Tommaso Pippucci

Loop profile ORCID

Publication Activity (10 Years)

Years Active: 2020-2024
Publications (10 Years): 9

Top Venues

European journal of human genetics : EJHG

American journal of medical genetics. Part A

Neurology. Genetics

Human genetics

This page only lists publications with an associated author ORCID identifier.

Publications

Ilaria Pettenuzzo, Sara Carli, Ana Sánchez-Cuesta, Federica Isidori, Francesca Montanari, Mina Grippa, Giulia Lanzoni, Irene Ambrosetti, Veronica Di Pisa, Duccio Maria Cordelli, Maria Cristina Mondardini, Tommaso Pippucci, Luca Ragni, Giovanna Cenacchi, Roberta Costa, Mario Lima, Maria Antonietta Capristo, Concetta Valentina Tropeano, Leonardo Caporali, Valerio Carelli, Elena Brunelli, Monica Maffei, Hodman Ahmed Sheikhmaye, Anna Fetta, Gloria Brea Calvo, Caterina Garone
COQ7 defect causes prenatal onset of mitochondrial CoQ 10 deficiency with cardiomyopathy and gastrointestinal obstruction. European journal of human genetics : EJHG 32 (8) (2024)
Ilaria Pettenuzzo, Sara Carli, Ana Sánchez-Cuesta, Federica Isidori, Francesca Montanari, Mina Grippa, Giulia Lanzoni, Irene Ambrosetti, Veronica Di Pisa, Duccio Maria Cordelli, Maria Cristina Mondardini, Tommaso Pippucci, Luca Ragni, Giovanna Cenacchi, Roberta Costa, Mario Lima, Maria Antonietta Capristo, Concetta Valentina Tropeano, Leonardo Caporali, Valerio Carelli, Elena Brunelli, Monica Maffei, Hodman Ahmed Sheikhmaye, Anna Fetta, Gloria Brea Calvo, Caterina Garone
COQ7 defect causes prenatal onset of mitochondrial CoQ 10 deficiency with cardiomyopathy and gastrointestinal obstruction. European journal of human genetics : EJHG 32 (8) (2024)
Ilaria Pettenuzzo, Sara Carli, Ana Sánchez-Cuesta, Federica Isidori, Francesca Montanari, Mina Grippa, Giulia Lanzoni, Irene Ambrosetti, Veronica Di Pisa, Duccio Maria Cordelli, Maria Cristina Mondardini, Tommaso Pippucci, Luca Ragni, Giovanna Cenacchi, Roberta Costa, Mario Lima, Maria Antonietta Capristo, Concetta Valentina Tropeano, Leonardo Caporali, Valerio Carelli, Elena Brunelli, Monica Maffei, Hodman Ahmed Sheikhmaye, Anna Fetta, Gloria Brea Calvo, Caterina Garone
COQ7 defect causes prenatal onset of mitochondrial CoQ 10 deficiency with cardiomyopathy and gastrointestinal obstruction. European journal of human genetics : EJHG (2024)
Ilaria Pettenuzzo, Sara Carli, Ana Sánchez-Cuesta, Federica Isidori, Francesca Montanari, Mina Grippa, Giulia Lanzoni, Irene Ambrosetti, Veronica Di Pisa, Duccio Maria Cordelli, Maria Cristina Mondardini, Tommaso Pippucci, Luca Ragni, Giovanna Cenacchi, Roberta Costa, Mario Lima, Maria Antonietta Capristo, Concetta Valentina Tropeano, Leonardo Caporali, Valerio Carelli, Elena Brunelli, Monica Maffei, Hodman Ahmed Sheikhmaye, Anna Fetta, Gloria Brea Calvo, Caterina Garone
COQ7 defect causes prenatal onset of mitochondrial CoQ 10 deficiency with cardiomyopathy and gastrointestinal obstruction. European journal of human genetics : EJHG 32 (8) (2024)
Ilaria Pettenuzzo, Sara Carli, Ana Sánchez-Cuesta, Federica Isidori, Francesca Montanari, Mina Grippa, Giulia Lanzoni, Irene Ambrosetti, Veronica Di Pisa, Duccio Maria Cordelli, Maria Cristina Mondardini, Tommaso Pippucci, Luca Ragni, Giovanna Cenacchi, Roberta Costa, Mario Lima, Maria Antonietta Capristo, Concetta Valentina Tropeano, Leonardo Caporali, Valerio Carelli, Elena Brunelli, Monica Maffei, Hodman Ahmed Sheikhmaye, Anna Fetta, Gloria Brea Calvo, Caterina Garone
COQ7 defect causes prenatal onset of mitochondrial CoQ 10 deficiency with cardiomyopathy and gastrointestinal obstruction. European journal of human genetics : EJHG 32 (8) (2024)
Chiara Giovenino, Slavica Trajkova, Lisa Pavinato, Simona Cardaropoli, Verdiana Pullano, Enza Ferrero, Elena Sukarova-Angelovska, Silvia Carestiato, Paola Salmin, Antonina Rinninella, Anthony Battaglia, Luca Bertoli, Antonio Fadda, Flavia Palermo, Diana Carli, Alessandro Mussa, Paola Dimartino, Alessandro Bruselles, Tawfiq Froukh, Giorgia Mandrile, Barbara Pasini, Silvia De Rubeis, Joseph D Buxbaum, Tommaso Pippucci, Tartaglia Marco, Marzia Rossato, Massimo Delledonne, Giovanni Battista Ferrero, Alfredo Brusco
Skewed X-chromosome inactivation in unsolved neurodevelopmental disease cases can guide re-evaluation For X-linked genes. European journal of human genetics : EJHG (2023)
Lisa Pavinato, Slavica Trajkova, Enrico Grosso, Elisa Giorgio, Alessandro Bruselles, Francesca Clementina Radio, Tommaso Pippucci, Paola Dimartino, Tartaglia Marco, Aleksandar Petlichkovski, Silvia De Rubeis, Joseph D Buxbaum, Giovanbattista Giovanni Battista Ferrero, Roberto Keller, Alfredo Brusco
Expanding the clinical phenotype of the ultra-rare Skraban-Deardorff syndrome: Two novel individuals with WDR26 loss-of-function variants and a literature review. American journal of medical genetics. Part A 185 (6) (2021)
Flavia Palombo, Claudio Graziano, Nadia Al Wardy, Nayereh Nouri, Caterina Marconi, Pamela Magini, Giulia Severi, Chiara La Morgia, Gaetano Cantalupo, Duccio Maria Cordelli, Simone Gangarossa, Mohammed Nasser Al Kindi, Mazin Al Khabouri, Mansoor Salehi, Elisa Giorgio, Alfredo Brusco, Francesco Pisani, Giovanni Romeo, Valerio Carelli, Tommaso Pippucci, Marco Seri
Autozygosity-driven genetic diagnosis in consanguineous families from Italy and the Greater Middle East. Human genetics 139 (11) (2020)
Renzo Guerrini, Mara Cavallin, Tommaso Pippucci, Anna Rosati, Francesca Bisulli, Paola Dimartino, Carmen Barba, Rita Garbelli, Anna Maria Buccoliero, Laura Tassi, Valerio Conti
Is Focal Cortical Dysplasia/Epilepsy Caused by Somatic MTOR Mutations Always a Unilateral Disorder? Neurology. Genetics 7 (1) (2020)

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Publication Activity (10 Years)

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Tommaso Pippucci