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AMERICAN JOURNAL OF HUMAN GENETICS
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...

Identification of a robust DNA methylation signature for Fanconi anemia. in American journal of human genetics / Am J Hum Genet. 2023 Nov 2;110(11):1938-1949. doi: 10.1016/j.ajhg.2023.09.014. Epub 2023 Oct 20.

2023
AOU Città della Salute di Torino

Pagliara D; Ciolfi A; Pedace L; Haghshenas S; Ferilli M; Levy MA; Miele E; Nardini C; Cappelletti C; Relator R; Pitisci A; De Vito R; Pizzi S; Kerkhof J; McConkey H; Nazio F; Kant SG; Di Donato M; Agolini E; Matraxia M; Pasini B; Pelle A; Galluccio T; Novelli A; Barakat TS; Andreani M; Rossi F; Mecucci C; Savoia A; et alii...

Variants in the degron of AFF3 are associated with intellectual disability, mesomelic dysplasia, horseshoe kidney, and epileptic encephalopathy. in American journal of human genetics / Am J Hum Genet. 2021 May 6;108(5):857-873. doi: 10.1016/j.ajhg.2021.04.001.

2021
AOU Città della Salute di Torino

Voisin N; Schnur RE; Douzgou S; Hiatt SM; Rustad CF; Brown NJ; Earl DL; Keren B; Levchenko O; Geuer S; Verheyen S; Johnson D; Zarate YA; Han?árová M; Amor DJ; Bebin EM; Blatterer J; Brusco A; Cappuccio G; Charrow J; Chatron N; Cooper GM; Courtin T; Dadali E; Delafontaine J; Del Giudice E; Doco M; Douglas G; Eisenkölbl A; et alii...

The Genetic Landscape and Epidemiology of Phenylketonuria. in American journal of human genetics / Am J Hum Genet. 2020 Aug 6;107(2):234-250. doi: 10.1016/j.ajhg.2020.06.006. Epub 2020 Jul 14.

2020
AOU Città della Salute di Torino

Hillert A; Anikster Y; Belanger-Quintana A; Burlina A; Burton BK; Carducci C; Chiesa AE; Christodoulou J; ?or?evi? M; Desviat LR; Eliyahu A; Evers RAF; Fajkusova L; Feillet F; Bonfim-Freitas PE; Gi?ewska M; Gundorova P; Karall D; Kneller K; Kutsev SI; Leuzzi V; Levy HL; Lichter-Konecki U; Muntau AC; Namour F; Oltarzewski M; Paras A; Perez B; Polak E; et alii...

TMEM199 Deficiency Is a Disorder of Golgi Homeostasis Characterized by Elevated Aminotransferases, Alkaline Phosphatase, and Cholesterol and Abnormal Glycosylation. in American journal of human genetics / Am J Hum Genet. 2016 Feb 4;98(2):322-30. doi: 10.1016/j.ajhg.2015.12.011. Epub 2016 Jan 28.

2016
AOU Città della Salute di Torino

Jansen JC; Timal S; van Scherpenzeel M; Michelakakis H; Vicogne D; Ashikov A; Moraitou M; Hoischen A; Huijben K; Steenbergen G; van den Boogert MA; Porta F; Calvo PL; Mavrikou M; Cenacchi G; van den Bogaart G; Salomon J; Holleboom AG; Rodenburg RJ; Drenth JP; Huynen MA; Wevers RA; Morava E; Foulquier F; Veltman JA; Lefeber DJ;

A Recurrent Mutation in CACNA1G Alters Cav3.1 T-Type Calcium-Channel Conduction and Causes Autosomal-Dominant Cerebellar Ataxia. in American journal of human genetics / Am J Hum Genet. 2015 Nov 5;97(5):726-37. doi: 10.1016/j.ajhg.2015.09.007. Epub 2015 Oct 8.

2015
AOU Città della Salute di Torino

Coutelier M; Blesneac I; Monteil A; Monin ML; Ando K; Mundwiller E; Brusco A; Le Ber I; Anheim M; Castrioto A; Duyckaerts C; Brice A; Durr A; Lory P; Stevanin G;

ELOVL5 mutations cause spinocerebellar ataxia 38. in American journal of human genetics / Am J Hum Genet. 2014 Aug 7;95(2):209-17. doi: 10.1016/j.ajhg.2014.07.001. Epub 2014 Jul 24.

2014
AOU San Luigi di Orbassano
AOU Città della Salute di Torino

Boccone L; Caruso D; Funaro A; Tempia F; Brice A; Durr A; Maillet-Vioud M; Giunti P; Padovani A; Costanzi C; Deleuze JF; Imbert J; Papotti MG; Orsi L; Duregon E; Couarch P; Vaula G; Tesson C; Moon YA; Mitro N; Hoxha E; Mura I; Coviello DA; Calcia A; Gaussen M; Mancini C; Ragusa N; Borroni B; Giorgio E; et alii...