| Positional cloning of the APECED gene K Nagamine, P Peterson, HS Scott, J Kudoh, S Minoshima, M Heino, ... Nature genetics 17 (4), 393-398, 1997 | 1675 | 1997 |
| Use of within-array replicate spots for assessing differential expression in microarray experiments GK Smyth, J Michaud, HS Scott Bioinformatics 21 (9), 2067-2075, 2005 | 1627 | 2005 |
| TWEAK, a new secreted ligand in the tumor necrosis factor family that weakly induces apoptosis Y Chicheportiche, PR Bourdon, H Xu, YM Hsu, H Scott, C Hession, ... Journal of Biological Chemistry 272 (51), 32401-32410, 1997 | 1000 | 1997 |
| A network-biology perspective of microRNA function and dysfunction in cancer CP Bracken, HS Scott, GJ Goodall Nature Reviews Genetics 17 (12), 719-732, 2016 | 732 | 2016 |
| Heritable GATA2 mutations associated with familial myelodysplastic syndrome and acute myeloid leukemia CN Hahn, CE Chong, CL Carmichael, EJ Wilkins, PJ Brautigan, XC Li, ... Nature genetics 43 (10), 1012-1017, 2011 | 713 | 2011 |
| RANK signals from CD4+3− inducer cells regulate development of Aire-expressing epithelial cells in the thymic medulla SW Rossi, MY Kim, A Leibbrandt, SM Parnell, WE Jenkinson, ... The Journal of experimental medicine 204 (6), 1267-1272, 2007 | 552 | 2007 |
| In vitro analyses of known and novel RUNX1/AML1 mutations in dominant familial platelet disorder with predisposition to acute myelogenous leukemia: implications for mechanisms … J Michaud, F Wu, M Osato, GM Cottles, M Yanagida, N Asou, ... Blood, The Journal of the American Society of Hematology 99 (4), 1364-1372, 2002 | 448 | 2002 |
| Dodecamer repeat expansion in cystatin B gene in progressive myoclonus epilepsy MD Lalioti, HS Scott, C Buresi, C Rossier, A Bottani, MA Morris, ... Nature 386 (6627), 847-851, 1997 | 428 | 1997 |
| Isolation and initial characterization of a novel zinc finger gene, DNMT3L, on 21q22. 3, related to the cytosine-5-methyltransferase 3 gene family U Aapola, K Shibuya, HS Scott, J Ollila, M Vihinen, M Heino, A Shintani, ... Genomics 65 (3), 293-298, 2000 | 424 | 2000 |
| A recurrent germline PAX5 mutation confers susceptibility to pre-B cell acute lymphoblastic leukemia S Shah, KA Schrader, E Waanders, AE Timms, J Vijai, C Miething, ... Nature genetics 45 (10), 1226-1231, 2013 | 367 | 2013 |
| Meiotic and epigenetic defects in Dnmt3L-knockout mouse spermatogenesis KE Webster, MK O'Bryan, S Fletcher, PE Crewther, U Aapola, J Craig, ... Proceedings of the National Academy of Sciences 102 (11), 4068-4073, 2005 | 361 | 2005 |
| Gene Dosage–limiting Role of Aire in Thymic Expression, Clonal Deletion, and Organ-specific Autoimmunity A Liston, DHD Gray, S Lesage, AL Fletcher, J Wilson, KE Webster, ... The Journal of experimental medicine 200 (8), 1015-1026, 2004 | 353 | 2004 |
| Autoimmune regulator is expressed in the cells regulating immune tolerance in thymus medulla M Heino, P Peterson, J Kudoh, K Nagamine, A Lagerstedt, V Ovod, ... Biochemical and biophysical research communications 257 (3), 821-825, 1999 | 349 | 1999 |
| Autoimmune polyendocrine syndrome type 1 and NALP5, a parathyroid autoantigen M Alimohammadi, P Björklund, Å Hallgren, N Pöntynen, G Szinnai, ... New England Journal of Medicine 358 (10), 1018-1028, 2008 | 314 | 2008 |
| Loss-of-function germline GATA2 mutations in patients with MDS/AML or MonoMAC syndrome and primary lymphedema reveal a key role for GATA2 in the … J Kazenwadel, GA Secker, YJ Liu, JA Rosenfeld, RS Wildin, ... Blood, The Journal of the American Society of Hematology 119 (5), 1283-1291, 2012 | 309 | 2012 |
| A common mutation in Sardinian autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy patients MC Rosatelli, A Meloni, A Meloni, M Devoto, A Cao, HS Scott, P Peterson, ... Human genetics 103, 428-434, 1998 | 303 | 1998 |
| Insertion of β-satellite repeats identifies a transmembrane protease causing both congenital and childhood onset autosomal recessive deafness HS Scott, J Kudoh, M Wattenhofer, K Shibuya, A Berry, R Chrast, ... Nature genetics 27 (1), 59-63, 2001 | 286 | 2001 |
| Autoantigen-specific interactions with CD4+ thymocytes control mature medullary thymic epithelial cell cellularity M Irla, S Hugues, J Gill, T Nitta, Y Hikosaka, IR Williams, FX Hubert, ... Immunity 29 (3), 451-463, 2008 | 284 | 2008 |
| The autoimmune regulator protein has transcriptional transactivating properties and interacts with the common coactivator CREB-binding protein J Pitkänen, V Doucas, T Sternsdorf, T Nakajima, S Aratani, K Jensen, ... Journal of Biological Chemistry 275 (22), 16802-16809, 2000 | 284 | 2000 |
| Loss of LKB1 kinase activity in Peutz-Jeghers syndrome, and evidence for allelic and locus heterogeneity H Mehenni, C Gehrig, J Nezu, A Oku, M Shimane, C Rossier, N Guex, ... The American Journal of Human Genetics 63 (6), 1641-1650, 1998 | 263 | 1998 |
Stylianos E. AntonarakisProfessor of Genetic Medicine, University of Geneva Medical SchoolVerified email at unige.ch
