| Identification and analysis of functional elements in 1% of the human genome by the ENCODE pilot project ENCODE Project Consortium Nature 447 (7146), 799, 2007 | 4887 | 2007 |
| Global variation in copy number in the human genome R Redon, S Ishikawa, KR Fitch, L Feuk, GH Perry, TD Andrews, H Fiegler, ... Nature 444 (7118), 444-454, 2006 | 4432 | 2006 |
| International network of cancer genome projects International Cancer Genome Consortium Nature 464 (7291), 993, 2010 | 1474 | 2010 |
| Lifetime prevalence and age-of-onset distributions of mental disorders in the World Health Organization's World Mental Health Survey Initiative RC Kessler, M Angermeyer, JC Anthony, RON De Graaf, K Demyttenaere, ... World psychiatry 6 (3), 168, 2007 | 1382 | 2007 |
| Whole-genome sequencing identifies recurrent mutations in chronic lymphocytic leukaemia XS Puente, M Pinyol, V Quesada, L Conde, GR Ordóñez, N Villamor, ... Nature 475 (7354), 101, 2011 | 1368 | 2011 |
| Transcriptome and genome sequencing uncovers functional variation in humans T Lappalainen, M Sammeth, MR Friedländer, P AC‘t Hoen, J Monlong, ... Nature 501 (7468), 506, 2013 | 1243 | 2013 |
| Mutations in the cystic fibrosis gene in patients with congenital absence of the vas deferens M Chillón, T Casals, B Mercier, L Bassas, W Lissens, S Silber, MC Romey, ... New England Journal of Medicine 332 (22), 1475-1480, 1995 | 949 | 1995 |
| Exome sequencing identifies recurrent mutations of the splicing factor SF3B1 gene in chronic lymphocytic leukemia V Quesada, L Conde, N Villamor, GR Ordóñez, P Jares, L Bassaganyas, ... Nature genetics 44 (1), 47, 2012 | 875 | 2012 |
| Connexin-26 mutations in sporadic and inherited sensorineural deafness X Estivill, P Fortina, S Surrey, R Rabionet, S Melchionda, L D'Agruma, ... The Lancet 351 (9100), 394-398, 1998 | 780 | 1998 |
| Connexin26 mutations associated with the most common form of non-syndromic neurosensory autosomal recessive deafness (DFNB1) in Mediterraneans L Zelante, P Gasparini, X Estivill, S Melchionda, L D'Agruma, N Govea, ... Human molecular genetics 6 (9), 1605-1609, 1997 | 769 | 1997 |
| A genome-wide association study identifies new psoriasis susceptibility loci and an interaction between HLA-C and ERAP1 A Strange, F Capon, CCA Spencer, J Knight, ME Weale, MH Allen, ... Nature genetics 42 (11), 985, 2010 | 754 | 2010 |
| Recurrent rearrangements of chromosome 1q21. 1 and variable pediatric phenotypes HC Mefford, AJ Sharp, C Baker, A Itsara, Z Jiang, K Buysse, S Huang, ... New England Journal of Medicine 359 (16), 1685-1699, 2008 | 680 | 2008 |
| 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, 2012 | 666 | 2012 |
| SNPassoc: an R package to perform whole genome association studies JR González, L Armengol, X Solé, E Guinó, JM Mercader, X Estivill, ... Bioinformatics 23 (5), 654-655, 2007 | 616 | 2007 |
| Familial progressive sensorineural deafness is mainly due to the mtDNA A1555G mutation and is enhanced by treatment with aminoglycosides X Estivill, N Govea, A Barceló, E Perelló, C Badenas, E Romero, L Moral, ... The American Journal of Human Genetics 62 (1), 27-35, 1998 | 609 | 1998 |
| Dating the origin of the CCR5-Δ32 AIDS-resistance allele by the coalescence of haplotypes JC Stephens, DE Reich, DB Goldstein, HD Shin, MW Smith, M Carrington, ... The American Journal of Human Genetics 62 (6), 1507-1515, 1998 | 580 | 1998 |
| Deletion of the late cornified envelope LCE3B and LCE3C genes as a susceptibility factor for psoriasis R De Cid, E Riveira-Munoz, PLJM Zeeuwen, J Robarge, W Liao, ... Nature genetics 41 (2), 211, 2009 | 498 | 2009 |
| Continuum of overlapping clones spanning the entire human chromosome 21q I Chumakov, P Rigault, S Guillou, P Ougen, A Billaut, G Guasconi, ... Nature 359 (6394), 380-387, 1992 | 496 | 1992 |
| High carrier frequency of the 35delG deafness mutation in European populations. Genetic Analysis Consortium of GJB2 35delG. P Gasparini, R Rabionet, G Barbujani, S Melchionda, M Petersen, ... European journal of human genetics: EJHG 8 (1), 19-23, 2000 | 495* | 2000 |
| DSCR1, overexpressed in Down syndrome, is an inhibitor of calcineurin-mediated signaling pathways JJ Fuentes, L Genescà, TJ Kingsbury, KW Cunningham, M Pérez-Riba, ... Human molecular genetics 9 (11), 1681-1690, 2000 | 473 | 2000 |
Teresa CasalsHuman Molecular Genetics Group. IDIBELLVerified email at idibell.cat
