GNE-related thrombocytopenia: evidence for a mutational hotspot in the ADP/substrate domain of the GNE bifunctional enzyme by Bottega, Roberta, Marzollo, Antonio, Marinoni, Maddalena, Athanasakis, Emmanouil, Persico, Ilaria, Bianco, Anna Monica, Faleschini, Michela, Valencic, Erica, Simoncini, Daniela, Rossini, Linda, Corsolini, Fabio, La Bianca, Martina, Robustelli, Giuseppe, Gabelli, Maria, Agosti, Massimo, Biffi, Alessandra, Grotto, Paolo, Bozzi, Valeria, Noris, Patrizia, Burlina, Alberto B, D'Adamo, Adamo Pio, Tommasini, Alberto, Faletra, Flavio, Pastore, Annalisa, Savoia, Anna

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Meta-analysis of genome-wide association studies identifies six new Loci for serum calcium concentrations by O'Seaghdha, Conall M, Wu, Hongsheng, Yang, Qiong, Kapur, Karen, Guessous, Idris, Zuber, Annie Mercier, Köttgen, Anna, Stoudmann, Candice, Teumer, Alexander, Kutalik, Zoltán, Mangino, Massimo, Dehghan, Abbas, Zhang, Weihua, Eiriksdottir, Gudny, Li, Guo, Tanaka, Toshiko, Portas, Laura, Lopez, Lorna M, Hayward, Caroline, Lohman, Kurt, Matsuda, Koichi, Padmanabhan, Sandosh, Firsov, Dmitri, Sorice, Rossella, Ulivi, Sheila, Brockhaus, A Catharina, Kleber, Marcus E, Mahajan, Anubha, Ernst, Florian D, Gudnason, Vilmundur, Launer, Lenore J, Mace, Aurelien, Boerwinckle, Eric, Arking, Dan E, Tanikawa, Chizu, Nakamura, Yusuke, Brown, Morris J, Gaspoz, Jean-Michel, Theler, Jean-Marc, Siscovick, David S, Psaty, Bruce M, Bergmann, Sven, Vollenweider, Peter, Vitart, Veronique, Wright, Alan F, Zemunik, Tatijana, Boban, Mladen, Kolcic, Ivana, Navarro, Pau, Brown, Edward M, Estrada, Karol, Ding, Jingzhong, Harris, Tamara B, Bandinelli, Stefania, Hernandez, Dena, Singleton, Andrew B, Girotto, Giorgia, Ruggiero, Daniela, d'Adamo, Adamo Pio, Robino, Antonietta, Meitinger, Thomas, Meisinger, Christa, Davies, Gail, Starr, John M, Chambers, John C, Boehm, Bernhard O, Winkelmann, Bernhard R, Huang, Jie, Murgia, Federico, Wild, Sarah H, Campbell, Harry, Morris, Andrew P, Franco, Oscar H, Hofman, Albert, Uitterlinden, Andre G, Rivadeneira, Fernando, Völker, Uwe, Hannemann, Anke, Biffar, Reiner, Hoffmann, Wolfgang, Shin, So-Youn, Lescuyer, Pierre, Henry, Hughes, Schurmann, Claudia, Munroe, Patricia B, Gasparini, Paolo, Pirastu, Nicola, Ciullo, Marina, Gieger, Christian, März, Winfried, Lind, Lars, Spector, Tim D, Smith, Albert V, Rudan, Igor, Wilson, James F, Polasek, Ozren, Deary, Ian J, Pirastu, Mario, Ferrucci, Luigi, Liu, Yongmei

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Systematic analysis of factors that improve homologous direct repair (HDR) efficiency in CRISPR/Cas9 technique by Di Stazio, Mariateresa, Foschi, Nicola, Athanasakis, Emmanouil, Gasparini, Paolo, d'Adamo, Adamo Pio

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Heterogeneity in Circulating Tumor Cells: The Relevance of the Stem-Cell Subset by Agnoletto, Chiara, Corrà, Fabio, Minotti, Linda, Baldassari, Federica, Crudele, Francesca, Cook, William Joseph James, Di Leva, Gianpiero, d'Adamo, Adamo Pio, Gasparini, Paolo, Volinia, Stefano

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Severe Infantile Encephalomyopathy Caused by a Mutation in COX6B1, a Nucleus-Encoded Subunit of Cytochrome C Oxidase by Massa, Valeria, Fernandez-Vizarra, Erika, Alshahwan, Saad, Bakhsh, Eman, Goffrini, Paola, Ferrero, Ileana, Mereghetti, Paolo, D'Adamo, Pio, Gasparini, Paolo, Zeviani, Massimo

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Genetic structure of Europeans: a view from the North-East by Nelis, Mari, Esko, Tõnu, Mägi, Reedik, Zimprich, Fritz, Zimprich, Alexander, Toncheva, Draga, Karachanak, Sena, Piskácková, Tereza, Balascák, Ivan, Peltonen, Leena, Jakkula, Eveliina, Rehnström, Karola, Lathrop, Mark, Heath, Simon, Galan, Pilar, Schreiber, Stefan, Meitinger, Thomas, Pfeufer, Arne, Wichmann, H-Erich, Melegh, Béla, Polgár, Noémi, Toniolo, Daniela, Gasparini, Paolo, D'Adamo, Pio, Klovins, Janis, Nikitina-Zake, Liene, Kucinskas, Vaidutis, Kasnauskiene, Jūrate, Lubinski, Jan, Debniak, Tadeusz, Limborska, Svetlana, Khrunin, Andrey, Estivill, Xavier, Rabionet, Raquel, Marsal, Sara, Julià, Antonio, Antonarakis, Stylianos E, Deutsch, Samuel, Borel, Christelle, Attar, Homa, Gagnebin, Maryline, Macek, Milan, Krawczak, Michael, Remm, Maido, Metspalu, Andres

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Variation in the Bitter‐taste Receptor Gene TAS2R38, and Adiposity in a Genetically Isolated Population in Southern Italy by Tepper, Beverly J., Koelliker, Yvonne, Zhao, Liqiang, Ullrich, Natalia V., Lanzara, Carmela, D'Adamo, Pio, Ferrara, Antonella, Ulivi, Sheila, Esposito, Laura, Gasparini, Paolo

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Parsing the differences in affected with LHON: genetic versus environmental triggers of disease conversion by Carelli, Valerio, d'Adamo, Pio, Valentino, Maria Lucia, La Morgia, Chiara, Ross-Cisneros, Fred N, Caporali, Leonardo, Maresca, Alessandra, Loguercio Polosa, Paola, Barboni, Piero, De Negri, Annamaria, Sadun, Federico, Karanjia, Rustum, Salomao, Solange R, Berezovsky, Adriana, Chicani, Filipe, Moraes, Milton, Moraes Filho, Milton, Belfort, Jr, Rubens, Sadun, Alfredo A

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TBL1Y: a new gene involved in syndromic hearing loss by Di Stazio, Mariateresa, Collesi, Chiara, Vozzi, Diego, Liu, Wei, Myers, Mike, Morgan, Anna, D Adamo, Pio Adamo, Girotto, Giorgia, Rubinato, Elisa, Giacca, Mauro, Gasparini, Paolo

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Neuron‐Derived Extracellular Vesicles miRNA Profiles Identify Children Who Experience Adverse Events after Ketamine Administration for Procedural Sedation by Lucafò, Marianna, Bidoli, Carlotta, Franzin, Martina, Eitan, Erez, Rau, Sara, Amaddeo, Alessandro, Fachin, Alice, d'Adamo, Adamo Pio, Decorti, Giuliana, Stocco, Gabriele, Barbi, Egidio, Cozzi, Giorgio

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Systematic analysis of factors that improve homologous direct repair by Di Stazio, Mariateresa, Foschi, Nicola, Athanasakis, Emmanouil, Gasparini, Paolo, d'Adamo, Adamo Pio

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Parent-of-origin-specific allelic associations among 106 genomic loci for age at menarche by Perry, John R. B., Ferreira, Teresa, Chasman, Daniel I., Esko, Tõnu, Thorleifsson, Gudmar, Albrecht, Eva, Ang, Wei Q., Corre, Tanguy, Cousminer, Diana L., Franceschini, Nora, Ganna, Andrea, Johnson, Andrew D., Kjellqvist, Sanela, Lunetta, Kathryn L., Porcu, Eleonora, Teumer, Alexander, Tikkanen, Emmi, Hottenga, Jouke-Jan, Pers, Tune H., Yerges-Armstrong, Laura M., Hua Zhao, Jing, Andrulis, Irene L., Anton-Culver, Hoda, Benitez, Javier, Blomqvist, Carl, Bolla, Manjeet K., Brenner, Hermann, Chang-Claude, Jenny, Chanock, Stephen, Chen, Jinhui, Chenevix-Trench, Georgia, Collée, J. Margriet, Davey Smith, George, Demerath, Ellen W., Dieffenbach, Aida K., Eriksson, Johan G., Flyger, Henrik, Franke, Lude, Gudbjartsson, Daniel F., Gudnason, Vilmundur, Guénel, Pascal, Guo, Suiqun, Hall, Per, Hartman, Catharina A., Heath, Andrew C., Hofman, Albert, Hooning, Maartje J., Hu, Frank B., Karasik, David, Kiel, Douglas P., Knight, Julia A., Kutalik, Zoltan, Lambrechts, Diether, Lindblom, Annika, Mägi, Reedik, Mannermaa, Arto, Martin, Nicholas G., Masson, Gisli, McArdle, Patrick F., Mihailov, Evelin, Nohr, Ellen A., Oostra, Ben A., Peacock, Munro, Peterlongo, Paolo, Peto, Julian, Postma, Dirkje S., Radice, Paolo, Rivadeneira, Fernando, Rose, Lynda M., Rudolph, Anja, Schlessinger, David, Sovio, Ulla, Tyrer, Jonathan, Vollenweider, Peter, Winqvist, Robert, Wolffenbuttel, Bruce H. R., Wright, Margaret J., Econs, Michael J., Loos, Ruth J. F., McCarthy, Mark I., Montgomery, Grant W., Rice, John P., Thorsteinsdottir, Unnur, van Duijn, Cornelia M., Alizadeh, Behrooz Z., Bergmann, Sven, Boerwinkle, Eric, Crisponi, Laura, Gasparini, Paolo, Gieger, Christian, Järvelin, Marjo-Riitta, Kraft, Peter, Ridker, Paul M., Snieder, Harold, Sørensen, Thorkild I. A., Spector, Tim D., Uitterlinden, André G., Zygmunt, Marek, Murray, Anna, Ong, Ken K.

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Sensitive Detection of Gynecological Cancer Recurrence Using Circulating Tumor DNA and Digital PCR: A Comparative Study with Serum Biochemical Markers by Balasan, Nour, Kharrat, Feras, Di Lorenzo, Giovanni, Athanasakis, Emmanouil, Bianco, Anna Monica, Conti, Andrea, Di Stazio, Maria Teresa, Butera, Giulia, Cicogna, Stefania, Mangogna, Alessandro, Romano, Federico, Ricci, Giuseppe, d'Adamo, Adamo Pio

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Whole-Genome Methylation Study of Congenital Lung Malformations in Children by Patrizi, Sara, Pederiva, Federica, d'Adamo, Adamo Pio

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Incidence of Congenital Clubfoot: Preliminary Data from Italian CeDAP Registry by Dibello, Daniela, Torelli, Lucio, Di Carlo, Valentina, d'Adamo, Adamo Pio, Faletra, Flavio, Mangogna, Alessandro, Colin, Giulia

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Genome‐wide association studies of response and side effects to the BNT162b2 vaccine in Italian healthcare workers: Increased antibody levels and side effects in carriers of the HL... by Magri, Chiara, Marchina, Eleonora, Sansone, Emanuele, D'Adamo, Adamo Pio, Cappellani, Stefania, Bonfanti, Carlo, Terlenghi, Luigina, Biasiotto, Giorgio, Zanella, Isabella, Sala, Emma, Caruso, Arnaldo, Lombardo, Massimo, Gasparini, Paolo, De Palma, Giuseppe, Gennarelli, Massimo

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A nonsense mutation of human XRCC4 is associated with adult‐onset progressive encephalocardiomyopathy by Bee, Leonardo, Nasca, Alessia, Zanolini, Alice, Cendron, Filippo, d'Adamo, Pio, Costa, Rodolfo, Lamperti, Costanza, Celotti, Lucia, Ghezzi, Daniele, Zeviani, Massimo

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Influence of age, sex and ethnicity on platelet count in five Italian geographic isolates: mild thrombocytopenia may be physiological by Biino, Ginevra, Gasparini, Paolo, D'Adamo, Pio, Ciullo, Marina, Nutile, Teresa, Toniolo, Daniela, Sala, Cinzia, Minelli, Cosetta, Gögele, Martin, Balduini, Carlo L.

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Notch Signaling Regulation in Autoinflammatory Diseases by Gratton, Rossella, Tricarico, Paola Maura, d'Adamo, Adamo Pio, Bianco, Anna Monica, Moura, Ronald, Agrelli, Almerinda, Brandão, Lucas, Zupin, Luisa, Crovella, Sergio

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Genetic characterization of northeastern Italian population isolates in the context of broader European genetic diversity by Esko, Tõnu, Mezzavilla, Massimo, Nelis, Mari, Borel, Christelle, Debniak, Tadeusz, Jakkula, Eveliina, Julia, Antonio, Karachanak, Sena, Khrunin, Andrey, Kisfali, Peter, Krulisova, Veronika, Aušrelé Kučinskiené, Zita, Rehnström, Karola, Traglia, Michela, Nikitina-Zake, Liene, Zimprich, Fritz, Antonarakis, Stylianos E, Estivill, Xavier, Glavač, Damjan, Gut, Ivo, Klovins, Janis, Krawczak, Michael, Kučinskas, Vaidutis, Lathrop, Mark, Macek, Milan, Marsal, Sara, Meitinger, Thomas, Melegh, Béla, Limborska, Svetlana, Lubinski, Jan, Paolotie, Aarno, Schreiber, Stefan, Toncheva, Draga, Toniolo, Daniela, Wichmann, H-Erich, Zimprich, Alexander, Metspalu, Mait, Gasparini, Paolo, Metspalu, Andres, D'Adamo, Pio

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