| Genome-wide scan reveals association of psoriasis with IL-23 and NF-κB pathways RP Nair, KC Duffin, C Helms, J Ding, PE Stuart, D Goldgar, ... Nature genetics 41 (2), 199-204, 2009 | 1600 | 2009 |
| Identification of 15 new psoriasis susceptibility loci highlights the role of innate immunity LC Tsoi, SL Spain, J Knight, E Ellinghaus, PE Stuart, F Capon, J Ding, ... Nature genetics 44 (12), 1341-1348, 2012 | 1050 | 2012 |
| A genome-wide association study of psoriasis and psoriatic arthritis identifies new disease loci Y Liu, C Helms, W Liao, LC Zaba, S Duan, J Gardner, C Wise, A Miner, ... PLoS genetics 4 (4), e1000041, 2008 | 820 | 2008 |
| Pyrin binds the PSTPIP1/CD2BP1 protein, defining familial Mediterranean fever and PAPA syndrome as disorders in the same pathway NG Shoham, M Centola, E Mansfield, KM Hull, G Wood, CA Wise, ... Proceedings of the National Academy of Sciences 100 (23), 13501-13506, 2003 | 586 | 2003 |
| Inactivating mutations in an SH2 domain-encoding gene in X-linked lymphoproliferative syndrome KE Nichols, DP Harkin, S Levitz, M Krainer, KA Kolquist, C Genovese, ... Proceedings of the National Academy of Sciences 95 (23), 13765-13770, 1998 | 575 | 1998 |
| Mutations in CD2BP1 disrupt binding to PTP PEST and are responsible for PAPA syndrome, an autoinflammatory disorder CA Wise, JD Gillum, CE Seidman, NM Lindor, R Veile, S Bashiardes, ... Human molecular genetics 11 (8), 961-969, 2002 | 537 | 2002 |
| Charcot–Marie–Tooth type 1A duplication appears to arise from recombination at repeat sequences flanking the 1.5 Mb monomer unit L Pentao, CA Wise, AC Chinault, PI Patel, JR Lupski Nature genetics 2 (4), 292-300, 1992 | 462 | 1992 |
| Charcot-Marie-Tooth Disease Type 1A--Association with a Spontaneous Point Mutation in the PMP22 Gene BB Roa, CA Garcia, U Suter, DA Kulpa, CA Wise, J Mueller, AA Welcher, ... New England Journal of Medicine 329 (2), 96-101, 1993 | 422 | 1993 |
| Rare and common variants in CARD14, encoding an epidermal regulator of NF-kappaB, in psoriasis CT Jordan, L Cao, EDO Roberson, S Duan, CA Helms, RP Nair, KC Duffin, ... The American Journal of Human Genetics 90 (5), 796-808, 2012 | 393 | 2012 |
| Infevers: an evolving mutation database for auto‐inflammatory syndromes I Touitou, S Lesage, M McDermott, L Cuisset, H Hoffman, C Dode, ... Human mutation 24 (3), 194-198, 2004 | 368 | 2004 |
| Gene dosage is a mechanism for Charcot-Marie-Tooth disease type 1A JR Lupski, CA Wise, A Kuwano, L Pentao, JT Parke, DG Glaze, ... Nature genetics 1 (1), 29-33, 1992 | 354 | 1992 |
| The infevers autoinflammatory mutation online registry: update with new genes and functions F Milhavet, L Cuisset, HM Hoffman, R Slim, H El‐Shanti, I Aksentijevich, ... Human mutation 29 (6), 803-808, 2008 | 310 | 2008 |
| Genetic variants in GPR126 are associated with adolescent idiopathic scoliosis I Kou, Y Takahashi, TA Johnson, A Takahashi, L Guo, J Dai, X Qiu, ... Nature genetics 45 (6), 676-679, 2013 | 284 | 2013 |
| Mutations in the pre-replication complex cause Meier-Gorlin syndrome LS Bicknell, EMHF Bongers, A Leitch, S Brown, J Schoots, ME Harley, ... Nature genetics 43 (4), 356-359, 2011 | 270 | 2011 |
| Meta-analysis of shared genetic architecture across ten pediatric autoimmune diseases YR Li, J Li, SD Zhao, JP Bradfield, FD Mentch, SM Maggadottir, C Hou, ... Nature medicine 21 (9), 1018-1027, 2015 | 269 | 2015 |
| Blood leukocyte microarrays to diagnose systemic onset juvenile idiopathic arthritis and follow the response to IL-1 blockade F Allantaz, D Chaussabel, D Stichweh, L Bennett, W Allman, A Mejias, ... The Journal of experimental medicine 204 (9), 2131-2144, 2007 | 264 | 2007 |
| Molecular analyses of unrelated Charcot-Marie-Tooth (CMT) disease patients suggest a high frequency of the CMTIA duplication. CA Wise, CA Garcia, SN Davis, Z Heju, L Pentao, PI Patel, JR Lupski American journal of human genetics 53 (4), 853, 1993 | 263 | 1993 |
| Association of TALS developmental disorder with defect in minor splicing component U4atac snRNA P Edery, C Marcaillou, M Sahbatou, A Labalme, J Chastang, R Touraine, ... Science 332 (6026), 240-243, 2011 | 241 | 2011 |
| CHD7 gene polymorphisms are associated with susceptibility to idiopathic scoliosis X Gao, D Gordon, D Zhang, R Browne, C Helms, J Gillum, S Weber, ... The American Journal of Human Genetics 80 (5), 957-965, 2007 | 235 | 2007 |
| Mutations in ORC1, encoding the largest subunit of the origin recognition complex, cause microcephalic primordial dwarfism resembling Meier-Gorlin syndrome LS Bicknell, S Walker, A Klingseisen, T Stiff, A Leitch, C Kerzendorfer, ... Nature genetics 43 (4), 350-355, 2011 | 228 | 2011 |
Christina A GurnettProfessor of Neurology, Washington University in St LouisVerified email at neuro.wustl.edu
