DECIPHER: database of chromosomal imbalance and phenotype in humans using ensembl resources HV Firth, SM Richards, AP Bevan, S Clayton, M Corpas, D Rajan, ... The American Journal of Human Genetics 84 (4), 524-533, 2009 | 1925 | 2009 |
Prevalence and architecture of de novo mutations in developmental disorders Nature 542 (7642), 433-438, 2017 | 929 | 2017 |
Genetic diagnosis of developmental disorders in the DDD study: a scalable analysis of genome-wide research data CF Wright, TW Fitzgerald, WD Jones, S Clayton, JF McRae, ... The Lancet 385 (9975), 1305-1314, 2015 | 828 | 2015 |
Large-scale discovery of novel genetic causes of developmental disorders. DDD Study Nature 519 (7542), 223-228, 2015 | 765 | 2015 |
Peroxovanadium compounds. A new class of potent phosphotyrosine phosphatase inhibitors which are insulin mimetics. BI Posner, R Faure, JW Burgess, AP Bevan, D Lachance, G Zhang-Sun, ... Journal of Biological Chemistry 269 (6), 4596-4604, 1994 | 655 | 1994 |
An overview of Ensembl E Birney, TD Andrews, P Bevan, M Caccamo, Y Chen, L Clarke, G Coates, ... Genome research 14 (5), 925-928, 2004 | 562 | 2004 |
Recurrent emergence of SARS-CoV-2 spike deletion H69/V70 and its role in the Alpha variant B. 1.1. 7 B Meng, SA Kemp, G Papa, R Datir, IATM Ferreira, S Marelli, WT Harvey, ... Cell reports 35 (13), 2021 | 431 | 2021 |
Insulin signalling P Bevan Journal of cell science 114 (8), 1429-1430, 2001 | 343 | 2001 |
Ensembl 2002: accommodating comparative genomics M Clamp, D Andrews, D Barker, P Bevan, G Cameron, Y Chen, L Clark, ... Nucleic Acids Research 31 (1), 38-42, 2003 | 292 | 2003 |
DECIPHER: database for the interpretation of phenotype-linked plausibly pathogenic sequence and copy-number variation E Bragin, EA Chatzimichali, CF Wright, ME Hurles, HV Firth, AP Bevan, ... Nucleic acids research 42 (D1), D993-D1000, 2014 | 251 | 2014 |
Ensembl 2004 E Birney, D Andrews, P Bevan, M Caccamo, G Cameron, Y Chen, ... Nucleic acids research 32 (suppl_1), D468-D470, 2004 | 234 | 2004 |
Cellular and subcellular distribution of polycystin-2, the protein product of the PKD2 gene L Foggensteiner, AP Bevan, R Thomas, N Coleman, C Boulter, J Bradley, ... Journal of the American Society of Nephrology 11 (5), 814-827, 2000 | 211 | 2000 |
Histone lysine methylases and demethylases in the landscape of human developmental disorders V Faundes, WG Newman, L Bernardini, N Canham, J Clayton-Smith, ... The American Journal of Human Genetics 102 (1), 175-187, 2018 | 210 | 2018 |
The deciphering developmental disorders (DDD) study HV Firth, CF Wright Developmental medicine and child neurology 53 (8), 702, 2011 | 190 | 2011 |
Peroxovanadium compounds: biological actions and mechanism of insulin-mimesis AP Bevan, PG Drake, JF Yale, A Shaver, BI Posner Vanadium Compounds: Biochemical and Therapeutic Applications, 49-58, 1995 | 159 | 1995 |
Not all SCN1A epileptic encephalopathies are Dravet syndrome: Early profound Thr226Met phenotype LG Sadleir, EI Mountier, D Gill, S Davis, C Joshi, C DeVile, MA Kurian, ... Neurology 89 (10), 1035-1042, 2017 | 126 | 2017 |
Selective activation of the rat hepatic endosomal insulin receptor kinase: role for the endosome in insulin signaling AP Bevan, JW Burgess, PG Drake, A Shaver, JJM Bergeron, BI Posner Journal of Biological Chemistry 270 (18), 10784-10791, 1995 | 103 | 1995 |
Global public perceptions of genomic data sharing: what shapes the willingness to donate DNA and health data? A Middleton, R Milne, MA Almarri, S Anwer, J Atutornu, EE Baranova, ... The American Journal of Human Genetics 107 (4), 743-752, 2020 | 98 | 2020 |
CHD3 helicase domain mutations cause a neurodevelopmental syndrome with macrocephaly and impaired speech and language L Snijders Blok, J Rousseau, J Twist, S Ehresmann, M Takaku, ... Nature communications 9 (1), 4619, 2018 | 98 | 2018 |
DECIPHER: web-based, community resource for clinical interpretation of rare variants in developmental disorders GJ Swaminathan, E Bragin, EA Chatzimichali, M Corpas, AP Bevan, ... Human molecular genetics 21 (R1), R37-R44, 2012 | 89 | 2012 |