RE-BVS – Piemonte Repository

Sfoglia per AUTORE
KELLER R
Collezione AOU Città della Salute di Torino

Items : 7

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...

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;

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
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...

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;

Autism Spectrum Disorder from the Womb to Adulthood: Suggestions for a Paradigm Shift. in Journal of personalized medicine / J Pers Med. 2021 Jan 25;11(2):70. doi: 10.3390/jpm11020070.

2021
ASL Città di Torino
AOU Città della Salute di Torino

Toso T; Stoccoro A; Saresella M; Piras C; Perotti M; Pasin V; Parmeggiani A; Mussap M; Moscone D; Moderato L; Migliore L; Marini M; Manzotti A; Keller R; Grossi E; Ghezzo A; Giovannini N; Croce L; Ferreri C; Clerici M; Chiara A; Burgio E; Brunero M; Bolotta A; Biava PM; Balzola F; Abruzzo PM; Guerini FR; Panisi C; 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
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...

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

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