SANTIN, AURORA
SANTIN, AURORA
Dipartimento Universitario Clinico di Scienze mediche, chirurgiche e della salute
A Complete Picture of the CYP2D6 Heterogeneity in Northeastern Italian Genetic Isolates
2025-01-01 Tesolin, Paola; Nardone, Giuseppe Giovanni; Santin, Aurora; Pecori, Alessandro; Ruberto, Romina; Concas, Maria Pina; Zampieri, Stefania; Girotto, Giorgia
A genome‐wide association meta‐analysis of all‐cause and vascular dementia
2024-01-01 Mega Vascular Cognitive Impairment and Dementia (MEGAVCID) consortium, ; Fongang, Bernard; Sargurupremraj, Muralidharan; Jian, Xueqiu; Mishra, Aniket; Damotte, Vincent; Itziar de Rojas, ; Skrobot, Olivia; Joshua, C Bis; Fan, Kang-Hsien; Jacobsen, Erin; Gloria Hoi-Yee Li, ; Yang, Jingyun; Alessandra, Bizzarro; Alessandra, Lauria; Hilal, Saima; Joyce Ruifen Chong, ; Yuek Ling Chai, ; J Knol, M; Concas, MARIA PINA; Girotto, Giorgia; Riaz, Moeen; Chenglong, Yu; Guojonsson, Alexander; Lacaze, Paul; Adam, C Naj; Gireud-Goss, Monica; Yannick, N Wadop; Soumare, Aicha; Bouteloup, Vincent; Gudnason, Vilmundur; Battista, Petronilla; Santin, Aurora; Spedicati, Beatrice; Sardone, Rodolfo; Launer, Lenore; Bressler, Jan; Rebecca, F Gottesman; Quentin Le Grand, ; Caro, Ilana; Gennady, V Roshchupkin; Hampton, L Leonard; Yang, Chaojie; Traci, M Bartz; Bordes, Constance; Paul, M Ridker; Mirjam, I Geerlings; Natalie, C Gasca; Manichaikul, Ani; Mike, A Nalls; Stephen, S Rich; Carsten, O Schmidt; Trompet, Stella; Jessica van Setten, ; Marion van Vugt, ; Hans, J Grabe; J Wouter Jukema, ; Ina, L Rissanen; Wassertheil-Smoller, Sylvia; M Arfan Ikram, ; Eleanor, M Simonsick; T Longstreth, W; Daniel, I Chasman; Jerome, I Rotter; Sattar, Naveed; David, J Stott; Eric, J Shiroma; Sigurdsson, Sigurdur; Ghanbari, Mohsen; Schminke, Ulf; Boerwinkle, Eric; Hugo, J Aparicio; Alexa, S Beiser; Jose, R Romero; Lioutas, Vasileios; Wang, Ruiqi; Sarnowski, Chloe; Teumer, Alexander; Völker, Uwe; Thomas, H Mosley; Marquié, Marta; García-González, Pablo; Olivé, Clàudia; Puerta, Raquel; Cano, Amanda; Sotolongo-Grau, Oscar; Valero, Sergi; Vanesa Veronica Pytel, ; Rosende-Roca, Maitée; Alegret, Montserrat; Tàrraga, Lluís; Boada, Mercè; Carracedo, Ángel; Franco-Macías, Emilio; Piñol-Ripoll, Gerard; Garcia-Ribas, Guillermo; Pérez-Tur, Jordi; Jose Luís Royo, ; Jose María García-Alberca, ; Luis Miguel Real, ; María Eugenia Sáez, ; María, J Bullido; Calero, Miguel; Medina, Miguel; Mir, Pablo; Sánchez-Juan, Pascual; Pastor, Pau; Álvarez, Victoria; Grenier-Boley, Benjamin; Küçükali, Fahri; Sven Van der Lee, ; Peters, Oliver; Schneider, Anja; Dichgans, Martin; Rujescu, Dan; Deckert, Jürgen; Düzel, Emrah; Wiltfang, Jens; Wagner, Michael; Grimmer, Timo; Scarmeas, Nikolaos; Moreno, Fermin; Sánchez-Valle, Raquel; Luis, M Real; Rodriguez-Rodriguez, Eloy; Adolfo Lopez de Munain, ; Alexandre de Mendonça, ; Hort, Jakub; Graff, Caroline; Papenberg, Goran; Giedraitis, Vilmantas; Børge, G Nordestgaard; Soininen, Hilkka; Kivipelto, Miia; Haapasalo, Annakaisa; Nicolas, Gael; Pasquier, Florence; Hanon, Olivier; Grünblatt, Edna; Galimberti, Daniela; Arosio, Beatrice; Mecocci, Patrizia; Squassina, Alessio; Tremolizzo, Lucio; Rainero, Innocenzo; Seripa, Davide; Williams, Julie; Amouyel, Philippe; Jessen, Frank; Magda, Tsolaki; Frikke-Schmidt, Ruth; Sleegers, Kristel; Engelborghs, Sebastiaan; Vandenberghe, Rik; Ingelsson, Martin; Rossi, Giacomina; Hiltunen, Mikko; Sims, Rebecca; Gugała-Iwaniuk, Magdalena; Mitchell K, P Lai; Venketasubramanian, N; Tan, Boon-Yeow; Angelo Baldassare Cefalù, ; Nicola, J Armstrong; Baschi, Roberta; Bordet, Regis; Bordet, Anne-Marie; Brodaty, Henry; Djurovic, Srdjan; D'Onofrio, Grazia; Esiri, Margaret; Gelé, Patrick; Juarez-Cedillo, Teresa; Kalaria, Raj; Karhunen, Pekka; Laczo, Jan; Lerch, Ondrej; Masullo, Carlo; Karen, A Mather; Matoska, Vaclav; Melkas, Susanna; Monastero, Roberto; Numbers, Katya; Panza, Francesco; Tuomo, M Polvikoski; Quinn, Joe; Rongve, Arvid; Perminder, S Sachdev; Scamosci, Michela; Thalamuthu, Anbupalam; Tybjærg-Hansen, Anne; Vyhnalek, Martin; Shawn, K Westaway; Amy, E Martinsen; Anne Heidi Skogholt, ; Cristen, J Willer; Stordal, Eystein; Bråthen, Geir; Jonas Bille Nielsen, ; Lars, G Fritsche; Laurent, F Thomas; Linda, M Pedersen; Maiken, E Gabrielsen; Ole Kristian Drange, ; Sigrid Botne Sando, ; Tore Wergeland Meisingset, ; Chene, Genevieve; Zhou, Wei; Tzourio, Christophe; Tin, Adrienne; Oscar, L Lopez; Mary, Haan; Allison, E Aiello; Børte, Sigrid; Bosnes, Ingunn; Cornelia van Duijn, ; Cheung, Ching-Lung; David, A Bennett; Chen, Christopher; M Ilyas Kamboh, ; Satizabal, Claudia; M Kamran Ikram, ; Adams, Hieab; Qiong, Yang; Gerard, D Schellenberg; Selbæk, Geir; Hveem, Kristian; Ole, A Andreassen; Ramirez, Alfredo; Dufouil, Carole; Wiesje van der Flier, ; Zwart, John-Anker; Debette, Stéphanie; Fornage, Myriam; Winsvold, Bendik; Lambert, Jean-Charles; Ruiz, Agustin; Patrick, G Kehoe; Weinstein, Galit; Seshadri, Sudha
A Hitchhiker Guide to Structural Variant Calling: A Comprehensive Benchmark Through Different Sequencing Technologies
2025-01-01 Nardone, Giuseppe Giovanni; Andrioletti, Valentina; Santin, Aurora; Morgan, Anna; Spedicati, Beatrice; Concas, Maria Pina; Gasparini, Paolo; Girotto, Giorgia; Limongelli, Ivan
A possible association between low MBL/lectin pathway functionality and microbiota dysbiosis in endometriosis patients
2025-01-01 Toffoli, Miriam; Campisciano, Giuseppina; Santin, Aurora; Pegoraro, Silvia; Zito, Gabriella; Spedicati, Beatrice; Balduit, Andrea; Romano, Federico; Di Lorenzo, Giovanni; Mangogna, Alessandro; Tesolin, Paola; Nardone, Giuseppe Giovanni; Zanotta, Nunzia; Sanna, Serena; Corbu, Francesca; Kishore, Uday; Ricci, Giuseppe; Bulla, Roberta; Girotto, Giorgia; Agostinis, Chiara
Challenging Occam's Razor: Dual Molecular Diagnoses Explain Entangled Clinical Pictures
2022-01-01 Spedicati, Beatrice; Morgan, Anna; Pianigiani, Giulia; Musante, Luciana; Rubinato, Elisa; Santin, Aurora; Nardone, Giuseppe Giovanni; Faletra, Flavio; Girotto, Giorgia
Clenching the Strings of Bruxism Etiopathogenesis: Association Analyses on Genetics and Environmental Risk Factors in a Deeply Characterized Italian Cohort
2024-01-01 Pecori, Alessandro; Luppieri, Valentina; Santin, Aurora; Spedicati, Beatrice; Zampieri, Stefania; Cadenaro, Milena; Girotto, Giorgia; Concas, Maria Pina
Genetic and Phenotypic Characterization of Nexilin (NEXN)-Related Cardiomyopathy: Results From a Multicentric Study
2025-01-01 Perotto, Maria; Paldino, Alessia; Mazzarotto, Francesco; Barbati, Giulia; Stroeks, Sophie L V M; Verdonschot, Job A J; Akhtar, Mohammed; Elliott, Perry; Ochoa, Juan Pablo; Garcia-Pavia, Pablo; De Frutos, Fernando; Sepp, Robert; Hategan, Lidia; Prasad, Sanjay; Yazdani, Momina; Morris-Rosendahl, Deborah; Palinkas, Eszter Dalma; Girolami, Francesca; Olivotto, Iacopo; Parikh, Victoria N; Fatkin, Diane; Lakdawala, Neal; Mckenna, William J; Stolfo, Davide; Gigli, Marta; Brun, Francesca; Collesi, Chiara; Giacca, Mauro; Zacchigna, Serena; Severini, Giovanni Maria; Lenarduzzi, Stefania; Spedicati, Beatrice; Santin, Aurora; Girotto, Giorgia; Gasparini, Paolo; Taylor, Matthew R G; Mestroni, Luisa; Merlo, Marco; Sinagra, Gianfranco; Dal Ferro, Matteo
Genome‐Wide Interaction Analyses of Serum Calcium on Ventricular Repolarization Time in 125 393 Participants
2024-01-01 Young, William J.; van der Most, Peter J.; Bartz, Traci M.; Bos, Maxime M.; Biino, Ginevra; Duong, Thuyvy; Foco, Luisa; Lominchar, Jesus T.; Müller‐nurasyid, Martina; Nardone, Giuseppe Giovanni; Pecori, Alessandro; Ramirez, Julia; Repetto, Linda; Schramm, Katharina; Shen, Xia; van Duijvenboden, Stefan; van Heemst, Diana; Weiss, Stefan; Yao, Jie; Benjamins, Jan‐walter; Alonso, Alvaro; Spedicati, Beatrice; Biggs, Mary L.; Brody, Jennifer A.; Dörr, Marcus; Fuchsberger, Christian; Gögele, Martin; Guo, Xiuqing; Ikram, M. Arfan; Jukema, J. Wouter; Kääb, Stefan; Kanters, Jørgen K.; Lifelines Cohort, Study; Lin, Henry J.; Linneberg, Allan; Nauck, Matthias; Nolte, Ilja M.; Pianigiani, Giulia; Santin, Aurora; Soliman, Elsayed Z.; Tesolin, Paola; Vaccargiu, Simona; Waldenberger, Melanie; van der Harst, Pim; Verweij, Niek; Arking, Dan E.; Concas, Maria Pina; De Grandi, Alessandro; Girotto, Giorgia; Grarup, Niels; Kavousi, Maryam; Mook‐kanamori, Dennis O.; Navarro, Pau; Orini, Michele; Padmanabhan, Sandosh; Pattaro, Cristian; Peters, Annette; Pirastu, Mario; Pramstaller, Peter P.; Heckbert, Susan R.; Sinner, Mortiz; Snieder, Harold; Völker, Uwe; Wilson, James F.; Gauderman, W. James; Lambiase, Pier D.; Sotoodehnia, Nona; Tinker, Andrew; Warren, Helen R.; Noordam, Raymond; Munroe, Patricia B.
Hidden in the Genome: The First Italian Family with North Carolina Macular Dystrophy Carrying a Novel PRDM13 and CCNC Duplication
2025-01-01 Spedicati, Beatrice; Pasquetti, Domizia; Santin, Aurora; Zampieri, Stefania; Morgan, Anna; Lenarduzzi, Stefania; Nardone, Giuseppe Giovanni; Paccagnella, Elisa; Cappellani, Stefania; Diplotti, Laura; Pensiero, Stefano; Parentin, Fulvio; Gasparini, Paolo; Battaglia Parodi, Maurizio; Girotto, Giorgia
Identifying missing pieces in color vision defects: a genome-wide association study in Silk Road populations
2023-01-01 Nardone, Giuseppe Giovanni; Spedicati, Beatrice; Concas, Maria Pina; Santin, Aurora; Morgan, Anna; Mazzetto, Lorenzo; Battaglia-Parodi, Maurizio; Girotto, Giorgia
Normal hearing function genetics: have you heard all about it? An integrated approach of genome-wide association studies and transcriptome-wide association studies in three Italian cohorts
2025-01-01 Santin, Aurora; Pianigiani, Giulia; Gialluisi, Alessandro; Pecori, Alessandro; Spedicati, Beatrice; Costanzo, Simona; Persichillo, Mariarosaria; Bracone, Francesca; Nardone, Giuseppe Giovanni; Tesolin, Paola; Lenarduzzi, Stefania; Morgan, Anna; De Curtis, Amalia; Van Der Valk, Wouter; Rousset, Francis; Roccio, Marta; Locher, Heiko; Iacoviello, Licia; Concas, Maria Pina; Girotto, Giorgia
Odontostomatological Traits in North-Eastern Italy's Isolated Populations: An Epidemiological Cross-Sectional Study
2023-01-01 Luppieri, Valentina; Pecori, Alessandro; Spedicati, Beatrice; Schito, Riccardo; Pozzan, Lucia; Santin, Aurora; Girotto, Giorgia; Cadenaro, Milena; Concas, Maria Pina
Proangiogenic properties of complement protein C1q can contribute to endometriosis
2024-01-01 Agostinis, Chiara; Toffoli, Miriam; Zito, Gabriella; Balduit, Andrea; Pegoraro, Silvia; Spazzapan, Mariagiulia; Pascolo, Lorella; Romano, Federico; Di Lorenzo, Giovanni; Mangogna, Alessandro; Santin, Aurora; Spedicati, Beatrice; Valencic, Erica; Girotto, Giorgia; Ricci, Giuseppe; Kishore, Uday; Bulla, Roberta
Puzzling Out the Genetic Architecture of Endometriosis: Whole-Exome Sequencing and Novel Candidate Gene Identification in a Deeply Clinically Characterised Cohort
2023-01-01 Santin, Aurora; Spedicati, Beatrice; Morgan, Anna; Lenarduzzi, Stefania; Tesolin, Paola; Nardone, Giuseppe Giovanni; Mazzà, Daniela; Di Lorenzo, Giovanni; Romano, Federico; Buonomo, Francesca; Mangogna, Alessandro; Concas, Maria Pina; Zito, Gabriella; Ricci, Giuseppe; Girotto, Giorgia
Scent of COVID-19: Whole-Genome Sequencing Analysis Reveals the Role of ACE2, IFI44, and NDUFAF4 in Long-Lasting Olfactory Dysfunction
2025-01-01 Spedicati, Beatrice; Pecori, Alessandro; Concas, Maria Pina; Santin, Aurora; Ruberto, Romina; Nardone, Giuseppe Giovanni; D'Alessandro, Andrea; Tirelli, Giancarlo; Boscolo-Rizzo, Paolo; Girotto, Giorgia
Sensory Capacities and Eating Behavior: Intriguing Results from a Large Cohort of Italian Individuals
2022-01-01 Concas, Maria Pina; Morgan, Anna; Tesolin, Paola; Santin, Aurora; Girotto, Giorgia; Gasparini, Paolo
Shedding light on Endometriosis disease: Analyzing the role of Genetics, Diet and Microbiome on a highly characterized cohort
2025-03-20 Santin, Aurora
The Bittersweet Symphony of COVID-19: Associations between TAS1Rs and TAS2R38 Genetic Variations and COVID-19 Symptoms
2024-01-01 Santin, Aurora; Spedicati, Beatrice; Pecori, Alessandro; Nardone, Giuseppe Giovanni; Concas, Maria Pina; Piatti, Gioia; Menini, Anna; Tirelli, Giancarlo; Boscolo-Rizzo, Paolo; Girotto, Giorgia
The Enigmatic Genetic Landscape of Hereditary Hearing Loss: A Multistep Diagnostic Strategy in the Italian Population
2023-01-01 Spedicati, Beatrice; Santin, Aurora; Nardone, Giuseppe Giovanni; Rubinato, Elisa; Lenarduzzi, Stefania; Graziano, Claudio; Garavelli, Livia; Miccoli, Sara; Bigoni, Stefania; Morgan, Anna; Girotto, Giorgia
Which Came First? When Usher Syndrome Type 1 Couples with Neuropsychiatric Disorders
2023-01-01 Tesolin, Paola; Santin, Aurora; Morgan, Anna; Lenarduzzi, Stefania; Rubinato, Elisa; Girotto, Giorgia; Spedicati, Beatrice