Xavier Estivill MD PhD

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Soavtorji

Teresa CasalsHuman Molecular Genetics Group. IDIBELLPreverjeni e-poštni naslov na idibell.cat
paolo gaspariniIRCCS-Burlo Garofolo, UNiversity of TRiestePreverjeni e-poštni naslov na burlo.trieste.it
Raquel RabionetUniversitat de Barcelona, Institut de Recerca Sant Joan de Déu, IBUBPreverjeni e-poštni naslov na ub.edu
Rafael de CidIGTPPreverjeni e-poštni naslov na igtp.cat
Juan R. GonzalezInstituto de Salud Global Barcelona (ISGlobal)Preverjeni e-poštni naslov na isglobal.org
Dierssen MaraCenter for Genomic RegulationPreverjeni e-poštni naslov na crg.eu
Eulalia MartiAssociate Professor; Group LeaderPreverjeni e-poštni naslov na ub.edu
Miguel ChillonICREA and Universitat Autonoma BarcelonaPreverjeni e-poštni naslov na uab.es
menchonPreverjeni e-poštni naslov na bellvitgehospital.cat
Nuria MorralIndiana University School of MedicinePreverjeni e-poštni naslov na iu.edu
Fernando Fernandez-ArandaFull Prof. Psychology,University of Barcelona, ICREA Academia, University Hospital Bellvitge-IDIBELLPreverjeni e-poštni naslov na ub.edu
Marta RibasesSenior PIPreverjeni e-poštni naslov na vhir.org
Lauro SumoyIGTPPreverjeni e-poštni naslov na igtp.cat
Mercader JMBroad Institute of Harvard and MIT. Barcelona Supercomputing Center. Center for Genomic RegulationPreverjeni e-poštni naslov na broadinstitute.org
Elisabet ArsMolecular Biology Laboratory at Fundació Puigvert, BarcelonaPreverjeni e-poštni naslov na fundacio-puigvert.es
Caty CasasScientist and Lecturer in Physiology, Institute of Neuroscience, Universitat Autònoma de BarcelonaPreverjeni e-poštni naslov na uab.es
Stephan OssowskiInstitute of Medical Genetics and Applied Genomics, University of Tübingen, Tübingen, GermanyPreverjeni e-poštni naslov na crg.eu
Nuria Lopez-BigasICREA Research Professor at the Institute for Research in BiomedicinePreverjeni e-poštni naslov na irbbarcelona.org
Eduard SerraResearcher, Germans Trias i Pujol Research Institute (IGTP)Preverjeni e-poštni naslov na igtp.cat
Peter ScamblerEmeritus Professor of Molecular MedicinePreverjeni e-poštni naslov na ich.ucl.ac.uk

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Xavier Estivill MD PhD

qGenomics (Quantitative Genomics Laboratories)

Preverjeni e-poštni naslov na qgenomics.com - Domača stran

human genetics genomics sequencing rare disorders psychiatric genetics


Naslov Razvrsti po navedbah Razvrsti po letniku Razvrsti po naslovu	Navedeno Navedeno	Leto
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	6062	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	5527	2006
Pan-cancer analysis of whole genomes Nature 578 (7793), 82-93, 2020	2544*	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	2128	2013
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	1964	2011
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	1294	2012
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	1160	1995
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	1122	2012
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	1077	2015
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	1059	2010
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	1040	2019
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	907	2007
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	892	1997
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	869	1998
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	858	2008
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	701	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	693	1998
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	648	2020
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	641	2009
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	580	2011

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