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American Journal of Medical Genetics. Part A|May 14, 2014
Defining the phenotype associated with microduplication reciprocal to Sotos syndrome microdeletionFrancesca Novara, Franco Stanzial, Elena Rossi, et al.
European Journal of Medical Genetics|February 5, 2017
A case of Feingold type 2 syndrome associated with keratoconus refines keratoconus type 7 locus on chromosome 13qFabio Sirchia, Eleonora Di Gregorio, Gabriella Restagno, et al.
Genes|June 26, 2026
TRAPPC9-Related Intellectual Developmental Disorder: A Systematic Review and a Novel Case of a Complex Structural VariantMarta Calvo, Giuseppe Reynolds, Maria Luca, et al.
Epilepsia|March 2, 2013
Different electroclinical picture of generalized epilepsy in two families with 15q13.3 microdeletionAntonietta Coppola, Irene Bagnasco, Monica Traverso, et al.
American Journal of Medical Genetics. Part A|August 21, 2012
De novo 13q12.3-q14.11 deletion involving BRCA2 gene in a patient with developmental delay, elevated IgM levels, transient ataxia, and cerebellar hypoplasia, mimicking an A-T like phenotypeEmilia Cirillo, Rosa Romano, Alfonso Romano, et al.
Frontiers in Cellular Neuroscience|November 23, 2017
Motor Deficits and Cerebellar Atrophy in Elovl5 Knock Out MiceEriola Hoxha, Rebecca M C Gabriele, Ilaria Balbo, et al.
Journal of the Neurological Sciences|April 16, 2015
Two families with novel missense mutations in COL4A1: When diagnosis can be missedElisa Giorgio, Giovanna Vaula, Giovanni Bosco, et al.
American Journal of Medical Genetics. Part A|April 26, 2016
Whole exome sequencing is necessary to clarify ID/DD cases with de novo copy number variants of uncertain significance: Two proof-of-concept examplesElisa Giorgio, Andrea Ciolfi, Elisa Biamino, et al.
Parkinsonism & Related Disorders|March 14, 2019
Long-term efficacy of docosahexaenoic acid (DHA) for Spinocerebellar Ataxia 38 (SCA38) treatment: An open label extension studyMarta Manes, Antonella Alberici, Eleonora Di Gregorio, et al.
Scientific Reports|November 20, 2020
In vitro dexamethasone treatment does not induce alternative ATM transcripts in cells from Ataxia-Telangiectasia patientsElisa Pozzi, Elisa Giorgio, Cecilia Mancini, et al.
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