RE-BVS – Piemonte Repository

Sfoglia per RIVISTA
GENETICS IN MEDICINE : OFFICIAL JOURNAL OF THE AMERICAN COLLEGE OF MEDICAL GENETICS
Collezione AOU Città della Salute di Torino

Items : 9

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...

Identification of DNA methylation episignature for the intellectual developmental disorder, autosomal dominant 21 syndrome, caused by variants in the CTCF gene. in Genetics in medicine : official journal of the American College of Medical Genetics / Genet Med. 2024 Mar;26(3):101041. doi: 10.1016/j.gim.2023.101041. Epub 2023 Dec 3.

2024
AOU Città della Salute di Torino

Alders MM; Merla G; Brusco A; Trajkova S; Mussa A; Shukarova-Angelovska E; Carli D; Asaftei SD; Piccione M; Vissers L; Salzano E; Tedder ML; Gerkes EH; Zonneveld-Huijssoon E; Brooks A; Kerkhof J; McConkey H; Levy MA; Haghshenas S; Relator R; Karimi K; Mol MO; Bouman A; Sadikovic B;

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...

DNA methylation episignature and comparative epigenomic profiling of HNRNPU-related neurodevelopmental disorder. in Genetics in medicine : official journal of the American College of Medical Genetics / Genet Med. 2023 Aug;25(8):100871. doi: 10.1016/j.gim.2023.100871. Epub 2023 Apr 28.

2023
AOU Città della Salute di Torino

Sadikovic B; Mannens MMAM; Alders M; Hochstenbach R; Misra-Isrie M; Ferrero GB; Brusco A; Oegema R; Verbeek N; van der Smagt JJ; Volker-Touw CML; de Villemeur TB; Keren B; Terrone G; Mignot C; Brunetti-Pierri N; Levy MA; Vos N; Relator R; Lauffer P; Trajkova S; Haghshenas S; Rooney K; van der Laan L; van Haelst MM; Henneman P;

Digenic inheritance of STUB1 variants and TBP polyglutamine expansions explains the incomplete penetrance of SCA17 and SCA48. in Genetics in medicine : official journal of the American College of Medical Genetics / Genet Med. 2022 Jan;24(1):29-40. doi: 10.1016/j.gim.2021.08.003. Epub 2021 Nov 30.

2022
AOU Città della Salute di Torino

Mariotti C; Bruzzone MG; Brusco A; Cortelli P; Sambati L; Fancellu R; Ricci B; Mongelli A; Rizzo E; Sarto E; Gellera C; Magri S; Nanetti L; Di Bella D; Taroni F;

Correspondence on "Clinical spectrum of MTOR-related hypomelanosis of Ito with neurodevelopmental abnormalities," by Carmignac et al. in Genetics in medicine : official journal of the American College of Medical Genetics / Genet Med. 2021 Nov;23(11):2223-2224. doi: 10.1038/s41436-021-01256-0. Epub 2021 Jul 7.

2021
AOU Città della Salute di Torino

Mussa A; Carli D; Rossi K; Lepore Signorile M; Piglionica M; Ranieri C; Simone C; Lugli L; Grossi V; Resta N; Calabrese O;

When to test fetuses for RASopathies? Proposition from a systematic analysis of 352 multicenter cases and a postnatal cohort. in Genetics in medicine : official journal of the American College of Medical Genetics / Genet Med. 2021 Jun;23(6):1116-1124. doi: 10.1038/s41436-020-01093-7. Epub 2021 Feb 10.

2021
AOU Città della Salute di Torino

Giancotti A; Mattina T; Papi L; Damante G; Mazza T; Radio FC; Pantaleoni F; Versacci P; Mastromoro G; Naretto VG; Grosso E; Zonta A; Donati I; Di Marco C; Romagnoli M; Mangiameli D; Tortora G; Sirchia F; Marozza A; Andreucci E; D'Ambrosio V; Corno S; Daniele P; Pinna V; Di Giosaffatte N; Scott A; Pizzuti A; Laberge AM; Tartaglia M; et alii...

Enhancing rare variant interpretation in inherited arrhythmias through quantitative analysis of consortium disease cohorts and population controls. in Genetics in medicine : official journal of the American College of Medical Genetics / Genet Med. 2021 Jan;23(1):47-58. doi: 10.1038/s41436-020-00946-5. Epub 2020 Sep 7.

2021
AOU San Luigi di Orbassano
AOU Città della Salute di Torino

Bezzina CR; Behr ER; Barc J; Probst V; Ohno S; Redon R; Schott JJ; Aiba T; Shimizu W; Schwartz PJ; Schulze-Bahr E; Makita N; Priori SG; Gimeno JR; Hasdemir C; Guicheney P; Brugada J; Ackerman MJ; Brugada R; Giachino DF; Robyns T; Brugada P; Kääb S; Yoshinaga M; Saenen JB; Nakajima T; Hayashi K; Rydberg A; Borggrefe M; et alii...

Transcription alterations of KCNQ1 associated with imprinted methylation defects in the Beckwith-Wiedemann locus. in Genetics in medicine : official journal of the American College of Medical Genetics / Genet Med. 2019 Aug;21(8):1808-1820. doi: 10.1038/s41436-018-0416-7. Epub 2019 Jan 12.

2019
AOU Città della Salute di Torino

Williams CA; Ferrero GB; Bliek J; Acurzio B; Gabbarini F; Gazzin A; Mussa A; Angelini C; Carli D; Franzese M; Pignata L; Alders M; Frints SGM; Maas SM; Hill-Harfe K; Freschi A; Sparago A; Valente FM; Riccio A; Cerrato F;