A recognizable systemic connective tissue disorder with polyvalvular heart dystrophy and dysmorphism associated with TAB2 mutations von Ritelli, M., Morlino, S., Giacopuzzi, E., Bernardini, L., Torres, B., Santoro, G., Ravasio, V., Chiarelli, N., D'Angelantonio, D., Novelli, A., Grammatico, P., Colombi, M., Castori, M.

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OC-09Independent determinants of CAP in healthy individuals with dysmetabolism von Bianco, C., Pelusi, S., Giacopuzzi, E., Santoro, L., Malvestiti, F., Tomasi, M., Marini, I., Carpani, R., Prati, D., Valenti, L.V.C.

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Independent determinants of CAP values in healthy individuals with dysmetabolism von Bianco, C., Pelusi, S., Grigoli, E. Giacopuzzi, Santoro, L., Malvestiti, F., Tomasi, M., Marini, I., Margarita, S., Carpani, R., Prati, D., Valenti, L.

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Characterization and expression analysis of mcoin 1.1 and mcoln 1.2, the putative zebrafish co-orthologs of the gene responsible for human mucolipidosis type IV von Benini, A, Bozzato, A, Mantovanelli, S, Calvarini, L, Giacopuzzi, E, Bresciani, R, Molerp, S, Zizioli, D, Beltrame, M, Borsani, G

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Bi-allelic genetic variants in the translational GTPases GTPBP1 and GTPBP2 cause a distinct identical neurodevelopmental syndrome von Salpietro, V, Maroofian, R, Zaki, MS, Wangen, J, Ciolfi, A, Barresi, S, Efthymiou, S, Lamaze, A, Aughey, GN, Al Mutairi, F, Rad, A, Rocca, C, Calì, E, Accogli, A, Zara, F, Striano, P, Mojarrad, M, Tariq, H, Giacopuzzi, E, Taylor, JC, Oprea, G, Skrahina, V, Rehman, KU, Abd Elmaksoud, M, Bassiony, M, El Said, HG, Abdel-Hamid, MS, Al Shalan, M, Seo, G, Kim, S, Lee, H, Khang, R, Issa, MY, Elbendary, HM, Rafat, K, Marinakis, NM, Traeger-Synodinos, J, Ververi, A, Sourmpi, M, Eslahi, A, Khadivi Zand, F, Beiraghi Toosi, M, Babaei, M, Jackson, A, Hannah, MG, Bugiardini, E, Bertini, E, Kriouile, Y, El-Khorassani, M, Aguennouz, M, Groppa, S, Karashova, BM, Goraya, JS, Sultan, T, Avdjieva, D, Kathom, H, Tincheva, R, Banu, S, Veggiotti, P, Verrotti, A, Lanari, M, Savasta, S, Macaya, A, Garavaglia, B, Borgione, E, Papacostas, S, Vikelis, M, Chelban, V, Kaiyrzhanov, R, Cortese, A, Sullivan, R, Papanicolaou, EZ, Dardiotis, E, Maqbool, S, Ibrahim, S, Kirmani, S, Rana, NN, Atawneh, O, Lim, SY, Zuccotti, GV, Marseglia, GL, Esposito, S, Shaikh, F, Cogo, P, Corsello, G, Mangano, S, Nardello, R, Mangano, D, Scardamaglia, A, Koutsis, G, Scuderi, C, Ferrara, P, Morello, G, Zollo, M, Berni-Canani, R, Terracciano, LM, Sisto, A, Di Fabio, S, Strano, F, Scorrano, G

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Structural and non-coding variants increase the diagnostic yield of clinical whole genome sequencing for rare diseases von Pagnamenta, AT, Camps, C, Giacopuzzi, E, Taylor, JM, Hashim, M, Calpena, E, Kaisaki, PJ, Hashimoto, A, Yu, J, Sanders, E, Schwessinger, R, Hughes, JR, Lunter, G, Dreau, H, Ferla, M, Lange, L, Kesim, Y, Ragoussis, V, Vavoulis, DV, Allroggen, H, Ansorge, O, Babbs, C, Banka, S, Baños-Piñero, B, Beeson, D, Ben-Ami, T, Bennett, DL, Bento, C, Blair, E, Brasch-Andersen, C, Bull, KR, Cario, H, Cilliers, D, Conti, V, Davies, EG, Dhalla, F, Dacal, BD, Dong, Y, Dunford, JE, Guerrini, R, Harris, AL, Hartley, J, Hollander, G, Javaid, K, Kane, M, Kelly, D, Knight, SJL, Kreins, AY, Kvikstad, EM, Langman, CB, Lester, T, Lines, KE, Lord, SR, Lu, X, Mansour, S, Manzur, A, Maroofian, R, Marsden, B, Mason, J, McGowan, SJ, Mei, D, Mlcochova, H, Murakami, Y, Németh, AH, Okoli, S, Ormondroyd, E, Ousager, LB, Palace, J, Patel, SY, Pentony, MM, Pugh, C, Rad, A, Ramesh, A, Riva, SG, Roberts, I, Roy, N, Salminen, O, Schilling, KD, Scott, C, Sen, A, Smith, C, Stevenson, M, Thakker, RV, Twigg, SRF, Uhlig, HH, van Wijk, R, Vona, B, Wall, S, Wang, J, Watkins, H, Zak, J, Schuh, AH, Kini, U, Wilkie, AOM, Popitsch, N, Taylor, JC

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Identification of Circulating Genomic and Metabolic Biomarkers in Intrahepatic Cholangiocarcinoma von Winter, H, Kaisaki, PJ, Harvey, J, Giacopuzzi, E, Ferla, MP, Pentony, MM, Knight, SJL, Sharma, RA, Taylor, JC, McCullagh, JSO

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Next Generation Sequencing Analysis in Early Onset Dementia Patients von Bonvicini, C, Scassellati, C, Benussi, L, Di Maria, E, Maj, C, Ciani, M, Fostinelli, S, Mega, A, Bocchetta, M, Lanzi, G, Giacopuzzi, E, Ferraboli, S, Pievani, M, Fedi, V, Defanti, CA, Giliani, S, Ghidoni, R, Frisoni, GB, Gennarelli, M

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A novel homozygous mutation in GAD1 gene described in a schizophrenic patient impairs activity and dimerization of GAD67 enzyme von Magri, Chiara, Giacopuzzi, Edoardo, La Via, Luca, Bonini, Daniela, Ravasio, Viola, Elhussiny, Mohammed E. A., Orizio, Flavia, Gangemi, Fabrizio, Valsecchi, Paolo, Bresciani, Roberto, Barbon, Alessandro, Vita, Antonio, Gennarelli, Massimo

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Changing clinical and pathological features of gastric cancer over time von Marrelli, D., Pedrazzani, C., Morgagni, P., de Manzoni, G., Pacelli, F., Coniglio, A., Marchet, A., Saragoni, L., Giacopuzzi, S., Roviello, F.

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Neoadjuvant Concurrent Chemoradiotherapy for Locally Advanced Esophageal Cancer in a Single High-Volume Center von Zanoni, A., Verlato, G., Giacopuzzi, S., Weindelmayer, J., Casella, F., Pasini, F., Zhao, E., de Manzoni, G.

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Amplicon-based semiconductor sequencing of human exomes: performance evaluation and optimization strategies von Damiati, E., Borsani, G., Giacopuzzi, Edoardo

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Enhanced recovery after surgery protocol in patients undergoing esophagectomy for cancer: a single center experience von Giacopuzzi, S., Weindelmayer, J., Treppiedi, E., Bencivenga, M., Ceola, M., Priolo, S., Carlini, M., de Manzoni, G.

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Familial Autosomal Dominant Hyponatremia With Reset Osmostat: FR-PO556 von Zitt, Emanuel, Lines, Kate E., Hannan, Fadil, Pagnamenta, Alistair T., Giacopuzzi, Edoardo, Taylor, Jenny C., Lhotta, Karl, Thakker, Rajesh V.

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The amount of cells with Signet Ring Cell morphology has a prognostic impact in poorly cohesive gastric carcinoma von Bencivenga, M., Treppiedi, E., Verlato, G., Mengardo, V., Giacopuzzi, S., de Manzoni, G.

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Tailored treatment for signet ring cell gastric cancer von Mengardo, V., Treppiedi, E., Bencivenga, M., Dal Cero, Mariagiulia, Giacopuzzi, S.

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Author Correction: A novel homozygous mutation in GAD1 gene described in a schizophrenic patient impairs activity and dimerization of GAD67 enzyme von Magri, Chiara, Giacopuzzi, Edoardo, La Via, Luca, Bonini, Daniela, Ravasio, Viola, Elhussiny, Mohammed E. A., Orizio, Flavia, Gangemi, Fabrizio, Valsecchi, Paolo, Bresciani, Roberto, Barbon, Alessandro, Vita, Antonio, Gennarelli, Massimo

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Association between baseline serum vascular endothelial growth factor levels and response to electroconvulsive therapy von Minelli, A., Maffioletti, E., Bortolomasi, M., Conca, A., Zanardini, R., Rillosi, L., Abate, M., Giacopuzzi, M., Maina, G., Gennarelli, M., Bocchio-Chiavetto, L.

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Response to induction therapy in oesophageal and cardia carcinoma using Mandard tumour regression grade or size of residual foci von Verlato, G., Zanoni, A., Tomezzoli, A., Minicozzi, A., Giacopuzzi, S., Di Cosmo, M., Franceschetti, I., de Manzoni, G.

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2394 Genetic polymorphisms and histology predict response and survival after neoadjuvant chemoradiation in locally advanced esophageal cancer von Pasini, F, Bertolaso, L, De Manzoni, G, Zanoni, A, Modena, Y, Paganin, P, Menon, D, Pezzolo, E, Barile, C, Bononi, A, Crepaldi, G, Giacopuzzi, S, Gusella, M

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