| Neuronopathic Gaucher's disease: induced pluripotent stem cells for disease modelling and testing chaperone activity of small compounds G Tiscornia, E Lorenzo Vivas, L Matalonga, I Berniakovich, ... Human molecular genetics 22 (4), 633-645, 2013 | 90 | 2013 |
| Mutations in the lipoyltransferase LIPT1 gene cause a fatal disease associated with a specific lipoylation defect of the 2-ketoacid dehydrogenase complexes F Tort, X Ferrer-Cortès, M Thió, A Navarro-Sastre, L Matalonga, ... Human molecular genetics 23 (7), 1907-1915, 2014 | 72 | 2014 |
| Solve-RD: systematic pan-European data sharing and collaborative analysis to solve rare diseases B Zurek, K Ellwanger, LELM Vissers, R Schüle, M Synofzik, A Töpf, ... European journal of human genetics 29 (9), 1325-1331, 2021 | 68 | 2021 |
| The GA4GH Phenopacket schema defines a computable representation of clinical data JOB Jacobsen, M Baudis, GS Baynam, JS Beckmann, S Beltran, ... Nature biotechnology 40 (6), 817-820, 2022 | 46 | 2022 |
| Solving patients with rare diseases through programmatic reanalysis of genome-phenome data L Matalonga, C Hernández-Ferrer, D Piscia, R Schüle, M Synofzik, A Töpf, ... European Journal of Human Genetics 29 (9), 1337-1347, 2021 | 42 | 2021 |
| Protein expression profiles in patients carrying NFU1 mutations. Contribution to the pathophysiology of the disease X Ferrer-Cortès, A Font, N Bujan, A Navarro-Sastre, L Matalonga, ... Journal of inherited metabolic disease 36, 841-847, 2013 | 41 | 2013 |
| Mutations in TRAPPC11 are associated with a congenital disorder of glycosylation L Matalonga, M Bravo, C Serra‐Peinado, E García‐Pelegrí, O Ugarteburu, ... Human mutation 38 (2), 148-151, 2017 | 37 | 2017 |
| Treatment effect of coenzyme Q10 and an antioxidant cocktail in fibroblasts of patients with Sanfilippo disease L Matalonga, A Arias, MJ Coll, J Garcia-Villoria, L Gort, A Ribes Journal of inherited metabolic disease 37, 439-446, 2014 | 35 | 2014 |
| Discovery of a novel noniminosugar acid α glucosidase chaperone series J Xiao, W Westbroek, O Motabar, WA Lea, X Hu, A Velayati, W Zheng, ... Journal of medicinal chemistry 55 (17), 7546-7559, 2012 | 31 | 2012 |
| Effect of readthrough treatment in fibroblasts of patients affected by lysosomal diseases caused by premature termination codons L Matalonga, Á Arias, F Tort, X Ferrer-Cortés, J Garcia-Villoria, MJ Coll, ... Neurotherapeutics 12 (4), 874-886, 2015 | 28 | 2015 |
| The RD‐Connect Genome‐Phenome Analysis Platform: Accelerating diagnosis, research, and gene discovery for rare diseases S Laurie, D Piscia, L Matalonga, A Corvó, M Fernández‐Callejo, ... Human mutation 43 (6), 717-733, 2022 | 27 | 2022 |
| Small molecules as therapeutic agents for inborn errors of metabolism L Matalonga, L Gort, A Ribes Journal of inherited metabolic disease 40, 177-193, 2017 | 25 | 2017 |
| Lysine restriction and pyridoxal phosphate administration in a NADK2 patient F Tort, O Ugarteburu, MA Torres, J García-Villoria, M Girós, A Ruiz, ... Pediatrics 138 (5), 2016 | 24 | 2016 |
| A guide to writing systematic reviews of rare disease treatments to generate FAIR-compliant datasets: building a Treatabolome A Atalaia, R Thompson, A Corvo, L Carmody, D Piscia, L Matalonga, ... Orphanet journal of rare diseases 15, 1-11, 2020 | 22 | 2020 |
| A leaky splicing mutation in NFU1 is associated with a particular biochemical phenotype. Consequences for the diagnosis X Ferrer-Cortès, J Narbona, N Bujan, L Matalonga, M Del Toro, JA Arranz, ... Mitochondrion 26, 72-80, 2016 | 22 | 2016 |
| Position paper on management of personal data in environment and health research in Europe G Eva, G Liese, B Stephanie, H Petr, M Leslie, V Roel, V Martine, B Sergi, ... Environment international 165, 107334, 2022 | 21 | 2022 |
| ELIXIR‐EXCELERATE: establishing Europe's data infrastructure for the life science research of the future J Harrow, J Hancock, ELIXIR‐EXCELERATE Community, N Blomberg, ... The EMBO journal 40 (6), e107409, 2021 | 21 | 2021 |
| Mutations in TIMM50 cause severe mitochondrial dysfunction by targeting key aspects of mitochondrial physiology F Tort, O Ugarteburu, L Texidó, S Gea‐Sorlí, J García‐Villoria, ... Human mutation 40 (10), 1700-1712, 2019 | 21 | 2019 |
| Severe infantile parkinsonism because of a de novo mutation on DLP1 mitochondrial-peroxisomal protein H Diez, E Cortes-Saladelafont, A Ormazabal, AF Marmiese, J Armstrong, ... Movement disorders: official journal of the Movement Disorder Society 32 (7 …, 2017 | 21 | 2017 |
| Cardiac and placental mitochondrial characterization in a rabbit model of intrauterine growth restriction M Guitart-Mampel, A Gonzalez-Tendero, S Niñerola, C Morén, ... Biochimica et Biophysica Acta (BBA)-General Subjects 1862 (5), 1157-1167, 2018 | 18 | 2018 |
