Xavier Estivill MD PhD

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Teresa CasalsHuman Molecular Genetics Group. IDIBELLVerifisert e-postadresse på idibell.cat
paolo gaspariniIRCCS-Burlo Garofolo, UNiversity of TRiesteVerifisert e-postadresse på burlo.trieste.it
Raquel RabionetUniversitat de Barcelona, Institut de Recerca Sant Joan de Déu, IBUBVerifisert e-postadresse på ub.edu
Rafael de CidIGTPVerifisert e-postadresse på igtp.cat
Juan R. GonzalezInstituto de Salud Global Barcelona (ISGlobal)Verifisert e-postadresse på isglobal.org
Dierssen MaraCenter for Genomic RegulationVerifisert e-postadresse på crg.eu
Eulalia MartiAssociate Professor; Group LeaderVerifisert e-postadresse på ub.edu
Miguel ChillonICREA and Universitat Autonoma BarcelonaVerifisert e-postadresse på uab.es
menchonVerifisert e-postadresse på bellvitgehospital.cat
Nuria MorralIndiana University School of MedicineVerifisert e-postadresse på iu.edu
Fernando Fernandez-ArandaFull Professor University Barcelona, Scientific Director IDIBELL, Head ED Unit, DepartmentVerifisert e-postadresse på bellvitgehospital.cat
Marta RibasesSenior PIVerifisert e-postadresse på vhir.org
Lauro SumoyIGTPVerifisert e-postadresse på igtp.cat
Mercader JMBroad Institute of Harvard and MIT. Barcelona Supercomputing Center. Center for Genomic RegulationVerifisert e-postadresse på broadinstitute.org
Elisabet ArsMolecular Biology Laboratory at Fundació Puigvert, BarcelonaVerifisert e-postadresse på fundacio-puigvert.es
Caty CasasScientist and Lecturer in Physiology, Institute of Neuroscience, Universitat Autònoma de BarcelonaVerifisert e-postadresse på uab.es
Stephan OssowskiInstitute of Medical Genetics and Applied Genomics, University of Tübingen, Tübingen, GermanyVerifisert e-postadresse på crg.eu
Nuria Lopez-BigasICREA Research Professor at the Institute for Research in BiomedicineVerifisert e-postadresse på irbbarcelona.org
Eduard SerraResearcher, Germans Trias i Pujol Research Institute (IGTP)Verifisert e-postadresse på igtp.cat
Peter ScamblerEmeritus Professor of Molecular MedicineVerifisert e-postadresse på ich.ucl.ac.uk

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Xavier Estivill MD PhD

qGenomics (Quantitative Genomics Laboratories)

Verifisert e-postadresse på qgenomics.com - Startside

human genetics genomics sequencing rare disorders psychiatric genetics


Tittel Sorter etter sitater Sorter etter år Sorter etter tittel	Sitert av Sitert av	År
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	6057	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	5512	2006
Pan-cancer analysis of whole genomes Nature 578 (7793), 82-93, 2020	2513*	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	2122	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	1955	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	1293	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	1156	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	1116	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	1069	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	1054	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	1018	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	905	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	857	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	643	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	636	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	577	2011

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