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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In silico analysis of a novel causative mutation in Cadherin23 gene identified in an Omani family with hearing loss by Mohammed Nasser Al-Kindi, Mazin Jawad Al-Khabouri, Khalsa Ahmad Al-Lamki, Flavia Palombo, Tommaso Pippucci, Giovanni Romeo, Nadia Mohammed Al-Wardy

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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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Exome sequencing in 116 patients with inherited thrombocytopenia that remained of unknown origin after systematic phenotype-driven diagnostic workup by Caterina Marconi, Alessandro Pecci, Flavia Palombo, Federica Melazzini, Roberta Bottega, Elena Nardi, Valeria Bozzi, Michela Faleschini, Serena Barozzi, Tania Giangregorio, Pamela Magini, Carlo L. Balduini, Anna Savoia, Marco Seri, Patrizia Noris, Tommaso Pippucci

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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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Homozygous NOTCH3 null mutation and impaired NOTCH3 signaling in recessive early‐onset arteriopathy and cavitating leukoencephalopathy by Tommaso Pippucci, Alessandra Maresca, Pamela Magini, Giovanna Cenacchi, Vincenzo Donadio, Flavia Palombo, Valentina Papa, Alex Incensi, Giuseppe Gasparre, Maria Lucia Valentino, Carmela Preziuso, Annalinda Pisano, Michele Ragno, Rocco Liguori, Carla Giordano, Caterina Tonon, Raffaele Lodi, Antonia Parmeggiani, Valerio Carelli, Marco Seri

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Best practices for germline variant and DNA methylation analysis of second- and third-generation sequencing data by Ferdinando Bonfiglio, Andrea Legati, Vito Alessandro Lasorsa, Flavia Palombo, Giulia De Riso, Federica Isidori, Silvia Russo, Simone Furini, Giuseppe Merla, Fabio Coppedè, Marco Tartaglia, Omics Sciences - Bioinformatics and Epigenetics Working Groups of the Italian Society of Human Genetics (SIGU), Alessandro Bruselles, Tommaso Pippucci, Andrea Ciolfi, Michele Pinelli, Mario Capasso

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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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Clinical and pathogenic features of ETV6-related thrombocytopenia with predisposition to acute lymphoblastic leukemia by Federica Melazzini, Flavia Palombo, Alessandra Balduini, Daniela De Rocco, Caterina Marconi, Patrizia Noris, Chiara Gnan, Tommaso Pippucci, Valeria Bozzi, Michela Faleschini, Serena Barozzi, Michael Doubek, Christian A. Di Buduo, Katerina Stano Kozubik, Lenka Radova, Giuseppe Loffredo, Sarka Pospisilova, Caterina Alfano, Marco Seri, Carlo L. Balduini, Alessandro Pecci, Anna Savoia

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