| Maternally inherited genetic variants of CADPS2 are present in Autism Spectrum Disorders and Intellectual Disability patients E Bonora, C Graziano, F Minopoli, E Bacchelli, P Magini, C Diquigiovanni, ... EMBO Molecular Medicine 6 (6), 795-809, 2014 | 53 | 2014 |
| The FOXE1 locus is a major genetic determinant for familial nonmedullary thyroid carcinoma E Bonora, C Rizzato, C Diquigiovanni, T Oudot‐Mellakh, D Campa, ... International journal of cancer 134 (9), 2098-2107, 2014 | 51 | 2014 |
| Mutant MYO1F alters the mitochondrial network and induces tumor proliferation in thyroid cancer C Diquigiovanni, C Bergamini, C Evangelisti, F Isidori, A Vettori, N Tiso, ... International journal of cancer 143 (7), 1706-1719, 2018 | 46 | 2018 |
| Syndromic intellectual disability: a new phenotype caused by an aromatic amino acid decarboxylase gene (DDC) variant C Graziano, A Wischmeijer, T Pippucci, C Fusco, C Diquigiovanni, ... Gene 559 (2), 144-148, 2015 | 38 | 2015 |
| Biallelic variants in LIG3 cause a novel mitochondrial neurogastrointestinal encephalomyopathy E Bonora, S Chakrabarty, G Kellaris, M Tsutsumi, F Bianco, C Bergamini, ... Brain 144 (5), 1451-1466, 2021 | 36 | 2021 |
| Familial Cancer Variant Prioritization Pipeline version 2 (FCVPPv2) applied to a papillary thyroid cancer family A Kumar, OR Bandapalli, N Paramasivam, S Giangiobbe, ... Scientific reports 8 (1), 11635, 2018 | 30 | 2018 |
| Whole Genome Sequencing Prioritizes CHEK2, EWSR1, and TIAM1 as Possible Predisposition Genes for Familial Non-Medullary Thyroid Cancer A Srivastava, S Giangiobbe, D Skopelitou, B Miao, N Paramasivam, ... Frontiers in endocrinology 12, 600682, 2021 | 16 | 2021 |
| A novel mutation in SPART gene causes a severe neurodevelopmental delay due to mitochondrial dysfunction with complex I impairments and altered pyruvate metabolism C Diquigiovanni, C Bergamini, R Diaz, I Liparulo, F Bianco, L Masin, ... Faseb Journal, 2019 | 16 | 2019 |
| BRAF Exon 15 Mutations in Papillary Carcinoma and Adjacent Thyroid Parenchyma: A Search for the Early Molecular Events Associated with Tumor Development G Acquaviva, D de Biase, C Diquigiovanni, CM Argento, A De Leo, ... Cancers 12 (2), 430, 2020 | 12 | 2020 |
| Omics technologies improving breast cancer research and diagnostics A Orsini, C Diquigiovanni, E Bonora International Journal of Molecular Sciences 24 (16), 12690, 2023 | 11 | 2023 |
| Calcium and reactive oxygen species signaling interplays in cardiac physiology and pathologies B De Nicolo, E Cataldi-Stagetti, C Diquigiovanni, E Bonora Antioxidants 12 (2), 353, 2023 | 10 | 2023 |
| Genetics of familial non-medullary thyroid carcinoma (FNMTC) C Diquigiovanni, E Bonora Cancers 13 (9), 2178, 2021 | 7 | 2021 |
| Novel understanding on genetic mechanisms of enteric neuropathies leading to severe gut dysmotility F Bianco, G Lattanzio, L Lorenzini, C Diquigiovanni, M Mazzoni, ... European Journal of Histochemistry: EJH 65 (Suppl 1), 2021 | 6 | 2021 |
| Mutant SPART causes defects in mitochondrial protein import and bioenergetics reversed by Coenzyme Q C Diquigiovanni, N Rizzardi, A Kampmeier, I Liparulo, F Bianco, ... Open biology 13 (7), 230040, 2023 | 2 | 2023 |
| Functional analysis supports pathogenicity of a synonymous variant in MSH2 in a patient with suspected Lynch Syndrome I Bacchi, C Diquigiovanni, G Innella, S Ferrari, E Bonora, D Turchetti EUROPEAN JOURNAL OF HUMAN GENETICS 32, 560-561, 2024 | | 2024 |
| Biallelic variants in SPART cause a mitochondrial dysfunction and cell cycle arrest in Troyer Syndrome C Diquigiovanni, A Kampmeier, E Cuna, N Rizzardi, I Liparulo, F Bianco, ... EUROPEAN JOURNAL OF HUMAN GENETICS 30 (SUPPL 1), 207-208, 2022 | | 2022 |
| Mutations in LIG3 are a novel cause of mitochondrial neurogastrointestinal encephalomyopathy E Bonora, F Bianco, C Bergamini, G Kellaris, F Ullah, F Isidori, I Liparulo, ... EUROPEAN JOURNAL OF HUMAN GENETICS 27, 1159-1160, 2019 | | 2019 |
| Identification of variants predisposing to breast cancer through a WES approach I Bozzarelli, F Isidori, C Diquigiovanni, F Buscherini, R Zuntini, L Godino, ... EUROPEAN JOURNAL OF HUMAN GENETICS 27, 409-409, 2019 | | 2019 |
| In Troyer syndrome Spartin loss induces Complex I impairments and alters pyruvate metabolism C Diquigiovanni, C Bergamini, R Diaz, I Liparulo, F Bianco, L Masin, ... bioRxiv, 488239, 2018 | | 2018 |
| Novel mutations in neurogenic chronic intestinal pseudo-obstruction identified by high-throughput sequencing E Bonora, F Bianco, A Stanzani, C Diquigiovanni, R Rinaldi, R D'Angelo, ... Gastroenterology 152 (5), S129-S129, 2017 | | 2017 |
