| Ensembl 2012 P Flicek, MR Amode, D Barrell, K Beal, S Brent, D Carvalho-Silva, ... Nucleic acids research 40 (D1), D84-D90, 2012 | 1169 | 2012 |
| Ensembl 2011 P Flicek, MR Amode, D Barrell, K Beal, S Brent, Y Chen, P Clapham, ... Nucleic acids research 39 (suppl_1), D800-D806, 2010 | 887 | 2010 |
| Genome, transcriptome and proteome: the rise of omics data and their integration in biomedical sciences C Manzoni, DA Kia, J Vandrovcova, J Hardy, NW Wood, PA Lewis, ... Briefings in bioinformatics 19 (2), 286-302, 2018 | 713 | 2018 |
| Lewy-and Alzheimer-type pathologies in Parkinson's disease dementia: which is more important? Y Compta, L Parkkinen, SS O'Sullivan, J Vandrovcova, JL Holton, ... Brain 134 (5), 1493-1505, 2011 | 622 | 2011 |
| Identification of common variants influencing risk of the tauopathy progressive supranuclear palsy GU Höglinger, NM Melhem, DW Dickson, PMA Sleiman, LS Wang, L Klei, ... Nature genetics 43 (7), 699-705, 2011 | 616 | 2011 |
| The heritability and genetics of frontotemporal lobar degeneration JD Rohrer, R Guerreiro, J Vandrovcova, J Uphill, D Reiman, J Beck, ... Neurology 73 (18), 1451-1456, 2009 | 576 | 2009 |
| Biallelic expansion of an intronic repeat in RFC1 is a common cause of late-onset ataxia A Cortese, R Simone, R Sullivan, J Vandrovcova, H Tariq, WY Yau, ... Nature genetics 51 (4), 649-658, 2019 | 413 | 2019 |
| 100,000 genomes pilot on rare-disease diagnosis in health care—preliminary report 100,000 Genomes Project Pilot Investigators New England Journal of Medicine 385 (20), 1868-1880, 2021 | 365 | 2021 |
| Lynch syndrome (hereditary nonpolyposis colorectal cancer) diagnostics K Lagerstedt Robinson, T Liu, J Vandrovcova, B Halvarsson, ... Journal of the National Cancer Institute 99 (4), 291-299, 2007 | 298 | 2007 |
| MAPT expression and splicing is differentially regulated by brain region: relation to genotype and implication for tauopathies D Trabzuni, S Wray, J Vandrovcova, A Ramasamy, R Walker, C Smith, ... Human molecular genetics 21 (18), 4094-4103, 2012 | 256 | 2012 |
| An additional k-means clustering step improves the biological features of WGCNA gene co-expression networks JA Botía, J Vandrovcova, P Forabosco, S Guelfi, K D’Sa, ... BMC systems biology 11, 1-16, 2017 | 241 | 2017 |
| AMPA receptor GluA2 subunit defects are a cause of neurodevelopmental disorders V Salpietro, CL Dixon, H Guo, OD Bello, J Vandrovcova, S Efthymiou, ... Nature communications 10 (1), 3094, 2019 | 186 | 2019 |
| BACH2 immunodeficiency illustrates an association between super-enhancers and haploinsufficiency B Afzali, J Grönholm, J Vandrovcova, C O'Brien, HW Sun, I Vanderleyden, ... Nature immunology 18 (7), 813-823, 2017 | 137 | 2017 |
| Genetic architecture of sporadic frontotemporal dementia and overlap with Alzheimer's and Parkinson's diseases R Ferrari, Y Wang, J Vandrovcova, S Guelfi, A Witeolar, CM Karch, ... Journal of Neurology, Neurosurgery & Psychiatry 88 (2), 152-164, 2017 | 124 | 2017 |
| Periodontal Ehlers-Danlos syndrome is caused by mutations in C1R and C1S, which encode subcomponents C1r and C1s of complement I Kapferer-Seebacher, M Pepin, R Werner, TJ Aitman, A Nordgren, ... The American Journal of Human Genetics 99 (5), 1005-1014, 2016 | 121 | 2016 |
| Discovery and functional prioritization of Parkinson’s disease candidate genes from large-scale whole exome sequencing IE Jansen, H Ye, S Heetveld, MC Lechler, H Michels, RI Seinstra, ... Genome biology 18, 1-26, 2017 | 119 | 2017 |
| Biallelic mutations in SORD cause a common and potentially treatable hereditary neuropathy with implications for diabetes A Cortese, Y Zhu, AP Rebelo, S Negri, S Courel, L Abreu, CJ Bacon, ... Nature genetics 52 (5), 473-481, 2020 | 112 | 2020 |
| Whole genome sequencing for the diagnosis of neurological repeat expansion disorders in the UK: a retrospective diagnostic accuracy and prospective clinical validation study K Ibañez, J Polke, RT Hagelstrom, E Dolzhenko, D Pasko, ERA Thomas, ... The Lancet Neurology 21 (3), 234-245, 2022 | 89 | 2022 |
| Mutations in the neuronal vesicular SNARE VAMP2 affect synaptic membrane fusion and impair human neurodevelopment V Salpietro, NT Malintan, I Llano-Rivas, CG Spaeth, S Efthymiou, ... The American Journal of Human Genetics 104 (4), 721-730, 2019 | 89 | 2019 |
| Clinical and pathological features of an Alzheimer's disease patient with the MAPT ΔK280 mutation P Momeni, A Pittman, T Lashley, J Vandrovcova, E Malzer, C Luk, ... Neurobiology of aging 30 (3), 388-393, 2009 | 80 | 2009 |
