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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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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Sensitive Detection of Gynecological Cancer Recurrence Using Circulating Tumor DNA and Digital PCR: A Comparative Study with Serum Biochemical Markers von 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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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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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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Unraveling the Epigenetic Tapestry: Decoding the Impact of Epigenetic Modifications in Hidradenitis Suppurativa Pathogenesis von Nardacchione, Elena Maria, Tricarico, Paola Maura, Moura, Ronald, d'Adamo, Adamo Pio, Thasneem, Ayshath, Suleman, Muhammad, Marzano, Angelo Valerio, Crovella, Sergio, Moltrasio, Chiara

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Genetic bases of C7 deficiency: systematic review and report of a novel deletion determining functional hemizygosity von Balduit, Andrea, Bianco, Anna Monica, Mangogna, Alessandro, Zicari, Anna Maria, Leonardi, Lucia, Cinicola, Bianca Laura, Capponi, Martina, Tommasini, Alberto, Agostinis, Chiara, d'Adamo, Adamo Pio, Bulla, Roberta

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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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A rare loss-of-function genetic mutation suggest a role of dermcidin deficiency in hidradenitis suppurativa pathogenesis von Tricarico, Paola Maura, Gratton, Rossella, Dos Santos-Silva, Carlos André, de Moura, Ronald Rodrigues, Ura, Blendi, Sommella, Eduardo, Campiglia, Pietro, Del Vecchio, Cecilia, Moltrasio, Chiara, Berti, Irene, D'Adamo, Adamo Pio, Elsherbini, Ahmed M A, Staudenmaier, Lena, Chersi, Karin, Boniotto, Michele, Krismer, Bernhard, Schittek, Birgit, Crovella, Sergio

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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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Plant Antimicrobial Peptides as Potential Tool for Topic Treatment of Hidradenitis Suppurativa von Dos Santos-Silva, Carlos André, Tricarico, Paola Maura, Vilela, Lívia Maria Batista, Roldan-Filho, Ricardo Salas, Amador, Vinícius Costa, d'Adamo, Adamo Pio, Rêgo, Mireli de Santana, Benko-Iseppon, Ana Maria, Crovella, Sergio

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Could the MED13 mutations manifest as a Kabuki‐like syndrome? von De Nardi, Laura, Faletra, Flavio, D'Adamo, Adamo Pio, Bianco, Anna Monica Rosaria, Athanasakis, Emmanouil, Bruno, Irene, Barbi, Egidio

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Polygenic Score: A Tool for Evaluating the Genetic Background of Sporadic Hidradenitis Suppurativa von Moltrasio, Chiara, Moura, Ronald, Conti, Andrea, Fania, Luca, Jaschke, Wolfram, Caposiena Caro, Raffaele Dante, Chersi, Karin, Margiotta, Flavia Manzo, Di Cesare, Antonella, Rosi, Elia, Regensberger, Florian, Boeckle, Barbara, Frischhut, Nina, Cappellani, Stefania, Del Vecchio, Cecilia, Nardacchione, Elena Maria, Zalaudek, Iris, von Stebut, Esther, Berti, Irene, Boniotto, Michele, d’Adamo, Adamo Pio, Schmuth, Matthias, Dini, Valentina, Prignano, Francesca, Abeni, Damiano, Chiricozzi, Andrea, Marzano, Angelo Valerio, Crovella, Sergio, Tricarico, Paola Maura

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A loss‐of‐function NCSTN mutation associated with familial Dowling Degos disease and hidradenitis suppurativa von de Oliveira, Ana Sofia Lima Estevao, de Siqueira, Roberta Cardoso, Nait‐Meddour, Cécile, Tricarico, Paola Maura, Moura, Ronald, Agrelli, Almerinda, d'Adamo, Adamo Pio, Jamain, Stéphane, Crovella, Sergio, de Fátima Medeiros Brito, Maria, Boniotto, Michele, Brandão, Lucas André Cavalcanti

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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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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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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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High prevalence of rare FBLIM1 gene variants in an Italian cohort of patients with Chronic Non-bacterial Osteomyelitis (CNO) von d’Adamo, Adamo Pio, Bianco, Anna Monica, Ferrara, Giovanna, La Bianca, Martina, Insalaco, Antonella, Tommasini, Alberto, Pardeo, Manuela, Cattalini, Marco, La Torre, Francesco, Finetti, Martina, Alizzi, Clotilde, Simonini, Gabriele, Messia, Virginia, Pastore, Serena, Cimaz, Rolando, Gattorno, Marco, Taddio, Andrea

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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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