Sfoglia per AUTORE
ZARA F
Collezione AOU Città della Salute di Torino

  

Items : 6

Genetic variants in DDX53 contribute to autism spectrum disorder associated with the Xp22.11 locus. in American journal of human genetics / Am J Hum Genet. 2025 Jan 2;112(1):154-167. doi: 10.1016/j.ajhg.2024.11.003. Epub 2024 Dec 19.
2025
ASL Città di Torino
AOU Città della Salute di Torino

Scherer SW; Simone L; Zara F; Russell BE; Nelson SF; Graziano C; Schwab M; Corona RI; Mullegama SV; Douine ED; Helbig I; McDonnell PP; Lusk L; Pedro HF; Parisotto S; Keller R; Pullano V; Brusco A; Granger L; Anadiotis G; Charlebois J; Elsabbagh M; MacDonald JR; Ko SY; Frankland PW; Anagnostou E; Reuter MS; Mendes M; Trost B; et alii...

Variant-specific pathophysiological mechanisms of AFF3 differently influence transcriptome profiles. in Genome medicine / Genome Med. 2024 May 30;16(1):72. doi: 10.1186/s13073-024-01339-y.
2024
AOU Città della Salute di Torino

Bassani S; Chrast J; Ambrosini G; Voisin N; Schütz F; Brusco A; Sirchia F; Turban L; Schubert S; Abou Jamra R; Schlump JU; DeMille D; Bayrak-Toydemir P; Nelson GR; Wong KN; Duncan L; Mosera M; Gilissen C; Vissers LELM; Pfundt R; Kersseboom R; Yttervik H; Hansen GÅM; Smeland MF; Butler KM; Lyons MJ; Carvalho CMB; Zhang C; Lupski JR; et alii...

Variant-specific pathophysiological mechanisms of AFF3 differently influence transcriptome profiles. in medRxiv : the preprint server for health sciences / medRxiv [Preprint]. 2024 Jan 17:2024.01.14.24301100. doi: 10.1101/2024.01.14.24301100.
2024
AOU Città della Salute di Torino

Bassani S; Chrast J; Ambrosini G; Voisin N; Schütz F; Brusco A; Sirchia F; Turban L; Schubert S; Jamra RA; Schlump JU; DeMille D; Bayrak-Toydemir P; Nelson GR; Wong KN; Duncan L; Mosera M; Gilissen C; Vissers LELM; Pfundt R; Kersseboom R; Yttervik H; Hansen GÅM; Falkenberg Smeland M; Butler KM; Lyons MJ; Carvalho CMB; Zhang C; Lupski JR; 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
ASL Città di Torino
AOU Città della Salute di Torino

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

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...

An integrated approach to the evaluation of patients with asymptomatic or minimally symptomatic hyperCKemia. in Muscle & nerve / Muscle Nerve. 2022 Jan;65(1):96-104. doi: 10.1002/mus.27448. Epub 2021 Nov 8.
2022
ASL Alessandria
AOU Città della Salute di Torino

Fiorillo C; Grandis M; Mandich P; Bruno C; Schenone A; Rota E; Minetti C; Origone P; Iodice R; Pisciotta L; Zara F; Patrone S; Gallone S; Mongini T; Ruggiero L; Prada V; Fabbri S; Scarsi E; Carlini B; Trevisan L; Gemelli C; Traverso M;