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Frontiers in Neuroscience|January 22, 2024
A pathogenic variant in the FLCN gene presenting with pure dementia: is autophagy at the intersection between neurodegeneration and cancer?Irene Bottillo, Luigi Laino, Alessia Azzarà, et al.
European Journal of Human Genetics : EJHG|October 8, 2009
High-resolution SNP arrays in mental retardation diagnostics: how much do we gain?Laura Bernardini, Viola Alesi, Sara Loddo, et al.
Polish Archives of Internal Medicine|January 11, 2020
Identification of a variant hotspot in MYBPC3 and of a novel CSRP3 autosomal recessive alteration in a cohort of Polish patients with hypertrophic cardiomyopathyMartina Lipari, Ewa Wypasek, Marek Karpiński, et al.
Gene|December 15, 2015
Molecular analysis of sarcomeric and non-sarcomeric genes in patients with hypertrophic cardiomyopathyIrene Bottillo, Daniela D'Angelantonio, Viviana Caputo, et al.
Cellular Physiology and Biochemistry : International Journal of Experimental Cellular Physiology, Biochemistry, and Pharmacology|December 4, 2017
Functional Characterization of a Novel Truncating Mutation in Lamin A/C Gene in a Family with a Severe Cardiomyopathy with Conduction DefectsAndrea Gerbino, Irene Bottillo, Serena Milano, et al.
European Journal of Human Genetics : EJHG|June 13, 2018
Biallelic variants in the ciliary gene TMEM67 cause RHYNS syndromeFrancesco Brancati, Letizia Camerota, Emma Colao, et al.
Journal of Cellular Physiology|September 25, 2024
An inherited TBX3 alteration in a prenatal case of ulnar-mammary syndrome: Clinical assessment and functional characterization in Drosophila melanogasterIrene Bottillo, Andrea D'Alessandro, Maria Pia Ciccone, et al.
Cancer Letters|March 21, 2021
True conversions from RAS mutant to RAS wild-type in circulating tumor DNA from metastatic colorectal cancer patients as assessed by methylation and mutational signatureChiara Nicolazzo, Ludovic Barault, Salvatore Caponnetto, et al.
Clinical Genetics|May 15, 2024
Identification of seven variants in the col4a1 gene that alter RNA splicing by minigene assayZhi Wang, Yan Sun, Yiyin Zhang, et al.
Scientific Reports|January 12, 2021
Protein-protein interaction network analysis applied to DNA copy number profiling suggests new perspectives on the aetiology of Mayer-Rokitansky-Küster-Hauser syndromePaola Pontecorvi, Laura Bernardini, Anna Capalbo, et al.
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