VarGenius executes cohort-level DNA-seq variant calling and annotation and allows to manage the resulting data through a PostgreSQL database von Musacchia, F, Ciolfi, A, Mutarelli, M, Bruselles, A, Castello, R, Pinelli, M, Basu, S, Banfi, S, Casari, G, Tartaglia, M, Nigro, V

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Expanding the clinical and molecular spectrum of PRMT7 mutations: 3 additional patients and review von Agolini, E., Dentici, M.L., Bellacchio, E., Alesi, V., Radio, F.C., Torella, A., Musacchia, F., Tartaglia, M., Dallapiccola, B., Nigro, V., Digilio, M.C., Novelli, A.

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De novo assembly and sex-specific transcriptome profiling in the sand fly Phlebotomus perniciosus (Diptera, Phlebotominae), a major Old World vector of Leishmania infantum von Petrella, V, Aceto, S, Musacchia, F, Colonna, V, Robinson, M, Benes, V, Cicotti, G, Bongiorno, G, Gradoni, L, Volf, P, Salvemini, M

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A Fuzzy Scale-Space Approach to Feature-Based Image Representation and Retrieval von Ceccarelli, M., Musacchia, F., Petrosino, A.

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O.27Ultra-exome: a new tool to solve the unsolved NMD von Torella, A., Onore, M., Del Vecchio Blanco, F., Musacchia, F., Piluso, G., Nigro, V.

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A draft genome sequence of the elusive giant squid, Architeuthis dux von da Fonseca, Rute R, Couto, Alvarina, Machado, Andre M, Brejova, Brona, Albertin, Carolin B, Silva, Filipe, Gardner, Paul, Baril, Tobias, Hayward, Alex, Campos, Alexandre, Ribeiro, Ângela M, Barrio-Hernandez, Inigo, Hoving, Henk-Jan, Tafur-Jimenez, Ricardo, Chu, Chong, Frazão, Barbara, Petersen, Bent, Peñaloza, Fernando, Musacchia, Francesco, Alexander, Graham C, Osório, Hugo, Winkelmann, Inger, Simakov, Oleg, Rasmussen, Simon, Rahman, M Ziaur, Pisani, Davide, Vinther, Jakob, Jarvis, Erich, Zhang, Guojie, Strugnell, Jan M, Castro, L Filipe C, Fedrigo, Olivier, Patricio, Mateus, Li, Qiye, Rocha, Sara, Antunes, Agostinho, Wu, Yufeng, Ma, Bin, Sanges, Remo, Vinar, Tomas, Blagoev, Blagoy, Sicheritz-Ponten, Thomas, Nielsen, Rasmus, Gilbert, M Thomas P

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De novo assembly and sex-specific transcriptome profiling in the sand fly Phlebotomus perniciosus (Diptera, Phlebotominae), a major Old World vector of Leishmania infantum von Petrella, V, Aceto, S, Musacchia, F, Colonna, V, Robinson, Mark D, Benes, V, Cicotti, G, Bongiorno, G, Gradoni, L, Volf, P, Salvemini, M

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Retinal dystrophy in an individual carrying a de novo missense variant of SMARCA4 von Cappuccio, Gerarda, Brunetti‐Pierri, Raffaella, Torella, Annalaura, Pinelli, Michele, Castello, Raffaele, Casari, Giorgio, Nigro, Vincenzo, Banfi, Sandro, Simonelli, Francesca, Brunetti‐Pierri, Nicola

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Exome reanalysis and proteomic profiling identified TRIP4 as a novel cause of cerebellar hypoplasia and spinal muscular atrophy (PCH1) von Töpf, A, Pyle, A, Griffin, H, Matalonga, L, Schon, K, Cohen, E, Cuesta, I, Danis, D, Denommé-Pichon, AS, Duffourd, Y, Gilissen, C, Johari, M, Laurie, S, Li, S, Nelson, I, Paramonov, I, Peters, S, Prasanth, S, Robinson, P, Sablauskas, K, Savarese, M, Steyaert, W, van der Velde, JK, Vitobello, A, Baets, J, Beijer, D, Bonne, G, Cossins, J, Evangelista, T, Ferlini, A, Hackman, P, Hanna, MG, Houlden, H, Lau, J, Lochmüller, H, Macken, WL, Musacchia, F, Nascimento, A, Natera-de Benito, D, Nigro, V, Piluso, G, Pini, V, Pitceathly, RDS, Polavarapu, K, Cruz, PMR, Sarkozy, A, Selvatici, R, Thompson, R, Torella, A, Udd, B, Van de Vondel, L, Vandrovcova, J, Zaharieva, I, Sickmann, A, Schara–Schmidt, U, Hentschel, A, Chinnery, PF, Kölbel, H, Roos, A, Horvath, R

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Additional file 1: of VarGenius executes cohort-level DNA-seq variant calling and annotation and allows to manage the resulting data through a PostgreSQL database von F. Musacchia, A. Ciolfi, M. Mutarelli, A. Bruselles, R. Castello, M. Pinelli, S. Basu, S. Banfi, G. Casari, M. Tartaglia, V. Nigro

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Additional file 2: of VarGenius executes cohort-level DNA-seq variant calling and annotation and allows to manage the resulting data through a PostgreSQL database von F. Musacchia, A. Ciolfi, M. Mutarelli, A. Bruselles, R. Castello, M. Pinelli, S. Basu, S. Banfi, G. Casari, M. Tartaglia, V. Nigro

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Additional file 4: Table S2. of De novo assembly and sex-specific transcriptome profiling in the sand fly Phlebotomus perniciosus (Diptera, Phlebotominae), a major Old World vector... von V. Petrella, S. Aceto, F. Musacchia, V. Colonna, M. Robinson, V. Benes, G. Cicotti, G. Bongiorno, L. Gradoni, P. Volf, M. Salvemini

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Additional file 9: Table S7. of De novo assembly and sex-specific transcriptome profiling in the sand fly Phlebotomus perniciosus (Diptera, Phlebotominae), a major Old World vector... von V. Petrella, S. Aceto, F. Musacchia, V. Colonna, M. Robinson, V. Benes, G. Cicotti, G. Bongiorno, L. Gradoni, P. Volf, M. Salvemini

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Additional file 15: Table S11. of De novo assembly and sex-specific transcriptome profiling in the sand fly Phlebotomus perniciosus (Diptera, Phlebotominae), a major Old World vect... von V. Petrella, S. Aceto, F. Musacchia, V. Colonna, M. Robinson, V. Benes, G. Cicotti, G. Bongiorno, L. Gradoni, P. Volf, M. Salvemini

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Additional file 12: Table S9. of De novo assembly and sex-specific transcriptome profiling in the sand fly Phlebotomus perniciosus (Diptera, Phlebotominae), a major Old World vecto... von V. Petrella, S. Aceto, F. Musacchia, V. Colonna, M. Robinson, V. Benes, G. Cicotti, G. Bongiorno, L. Gradoni, P. Volf, M. Salvemini

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Additional file 6: Table S4. of De novo assembly and sex-specific transcriptome profiling in the sand fly Phlebotomus perniciosus (Diptera, Phlebotominae), a major Old World vector... von V. Petrella, S. Aceto, F. Musacchia, V. Colonna, M. Robinson, V. Benes, G. Cicotti, G. Bongiorno, L. Gradoni, P. Volf, M. Salvemini

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Additional file 17: Table S12. of De novo assembly and sex-specific transcriptome profiling in the sand fly Phlebotomus perniciosus (Diptera, Phlebotominae), a major Old World vect... von V. Petrella, S. Aceto, F. Musacchia, V. Colonna, M. Robinson, V. Benes, G. Cicotti, G. Bongiorno, L. Gradoni, P. Volf, M. Salvemini

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Additional file 11: Figure S3. of De novo assembly and sex-specific transcriptome profiling in the sand fly Phlebotomus perniciosus (Diptera, Phlebotominae), a major Old World vect... von V. Petrella, S. Aceto, F. Musacchia, V. Colonna, M. Robinson, V. Benes, G. Cicotti, G. Bongiorno, L. Gradoni, P. Volf, M. Salvemini

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Additional file 7: Table S5. of De novo assembly and sex-specific transcriptome profiling in the sand fly Phlebotomus perniciosus (Diptera, Phlebotominae), a major Old World vector... von V. Petrella, S. Aceto, F. Musacchia, V. Colonna, M. Robinson, V. Benes, G. Cicotti, G. Bongiorno, L. Gradoni, P. Volf, M. Salvemini

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Additional file 14: Figure S4. of De novo assembly and sex-specific transcriptome profiling in the sand fly Phlebotomus perniciosus (Diptera, Phlebotominae), a major Old World vect... von V. Petrella, S. Aceto, F. Musacchia, V. Colonna, M. Robinson, V. Benes, G. Cicotti, G. Bongiorno, L. Gradoni, P. Volf, M. Salvemini

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