Cristina Luengo
A5079814494- Genomics and Rare Diseases
- Erythrocyte Function and Pathophysiology
- Catalysts for Methane Reforming
- Phase Change Materials Research
- Iron and Steelmaking Processes
- Stress and Burnout Research
- Genetic Syndromes and Imprinting
- Aging, Health, and Disability
- Advanced Battery Materials and Technologies
- Genomic variations and chromosomal abnormalities
- Hemoglobin structure and function
- Metal Extraction and Bioleaching
- Hemoglobinopathies and Related Disorders
- Recycling and utilization of industrial and municipal waste in materials production
- Adsorption and Cooling Systems
- Social Sciences and Policies
- Thermal Expansion and Ionic Conductivity
- Advancements in Battery Materials
- Bioinformatics and Genomic Networks
- Biomedical Text Mining and Ontologies
CIC energiGUNE
2023
Centre for Genomic Regulation
2022
Centro Nacional de Análisis Genómico
2022
Rare disease patients are more likely to receive a rapid molecular diagnosis nowadays thanks the wide adoption of next-generation sequencing. However, many cases remain undiagnosed even after exome or genome analysis, because methods used missed cause in known gene, novel causative gene could not be identified and/or confirmed. To address these challenges, RD-Connect Genome-Phenome Analysis Platform (GPAP) facilitates collation, discovery, sharing, and analysis standardized genome-phenome...
Many patients experiencing a rare disease remain undiagnosed even after genomic testing. Reanalysis of existing data has shown to increase diagnostic yield, although there are few systematic and comprehensive reanalysis efforts that enable collaborative interpretation future reinterpretation. The Undiagnosed Rare Disease Program Catalonia project collated previously inconclusive good quality (panels, exomes, genomes) standardized phenotypic profiles from 323 families (543 individuals) with...
Solid-solid phase-change materials have great potential for developing compact and low-cost thermal storage systems. The solid-state nature of these enables the design systems analogous to those based on natural rocks but with an extraordinarily higher energy density. In this scenario, evaluation improvement mechanical thermophysical properties solid-solid PCMs are key exploiting their full potential. study, LiNaSO4-based composites, comprising porous MgO expanded graphite (EG) as dispersed...