Sfoglia per AUTORE
BRUSCO A
Collezione ASL Città di Torino

  

Items : 11

BRAT1-related disorders: phenotypic spectrum and phenotype-genotype correlations from 97 patients. in European journal of human genetics : EJHG / Eur J Hum Genet. 2023 Sep;31(9):1023-1031. doi: 10.1038/s41431-023-01410-z. Epub 2023 Jun 21.

2023
ASL Città di Torino

Doco-Fenzy M; Denommé-Pichon AS; Di Giacomo MC; Delague V; Danhaive O; Coubes C; Cornet MC; Miryounesi M; Zara F; Lesca G; Yassaee VR; Wagner M; Zaki MS; Villard L; Vitobello A; Valente EM; Venot P; Cilio MR; Accogli A; Agolini E; Alkuraya FS; Baglioni V; Bagnasco I; Becmeur-Lefebvre M; Bertini E; Borggraefe I; Brischoux-Boucher E; Bruel AL; Brusco A; et alii...

Genetic variants in DDX53 contribute to Autism Spectrum Disorder associated with the Xp22.11 locus. in medRxiv : the preprint server for health sciences / medRxiv [Preprint]. 2023 Dec 27:2023.12.21.23300383. doi: 10.1101/2023.12.21.23300383.

2023
AOU Città della Salute di Torino
ASL Città di Torino

Scherer SW; Zara F; Nelson SF; Russell BE; Mullegama SV; Douine ED; Helbig I; Lusk L; McDonnell PP; Parisotto S; Pedro HF; Keller R; Brusco A; Pullano V; Anadiotis G; Granger L; Frankland PW; Ko SY; MacDonald JR; Shum C; Reuter MS; Salazar NB; Howe JL; Trost B; Scala M; Bradley CA;

A Novel PSEN1 Variant Leading to Posterior Cortical Atrophy: A Case Report. in Journal of Alzheimer's disease reports / J Alzheimers Dis Rep. 2023 May 31;7(1):469-473. doi: 10.3233/ADR230023. eCollection 2023.

2023
ASL Città di Torino
AOU Città della Salute di Torino

Rainero I; Rubino E; Brusco A; Pasini B; Dentelli P; Imperiale D; Gallone S; Atzori C; Boschi S; Cermelli A; Ferrandes F; Grassini A; Marcinnò A; Roveta F;

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
AOU Città della Salute di Torino
ASL Città di Torino

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

De novo DHDDS variants cause a neurodevelopmental and neurodegenerative disorder with myoclonus. in Brain : a journal of neurology / Brain. 2022 Mar 29;145(1):208-223. doi: 10.1093/brain/awab299.

2022
ASL Città di Torino
AOU Città della Salute di Torino

Leuzzi V; Grabi?ska KA; Lefeber DJ; Tartaglia M; Hamdan FF; Sessa WC; Zorzi G; Guerrini R; Wheeler PG; Zdrazilova L; Zhang R; Venkateswaran S; Toro C; Verbeek NE; Shinawi M; Pannone L; Pizzi S; Peeden J; Mercier N; Marcelis C; Macnamara E; Kamsteeg EJ; Gripp K; Good JM; Elmslie F; Gan-Or Z; Distelmaier F; Di Bonaventura C; Alaix AS; et alii...

Drosophila functional screening of de novo variants in autism uncovers damaging variants and facilitates discovery of rare neurodevelopmental diseases. in Cell reports / Cell Rep. 2022 Mar 15;38(11):110517. doi: 10.1016/j.celrep.2022.110517.

2022
AOU Città della Salute di Torino
ASL Città di Torino

Yamamoto S; Wangler MF; Rosenfeld JA; Marom R; Brusco A; Pavinato L; Strehlow V; Platzer K; Keller R; Trajkova S; Rosenhahn E; Delanne J; Sukarova-Angelovska E; Leiz S; Mau-Them FT; Perrin L; Brugger M; Roser T; Keren B; Courtin T; Madden JA; Agrawal PB; Brownstein CA; Lesca G; Sabatier I; Chatron N; Barakat TS; van Dooren MF; Wilke M; et alii...

EARLY ONSET CEREBRAL SMALL VESSEL DISEASE DUE TO HETEROZYGOUS HTRA1 MUTATION: A CASE REPORT in Neurological Sciences

2022
ASL Torino 3
ASL Torino 4
ASL Asti
AOU Città della Salute di Torino
AOU Alessandria
ASL Città di Torino

Vaula G; Leombruni S; Romanelli M; Rubino E; Dentelli P; Cerrato P; Della Sala E; Bosco G; Brusco A; Fiume G;

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
AOU Città della Salute di Torino
ASL Città di Torino

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

Family-based whole exome sequencing allows a 25% diagnostic yield in patients with autism spectrum disorder in European Journal of Human Genetics

2020
ASL VCO
AOU Città della Salute di Torino
ASL Città di Torino

Keller R; Pippucci T; Tartaglia M; De Rubeis S; Brusco A; Ferrero GB; Bagnasco I; Zacchetti G; Naretto VG; Gai G; Zonta A; Grosso E; Davico C; Pelle A; Mandrile G; Antona V; Sorasio L; Biamino E; Belligni EF; Rizzo V; Sirchia F; Carli D; Giorgio E; Pavinato L; Riberi E; Dimartino P; Bruselles A; Cardaropoli S; Mussa A; et alii...

Copy number variants analysis in a cohort of isolated and syndromic developmental delay/intellectual disability reveals novel genomic disorders, position effects and candidate disease genes. in Clinical genetics / Clin Genet. 2017 Oct;92(4):415-422. doi: 10.1111/cge.13009. Epub 2017 Jul 25.

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

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

A novel 3q29 deletion associated with autism, intellectual disability, psychiatric disorders, and obesity. in American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics / Am J Med Genet B Neuropsychiatr Genet. 2016 Mar;171B(2):290-9. doi: 10.1002/ajmg.b.32406. Epub 2015

2016
AOU Città della Salute di Torino
ASL Città di Torino

Biamino E; Di Gregorio E; Belligni EF; Keller R; Riberi E; Gandione M; Calcia A; Mancini C; Giorgio E; Cavalieri S; Pappi P; Talarico F; Fea AM; De Rubeis S; Cirillo Silengo M; Ferrero GB; Brusco A;