Severe imbalance of cell proliferation and apoptosis in the left colon and in the rectosigmoid tract in subjects with a history of large adenomas by Anti, M, Armuzzi, A, Morini, S, Iascone, E, Pignataro, G, Coco, C, Lorenzetti, R, Paolucci, M, Covino, M, Gasbarrini, A, Vecchio, FM, Gasbarrini, G

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Early Seizure Activity Accelerates Depletion of Hippocampal Neural Stem Cells and Impairs Spatial Discrimination in an Alzheimer’s Disease Model by Fu, Chia-Hsuan, Iascone, Daniel Maxim, Petrof, Iraklis, Hazra, Anupam, Zhang, Xiaohong, Pyfer, Mark S., Tosi, Umberto, Corbett, Brian F., Cai, Jingli, Lee, Jason, Park, Jin, Iacovitti, Lorraine, Scharfman, Helen E., Enikolopov, Grigori, Chin, Jeannie

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Clinical presentation of calmodulin mutations: the International Calmodulinopathy Registry by Crotti, Lia, Spazzolini, Carla, Nyegaard, Mette, Overgaard, Michael T, Kotta, Maria-Christina, Dagradi, Federica, Sala, Luca, Aiba, Takeshi, Ayers, Mark D, Baban, Anwar, Barc, Julien, Beach, Cheyenne M, Behr, Elijah R, Bos, J Martijn, Cerrone, Marina, Covi, Peter, Cuneo, Bettina, Denjoy, Isabelle, Donner, Birgit, Elbert, Adrienne, Eliasson, Håkan, Etheridge, Susan P, Fukuyama, Megumi, Girolami, Francesca, Hamilton, Robert, Horie, Minoru, Iascone, Maria, Jaimez, Juan Jiménez, Jensen, Henrik Kjærulf, Kannankeril, Prince J, Kaski, Juan P, Makita, Naomasa, Muñoz-Esparza, Carmen, Odland, Hans H, Ohno, Seiko, Papagiannis, John, Porretta, Alessandra Pia, Prandstetter, Christopher, Probst, Vincent, Robyns, Tomas, Rosenthal, Eric, Rosés-Noguer, Ferran, Sekarski, Nicole, Singh, Anoop, Spentzou, Georgia, Stute, Fridrike, Tfelt-Hansen, Jacob, Till, Jan, Tobert, Kathryn E, Vinocur, Jeffrey M, Webster, Gregory, Wilde, Arthur A M, Wolf, Cordula M, Ackerman, Michael J, Schwartz, Peter J

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A Novel HRAS Mutation Independently Contributes to Left Ventricular Hypertrophy in a Family with a Known MYH7 Mutation by Sana, Maria Elena, Quilliam, Lawrence A, Spitaleri, Andrea, Pezzoli, Laura, Marchetti, Daniela, Lodrini, Chiara, Candiago, Elisabetta, Lincesso, Anna Rita, Ferrazzi, Paolo, Iascone, Maria

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Fish Oil and Postoperative Atrial Fibrillation: The Omega-3 Fatty Acids for Prevention of Post-operative Atrial Fibrillation (OPERA) Randomized Trial by Mozaffarian, Dariush, Marchioli, Roberto, Macchia, Alejandro, Silletta, Maria G, Ferrazzi, Paolo, Gardner, Timothy J, Latini, Roberto, Libby, Peter, Lombardi, Federico, O’Gara, Patrick T, Page, Richard L, Tavazzi, Luigi, Tognoni, Gianni

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De Novo Variants in CNOT1, a Central Component of the CCR4-NOT Complex Involved in Gene Expression and RNA and Protein Stability, Cause Neurodevelopmental Delay by Vissers, Lisenka E.L.M., Kalvakuri, Sreehari, de Boer, Elke, Geuer, Sinje, Oud, Machteld, van Outersterp, Inge, Kwint, Michael, Witmond, Melde, Kersten, Simone, Polla, Daniel L., Weijers, Dilys, Begtrup, Amber, McWalter, Kirsty, Ruiz, Anna, Gabau, Elisabeth, Morton, Jenny E.V., Griffith, Christopher, Weiss, Karin, Gamble, Candace, Bartley, James, Vernon, Hilary J., Brunet, Kendra, Ruivenkamp, Claudia, Kant, Sarina G., Kruszka, Paul, Larson, Austin, Afenjar, Alexandra, Billette de Villemeur, Thierry, Nugent, Kimberly, Raymond, F. Lucy, Venselaar, Hanka, Demurger, Florence, Soler-Alfonso, Claudia, Li, Dong, Bhoj, Elizabeth, Hayes, Ian, Hamilton, Nina Powell, Ahmad, Ayesha, Fisher, Rachel, van den Born, Myrthe, Willems, Marjolaine, Sorlin, Arthur, Delanne, Julian, Moutton, Sebastien, Christophe, Philippe, Mau-Them, Frederic Tran, Vitobello, Antonio, Goel, Himanshu, Massingham, Lauren, Phornphutkul, Chanika, Schwab, Jennifer, Keren, Boris, Charles, Perrine, Vreeburg, Maaike, De Simone, Lenika, Hoganson, George, Iascone, Maria, Milani, Donatella, Evenepoel, Lucie, Revencu, Nicole, Ward, D. Isum, Burns, Kaitlyn, Krantz, Ian, Raible, Sarah E., Murrell, Jill R., Wood, Kathleen, Cho, Megan T., van Bokhoven, Hans, Muenke, Maximilian, Kleefstra, Tjitske, Bodmer, Rolf, de Brouwer, Arjan P.M.

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OC.08.9: GEOGRAPHIC DIFFERENCES IN PATIENTS WITH BARRETT'S ESOPHAGUS: PRELIMINAR RESULTS OF THE IOBER PROJECT by Iascone, V., Dajti, E., Wy Chiu, P., Eusebi, L.H., Colecchia, L., Panarese, A., Conigliaro, R.L., Pukitis, A., Chialà, C., Pallio, S., Hs Lau, L., Kl Chan, F., Bazzoli, F., Zagari, R.M.

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The spectrum of heart defects in the TRAF7 -related multiple congenital anomalies-intellectual disability syndrome by Pisan, Elise, De Luca, Chiara, Brancati, Francesco, Sanchez Russo, Rossana, Li, Dong, Bhoj, Elizabeth, Wenger, Tara, Marwaha, Ashish, Johnson, Nicole, Beneteau, Claire, Brischoux-Boucher, Elise, Houge, Gunnar, Paulsen, Julie, Hammer, Trine Bjørg, Ek, Jakob, Schweitzer, Daniela, Russell, Bianca E, Dutra-Clarke, Marina, Nelson, Stanley, Douine, Emilie D, Corona, Rosario I, Dudding, Tracy, Thomson, Hannah, Low, Karen, Belnap, Newell, Iascone, Maria, Priolo, Manuela, Carli, Diana, Mussa, Alessandro, Bijlsma, Emilia K, Kopp, Nathan, Jais, Jean-Philippe, Amiel, Jeanne, Gordon, Christopher T

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A novel homozygous disruptive PRF1 variant (K285Sfs4) causes very early-onset of familial hemophagocytic lymphohystiocytosis type 2 by Saettini, F., Castelli, I., Provenzi, M., Fazio, G., Quadri, M., Cazzaniga, G., Sala, S., Dell'Acqua, F., Sieni, E., Coniglio, M. L., Pezzoli, L., Iascone, M., Vendemini, F., Balduzzi, A. C., Biondi, A., Rizzari, C., Bonanomi, S.

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Heterozygous ANKRD17 loss-of-function variants cause a syndrome with intellectual disability, speech delay, and dysmorphism by Chopra, Maya, McEntagart, Meriel, Clayton-Smith, Jill, Platzer, Konrad, Shukla, Anju, Girisha, Katta M., Kaur, Anupriya, Kaur, Parneet, Pfundt, Rolph, Veenstra-Knol, Hermine, Mancini, Grazia M.S., Cappuccio, Gerarda, Brunetti-Pierri, Nicola, Kortüm, Fanny, Hempel, Maja, Denecke, Jonas, Lehman, Anna, Kleefstra, Tjitske, Stuurman, Kyra E., Wilke, Martina, Thompson, Michelle L., Bebin, E. Martina, Bijlsma, Emilia K., Hoffer, Mariette J.V., Peeters-Scholte, Cacha, Slavotinek, Anne, Weiss, William A., Yip, Tiffany, Hodoglugil, Ugur, Whittle, Amy, diMonda, Janette, Neira, Juanita, Yang, Sandra, Kirby, Amelia, Pinz, Hailey, Lechner, Rosan, Sleutels, Frank, Helbig, Ingo, McKeown, Sarah, Helbig, Katherine, Willaert, Rebecca, Juusola, Jane, Semotok, Jennifer, Hadonou, Medard, Short, John, Yachelevich, Naomi, Lala, Sajel, Fernández-Jaen, Alberto, Pelayo, Janvier Porta, Klöckner, Chiara, Kamphausen, Susanne B., Abou Jamra, Rami, Arelin, Maria, Innes, A. Micheil, Niskakoski, Anni, Amin, Sam, Williams, Maggie, Evans, Julie, Smithson, Sarah, Smedley, Damian, de Burca, Anna, Kini, Usha, Delatycki, Martin B., Gallacher, Lyndon, Yeung, Alison, Pais, Lynn, Field, Michael, Martin, Ellenore, Charles, Perrine, Courtin, Thomas, Keren, Boris, Iascone, Maria, Cereda, Anna, Poke, Gemma, Abadie, Véronique, Chalouhi, Christel, Parthasarathy, Padmini, Halliday, Benjamin J., Robertson, Stephen P., Lyonnet, Stanislas, Amiel, Jeanne, Gordon, Christopher T.

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Biallelic MADD variants cause a phenotypic spectrum ranging from developmental delay to a multisystem disorder by Schneeberger, Pauline E, Kortüm, Fanny, Korenke, Georg Christoph, Alawi, Malik, Santer, René, Woidy, Mathias, Buhas, Daniela, Fox, Stephanie, Juusola, Jane, Alfadhel, Majid, Webb, Bryn D, Coci, Emanuele G, Abou Jamra, Rami, Siekmeyer, Manuela, Biskup, Saskia, Heller, Corina, Maier, Esther M, Javaher-Haghighi, Poupak, Bedeschi, Maria F, Ajmone, Paola F, Iascone, Maria, Peeters, Hilde, Ballon, Katleen, Jaeken, Jaak, Rodríguez Alonso, Aroa, Palomares-Bralo, María, Santos-Simarro, Fernando, Meuwissen, Marije E C, Beysen, Diane, Kooy, R Frank, Houlden, Henry, Murphy, David, Doosti, Mohammad, Karimiani, Ehsan G, Mojarrad, Majid, Maroofian, Reza, Noskova, Lenka, Kmoch, Stanislav, Honzik, Tomas, Cope, Heidi, Sanchez-Valle, Amarilis, Gelb, Bruce D, Kurth, Ingo, Hempel, Maja, Kutsche, Kerstin

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Causative Role of the SLC6A1 p. Asp451Gly Variant in a Patient with Combined Dystonia and Neurodevelopmental Disorder by Romito, Luigi M., Colucci, Fabiana, Leta, Valentina, Panteghini, Celeste, Telese, Roberta, Tolva, Gianluca, Villa, Roberta, Elia, Antonio E., Eleopra, Roberto, Peron, Angela, Garavaglia, Barbara, Iascone, Maria

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Spinal muscular atrophy: from tissue specificity to therapeutic strategies by Iascone, Daniel M, Henderson, Christopher E, Lee, Justin C

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Causative Role of the SLC6A1 p.Asp451Gly Variant in a Patient with Combined Dystonia and Neurodevelopmental Disorder by Romito, Luigi M, Colucci, Fabiana, Leta, Valentina, Panteghini, Celeste, Telese, Roberta, Tolva, Gianluca, Villa, Roberta, Elia, Antonio E, Eleopra, Roberto, Peron, Angela, Garavaglia, Barbara, Iascone, Maria

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Development, behaviour and sensory processing in Marshall–Smith syndrome and Malan syndrome: phenotype comparison in two related syndromes by Mulder, P. A., Balkom, I. D. C., Landlust, A. M., Priolo, M., Menke, L. A., Acero, I. H., Alkuraya, F. S., Arias, P., Bernardini, L., Bijlsma, E. K., Cole, T., Coubes, C., Dapia, I., Davies, S., Di Donato, N., Elcioglu, N. H., Fahrner, J. A., Foster, A., González, N. G., Huber, I., Iascone, M., Kaiser, A.‐S., Kamath, A., Kooblall, K., Lapunzina, P., Liebelt, J., Lynch, S. A., Maas, S. M., Mammì, C., Mathijssen, I. B., McKee, S., Mirzaa, G. M., Montgomery, T., Neubauer, D., Neumann, T. E., Pintomalli, L., Pisanti, M. A., Plomp, A. S., Price, S., Salter, C., Santos‐Simarro, F., Sarda, P., Schanze, D., Segovia, M., Shaw‐Smith, C., Smithson, S., Suri, M., Tatton‐Brown, K., Tenorio, J., Thakker, R. V., Valdez, R. M., Van Haeringen, A., Van Hagen, J. M., Zenker, M., Zollino, M., Dunn, W. W., Piening, S., Hennekam, R. C.

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Cavotricuspid Isthmus Ablation and Subcutaneous Monitoring Device Implantation in a 2-Year-Old Baby with 2 SCN5A Mutations, Sinus Node Dysfunction, Atrial Flutter Recurrences, and... by FILIPPO, PAOLO DE, FERRARI, PAOLA, IASCONE, MARIA, RACHELI, MARCO, SENNI, MICHELE

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Differential pattern of myocardial remodelling in genetically determined and load-dependent hypertrophy in humans by Gervasi, A, Mangiaracina, C, Madeddu, D, Frati, C, Graiani, G, Falco, A, Cavalli, S, Lorusso, B, Rossetti, P, Lagrasta, C.A, Urbanek, K, Quaini, E, Ferrazzi, P, Iascone, M, Quaini, F

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Phenotype delineation of ZNF462 related syndrome by Kruszka, Paul, Hu, Tommy, Hong, Sungkook, Signer, Rebecca, Cogné, Benjamin, Isidor, Betrand, Mazzola, Sarah E., Giltay, Jacques C., Gassen, Koen L. I., England, Eleina M., Pais, Lynn, Ockeloen, Charlotte W., Sanchez‐Lara, Pedro A., Kinning, Esther, Adams, Darius J., Treat, Kayla, Torres‐Martinez, Wilfredo, Bedeschi, Maria F., Iascone, Maria, Blaney, Stephanie, Bell, Oliver, Tan, Tiong Y., Delrue, Marie‐Ange, Jurgens, Julie, Barry, Brenda J., Engle, Elizabeth C., Savage, Sarah K., Fleischer, Nicole, Martinez‐Agosto, Julian A., Boycott, Kym, Zackai, Elaine H., Muenke, Maximilian

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Coronary pathology of inherited generalized arterial calcification of infancy: a case report by Federici, Duccio, Torii, Sho, Ciuffreda, Matteo, Galletti, Lorenzo, Lorini, Luca, Bonanomi, Ezio, Gianatti, Andrea, Iascone, Maria, Park, Joohyung, Guo, Liang, Romero, Maria E., Kolodgie, Frank D., Guagliumi, Giulio, Virmani, Renu

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A clustering of heterozygous missense variants in the crucial chromatin modifier WDR5 defines a new neurodevelopmental disorder by Snijders Blok, Lot, Verseput, Jolijn, Rots, Dmitrijs, Venselaar, Hanka, Innes, A. Micheil, Stumpel, Connie, Õunap, Katrin, Reinson, Karit, Seaby, Eleanor G., McKee, Shane, Burton, Barbara, Kim, Katherine, van Hagen, Johanna M., Waisfisz, Quinten, Joset, Pascal, Steindl, Katharina, Rauch, Anita, Li, Dong, Zackai, Elaine H., Sheppard, Sarah E., Keena, Beth, Hakonarson, Hakon, Roos, Andreas, Kohlschmidt, Nicolai, Cereda, Anna, Iascone, Maria, Rebessi, Erika, Kernohan, Kristin D., Campeau, Philippe M., Millan, Francisca, Taylor, Jesse A., Lochmüller, Hanns, Higgs, Martin R., Goula, Amalia, Bernhard, Birgitta, Velasco, Danita J., Schmanski, Andrew A., Stark, Zornitza, Gallacher, Lyndon, Pais, Lynn, Marcogliese, Paul C., Yamamoto, Shinya, Raun, Nicholas, Jakub, Taryn E., Kramer, Jamie M., den Hoed, Joery, Fisher, Simon E., Brunner, Han G., Kleefstra, Tjitske

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