Mapping the human genetic architecture of COVID-19 Writing group Writing group leaders Pathak Gita A. 6 Andrews Shea J. 7 Kanai ... Nature 600 (7889), 472-477, 2021 | 842 | 2021 |
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 | 529 | 2021 |
PanelApp crowdsources expert knowledge to establish consensus diagnostic gene panels AR Martin, E Williams, RE Foulger, S Leigh, LC Daugherty, O Niblock, ... Nature genetics 51 (11), 1560-1565, 2019 | 447 | 2019 |
ExpansionHunter: a sequence-graph-based tool to analyze variation in short tandem repeat regions E Dolzhenko, V Deshpande, F Schlesinger, P Krusche, R Petrovski, ... Bioinformatics 35 (22), 4754-4756, 2019 | 282 | 2019 |
Genetic and phenotypic characterization of complex hereditary spastic paraplegia E Kara, A Tucci, C Manzoni, DS Lynch, M Elpidorou, C Bettencourt, ... Brain 139 (7), 1904-1918, 2016 | 228 | 2016 |
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 | 225 | 2019 |
Inhibition of NF-κB nuclear translocation via HO-1 activation underlies α-tocopheryl succinate toxicity I Bellezza, A Tucci, F Galli, S Grottelli, AL Mierla, F Pilolli, A Minelli The Journal of nutritional biochemistry 23 (12), 1583-1591, 2012 | 217 | 2012 |
Glucocerebrosidase mutations confer a greater risk of dementia during Parkinson's disease course N Setó‐Salvia, J Pagonabarraga, H Houlden, B Pascual‐Sedano, ... Movement Disorders 27 (3), 393-399, 2012 | 185 | 2012 |
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 | 137 | 2022 |
Mitochondria function associated genes contribute to Parkinson’s Disease risk and later age at onset KJ Billingsley, IA Barbosa, S Bandrés-Ciga, JP Quinn, VJ Bubb, ... npj Parkinson's Disease 5 (1), 8, 2019 | 117 | 2019 |
Genetic variability at the PARK16 locus A Tucci, MA Nalls, H Houlden, T Revesz, AB Singleton, NW Wood, ... European Journal of Human Genetics 18 (12), 1356-1359, 2010 | 116 | 2010 |
Moving beyond neurons: the role of cell type-specific gene regulation in Parkinson’s disease heritability RH Reynolds, J Botía, MA Nalls, J Hardy, SA Gagliano Taliun, M Ryten npj Parkinson's Disease 5 (1), 6, 2019 | 97 | 2019 |
Opportunities and challenges for molecular understanding of ciliopathies–the 100,000 genomes project G Wheway, Genomics England Research Consortium, HM Mitchison Frontiers in genetics 10, 127, 2019 | 94 | 2019 |
Loss‐of‐Function Variants in HOPS Complex Genes VPS16 and VPS41 Cause Early Onset Dystonia Associated with Lysosomal Abnormalities D Steel, M Zech, C Zhao, KES Barwick, D Burke, D Demailly, KR Kumar, ... Annals of neurology 88 (5), 867-877, 2020 | 93 | 2020 |
Pathogenic huntingtin repeat expansions in patients with frontotemporal dementia and amyotrophic lateral sclerosis R Dewan, R Chia, J Ding, RA Hickman, TD Stein, Y Abramzon, S Ahmed, ... Neuron 109 (3), 448-460. e4, 2021 | 81 | 2021 |
PDXK mutations cause polyneuropathy responsive to pyridoxal 5′‐phosphate supplementation V Chelban, MP Wilson, J Warman Chardon, J Vandrovcova, MN Zanetti, ... Annals of neurology 86 (2), 225-240, 2019 | 75 | 2019 |
Use of whole genome sequencing to determine genetic basis of suspected mitochondrial disorders: cohort study KR Schon, R Horvath, W Wei, C Calabrese, A Tucci, K Ibañez, T Ratnaike, ... Bmj 375, 2021 | 70 | 2021 |
Defective tubulin detyrosination causes structural brain abnormalities with cognitive deficiency in humans and mice AT Pagnamenta, P Heemeryck, HC Martin, C Bosc, L Peris, I Uszynski, ... Human Molecular Genetics 28 (20), 3391-3405, 2019 | 59 | 2019 |
Hereditary spastic paraplegia in Greece: characterisation of a previously unexplored population using next-generation sequencing DS Lynch, G Koutsis, A Tucci, M Panas, M Baklou, M Breza, G Karadima, ... European journal of human genetics 24 (6), 857-863, 2016 | 58 | 2016 |
Neuronal intranuclear inclusion disease is genetically heterogeneous Z Chen, W Yan Yau, Z Jaunmuktane, A Tucci, P Sivakumar, ... Annals of Clinical and Translational Neurology 7 (9), 1716-1725, 2020 | 54 | 2020 |