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Journal of Medical Genetics|June 11, 2013
A de novo X;8 translocation creates a PTK2-THOC2 gene fusion with THOC2 expression knockdown in a patient with psychomotor retardation and congenital cerebellar hypoplasiaEleonora Di Gregorio, Federico T Bianchi, Alfonso Schiavi, et al.Neurobiology of Disease|November 4, 2018
Mice harbouring a SCA28 patient mutation in AFG3L2 develop late-onset ataxia associated with enhanced mitochondrial proteotoxicityCecilia Mancini, Eriola Hoxha, Luisa Iommarini, et al.HGG Advances|May 16, 2024
DNA methylation analysis in patients with neurodevelopmental disorders improves variant interpretation and reveals complexitySlavica Trajkova, Jennifer Kerkhof, Matteo Rossi Sebastiano, et al.American Journal of Human Genetics|July 29, 2014
ELOVL5 mutations cause spinocerebellar ataxia 38Eleonora Di Gregorio, Barbara Borroni, Elisa Giorgio, et al.Human Mutation|May 8, 2013
Analysis of LMNB1 duplications in autosomal dominant leukodystrophy provides insights into duplication mechanisms and allele-specific expressionElisa Giorgio, Harshvardhan Rolyan, Laura Kropp, et al.Brain : a Journal of Neurology|August 18, 2022
CAPRIN1 haploinsufficiency causes a neurodevelopmental disorder with language impairment, ADHD and ASDLisa Pavinato, Andrea Delle Vedove, Diana Carli, et al.American Journal of Medical Genetics. Part A|July 29, 2022
Identifying phenotypic expansions for congenital diaphragmatic hernia plus (CDH+) using DECIPHER dataAmy Hardcastle, Aliska M Berry, Ian M Campbell, et al.Plos Genetics|July 23, 2011
Molecular mechanisms generating and stabilizing terminal 22q13 deletions in 44 subjects with Phelan/McDermid syndromeMaria Clara Bonaglia, Roberto Giorda, Silvana Beri, et al.Pageof 4