Xavier Estivill MD PhD
Xavier Estivill MD PhD
qGenomics (Quantitative Genomics Laboratories)
Dirección de correo verificada de qgenomics.com
TítuloCitado porAño
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
47832007
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
43352006
International network of cancer genome projects
International Cancer Genome Consortium
Nature 464 (7291), 993, 2010
14242010
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
13262011
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
13052007
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
11792013
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
9351995
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
8422012
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
7691998
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
7581997
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
7372010
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
6602008
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
6412012
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
6041998
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
6002007
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
5681998
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, 1992
4921992
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
4862009
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
481*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
4682000
El sistema no puede realizar la operación en estos momentos. Inténtalo de nuevo más tarde.
Artículos 1–20