carli D; Di Gregorio E; Ferrero E; Giovenino C; Pavinato L; Rossi Sebastiano M; Trajkova S; Kerkhof J; et alii...

RICTOR variants are associated with neurodevelopmental disorders. in European journal of human genetics : EJHG / Eur J Hum Genet. 2024 Dec 30. doi: 10.1038/s41431-024-01774-w.
2024
AOU Città della Salute di Torino

Carapito R; Molitor A; Pavinato L; Skeyni A; Lambert M; Pichot A; Jiang J; Spinnhirny P; Zimmermann L; Boucher P; Chung CWT; Elserafy N; Blair EM; Li D; Elisabeth B; Kotzaeridou U; Karch S; Wagner M; Lunsing RJ; Pfundt R; Boycott KM; Bruel AL; Mau-Them FT; Moutton S; Conti V; Mei D; Cetica V; Guerrini R; Brunet T; et alii...

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...

Spinocerebellar ataxia 38: structure-function analysis shows ELOVL5 G230V is proteotoxic, conformationally altered and a mutational hotspot. in Human genetics / Hum Genet. 2023 Aug;142(8):1055-1076. doi: 10.1007/s00439-023-02572-y. Epub 2023 May 18.
2023
AOU Città della Salute di Torino

Borroni B; Caruso D; Tempia F; Mitro N; Rossi Sebastiano M; Pozzi E; Costanzi C; Hoxha E; Manes M; Tripathy D; Mancini C; Pavinato L; Di Campli A; Moon YA; Ortolan E; Ferrero M; Di Gregorio E; Ferrero E; Basso M; Sallese M; Brusco A;

De novo truncating NOVA2 variants affect alternative splicing and lead to heterogeneous neurodevelopmental phenotypes. in Human mutation / Hum Mutat. 2022 Sep;43(9):1299-1313. doi: 10.1002/humu.24414. Epub 2022 Jun 8.
2022
ASL Città di Torino
AOU Città della Salute di Torino

Striano P; Piton A; Zara F; Charlet-Berguerand N; Saris JJ; Lipska-Zi?tkiewicz BS; Brusco A; Langer T; Schmidts M; Liebelt J; Khan A; Verrotti A; Umair M; Galloni GB; Balagura G; Nobile G; Mancardi MM; Giacomini T; Scudieri P; Uva P; van Slegtenhorst M; Iacomino M; Madia F; de Man SA; Telegrafi A; Pavinato L; Wessels MW; Krygier M; MacLennan SC; 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...

2022
ASL Città di Torino
AOU Città della Salute di Torino

Pavinato L; Platzer K; Keller R; Rosenhahn E; Strehlow V; Trajkova S; Delanne J; Sukarova-Angelovska E; Leiz S; Mau-Them FT; Brugger M; Roser T; Courtin T; Perrin L; Keren B; Agrawal PB; Madden JA; Brownstein CA; Chatron N; Sabatier I; Lesca G; Barakat TS; van Dooren MF; Wilke M; van Slegtenhorst M; Vetro A; England E; Murali CN; Fehr S; 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;

Biallelic PI4KA variants cause a novel neurodevelopmental syndrome with hypomyelinating leukodystrophy. in Brain : a journal of neurology / Brain. 2021 Oct 22;144(9):2659-2669. doi: 10.1093/brain/awab124.
2021
AOU San Luigi di Orbassano
AOU Città della Salute di Torino

Rehm HL; Casasnovas C; Adams DR; de Souza P; Marcé-Grau A; Canonico F; Iascone M; Fossati C; Sala-Coromina J; Rouvet I; Schlüter A; Goizet C; Ruiz M; Michaud V; Chacón A; Barredo E; O'Heir E; O'Leary M; Mandrile G; Pavinato L; Saettini F; Benkirane M; Roubertie A; Raspall-Chaure M; de la Calle I; Planas-Serra L; Vélez-Santamaria V; Rodríguez-Palmero A; Verdura E; et alii...

KCNK18 Biallelic Variants Associated with Intellectual Disability and Neurodevelopmental Disorders Alter TRESK Channel Activity. in International journal of molecular sciences / Int J Mol Sci. 2021 Jun 4;22(11):6064. doi: 10.3390/ijms22116064.
2021
AOU Città della Salute di Torino

Pavinato L; Nematian-Ardestani E; Zonta A; De Rubeis S; Buxbaum J; Mancini C; Bruselles A; Tartaglia M; Pessia M; Tucker SJ; D'Adamo MC; Brusco A;

Expanding the clinical phenotype of the ultra-rare Skraban-Deardorff syndrome: Two novel individuals with WDR26 loss-of-function variants and a literature review. in American journal of medical genetics. Part A / Am J Med Genet A. 2021 Jun;185(6):1712-1720. doi: 10.1002/ajmg.a.62157. Epub 2021 Mar 6.
2021
ASL Città di Torino
AOU Città della Salute di Torino

Brusco A; Keller R; Buxbaum J; Ferrero GB; De Rubeis S; Tartaglia M; Petlichkovski A; Pippucci T; Dimartino P; Radio FC; Bruselles A; Giorgio E; Grosso E; Trajkova S; Pavinato L;

New Insights into Potocki-Shaffer Syndrome: Report of Two Novel Cases and Literature Review. in Brain sciences / Brain Sci. 2020 Oct 28;10(11):788. doi: 10.3390/brainsci10110788.
2020
AOU Città della Salute di Torino

Trajkova S; Di Gregorio E; Ferrero GB; Carli D; Pavinato L; Delplancq G; Kuentz P; Brusco A;