AUDACITY: A comprehensive approach for the detection and classification of Runs of Homozygosity in medical and population genomics

por Magi, Alberto, Giangregorio, Tania, Semeraro, Roberto, Carangelo, Giulia, Palombo, Flavia, Romeo, Giovanni, Seri, Marco, Pippucci, Tommaso
Publicado 2020

First TMEM126A missense mutation in an Italian proband with optic atrophy and deafness

por La Morgia, Chiara, Caporali, Leonardo, Tagliavini, Francesca, Palombo, Flavia, Carbonelli, Michele, Liguori, Rocco, Barboni, Piero, Carelli, Valerio
Publicado 2019

A Second Case With the V374A KCND3 Pathogenic Variant in an Italian Patient With Early-Onset Spinocerebellar Ataxia

por Palombo, Flavia, La Morgia, Chiara, Fiorini, Claudio, Caporali, Leonardo, Valentino, Maria Lucia, Donadio, Vincenzo, Liguori, Rocco, Carelli, Valerio
Publicado 2022

Missense PDSS1 mutations in CoenzymeQ10 synthesis cause optic atrophy and sensorineural deafness

por Nardecchia, Francesca, De Giorgi, Agnese, Palombo, Flavia, Fiorini, Claudio, De Negri, Anna M., Carelli, Valerio, Caporali, Leonardo, Leuzzi, Vincenzo
Publicado 2020

In silico analysis of a novel causative mutation in Cadherin23 gene identified in an Omani family with hearing loss

por Al-Kindi, Mohammed Nasser, Al-Khabouri, Mazin Jawad, Al-Lamki, Khalsa Ahmad, Palombo, Flavia, Pippucci, Tommaso, Romeo, Giovanni, Al-Wardy, Nadia Mohammed
Publicado 2020

A Novel Null Homozygous Mutation Confirms CACNA2D2 as a Gene Mutated in Epileptic Encephalopathy

por Pippucci, Tommaso, Parmeggiani, Antonia, Palombo, Flavia, Maresca, Alessandra, Angius, Andrea, Crisponi, Laura, Cucca, Francesco, Liguori, Rocco, Valentino, Maria Lucia, Seri, Marco, Carelli, Valerio
Publicado 2013

Characterization and identification of hidden rare variants in the human genome

por Magi, Alberto, D’Aurizio, Romina, Palombo, Flavia, Cifola, Ingrid, Tattini, Lorenzo, Semeraro, Roberto, Pippucci, Tommaso, Giusti, Betti, Romeo, Giovanni, Abbate, Rosanna, Gensini, Gian Franco
Publicado 2015

Somatic APC mosaicism and oligogenic inheritance in genetically unsolved colorectal adenomatous polyposis patients

por Ciavarella, Michele, Miccoli, Sara, Prossomariti, Anna, Pippucci, Tommaso, Bonora, Elena, Buscherini, Francesco, Palombo, Flavia, Zuntini, Roberta, Balbi, Tiziana, Ceccarelli, Claudio, Bazzoli, Franco, Ricciardiello, Luigi, Turchetti, Daniela, Piazzi, Giulia
Publicado 2018

Epilepsy with auditory features: A heterogeneous clinico-molecular disease

por Pippucci, Tommaso, Licchetta, Laura, Baldassari, Sara, Palombo, Flavia, Menghi, Veronica, D'Aurizio, Romina, Leta, Chiara, Stipa, Carlotta, Boero, Giovanni, d'Orsi, Giuseppe, Magi, Alberto, Scheffer, Ingrid, Seri, Marco, Tinuper, Paolo, Bisulli, Francesca
Publicado 2015

Exome sequencing in 116 patients with inherited thrombocytopenia that remained of unknown origin after systematic phenotype-driven diagnostic workup

por Marconi, Caterina, Pecci, Alessandro, Palombo, Flavia, Melazzini, Federica, Bottega, Roberta, Nardi, Elena, Bozzi, Valeria, Faleschini, Michela, Barozzi, Serena, Giangregorio, Tania, Magini, Pamela, Balduini, Carlo L., Savoia, Anna, Seri, Marco, Noris, Patrizia, Pippucci, Tommaso
Publicado 2022

The relevance of mitochondrial DNA variants fluctuation during reprogramming and neuronal differentiation of human iPSCs

por Palombo, Flavia, Peron, Camille, Caporali, Leonardo, Iannielli, Angelo, Maresca, Alessandra, Di Meo, Ivano, Fiorini, Claudio, Segnali, Alice, Sciacca, Francesca L., Rizzo, Ambra, Levi, Sonia, Suomalainen, Anu, Prigione, Alessandro, Broccoli, Vania, Carelli, Valerio, Tiranti, Valeria
Publicado 2021

An increased burden of rare exonic variants in NRXN1 microdeletion carriers is likely to enhance the penetrance for autism spectrum disorder

por Cameli, Cinzia, Viggiano, Marta, Rochat, Magali J., Maresca, Alessandra, Caporali, Leonardo, Fiorini, Claudio, Palombo, Flavia, Magini, Pamela, Duardo, Renée C., Ceroni, Fabiola, Scaduto, Maria C., Posar, Annio, Seri, Marco, Carelli, Valerio, Visconti, Paola, Bacchelli, Elena, Maestrini, Elena
Publicado 2021

Homozygous NOTCH3 null mutation and impaired NOTCH3 signaling in recessive early-onset arteriopathy and cavitating leukoencephalopathy

por Pippucci, Tommaso, Maresca, Alessandra, Magini, Pamela, Cenacchi, Giovanna, Donadio, Vincenzo, Palombo, Flavia, Papa, Valentina, Incensi, Alex, Gasparre, Giuseppe, Valentino, Maria Lucia, Preziuso, Carmela, Pisano, Annalinda, Ragno, Michele, Liguori, Rocco, Giordano, Carla, Tonon, Caterina, Lodi, Raffaele, Parmeggiani, Antonia, Carelli, Valerio, Seri, Marco
Publicado 2015

Dissecting the multifaceted contribution of the mitochondrial genome to autism spectrum disorder

por Caporali, Leonardo, Fiorini, Claudio, Palombo, Flavia, Romagnoli, Martina, Baccari, Flavia, Zenesini, Corrado, Visconti, Paola, Posar, Annio, Scaduto, Maria Cristina, Ormanbekova, Danara, Battaglia, Agatino, Tancredi, Raffaella, Cameli, Cinzia, Viggiano, Marta, Olivieri, Anna, Torroni, Antonio, Maestrini, Elena, Rochat, Magali Jane, Bacchelli, Elena, Carelli, Valerio, Maresca, Alessandra
Publicado 2022

The Italian reappraisal of the most frequent genetic defects in hereditary optic neuropathies and the global top 10

por Fiorini, Claudio, Ormanbekova, Danara, Palombo, Flavia, Carbonelli, Michele, Amore, Giulia, Romagnoli, Martina, d’Agati, Pietro, Valentino, Maria Lucia, Barboni, Piero, Cascavilla, Maria Lucia, De Negri, Annamaria, Sadun, Federico, Carta, Arturo, Testa, Francesco, Petruzzella, Vittoria, Guerriero, Silvana, Bianchi Marzoli, Stefania, Carelli, Valerio, La Morgia, Chiara, Caporali, Leonardo
Publicado 2023

Association of rs3027178 polymorphism in the circadian clock gene PER1 with susceptibility to Alzheimer’s disease and longevity in an Italian population

por Bacalini, Maria Giulia, Palombo, Flavia, Garagnani, Paolo, Giuliani, Cristina, Fiorini, Claudio, Caporali, Leonardo, Stanzani Maserati, Michelangelo, Capellari, Sabina, Romagnoli, Martina, De Fanti, Sara, Benussi, Luisa, Binetti, Giuliano, Ghidoni, Roberta, Galimberti, Daniela, Scarpini, Elio, Arcaro, Marina, Bonanni, Enrica, Siciliano, Gabriele, Maestri, Michelangelo, Guarnieri, Biancamaria, Martucci, Morena, Monti, Daniela, Carelli, Valerio, Franceschi, Claudio, La Morgia, Chiara, Santoro, Aurelia
Publicado 2021

Impaired complex I repair causes recessive Leber’s hereditary optic neuropathy

por Stenton, Sarah L., Sheremet, Natalia L., Catarino, Claudia B., Andreeva, Natalia A., Assouline, Zahra, Barboni, Piero, Barel, Ortal, Berutti, Riccardo, Bychkov, Igor, Caporali, Leonardo, Capristo, Mariantonietta, Carbonelli, Michele, Cascavilla, Maria L., Charbel Issa, Peter, Freisinger, Peter, Gerber, Sylvie, Ghezzi, Daniele, Graf, Elisabeth, Heidler, Juliana, Hempel, Maja, Heon, Elise, Itkis, Yulya S., Javasky, Elisheva, Kaplan, Josseline, Kopajtich, Robert, Kornblum, Cornelia, Kovacs-Nagy, Reka, Krylova, Tatiana D., Kunz, Wolfram S., La Morgia, Chiara, Lamperti, Costanza, Ludwig, Christina, Malacarne, Pedro F., Maresca, Alessandra, Mayr, Johannes A., Meisterknecht, Jana, Nevinitsyna, Tatiana A., Palombo, Flavia, Pode-Shakked, Ben, Shmelkova, Maria S., Strom, Tim M., Tagliavini, Francesca, Tzadok, Michal, van der Ven, Amelie T., Vignal-Clermont, Catherine, Wagner, Matias, Zakharova, Ekaterina Y., Zhorzholadze, Nino V., Rozet, Jean-Michel, Carelli, Valerio, Tsygankova, Polina G., Klopstock, Thomas, Wittig, Ilka, Prokisch, Holger
Publicado 2021