دنبال کردن
Xavier Estivill MD PhD
Xavier Estivill MD PhD
qGenomics (Quantitative Genomics Laboratories)
ایمیل تأیید شده در qgenomics.com - صفحهٔ اصلی
عنوان
نقل شده توسط
نقل شده توسط
سال
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
60612007
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
55272006
Pan-cancer analysis of whole genomes‏
Nature 578 (7793), 82-93, 2020‏
2545*2020
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
21282013
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
19642011
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
12952012
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
11601995
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
11222012
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
10772015
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
10592010
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
10402019
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
9072007
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
8921997
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
8691998
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
8582008
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
7011998
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
6931998
Comprehensive analysis of chromothripsis in 2,658 human cancers using whole-genome sequencing‏
I Cortés-Ciriano, JJK Lee, R Xi, D Jain, YL Jung, L Yang, D Gordenin, ...‏
Nature genetics 52 (3), 331-341, 2020‏
6482020
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
6412009
MicroRNA profiling of Parkinson's disease brains identifies early downregulation of miR-34b/c which modulate mitochondrial function‏
E Minones-Moyano, S Porta, G Escaramís, R Rabionet, S Iraola, ...‏
Human molecular genetics 20 (15), 3067-3078, 2011‏
5802011
سیستم در حال حاضر قادر به انجام عملکرد نیست. بعداً دوباره امتحان کنید.
مقاله‌ها 1–20