| Multiple cellulose synthase catalytic subunits are required for cellulose synthesis in Arabidopsis NG Taylor, S Laurie, SR Turner The plant cell 12 (12), 2529-2539, 2000 | 564 | 2000 |
| TGF-β1 genotype and accelerated decline in lung function of patients with cystic fibrosis PD Arkwright, S Laurie, M Super, V Pravica, MJ Schwarz, AK Webb, ... Thorax 55 (6), 459-462, 2000 | 317 | 2000 |
| Accelerated evolution after gene duplication: a time-dependent process affecting just one copy C Pegueroles, S Laurie, MM Albà Molecular biology and evolution 30 (8), 1830-1842, 2013 | 138 | 2013 |
| 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 | 93 | 2021 |
| From wet‐lab to variations: concordance and speed of bioinformatics pipelines for whole genome and whole exome sequencing S Laurie, M Fernandez‐Callejo, S Marco‐Sola, JR Trotta, J Camps, ... Human mutation 37 (12), 1263-1271, 2016 | 73 | 2016 |
| 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 | 64 | 2021 |
| Improving genome-wide scans of positive selection by using protein isoforms of similar length JL Villanueva-Canas, S Laurie, MM Alba Genome biology and evolution 5 (2), 457-467, 2013 | 60 | 2013 |
| 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 | 51 | 2022 |
| Lineage-specific variation in intensity of natural selection in mammals M Toll-Riera, S Laurie, MM Alba Molecular biology and evolution 28 (1), 383-398, 2011 | 44 | 2011 |
| Recessive variants of MuSK are associated with late onset CMS and predominant limb girdle weakness D Owen, A Töpf, V Preethish‐Kumar, PJ Lorenzoni, B Vroling, RH Scola, ... American Journal of Medical Genetics Part A 176 (7), 1594-1601, 2018 | 31 | 2018 |
| New spinocerebellar ataxia subtype caused by SAMD9L mutation triggering mitochondrial dysregulation (SCA49) M Corral-Juan, P Casquero, N Giraldo-Restrepo, S Laurie, ... Brain Communications 4 (2), fcac030, 2022 | 30 | 2022 |
| 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 | 30 | 2020 |
| Congenital myasthenic syndrome with mild intellectual disability caused by a recurrent SLC25A1 variant S Balaraju, A Töpf, G McMacken, VP Kumar, A Pechmann, H Roper, ... European Journal of Human Genetics 28 (3), 373-377, 2020 | 29 | 2020 |
| PRKG1 and genetic diagnosis of early‐onset thoracic aortic disease M Gago‐Díaz, A Blanco‐Verea, G Teixidó, F Huguet, M Gut, S Laurie, ... European Journal of Clinical Investigation 46 (9), 787-794, 2016 | 29 | 2016 |
| High diagnostic rate of trio exome sequencing in consanguineous families with neurogenetic diseases S Hiz Kurul, Y Oktay, A Töpf, NZ Szabó, S Güngör, A Yaramis, ... Brain 145 (4), 1507-1518, 2022 | 27 | 2022 |
| Integrated analysis of germline and tumor DNA identifies new candidate genes involved in familial colorectal cancer M Diaz-Gay, S Franch-Exposito, C Arnau-Collell, S Park, F Supek, ... Cancers 11 (3), 362, 2019 | 22 | 2019 |
| New genes involved in Angelman syndrome-like: expanding the genetic spectrum C Aguilera, E Gabau, A Ramirez-Mallafré, C Brun-Gasca, ... PloS one 16 (10), e0258766, 2021 | 21 | 2021 |
| Confirmation of TACO1 as a Leigh syndrome disease gene in two additional families Y Oktay, S Güngör, L Zeltner, S Wiethoff, L Schöls, E Sonmezler, E Yilmaz, ... Journal of Neuromuscular Diseases 7 (3), 301-308, 2020 | 21 | 2020 |
| Sequence shortening in the rodent ancestor S Laurie, M Toll-Riera, N Radó-Trilla, MM Albà Genome research 22 (3), 478-485, 2012 | 21 | 2012 |
| Systematic collaborative reanalysis of genomic data improves diagnostic yield in neurologic rare diseases G Bullich, L Matalonga, M Pujadas, A Papakonstantinou, D Piscia, ... The Journal of molecular diagnostics 24 (5), 529-542, 2022 | 18 | 2022 |
Sergi BeltranBioinformatics Analysis Unit Head, Centro Nacional de Análisis GenómicoПідтверджена електронна адреса в cnag.eu
