2021
Autores
Zurek, B; Ellwanger, K; Vissers, LELM; Schüle, R; Synofzik, M; Töpf, A; de Voer, RM; Laurie, S; Matalonga, L; Gilissen, C; Ossowski, S; ’t Hoen, PAC; Vitobello, A; Schulze Hentrich, JM; Riess, O; Brunner, HG; Brookes, AJ; Rath, A; Bonne, G; Gumus, G; Verloes, A; Hoogerbrugge, N; Evangelista, T; Harmuth, T; Swertz, M; Spalding, D; Hoischen, A; Beltran, S; Graessner, H; Haack, TB; Zurek, B; Ellwanger, K; Demidov, G; Sturm, M; Kessler, C; Wayand, M; Wilke, C; Traschütz, A; Schöls, L; Hengel, H; Heutink, P; Brunner, H; Scheffer, H; Steyaert, W; Sablauskas, K; de Voer, RM; Kamsteeg, E; van de Warrenburg, B; van Os, N; te Paske, I; Janssen, E; de Boer, E; Steehouwer, M; Yaldiz, B; Kleefstra, T; Veal, C; Gibson, S; Wadsley, M; Mehtarizadeh, M; Riaz, U; Warren, G; Dizjikan, FY; Shorter, T; Straub, V; Bettolo, CM; Specht, S; Clayton Smith, J; Banka, S; Alexander, E; Jackson, A; Faivre, L; Thauvin, C; Vitobello, A; Denommé Pichon, A; Duffourd, Y; Tisserant, E; Bruel, A; Peyron, C; Pélissier, A; Beltran, S; Gut, IG; Laurie, S; Piscia, D; Matalonga, L; Papakonstantinou, A; Bullich, G; Corvo, A; Garcia, C; Fernandez Callejo, M; Hernández, C; Picó, D; Paramonov, I; Lochmüller, H; Gumus, G; Bros Facer, V; Hanauer, M; Olry, A; Lagorce, D; Havrylenko, S; Izem, K; Rigour, F; Stevanin, G; Durr, A; Davoine, C; Guillot Noel, L; Heinzmann, A; Coarelli, G; Allamand, V; Nelson, I; Yaou, RB; Metay, C; Eymard, B; Cohen, E; Atalaia, A; Stojkovic, T; Macek, M; Turnovec, M; Thomasová, D; Kremliková, RP; Franková, V; Havlovicová, M; Kremlik, V; Parkinson, H; Keane, T; Senf, A; Robinson, P; Danis, D; Robert, G; Costa, A; Patch, C; Hanna, M; Houlden, H; Reilly, M; Vandrovcova, J; Muntoni, F; Zaharieva, I; Sarkozy, A; Timmerman, V; Baets, J; Van de Vondel, L; Beijer, D; de Jonghe, P; Nigro, V; Banfi, S; Torella, A; Musacchia, F; Piluso, G; Ferlini, A; Selvatici, R; Rossi, R; Neri, M; Aretz, S; Spier, I; Sommer, AK; Peters, S; Oliveira, C; Pelaez, JG; Matos, AR; José, CS; Ferreira, M; Gullo, I; Fernandes, S; Garrido, L; Ferreira, P; Carneiro, F; Swertz, MA; Johansson, L; van der Velde, JK; van der Vries, G; Neerincx, PB; Roelofs Prins, D; Köhler, S; Metcalfe, A; Verloes, A; Drunat, S; Rooryck, C; Trimouille, A; Castello, R; Morleo, M; Pinelli, M; Varavallo, A; De la Paz, MP; Sánchez, EB; Martín, EL; Delgado, BM; de la Rosa, FJAG; Ciolfi, A; Dallapiccola, B; Pizzi, S; Radio, FC; Tartaglia, M; Renieri, A; Benetti, E; Balicza, P; Molnar, MJ; Maver, A; Peterlin, B; Münchau, A; Lohmann, K; Herzog, R; Pauly, M; Macaya, A; Marcé Grau, A; Osorio, AN; de Benito, DN; Lochmüller, H; Thompson, R; Polavarapu, K; Beeson, D; Cossins, J; Cruz, PMR; Hackman, P; Johari, M; Savarese, M; Udd, B; Horvath, R; Capella, G; Valle, L; Holinski Feder, E; Laner, A; Steinke Lange, V; Schröck, E; Rump, A;
Publicação
EUROPEAN JOURNAL OF HUMAN GENETICS
Abstract
For the first time in Europe hundreds of rare disease (RD) experts team up to actively share and jointly analyse existing patient’s data. Solve-RD is a Horizon 2020-supported EU flagship project bringing together >300 clinicians, scientists, and patient representatives of 51 sites from 15 countries. Solve-RD is built upon a core group of four European Reference Networks (ERNs; ERN-ITHACA, ERN-RND, ERN-Euro NMD, ERN-GENTURIS) which annually see more than 270,000 RD patients with respective pathologies. The main ambition is to solve unsolved rare diseases for which a molecular cause is not yet known. This is achieved through an innovative clinical research environment that introduces novel ways to organise expertise and data. Two major approaches are being pursued (i) massive data re-analysis of >19,000 unsolved rare disease patients and (ii) novel combined -omics approaches. The minimum requirement to be eligible for the analysis activities is an inconclusive exome that can be shared with controlled access. The first preliminary data re-analysis has already diagnosed 255 cases form 8393 exomes/genome datasets. This unprecedented degree of collaboration focused on sharing of data and expertise shall identify many new disease genes and enable diagnosis of many so far undiagnosed patients from all over Europe.
2021
Autores
Pacheco, H; Macedo, N;
Publicação
International Journal of Robotic Computing
Abstract
2021
Autores
Fontes, X; Aparício, D; Silva, MI; Malveiro, B; Ascensão, JT; Bizarro, P;
Publicação
Proceedings of the 2nd Workshop on Search, Exploration, and Analysis in Heterogeneous Datastores (SEA-Data 2021) co-located with 47th International Conference on Very Large Data Bases (VLDB 2021), Copenhagen, Denmark, August 20, 2021.
Abstract
2021
Autores
Gomes, M; Vasconcelos Raposo, J; Teixeira, CM;
Publicação
Computers in Human Behavior Reports
Abstract
Phubbing, the act of ignoring someone to use the smartphone, has been a concern because of its consequences on social interaction. The present study aims to verify the phubbing practice's impact on satisfaction with a loving relationship and intimacy. This study was a quasi-experimental, cross-sectional, and quantitative study. The sample consisted of 384 individuals, 255 women, and 129 men. A sociodemographic questionnaire and instruments were applied Phubbing Scale (PS), Mobile Phone Usage Addiction Scale (MPUAS), Internet Addiction Scale (IAS), Social Media Addiction Scale (SMAS), Game Addiction Scale (GAS), SMS Addiction Scale (SAS), Relationship Assessment Scale (RAS) and Psychological Intimacy Scale (PIS). The statistical program used for data analysis was the Statistical Package for the Social Sciences (SPSS). The only dimensions of phubbing that influenced satisfaction with the love relationship were the communication disturbance, and in women, the difficulties of controlling the smartphone's use, and the need to share on social media. Results showed that: 1- satisfaction with the relationship is associated with the levels of intimacy. Another finding was that intimacy is related to a communication disturbance and phone obsession in women and difficulties in controlling smartphone use in men. © 2021
2021
Autores
Melegati, J; Guerra, E; Wang, X;
Publicação
Inf. Softw. Technol.
Abstract
2021
Autores
Pinto, JR; Cardoso, JS;
Publicação
Encyclopedia of Cryptography, Security and Privacy
Abstract
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