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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
A mosaic PIK3CA variant in a young adult with diffuse gastric cancer
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
Boosting care and knowledge about hereditary cancer
Janet R Vos, Lisette Giepmans, Claas Röhl, Nicoline Geverink, Nicoline Hoogerbrugge, ERN GENTURIS
Feb 07, 2020
Approximately 27-36 million patients in Europe have one of the ~ 5.000-8.000 known rare diseases. These patients often do not receive the care they need or they have a substantial delay from diagnosis to treatment. In March...
Cross border health care European Reference Network Genetic Hereditary cancer Rare Diseases Syndrome Clinical Competence Databases Factual Europe Genetic Predisposition to Disease Genetic Testing Humans Information Dissemination Information Services International Cooperation Medical Oncology Neoplastic Syndromes Hereditary Quality Improvement Rare Diseases Registries Remote Consultation Time-to-Treatment
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 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...
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
The Max-Min Group Contest
We investigate a group all-pay auction in which each group's effort is represented by the minimum among the effort levels exerted by the group members and the prize is a group-specific public good. We fully characterize the...
The Max-Min Group Contest
We investigate a group all-pay auction in which each group's effort is represented by the minimum among the effort levels exerted by the group members and the prize is a group-specific public good. We fully characterize the...
Cross-phenotype analysis of Immunochip data identifies KDM4C as a relevant locus for the development of systemic vasculitis.
Lourdes Ortiz-Fernández, Francisco David Carmona, Raquel López-Mejías, Maria Francisca González-Escribano, Paul A Lyons, Ann W Morgan, Amr H Sawalha, Peter A Merkel, Kenneth GC Smith, Miguel A González-Gay, Javier Martín, UK GCA Consortium, Turkish Takayasu Study Group, Vasculitis Clinical Research Consortium, IgAV Study Group, AAV Study group Spanish GCA Study Group
Apr 18, 2018
OBJETIVE: Systemic vasculitides represent a heterogeneous group of rare complex diseases of the blood vessels with a poorly understood aetiology. To investigate the shared genetic component underlying their predisposition, we...
Autoantibodies outcomes research systemic sclerosis Anti-Neutrophil Cytoplasmic Antibody-Associated Vasculitis Case-Control Studies Epigenesis Genetic Female Genetic Loci Genetic Predisposition to Disease Giant Cell Arteritis HLA-DQ Antigens HLA-DQ beta-Chains Humans Jumonji Domain-Containing Histone Demethylases Linkage Disequilibrium Male Phenotype Polymorphism Single Nucleotide Protein Array Analysis Systemic Vasculitis Takayasu arteritis
Weight Change and the Onset of Cardiovascular Diseases
Michail Katsoulis, Bianca D Stavola, Karla Diaz-Ordaz, Manuel Gomes, Alvina Lai, Pagona Lagiou, Goya Wannamethee, Konstantinos Tsilidis, R Thomas Lumbers, Spiros Denaxas, Amitava Banerjee, Constantinos A Parisinos, Rachel Batterham, Riyaz Patel, Claudia Langenberg, Harry Hemingway
Aug 16, 2021
BACKGROUND: Cross-sectional measures of body mass index (BMI) are associated with cardiovascular disease (CVD) incidence, but less is known about whether weight change affects the risk of CVD. METHODS: We estimated the effect of...
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...
Surveillance recommendations for DICER1 pathogenic variant carriers
Jette J Bakhuizen, Helen Hanson, Karin van der Tuin, Fiona Lalloo, Marc Tischkowitz, Karin Wadt, Marjolijn CJ Jongmans, SIOPE Host Genome Working Group, CanGene-CanVar Clinical Guideline Working Group, Expert Network Members
Oct 01, 2021
DICER1 syndrome is a rare genetic disorder that predisposes to a wide spectrum of tumors. Developing surveillance protocols for this syndrome is challenging because uncertainty exists about the clinical efficacy of surveillance...
Cancer Surveillance Guideline for individuals with PTEN hamartoma tumour syndrome.
Marc Tischkowitz, Chrystelle Colas, Sjaak Pouwels, Nicoline Hoogerbrugge, PHTS Guideline Development Group, European Reference Network GENTURIS
Apr 29, 2020
PTEN hamartoma tumour syndrome is a diverse multi-system disorder predisposing to the development of hamartomatous growths, increasing risk of breast, thyroid, renal cancer, and possibly increasing risk of endometrial cancer...
The social network structure of a dynamic group of dairy cows
Natasha K. Boyland, David T. Mlynski, Richard James, Lauren J. N. Brent, Darren P. Croft
Jan 01, 2016
Social relationships have been shown to significantly impact individual and group success in wild animal populations, but are largely ignored in farm animal management. There are substantial gaps in our knowledge of how farm...
A Privacy Protection Scheme for Cross-Chain Transactions Based on Group Signature and Relay Chain
Recently, with the rapid development of blockchain technology, the information interaction and value transfer problems between different blockchains have become the focus of research. The cross-chain technology is to solve the...
Published by: IGI Global Scientific Publishing
The Neurology and Neurosurgery Interest Group (NANSIG)-ten years of cultivating interest in clinical neurosciences.
Jay J Park, Setthasorn Zhi Yang Ooi, Conor S Gillespie, Soham Bandyopadhyay, Yasir A Chowdhury, Georgios Solomou, Melissa Gough, Ulrick Sidney Kanmounye, Alvaro Yanez Touzet, Michael TC Poon, Andreas K Demetriades, Michael D Jenkinson, Alistair Jenkins, Neurology and Neurosurgery Interest Group (NANSIG)
Feb 18, 2022
Collaboration and successful teamworking are important components of clinical practise, and these skills should be cultivated early in medical school. The breadth of current medical school curricula means that students often...
IL-33 deficiency causes persistent inflammation and severe neurodegeneration in retinal detachment.
Josy Augustine, Sofia Pavlou, Imran Ali, Kevin Harkin, Ema Ozaki, Matthew Campbell, Alan W Stitt, Heping Xu, Mei Chen
Jan 20, 2020
BACKGROUND: Interleukin-33 (IL-33) belongs to the IL-1 cytokine family and resides in the nuclei of various cell types. In the neural retina, IL-33 is predominately expressed in Müller cells although its role in health and...
The social network structure of a dynamic group of dairy cows
Natasha K. Boyland, David T. Mlynski, Richard James, Lauren J. N. Brent, Darren P. Croft
Jan 01, 2016
Social relationships have been shown to significantly impact individual and group success in wild animal populations, but are largely ignored in farm animal management. There are substantial gaps in our knowledge of how farm...
Young children do not require perceptual-motor feedback to solve Aesop's Fable tasks
Aesop's Fable tasks-in which subjects drop objects into a water-filled tube to raise the water level and obtain out-of-reach floating rewards -have been used to test for causal understanding of water displacement in both young...
Consensus for genes to be included on cancer panel tests offered by UK genetics services
Amy Taylor, Angela F Brady, Ian M Frayling, Helen Hanson, Marc Tischkowitz, Clare Turnbull, Lucy Side, UK Cancer Genetics Group (UK-CGG)
May 18, 2018
Genetic testing for hereditary cancer predisposition has evolved rapidly in recent years with the discovery of new genes, but there is much debate over the clinical utility of testing genes for which there are currently limited...
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