Srivastava A.; Miao B.; Skopelitou D.; Kumar V.; Kumar A.; Paramasivam N.; Bonora E.; Hemminki K.; Forsti A.; Bandapalli O.R., A germline mutation in the POT1 gene is a candidate for familial non-medullary thyroid cancer, «CANCERS», 2020, 12, Article number: 1441, pp. 1441 - 1454 [articolo]Open Access
Acquaviva G.; de Biase D.; Diquigiovanni C.; Argento C.M.; De Leo A.; Bonora E.; Rhoden K.J.; Pession A.; Tallini G., BRAF exon 15 mutations in papillary carcinoma and adjacent thyroid parenchyma: A search for the early molecular events associated with tumor development, «CANCERS», 2020, 12, Article number: 430, pp. 1 - 15 [articolo]Open Access
Giancola F.; Volta U.; Repossi R.; Latorre R.; Beeckmans D.; Carbone F.; Van den Houte K.; Bianco F.; Bonora E.; Gori A.; Costanzini A.; Boschetti E.; Caio G.; Vanuytsel T.; Stanghellini V.; Tack J.; De Giorgio R., Mast cell-nerve interactions correlate with bloating and abdominal pain severity in patients with non-celiac gluten / wheat sensitivity, «NEUROGASTROENTEROLOGY AND MOTILITY», 2020, 32, Article number: e13814, pp. 1 - 10 [articolo]Open Access
Isidori F.; Bozzarelli I.; Ferrari S.; Godino L.; Innella G.; Turchetti D.; Bonora E., Rasal1 and ros1 gene variants in hereditary breast cancer, «CANCERS», 2020, 12, Article number: 2539, pp. 1 - 19 [articolo]Open Access
Isidori, Federica; Bozzarelli, Isotta; Mastracci, Luca; Malvi, Deborah; Lugaresi, Marialuisa; Molinari, Chiara; Söderström, Henna; Räsänen, Jari; D'Errico, Antonia; Fiocca, Roberto; Seri, Marco; Krishnadath, Kausilia K.; Bonora, Elena; Mattioli, Sandro, Targeted Sequencing of Sorted Esophageal Adenocarcinoma Cells Unveils Known and Novel Mutations in the Separated Subpopulations, «CLINICAL AND TRANSLATIONAL GASTROENTEROLOGY», 2020, 11, pp. e00202 - 10 [articolo]Open Access
Diquigiovanni C.; Bergamini C.; Diaz R.; Liparulo I.; Bianco F.; Masin L.; Baldassarro V.A.; Rizzardi N.; Tranchina A.; Buscherini F.; Wischmeijer A.; Pippucci T.; Scarano E.; Cordelli D.M.; Fato R.; Seri M.; Paracchini S.; Bonora E., A novel mutation in SPART gene causes a severe neurodevelopmental delay due to mitochondrial dysfunction with complex I impairments and altered pyruvate metabolism, «FASEB JOURNAL», 2019, 33, pp. 11284 - 11302 [articolo]
Bacchelli, Elena; Loi, Eleonora; Cameli, Cinzia; Moi, Loredana; Benedetti, Ana Florencia Vega; Blois, Sylvain; Fadda, Antonio; Bonora, Elena; Mattu, Sandra; Fadda, Roberta; Chessa, Rita; Maestrini, Elena; Doneddu, Giuseppe; Zavattari, Patrizia, Analysis of a Sardinian Multiplex Family with Autism Spectrum Disorder Points to Post-Synaptic Density Gene Variants and Identifies CAPG as a Functionally Relevant Candidate Gene, «JOURNAL OF CLINICAL MEDICINE», 2019, 8, Article number: 212, pp. 1 - 19 [articolo]Open Access
Boschetti E.; Malagelada C.; Accarino A.; Malagelada J.R.; Cogliandro R.F.; Gori A.; Bonora E.; Giancola F.; Bianco F.; Tugnoli V.; Clavenzani P.; Azpiroz F.; Stanghellini V.; Sternini C.; de Giorgio R., Enteric neuron density correlates with clinical features of severe gut dysmotility, «AMERICAN JOURNAL OF PHYSIOLOGY: GASTROINTESTINAL AND LIVER PHYSIOLOGY», 2019, 317, pp. G793 - G801 [articolo]
Boschetti E.; Accarino A.; Malagelada C.; Malagelada J.R.; Cogliandro R.F.; Gori A.; Tugnoli V.; Giancola F.; Bianco F.; Bonora E.; Clavenzani P.; Volta U.; Caio G.; Sternini C.; Stanghellini V.; Azpiroz F.; De Giorgio R., Gut epithelial and vascular barrier abnormalities in patients with chronic intestinal pseudo-obstruction, «NEUROGASTROENTEROLOGY AND MOTILITY», 2019, 31, pp. 1 - 11 [articolo]Open Access
Severi G.; Bonora E.; Perri A.; Scarano E.; Mazzanti L.; Isidori F.; Zuntini R.; Menabo S.; Graziano C., HDAC8 Loss of Function and SHOX Haploinsufficiency: Two Independent Genetic Defects Responsible for a Complex Phenotype, «CYTOGENETIC AND GENOME RESEARCH», 2019, 157, pp. 135 - 140 [articolo]
Sagna, Tani; Bonora, Elena; Ouedraogo, Marie Nabonswindé Lamoussa; Fusco, Daniela; Zoure, Abdou Azaque; Bisseye, Cyrille; Djigma, Florencia; Kafando, Jacques Gilbert; Zongo, Nayi; Douamba, Zoenabo; Obiri-Yeboah, Dorcas; Turchetti, Daniela; Pietra, Virginio; Lompo, Olga Melanie; Ouedraogo, Charlemagne; Seri, Marco; Simpore, Jacques, Identification of BRCA1/2 p.Ser1613Gly, p.Pro871Leu, p.Lys1183Arg, p.Glu1038Gly, p.Ser1140Gly, p.Ala2466Val, p.His2440Arg variants in women under 45 years old with breast nodules suspected of having breast cancer in Burkina Faso, «BIOMOLECULAR CONCEPTS», 2019, 10, pp. 120 - 127 [articolo]Open Access
Srivastava A.; Kumar A.; Giangiobbe S.; Bonora E.; Hemminki K.; Forsti A.; Bandapalli O.R., Whole genome sequencing of familial non-medullary thyroid cancer identifies germline alterations in MAPK/ERK and PI3K/AKT signaling pathways, «BIOMOLECULES», 2019, 9, Article number: 605, pp. 1 - 20 [articolo]Open Access
Zuntini, Roberta; Ferrari, Simona; Bonora, Elena; Buscherini, Francesco; Bertonazzi, Benedetta; Grippa, Mina; Godino, Lea; Miccoli, Sara; Turchetti, Daniela*, Dealing With BRCA1/2 unclassified variants in a cancer genetics clinic: Does cosegregation analysis help?, «FRONTIERS IN GENETICS», 2018, 9, Article number: 378, pp. 1 - 15 [articolo]Open Access
Bianco, F.; Eisenman, S.T.; Colmenares Aguilar, M.G.; Bonora, E.; Clavenzani, P.; Linden, D.R.; De Giorgio, R.; Farrugia, G.; Gibbons, S.J., Expression of RAD21 immunoreactivity in myenteric neurons of the human and mouse small intestine, «NEUROGASTROENTEROLOGY AND MOTILITY», 2018, 30, Article number: e13429, pp. 1 - 11 [articolo]Open Access
Kumar, Abhishek*; Bandapalli, Obul Reddy; Paramasivam, Nagarajan; Giangiobbe, Sara; Diquigiovanni, Chiara; Bonora, Elena; Eils, Roland; Schlesner, Matthias; Hemminki, Kari; Försti, Asta, Familial Cancer Variant Prioritization Pipeline version 2 (FCVPPv2) applied to a papillary thyroid cancer family, «SCIENTIFIC REPORTS», 2018, 8, Article number: 11635, pp. 1 - 12 [articolo]Open Access