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Results: 2166
Solve-RD
Birte Zurek, Kornelia Ellwanger, Lisenka ELM Vissers, Rebecca Schüle, Matthis Synofzik, Ana Töpf, Richarda M de Voer, Steven Laurie, Leslie Matalonga, Christian Gilissen, Stephan Ossowski, Peter AC 't Hoen, Antonio Vitobello, Julia M Schulze-Hentrich, Olaf Riess, Han G Brunner, Anthony J Brookes, Ana Rath, Gisèle Bonne, Gulcin Gumus, Alain Verloes, Nicoline Hoogerbrugge, Teresinha Evangelista, Tina Harmuth, Morris Swertz, Dylan Spalding, Alexander Hoischen, Sergi Beltran, Holm Graessner, Solve-RD Consortium
Sep 15, 2021
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...
Solving unsolved rare neurological diseases-a Solve-RD viewpoint.
Rebecca Schüle, Dagmar Timmann, Corrie E Erasmus, Jennifer Reichbauer, Melanie Wayand, Solve-RD-DITF-RND, Bart van de Warrenburg, Ludger Schöls, Carlo Wilke, Andrea Bevot, Stephan Zuchner, Sergi Beltran, Steven Laurie, Leslie Matalonga, Holm Graessner, Matthis Synofzik, Solve-RD Consortium
Sep 15, 2021
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, Solve-RD SNV-indel working group, Solve-RD DITF-euroNMD, Albert Sickmann, Ulrike Schara-Schmidt, Andreas Hentschel, Patrick F Chinnery, Heike Kölbel, Andreas Roos, Rita Horvath
Apr 08, 2021
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 been...
Solving patients with rare diseases through programmatic reanalysis of genome-phenome data.
Leslie Matalonga, Carles Hernández-Ferrer, Davide Piscia, Solve-RD SNV-indel working group, Rebecca Schüle, Matthis Synofzik, Ana Töpf, Lisenka ELM Vissers, Richarda de Voer, Solve-RD DITF-GENTURIS, Solve-RD DITF-ITHACA, Solve-RD DITF-euroNMD, Solve-RD DITF-RND, Raul Tonda, Steven Laurie, Marcos Fernandez-Callejo, Daniel Picó, Carles Garcia-Linares, Anastasios Papakonstantinou, Alberto Corvó, Ricky Joshi, Hector Diez, Ivo Gut, Alexander Hoischen, Holm Graessner, Sergi Beltran, Solve-RD Consortia
Sep 15, 2021
The International Human Epigenome Consortium
The International Human Epigenome Consortium (IHEC) coordinates the generation of a catalog of high-resolution reference epigenomes of major primary human cell types. The studies now presented (see the Cell Press IHEC web portal...
Gene Ontology Consortium
Gene Ontology Consortium
May 06, 2020
The Gene Ontology (GO; http://www.geneontology.org) is a community-based bioinformatics resource that supplies information about gene product function using ontologies to represent biological knowledge. Here we describe...
ImmUniverse Consortium
Stefania Vetrano, Gerben Bouma, Robert J Benschop, Thomas Birngruber, Antonio Costanzo, GRAM D'Haens, Loredana Frasca, Rainer Hillenbrand, Lars Iversen, Claus Johansen, Arthur Kaser, Hans JPM Koenen, Christa Noehammer, Laurent Peyrin-Biroulet, Jeroen Raes, Leonardo Ricotti, Philip Rosenstiel, Venkata P Satagopam, Stefan Schreiber, Severine Vermeire, Andreas Wollenberg, Stephan Weidinger, Daniel Ziemek, Silvio Danese, ImmUniverse Consortium
Jan 04, 2023
Immune mediated inflammatory diseases (IMIDs) are a heterogeneous group of debilitating, multifactorial and unrelated conditions featured by a dysregulated immune response leading to destructive chronic inflammation. The immune...
Balancing solar PV deployment and RD&D
We present a new framework for studying the socially optimal level of generating capacity and public RD&D investments for the electric power sector under decision-dependent technical change uncertainty. We construct a bottom-up...
The SPECTRUM Consortium
M Horton, PR Perman-Howe, C Angus, J Bishop, I Bogdanovica, A Brennan, J Britton, LS Brose, J Brown, J Collin, M Dockrell, N Fitzgerald, S Friel, D Gillespie, AB Gilmore, SE Hill, C Knai, T Langley, S Martin, A McNeill, G Moore, MR Munafò, RL Murray, M Opazo Breton, J Pearce, M Petticrew, G Reid, D Robson, H Rutter, L Shahab, N Shortt, K Smith, K Syrett, L Bauld
Dec 31, 2021
The main causes of non-communicable diseases (NCDs), health inequalities and health inequity include consumption of unhealthy commodities such as tobacco, alcohol and/or foods high in fat, salt and/or sugar. These exposures...
The SPECTRUM Consortium
M Horton, PR Perman-Howe, C Angus, J Bishop, I Bogdanovica, A Brennan, J Britton, LS Brose, J Brown, J Collin, M Dockrell, N Fitzgerald, S Friel, D Gillespie, AB Gilmore, SE Hill, C Knai, T Langley, S Martin, A McNeill, G Moore, MR Munafò, RL Murray, M Opazo Breton, J Pearce, M Petticrew, G Reid, D Robson, H Rutter, L Shahab, N Shortt, K Smith, K Syrett, L Bauld
Dec 31, 2021
The main causes of non-communicable diseases (NCDs), health inequalities and health inequity include consumption of unhealthy commodities such as tobacco, alcohol and/or foods high in fat, salt and/or sugar. These exposures...
The RD-Connect Genome-Phenome Analysis Platform
Steven Laurie, Davide Piscia, Leslie Matalonga, Alberto Corvó, Marcos Fernández-Callejo, Carles Garcia-Linares, Carles Hernandez-Ferrer, Cristina Luengo, Inés Martínez, Anastasios Papakonstantinou, Daniel Picó-Amador, Joan Protasio, Rachel Thompson, Raul Tonda, Mònica Bayés, Gemma Bullich, Jordi Camps-Puchadas, Ida Paramonov, Jean-Rémi Trotta, Angel Alonso, Marcella Attimonelli, Christophe Béroud, Virginie Bros-Facer, Orion J Buske, Andrés Cañada-Pallarés, José M Fernández, Mats G Hansson, Rita Horvath, Julius OB Jacobsen, Rajaram Kaliyaperumal, Séverine Lair-Préterre, Luana Licata, Pedro Lopes, Estrella López-Martín, Deborah Mascalzoni, Lucia Monaco, Luis A Pérez-Jurado, Manuel Posada de la Paz, Jordi Rambla, Ana Rath, Olaf Riess, Peter N Robinson, David Salgado, Damian Smedley, Dylan Spalding, Peter AC 't Hoen, Ana Töpf, Irina Zaharieva, Holm Graessner, Ivo G Gut, Hanns Lochmüller, Sergi Beltran
May 20, 2022
Rare disease patients are more likely to receive a rapid molecular diagnosis nowadays thanks to the wide adoption of next-generation sequencing. However, many cases remain undiagnosed even after exome or genome analysis, because...
Stability Analysis of EPC Consortium Cooperation Based on Evolutionary Game
Consortium contracting is a contracting model that China encourages and advocates. Due to the interest drive, members within the consortium are very prone to negative cooperation and midway withdrawal, which hinders the healthy...
Published by: IGI Global Scientific Publishing
The Typhoid Vaccine Acceleration Consortium (TyVAC): Vaccine effectiveness study designs
Typhoid fever is estimated to cause between 11.9-26.9 million infections globally each year with 129,000-216,510 deaths. Access to improved water sources have reduced disease incidence in parts of the world but the use of...
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, Solve-RD SNV-indel working group, Richard J Rodenburg, Marieke JH Coenen, Mirian Janssen, Dylan Henssen, Christian Gilissen, Wouter Steyaert, Ida Paramonov, Solve-RD-DITF-ITHACA, Aurélien Trimouille, Tjitske Kleefstra, Alain Verloes, Lisenka ELM Vissers
Sep 24, 2021
Remote visualization of large-scale genomic alignments for collaborative clinical research and diagnosis of rare diseases.
Alberto Corvò, Leslie Matalonga, Dylan Spalding, Alexander Senf, Steven Laurie, Daniel Picó-Amador, Marcos Fernandez-Callejo, Ida Paramonov, Anna Foix Romero, Emilio Garcia-Rios, Jorge Izquierdo Ciges, Anand Mohan, Coline Thomas, Andres Felipe Silva Valencia, Csaba Halmagyi, Mallory Ann Freeberg, Ana Töpf, Rita Horvath, Gary Saunders, Ivo Gut, Thomas Keane, Davide Piscia, Sergi Beltran
Mar 26, 2023
The Solve-RD project objectives include solving undiagnosed rare diseases (RD) through collaborative research on shared genome-phenome datasets. The RD-Connect Genome-Phenome Analysis Platform (GPAP), for data collation and...
genome analysis Diagnosis Data sharing standards Data visualization Rare Diseases Exome Analysis Federated Infrastructures Remote Data Access
Published by: Cell genomics
A mosaic PIK3CA variant in a young adult with diffuse gastric cancer
Proposing a Library Consortium Model for National Development in Zimbabwe
Collence Chisita
Jul 01, 2021
Globally library cooperation and collaboration is transforming the scholarship landscape as academic libraries battle to survive amidst escalating costs of subscriptions. Zimbabwe is no exception to this phenomenon as evidenced...
Published by: IGI Global Scientific Publishing
Meningococcal carriage in the African meningitis belt.
MenAfriCar consortium
Jan 23, 2018
A meningococcal serogroup A polysaccharide/tetanus toxoid conjugate vaccine (PsA-TT) (MenAfriVac(™) ) is being deployed in countries of the African meningitis belt. Experience with other polysaccharide/protein conjugate vaccines...
Africa MenAfriCar Neisseria meningitidis meningococcal carriage Meningococcal Vaccines meningococcus Adolescent Adult Africa Carrier State Child Child Preschool Cross-Sectional Studies Enzyme-Linked Immunosorbent Assay Epidemics Humans Immunization Programs Infant International Cooperation Meningitis Meningococcal Meningococcal Vaccines Neisseria meningitidis Serogroup A Pharynx Pilot Projects Polymerase Chain Reaction Program Evaluation Specimen Handling vaccines Conjugate Young Adult
ICC-dementia (International Centenarian Consortium - dementia)
Henry Brodaty, Claudia Woolf, Stacy Andersen, Nir Barzilai, Carol Brayne, Karen Siu-Lan Cheung, Maria M Corrada, John D Crawford, Catriona Daly, Yasuyuki Gondo, Bo Hagberg, Nobuyoshi Hirose, Henne Holstege, Claudia Kawas, Jeffrey Kaye, Nicole A Kochan, Bobo Hi-Po Lau, Ugo Lucca, Gabriella Marcon, Peter Martin, Leonard W Poon, Robyn Richmond, Jean-Marie Robine, Ingmar Skoog, Melissa J Slavin, Jan Szewieczek, Mauro Tettamanti, José Viña, Thomas Perls, Perminder S Sachdev
Sep 29, 2016
BACKGROUND: Considerable variability exists in international prevalence and incidence estimates of dementia. The accuracy of estimates of dementia in the oldest-old and the controversial question of whether dementia incidence...
A data-driven model of brain volume changes in progressive supranuclear palsy.
WJ Scotton, M Bocchetta, E Todd, DM Cash, N Oxtoby, L VandeVrede, H Heuer, 4RTNI Consortium PROSPECT Consortium, DC Alexander, JB Rowe, HR Morris, A Boxer, JD Rohrer, PA Wijeratne
Jun 29, 2022
The most common clinical phenotype of progressive supranuclear palsy is Richardson syndrome, characterized by levodopa unresponsive symmetric parkinsonism, with a vertical supranuclear gaze palsy, early falls and cognitive...
Surveillance and Epidemiology of Drug Resistant Infections Consortium (SEDRIC)
Keiji Fukuda, Direk Limmathurotsakul, Iruka N Okeke, Nandini Shetty, Rogier van Doorn, Nicholas A Feasey, Francesca Chiara, Ghada Zoubiane, Tim Jinks, Julian Parkhill, Jean Patel, Stuart WJ Reid, Alison H Holmes, Sharon J Peacock, Surveillance and Epidemiology of Drug Resistant Infections Consortium (SEDRIC)
Nov 05, 2018
In recognition of the central importance of surveillance and epidemiology in the control of antimicrobial resistance and the need to strengthen surveillance at all levels, Wellcome has brought together a new international expert...
How multisensory neurons solve causal inference.
Sitting in a static railway carriage can produce illusory self-motion if the train on an adjoining track moves off. While our visual system registers motion, vestibular signals indicate that we are stationary. The brain is faced...
Collaborating to Explore Controlled Digital Lending as a Library Consortium
In 2020–2021, the Boston Library Consortium (BLC) explored the potential for controlled digital lending (CDL) across the library consortium. Over the course of a year, the BLC's CDL Working Group engaged with internal...
Library Science Library and Information Science Library Administration Education Media and Communications
Published by: IGI Global Scientific Publishing
Improving Shipping Efficiency Industry-Led Consortium Blockchain Smart Contact
COVID-19 has recently affected global trade flows, and the primary reason is that shipping failed to adapt rapidly to meet the need for on-time delivery. Given blockchain's “revolutionary” potential, this paper aims to...
Published by: IGI Global Scientific Publishing
Height, selected genetic markers and prostate cancer risk
Artitaya Lophatananon, Sarah Stewart-Brown, Zsofia Kote-Jarai, Ali Amin Al Olama, Sara Benlloch Garcia, David E Neal, Freddie C Hamdy, Jenny L Donovan, Graham G Giles, Liesel M Fitzgerald, Melissa C Southey, Paul Pharoah, Nora Pashayan, Henrik Gronberg, Fredrik Wiklund, Markus Aly, Janet L Stanford, Hermann Brenner, Aida K Dieffenbach, Volker Arndt, Jong Y Park, Hui-Yi Lin, Thomas Sellers, Chavdar Slavov, Radka Kaneva, Vanio Mitev, Jyotsna Batra, Amanda Spurdle, Judith A Clements, APCB BioResource, PRACTICAL Consortium, Douglas Easton, Rosalind A Eeles, Kenneth Muir
Dec 08, 2017
BACKGROUND: Evidence on height and prostate cancer risk is mixed, however, recent studies with large data sets support a possible role for its association with the risk of aggressive prostate cancer. METHODS: We analysed data...
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