Guidelines for the use and interpretation of assays for monitoring autophagy (4th edition)1 DJ Klionsky, AK Abdel-Aziz, S Abdelfatah, M Abdellatif, A Abdoli, S Abel, ... autophagy 17 (1), 1-382, 2021 | 13502* | 2021 |
Genetic meta-analysis of diagnosed Alzheimer’s disease identifies new risk loci and implicates Aβ, tau, immunity and lipid processing BW Kunkle, B Grenier-Boley, R Sims, JC Bis, V Damotte, AC Naj, ... Nature genetics 51 (3), 414-430, 2019 | 2480 | 2019 |
Genealogies of mouse inbred strains JA Beck, S Lloyd, M Hafezparast, M Lennon-Pierce, JT Eppig, ... Nature genetics 24 (1), 23-25, 2000 | 1541 | 2000 |
The sex-determining region of the human Y chromosome encodes a finger protein DC Page, R Mosher, EM Simpson, EMC Fisher, G Mardon, J Pollack, ... cell 51 (6), 1091-1104, 1987 | 1088 | 1987 |
Mutations in the endosomal ESCRTIII-complex subunit CHMP2B in frontotemporal dementia G Skibinski, NJ Parkinson, JM Brown, L Chakrabarti, SL Lloyd, ... Nature genetics 37 (8), 806-808, 2005 | 1017 | 2005 |
Behavioral and functional analysis of mouse phenotype: SHIRPA, a proposed protocol for comprehensive phenotype assessment DC Rogers, EMC Fisher, SDM Brown, J Peters, AJ Hunter, JE Martin Mammalian Genome 8 (10), 711-713, 1997 | 899 | 1997 |
Mutations in dynein link motor neuron degeneration to defects in retrograde transport M Hafezparast, R Klocke, C Ruhrberg, A Marquardt, A Ahmad-Annuar, ... Science 300 (5620), 808-812, 2003 | 842 | 2003 |
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 | 807 | 2021 |
C9orf72 repeat expansions cause neurodegeneration in Drosophila through arginine-rich proteins S Mizielinska, S Grönke, T Niccoli, CE Ridler, EL Clayton, A Devoy, ... Science 345 (6201), 1192-1194, 2014 | 803 | 2014 |
A systematic, genome-wide, phenotype-driven mutagenesis programme for gene function studies in the mouse PM Nolan, J Peters, M Strivens, D Rogers, J Hagan, N Spurr, IC Gray, ... Nature genetics 25 (4), 440-443, 2000 | 769 | 2000 |
Mutation of Celsr1 disrupts planar polarity of inner ear hair cells and causes severe neural tube defects in the mouse JA Curtin, E Quint, V Tsipouri, RM Arkell, B Cattanach, AJ Copp, ... Current Biology 13 (13), 1129-1133, 2003 | 723 | 2003 |
Functional multivesicular bodies are required for autophagic clearance of protein aggregates associated with neurodegenerative disease M Filimonenko, S Stuffers, C Raiborg, A Yamamoto, L Malerřd, ... The Journal of cell biology 179 (3), 485-500, 2007 | 716 | 2007 |
A genetic cause of Alzheimer disease: mechanistic insights from Down syndrome FK Wiseman, T Al-Janabi, J Hardy, A Karmiloff-Smith, D Nizetic, ... Nature Reviews Neuroscience 16 (9), 564-574, 2015 | 600 | 2015 |
A genome-wide investigation of SNPs and CNVs in schizophrenia AC Need, D Ge, ME Weale, J Maia, S Feng, EL Heinzen, KV Shianna, ... PLoS genetics 5 (2), e1000373, 2009 | 573 | 2009 |
Molecular mapping of Alzheimer‐type dementia in Down's syndrome VP Prasher, MJ Farrer, AM Kessling, EMC Fisher, RJ West, PC Barber, ... Annals of neurology 43 (3), 380-383, 1998 | 543 | 1998 |
An aneuploid mouse strain carrying human chromosome 21 with Down syndrome phenotypes A O'Doherty, S Ruf, C Mulligan, V Hildreth, ML Errington, S Cooke, ... Science 309 (5743), 2033-2037, 2005 | 536 | 2005 |
ALS phenotypes with mutations in CHMP2B (charged multivesicular body protein 2B) N Parkinson, PG Ince, MO Smith, R Highley, G Skibinski, PM Andersen, ... Neurology 67 (6), 1074-1077, 2006 | 524 | 2006 |
The origins and uses of mouse outbred stocks R Chia, F Achilli, MFW Festing, EMC Fisher Nature genetics 37 (11), 1181-1186, 2005 | 501 | 2005 |
Homologous ribosomal protein genes on the human X and Y chromosomes: escape from X inactivation and possible implications for Turner syndrome EMC Fisher, P Beer-Romero, LG Brown, A Ridley, JA McNeil, ... Cell 63 (6), 1205-1218, 1990 | 491 | 1990 |
Balancing selection at the prion protein gene consistent with prehistoric kurulike epidemics S Mead, MPH Stumpf, J Whitfield, JA Beck, M Poulter, T Campbell, ... Science 300 (5619), 640-643, 2003 | 489 | 2003 |