GNE-related thrombocytopenia: evidence for a mutational hotspot in the ADP/substrate domain of the GNE bifunctional enzyme von 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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MYO5B Gene Mutations: A Not Negligible Cause of Intrahepatic Cholestasis of Infancy With Normal Gamma-Glutamyl Transferase Phenotype von Matarazzo, Lorenza, Bianco, Anna Monica, Athanasakis, Emmanouil, Serveres, Marco, Francalanci, Paola, Cenacchi, Giovanna, Maggiore, Giuseppe, D’Adamo, Adamo Pio

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Meta-analysis of genome-wide association studies identifies six new Loci for serum calcium concentrations von 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 von Di Stazio, Mariateresa, Foschi, Nicola, Athanasakis, Emmanouil, Gasparini, Paolo, D'Adamo, Adamo Pio

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SDHAF1 , encoding a LYR complex-II specific assembly factor, is mutated in SDH-defective infantile leukoencephalopathy von Uziel, Graziella, Ferrero, Ileana, Horvath, Rita, Lochmüller, Hanns, Strom, Tim M, Invernizzi, Federica, Goffrini, Paola, Gasparini, Paolo, Zeviani, Massimo, Klopstock, Thomas, Prokisch, Holger, Ghezzi, Daniele, D'Adamo, Pio

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Somatic mosaic IDH1 and IDH2 mutations are associated with enchondroma and spindle cell hemangioma in Ollier disease and Maffucci syndrome von Pansuriya, Twinkal C, van Eijk, Ronald, d'Adamo, Pio, van Ruler, Maayke A J H, Kuijjer, Marieke L, Oosting, Jan, Cleton-Jansen, Anne-Marie, van Oosterwijk, Jolieke G, Verbeke, Sofie L J, Meijer, Daniëlle, van Wezel, Tom, Nord, Karolin H, Sangiorgi, Luca, Toker, Berkin, Liegl-Atzwanger, Bernadette, San-Julian, Mikel, Sciot, Raf, Limaye, Nisha, Kindblom, Lars-Gunnar, Daugaard, Soeren, Godfraind, Catherine, Boon, Laurence M, Vikkula, Miikka, Kurek, Kyle C, Szuhai, Karoly, French, Pim J, Bovée, Judith V M G

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Mutations in TTC19 cause mitochondrial complex III deficiency and neurological impairment in humans and flies von Zeviani, Massimo, Ghezzi, Daniele, Arzuffi, Paola, Zordan, Mauro, Da Re, Caterina, Lamperti, Costanza, Benna, Clara, D'Adamo, Pio, Diodato, Daria, Costa, Rodolfo, Mariotti, Caterina, Uziel, Graziella, Smiderle, Cristina

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Heterogeneity in Circulating Tumor Cells: The Relevance of the Stem-Cell Subset von 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 von 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 von 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 von 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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MPV17 encodes an inner mitochondrial membrane protein and is mutated in infantile hepatic mitochondrial DNA depletion von Marsano, René Massimiliano, Rötig, Agnes, Calvo, Sarah, Fernandez-Vizarra, Erika, Sarzi, Emmanuelle, Donnini, Claudia, Chan, Alicia, Carrara, Franco, Strisciuglio, Pietro, Spinazzola, Antonella, Viscomi, Carlo, D'Adamo, Pio, Parini, Rossella, DiMauro, Salvatore, Mootha, Vamsi K, Ferrero, Iliana, Tiranti, Valeria, Weiher, Hans, Gasparini, Paolo, Zeviani, Massimo

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Parsing the differences in affected with LHON: genetic versus environmental triggers of disease conversion von 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 von 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 von 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 von 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 von 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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MYO5B Gene Mutations von Matarazzo, Lorenza, Bianco, Anna Monica, Athanasakis, Emmanouil, Serveres, Marco, Francalanci, Paola, Cenacchi, Giovanna, Maggiore, Giuseppe, D'Adamo, Adamo Pio

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

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

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