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Xavier Estivill MD PhD
Xavier Estivill MD PhD
qGenomics (Quantitative Genomics Laboratories)
Bestätigte E-Mail-Adresse bei qgenomics.com - Startseite
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Zitiert von
Zitiert von
Jahr
Identification and analysis of functional elements in 1% of the human genome by the ENCODE pilot project
Management Group Liefer Laura A. 51 Wetterstrand Kris A. 51 Good Peter J. 51 ...
nature 447 (7146), 799-816, 2007
58272007
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
53082006
International network of cancer genome projects
Data coordination centre Kasprzyk (Leader) Arek 1 Stein (Leader) Lincoln D ...
Nature 464 (7291), 993-998, 2010
21622010
Transcriptome and genome sequencing uncovers functional variation in humans
T Lappalainen, M Sammeth, MR Friedländer, PAC ‘t Hoen, J Monlong, ...
Nature 501 (7468), 506-511, 2013
19572013
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), 101-105, 2011
18182011
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), 47-52, 2012
12032012
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
11031995
A genome-wide association study identifies new psoriasis susceptibility loci and an interaction between HLA-C and ERAP1
Nature genetics 42 (11), 985-990, 2010
10462010
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
10102012
Non-coding recurrent mutations in chronic lymphocytic leukaemia
XS Puente, S Beà, R Valdés-Mas, N Villamor, J Gutiérrez-Abril, ...
Nature 526 (7574), 519-524, 2015
9532015
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
8691997
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
8481998
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
8282008
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
8232007
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
6891998
Genome-wide association study identifies eight risk loci and implicates metabo-psychiatric origins for anorexia nervosa
HJ Watson, Z Yilmaz, LM Thornton, C Hübel, JRI Coleman, HA Gaspar, ...
Nature genetics 51 (8), 1207-1214, 2019
6882019
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
6751998
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), 211-215, 2009
6032009
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
5622000
Copy number variants and genetic traits: closer to the resolution of phenotypic to genotypic variability
JS Beckmann, X Estivill, SE Antonarakis
Nature Reviews Genetics 8 (8), 639-646, 2007
5472007
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