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Methods in Molecular Biology (Clifton, N.J.)|February 22, 2023
Mitochondrial DNA Sequencing and Heteroplasmy Quantification by Next Generation SequencingAndrea Legati, Daniele Ghezzi, Carlo ViscomiPsychiatry and Clinical Neurosciences|September 12, 2014
First Japanese family with primary familial brain calcification due to a mutation in the PDGFB gene: an exome analysis studyTeruo Hayashi, Andrea Legati, Tadashi Nishikawa, et al.Bioinformatics (Oxford, England)|April 19, 2018
GARFIELD-NGS: Genomic vARiants FIltering by dEep Learning moDels in NGSViola Ravasio, Marco Ritelli, Andrea Legati, et al.Annals of Clinical and Translational Neurology|March 27, 2019
A likely pathogenic variant in the SLC20A2 gene presenting with progressive myoclonusSimon Lamquet, Eliana M Ramos, Andrea Legati, et al.The Journal of Molecular Diagnostics : JMD|March 30, 2021
Current and New Next-Generation Sequencing Approaches to Study Mitochondrial DNAAndrea Legati, Nadia Zanetti, Alessia Nasca, et al.Human Molecular Genetics|September 4, 2024
Investigation in yeast of novel variants in mitochondrial aminoacyl-tRNA synthetases WARS2, NARS2, and RARS2 genes associated with mitochondrial diseasesSonia Figuccia, Rossella Izzo, Andrea Legati, et al.Frontiers in Genetics|December 25, 2018
Clinical and Biochemical Features in a Patient With Mitochondrial Fission Factor Gene AlterationAlessia Nasca, Francesca Nardecchia, Anna Commone, et al.American Journal of Medical Genetics. Part A|February 19, 2019
Homozygous variant in OTX2 and possible genetic modifiers identified in a patient with combined pituitary hormone deficiency, ocular involvement, myopathy, ataxia, and mitochondrial impairmentAlessia Catania, Andrea Legati, Lorenzo Peverelli, et al.Frontiers in Genetics|July 17, 2023
Nanopore long-read next-generation sequencing for detection of mitochondrial DNA large-scale deletionsChiara Frascarelli, Nadia Zanetti, Alessia Nasca, et al.Human Mutation|June 23, 2016
Biallelic Mutations in DNM1L are Associated with a Slowly Progressive Infantile EncephalopathyAlessia Nasca, Andrea Legati, Enrico Baruffini, et al.Pageof 6