Xavier Estivill MD PhD

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Teresa CasalsHuman Molecular Genetics Group. IDIBELLCorreu electrònic verificat a idibell.cat
paolo gaspariniIRCCS-Burlo Garofolo, UNiversity of TRiesteCorreu electrònic verificat a burlo.trieste.it
Raquel RabionetUniversitat de Barcelona, Institut de Recerca Sant Joan de Déu, IBUBCorreu electrònic verificat a ub.edu
Rafael de CidIGTPCorreu electrònic verificat a igtp.cat
Juan R. GonzalezInstituto de Salud Global Barcelona (ISGlobal)Correu electrònic verificat a isglobal.org
Dierssen MaraCenter for Genomic RegulationCorreu electrònic verificat a crg.eu
Eulalia MartiAssociate Professor; Group LeaderCorreu electrònic verificat a ub.edu
Miguel ChillonICREA and Universitat Autonoma BarcelonaCorreu electrònic verificat a uab.es
menchonCorreu electrònic verificat a bellvitgehospital.cat
Nuria MorralIndiana University School of MedicineCorreu electrònic verificat a iu.edu
Fernando Fernandez-ArandaFull Professor University Barcelona, Scientific Director IDIBELL, Head ED Unit, DepartmentCorreu electrònic verificat a bellvitgehospital.cat
Marta RibasesSenior PICorreu electrònic verificat a vhir.org
Lauro SumoyIGTPCorreu electrònic verificat a igtp.cat
Elisabet ArsMolecular Biology Laboratory at Fundació Puigvert, BarcelonaCorreu electrònic verificat a fundacio-puigvert.es
Mercader JMBroad Institute of Harvard and MIT. Barcelona Supercomputing Center. Center for Genomic RegulationCorreu electrònic verificat a broadinstitute.org
Caty CasasScientist and Lecturer in Physiology, Institute of Neuroscience, Universitat Autònoma de BarcelonaCorreu electrònic verificat a uab.es
Nuria Lopez-BigasICREA Research Professor at the Institute for Research in BiomedicineCorreu electrònic verificat a irbbarcelona.org
Eduard SerraResearcher, Germans Trias i Pujol Research Institute (IGTP)Correu electrònic verificat a igtp.cat
Peter ScamblerEmeritus Professor of Molecular MedicineCorreu electrònic verificat a ich.ucl.ac.uk
Susana de la LunaCentre for Genomic Regulation (CRG), ICREA Research ProfessorCorreu electrònic verificat a crg.eu

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Xavier Estivill MD PhD

qGenomics (Quantitative Genomics Laboratories)

Correu electrònic verificat a qgenomics.com - Pàgina d'inici

human genetics genomics sequencing rare disorders psychiatric genetics


Títol Ordena per cites Ordena per any Ordena per títol	Citada per Citada per	Any
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	5784	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	5246	2006
International network of cancer genome projects Data coordination centre Kasprzyk (Leader) Arek 1 Stein (Leader) Lincoln D ... Nature 464 (7291), 993-998, 2010	2140	2010
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	1915	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	1788	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	1174	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	1087	1995
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	1021	2010
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	969	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	909	2015
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	852	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	829	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	819	2008
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	803	2007
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	678	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	670	1998
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	614	2019
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	604	2009
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	558	2000
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	544	2007

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