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Big Data and Internet of Things (IoT) Technologies' Influence on Higher Education
Vardan Mkrttchian, Alexey Finogeev, Vsevolod Chernyshenko, Leyla Gamidullaeva, Serge Chernyshenko, Danis Amirov, Irina Potapova
Sep 01, 2021
To respond to the needs of digital transformation, universities must continue to play their role as proving ground for educating the future generation and innovation. The article is devoted to overview, discussion, and...
Published by: IGI Global Scientific Publishing
GA4GH Phenopackets
Markus S Ladewig, Julius O B Jacobsen, Alex H Wagner, Daniel Danis, Baha El Kassaby, Michael Gargano, Tudor Groza, Michael Baudis, Robin Steinhaus, Dominik Seelow, Nikolaos E Bechrakis, Christopher J Mungall, Paul N Schofield, Olivier Elemento, Lindsay Smith, Julie A McMurry, Monica Munoz-Torres, Melissa A Haendel, Peter N Robinson
Apr 12, 2023
The Global Alliance for Genomics and Health (GA4GH) is developing a suite of coordinated standards for genomics for healthcare. The Phenopacket is a new GA4GH standard for sharing disease and phenotype information that...
GA4GH Phenopackets
Markus S Ladewig, Julius OB Jacobsen, Alex H Wagner, Daniel Danis, Baha El Kassaby, Michael Gargano, Tudor Groza, Michael Baudis, Robin Steinhaus, Dominik Seelow, Nikolaos E Bechrakis, Christopher J Mungall, Paul N Schofield, Olivier Elemento, Lindsay Smith, Julie A McMurry, Monica Munoz-Torres, Melissa A Haendel, Peter N Robinson
Sep 02, 2022
Exome reanalysis and proteomic profiling identified TRIP4 as a novel cause of cerebellar hypoplasia and spinal muscular atrophy (PCH1)
Ana Töpf, Angela Pyle, Helen Griffin, Leslie Matalonga, Katherine Schon, Albert Sickmann, Ulrike Schara–Schmidt, Andreas Hentschel, Patrick F. Chinnery, Heike Kölbel, Andreas Roos, Rita Horvath, Enzo Cohen, Isabel Cuesta, Daniel Danis, Anne-Sophie Denommé-Pichon, Yannis Duffourd, Christian Gilissen, Mridul Johari, Steven Laurie, Shuang Li, Isabelle Nelson, Ida Paramonov, Sophia Peters, Sivakumar Prasanth, Peter Robinson, Karolis Sablauskas, Marco Savarese, Wouter Steyaert, Joeri K. van der Velde, Antonio Vitobello, Jonathan Baets, Danique Beijer, Gisèle Bonne, Judith Cossins, Teresinha Evangelista, Alessandra Ferlini, Peter Hackman, Michael G. Hanna, Henry Houlden, Jarred Lau, Hanns Lochmüller, William L. Macken, Francesco Musacchia, Andres Nascimento, Daniel Natera-de Benito, Vincenzo Nigro, Giulio Piluso, Veronica Pini, Robert D. S. Pitceathly, Kiran Polavarapu, Pedro M. Rodriguez Cruz, Anna Sarkozy, Rita Selvatici, Rachel Thompson, Annalaura Torella, Bjarne Udd, Liedewei Van de Vondel, Jana Vandrovcova, Irina Zaharieva
Sep 15, 2021
Abstract: TRIP4 is one of the subunits of the transcriptional coregulator ASC-1, a ribonucleoprotein complex that participates in transcriptional coactivation and RNA processing events. Recessive variants in the TRIP4 gene have...
A MT-TL1 variant identified by whole exome sequencing in an individual with intellectual disability, epilepsy, and spastic tetraparesis
Elke de Boer, Charlotte W. Ockeloen, Leslie Matalonga, Rita Horvath, Richard J. Rodenburg, Marieke J. H. Coenen, Mirian Janssen, Dylan Henssen, Ida Paramonov, Aurélien Trimouille, Tjitske Kleefstra, Lisenka E. L. M. Vissers, Enzo Cohen, Isabel Cuesta, Daniel Danis, Anne-Sophie Denommé-Pichon, Yannis Duffourd, Christian Gilissen, Mridul Johari, Steven Laurie, Shuang Li, Isabelle Nelson, Sophia Peters, Sivakumar Prasanth, Peter Robinson, Karolis Sablauskas, Marco Savarese, Wouter Steyaert, Ana Töpf, Joeri K. van der Velde, Antonio Vitobello, Siddharth Banka, Elisa Benetti, Giorgio Casari, Andrea Ciolfi, Jill Clayton-Smith, Bruno Dallapiccola, Laurence Faivre, Tobias B. Haack, Anna Hammarsjö, Marketa Havlovicova, Alexander Hoischen, Anne Hugon, Adam Jackson, Anna Lindstrand, Estrella López-Martín, Milan, Jr. Macek, Vicenzo Nigro, Ann Nordgren, Maria Pettersson, Michele Pinelli, Simone Pizzi, Manuel Posada, Francesca Clementina Radio, Alessandra Renieri, Caroline Rooryck, Lukas Ryba, Martin Schwarz, Marco Tartaglia, Christel Thauvin, Annalaura Torella, Alain Verloes, Lisenka Vissers, Klea Vyshka, Birte Zurek
Sep 15, 2021