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Results: 933
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
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
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...
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
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
A mosaic PIK3CA variant in a young adult with diffuse gastric cancer
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...
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...
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...
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...
Identification of a variant in NDP associated with X-linked retinal dysplasia in the English cocker spaniel dog.
Hannah Joyce, Louise M Burmeister, Hattie Wright, Lorraine Fleming, James AC Oliver, Cathryn Mellersh
Aug 23, 2021
PURPOSE: Three related male English Cocker Spaniels (ECS) were reported to be congenitally blind. Examination of one of these revealed complete retinal detachment. A presumptive diagnosis of retinal dysplasia (RD) was provided...
Can the two-time interpretation of quantum mechanics solve the measurement problem?
K Robertson
Mar 08, 2017
Over many years, Aharonov and co-authors have proposed a new interpretation of quantum mechanics: the two-time interpretation. This interpretation assigns two wavefunctions to a system, one of which propagates forwards in time...
Compliance in autism
Previous research indicates that autistic individuals are more likely to be bullied, and that they experience heightened anxiety and diminished self-esteem. These factors are known to predict heightened compliance, which is the...
Compliance in autism
Previous research indicates that autistic individuals are more likely to be bullied, and that they experience heightened anxiety and diminished self-esteem. These factors are known to predict heightened compliance, which is the...
“Solve the Big Problems”
Blended learning remains at the top of higher education/technology issues lists despite having been in practice on college and university campuses for 20 years. However, a review of blended learning research literature suggests...
Published by: IGI Global Scientific Publishing
Radiofrequency denervation for chronic back pain
Objectives: To assess the effectiveness of radiofrequency denervation (RD) of lumbosacral anatomical targets for the management of chronic back pain. Design: Systematic review and meta-analysis of randomised controlled trials...
Six principles for energy innovation
Gabriel Chan, Anna P Goldstein, Amitai Bin-Nun, Laura Diaz Anadon, Venkatesh Narayanamurti
Nov 01, 2018
Last month, the European Union marked the tenth year of its Strategic Energy Technology Plan. It is one of many policy initiatives worldwide to accelerate innovation in energy technologies to reduce greenhouse-gas emissions. As...
Understanding Oestrogen Receptor Function in Breast Cancer and its Interaction with the Progesterone Receptor. New Preclinical Findings and their Clinical Implications.
This is the author accepted manuscript. The final version is available from Elsevier via http://dx.doi.org/10.1016/j.clon.2015.10.005
High-dimensional regression with potential prior information on variable importance
There are a variety of settings where vague prior information may be
available on the importance of predictors in high-dimensional regression
settings. Examples include ordering on the variables offered by their...
Sub-minute kinetics of human red cell fumarase
Dmitry Shishmarev, Alan J Wright, Tiago B Rodrigues, Giuseppe Pileio, Gabriele Stevanato, Kevin M Brindle, Philip W Kuchel
Sep 04, 2018
Fumarate is an important probe of metabolism in hyperpolarized magnetic resonance imaging and spectroscopy. It is used to detect the release of fumarase in cancer tissues, which is associated with necrosis and drug treatment....
Comparative efficacy and safety of alternative glucocorticoids regimens in patients with ANCA-associated vasculitis
Yingqi Xiao, Gordon Guyatt, Linan Zeng, David Rw Jayne, Peter A Merkel, Reed Ac Siemieniuk, Jared E Dookie, Tayler A Buchan, Muhammad Muneeb Ahmed, Rachel J Couban, Alfred Mahr, Michael Walsh
Mar 02, 2022
OBJECTIVE: To compare the efficacy and safety of alternative glucocorticoids (GCs) regimens as induction therapy for patients with antineutrophil cytoplasmic antibodies (ANCA)-associated vasculitis. DESIGN: Systematic review of...
Modelling Interactions in High-dimensional Data with Backtracking
RD Shah
Apr 19, 2016
We study the problem of high-dimensional regression when there may be
interacting variables. Approaches using sparsity-inducing penalty functions
such as the Lasso can be useful for producing interpretable models. However,
when...
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