AUDACITY: A comprehensive approach for the detection and classification of Runs of Homozygosity in medical and population genomics by Alberto Magi, Tania Giangregorio, Roberto Semeraro, Giulia Carangelo, Flavia Palombo, Giovanni Romeo, Marco Seri, Tommaso Pippucci

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A novel null homozygous mutation confirms CACNA2D2 as a gene mutated in epileptic encephalopathy. by Tommaso Pippucci, Antonia Parmeggiani, Flavia Palombo, Alessandra Maresca, Andrea Angius, Andrea Angius, Laura Crisponi, Francesco Cucca, Rocco Liguori, Maria Lucia Valentino, Marco Seri, Valerio Carelli

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The genetic puzzle of a SOD1-patient with ocular ptosis and a motor neuron disease: a case report by Veria Vacchiano, Flavia Palombo, Danara Ormanbekova, Claudio Fiorini, Alessia Fiorentino, Leonardo Caporali, Leonardo Caporali, Andrea Mastrangelo, Maria Lucia Valentino, Maria Lucia Valentino, Sabina Capellari, Sabina Capellari, Rocco Liguori, Rocco Liguori, Valerio Carelli, Valerio Carelli

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Clinical study of ferredoxin-reductase-related mitochondriopathy: Genotype-phenotype correlation and proposal of ancestry-based carrier screening in the Mexican population by Teresa Campbell, Jesse Slone, Hallie Metzger, Wensheng Liu, Stephanie Sacharow, Amy Yang, Mariya Moosajee, Chiara La Morgia, Valerio Carelli, Flavia Palombo, Matthew A. Lines, A. Micheil Innes, Rebecca J. Levy, Derek Neilson, Nicola Longo, Taosheng Huang

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Dissecting the multifaceted contribution of the mitochondrial genome to autism spectrum disorder by Leonardo Caporali, Claudio Fiorini, Flavia Palombo, Martina Romagnoli, Flavia Baccari, Corrado Zenesini, Paola Visconti, Annio Posar, Annio Posar, Maria Cristina Scaduto, Danara Ormanbekova, Agatino Battaglia, Raffaella Tancredi, Cinzia Cameli, Marta Viggiano, Anna Olivieri, Antonio Torroni, Elena Maestrini, Magali Jane Rochat, Elena Bacchelli, Valerio Carelli, Valerio Carelli, Alessandra Maresca

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