Xavier Estivill MD PhD

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175 artykułów

11 artykułów

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Współautorzy

Teresa CasalsHuman Molecular Genetics Group. IDIBELLZweryfikowany adres z idibell.cat
paolo gaspariniIRCCS-Burlo Garofolo, UNiversity of TRiesteZweryfikowany adres z burlo.trieste.it
Raquel RabionetUniversitat de Barcelona, Institut de Recerca Sant Joan de Déu, IBUBZweryfikowany adres z ub.edu
Rafael de CidIGTPZweryfikowany adres z igtp.cat
Juan R. GonzalezInstituto de Salud Global Barcelona (ISGlobal)Zweryfikowany adres z isglobal.org
Dierssen MaraCenter for Genomic RegulationZweryfikowany adres z crg.eu
Eulalia MartiAssociate Professor; Group LeaderZweryfikowany adres z ub.edu
Miguel ChillonICREA and Universitat Autonoma BarcelonaZweryfikowany adres z uab.es
menchonZweryfikowany adres z bellvitgehospital.cat
Nuria MorralIndiana University School of MedicineZweryfikowany adres z iu.edu
Fernando Fernandez-ArandaFull Professor University Barcelona, Scientific Director IDIBELL, Head ED Unit, DepartmentZweryfikowany adres z bellvitgehospital.cat
Marta RibasesSenior PIZweryfikowany adres z vhir.org
Lauro SumoyIGTPZweryfikowany adres z igtp.cat
Mercader JMBroad Institute of Harvard and MIT. Barcelona Supercomputing Center. Center for Genomic RegulationZweryfikowany adres z broadinstitute.org
Elisabet ArsMolecular Biology Laboratory at Fundació Puigvert, BarcelonaZweryfikowany adres z fundacio-puigvert.es
Caty CasasScientist and Lecturer in Physiology, Institute of Neuroscience, Universitat Autònoma de BarcelonaZweryfikowany adres z uab.es
Stephan OssowskiInstitute of Medical Genetics and Applied Genomics, University of Tübingen, Tübingen, GermanyZweryfikowany adres z crg.eu
Nuria Lopez-BigasICREA Research Professor at the Institute for Research in BiomedicineZweryfikowany adres z irbbarcelona.org
Eduard SerraResearcher, Germans Trias i Pujol Research Institute (IGTP)Zweryfikowany adres z igtp.cat
Peter ScamblerEmeritus Professor of Molecular MedicineZweryfikowany adres z ich.ucl.ac.uk

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Xavier Estivill MD PhD

qGenomics (Quantitative Genomics Laboratories)

Zweryfikowany adres z qgenomics.com - Strona główna

human genetics genomics sequencing rare disorders psychiatric genetics


Tytuł Sortuj wg cytatów Sortuj wg roku Sortuj wg tytułu	Cytowane przez Cytowane przez	Rok
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	6061	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	2540*	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	1963	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	1295	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	1159	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	1120	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	1058	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	1038	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	640	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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