LUIS ALBERTO PÉREZ JURADO

Citada per

	Totes	Des de 2020
Citacions	12730	4702
Índex h	59	37
Índex i10	153	108

980

490

245

735

19961997199819992000200120022003200420052006200720082009201020112012201320142015201620172018201920202021202220232024202552 79 116 186 154 152 139 167 163 171 212 166 182 199 393 363 513 523 569 601 587 683 706 774 816 968 849 958 918 191

Accés públic

Mostra-ho tot

125 articles

13 articles

disponibles

no disponibles

Es basa en els requisits de les agències que proporcionen el finançament

Coautors

Jesús Argente, M.D., PhD.Hospital Infantil Universitario Niño Jesús & Universidad Autónoma de MadridCorreu electrònic verificat a fundacionendo.org
Cusco IHospital Universitari Vall d'HebronCorreu electrònic verificat a vhebron.net
Uta FranckeProfessor of Genetics, Stanford UniversityCorreu electrònic verificat a stanford.edu
miguel del campo casanellesProfesor de Pediatria, Universidad de California San DiegoCorreu electrònic verificat a health.ucsd.edu
Pablo LapunzinaProfessor of Human Genetics; Hospital Universitario La Paz and CIBERER Researcher; INGEMMCorreu electrònic verificat a salud.madrid.org
Juan R. GonzalezInstituto de Salud Global Barcelona (ISGlobal)Correu electrònic verificat a isglobal.org
Alejandro CaceresSenior statistician, ISGlobalCorreu electrònic verificat a isglobal.org
Xavier Estivill MD PhDqGenomics (Quantitative Genomics Laboratories)Correu electrònic verificat a qgenomics.com
Stephen ChanockNIHCorreu electrònic verificat a mail.nih.gov
Francisco X RealSenior Group Leader, CNIO, Madrid; Professor of Cell Biology, Universitat Pompeu Fabra, BarcelonaCorreu electrònic verificat a cnio.es
Tõnu EskoUniversity of TartuCorreu electrònic verificat a ut.ee
Alfonso ValenciaICREA Professor. Barcelona Supercomputing Center.Correu electrònic verificat a bsc.es
Mikko FrilanderGroup leader/Research Director, Institute of Biotechnology, University of HelsinkiCorreu electrònic verificat a helsinki.fi
Scherer, Stephen W.The Hospital for Sick Children, Genetics and Genome Biology Program, University of TorontoCorreu electrònic verificat a sickkids.ca
Jozef GeczThe University of AdelaideCorreu electrònic verificat a adelaide.edu.au
Valverde OlgaFull Professor. Department of Medicine and Life Sciences. Universitat Pompeu Fabra.Correu electrònic verificat a upf.edu
Kevin B JacobsDELFI DiagnosticsCorreu electrònic verificat a bioinformed.com
Andres MetspaluUniversity of TartuCorreu electrònic verificat a ut.ee
FRANCISCO JOSE MUÑOZ LOPEZCorreu electrònic verificat a upf.edu
Joris VeltmanInstitute of Genetics & Cancer, University of Edinburgh, United KingdomCorreu electrònic verificat a ed.ac.uk

Segueix

LUIS ALBERTO PÉREZ JURADO

Prof. of Genetics, Universitat Pompeu Fabra, Head, Genetics Service, Hosp del Mar - IMIM

Correu electrònic verificat a upf.edu

Human and medical genetics


Títol Ordena per cites Ordena per any Ordena per títol	Citada per Citada per	Any
Detectable clonal mosaicism and its relationship to aging and cancer KB Jacobs, M Yeager, W Zhou, S Wacholder, Z Wang, ... Nature genetics 44 (6), 651-658, 2012	688	2012
A DNA methylation fingerprint of 1628 human samples AF Fernandez, Y Assenov, JI Martin-Subero, B Balint, R Siebert, ... Genome research 22 (2), 407-419, 2012	494	2012
Mutational mechanisms of Williams-Beuren syndrome deletions M Bayés, LF Magano, N Rivera, R Flores, LAP Jurado The American Journal of Human Genetics 73 (1), 131-151, 2003	465	2003
Severe expressive-language delay related to duplication of the Williams–Beuren locus MJ Somerville, CB Mervis, EJ Young, EJ Seo, M Del Campo, S Bamforth, ... New England Journal of Medicine 353 (16), 1694-1701, 2005	374	2005
Extending the phenotype of recurrent rearrangements of 16p11. 2: deletions in mentally retarded patients without autism and in normal individuals EK Bijlsma, ACJ Gijsbers, JHM Schuurs-Hoeijmakers, A Van Haeringen, ... European journal of medical genetics 52 (2-3), 77-87, 2009	327	2009
Further delineation of the 15q13 microdeletion and duplication syndromes: a clinical spectrum varying from non-pathogenic to a severe outcome BWM Van Bon, HC Mefford, B Menten, DA Koolen, AJ Sharp, ... Journal of medical genetics 46 (8), 511-523, 2009	319	2009
Molecular definition of the chromosome 7 deletion in Williams syndrome and parent-of-origin effects on growth LAP Jurado, R Peoples, P Kaplan, BC Hamel, U Francke American journal of human genetics 59 (4), 781, 1996	315	1996
C offin–S iris syndrome and the BAF complex: genotype–phenotype study in 63 patients GWE Santen, E Aten, AT Vulto‐van Silfhout, C Pottinger, BWM van Bon, ... Human mutation 34 (11), 1519-1528, 2013	247	2013
A physical map, including a BAC/PAC clone contig, of the Williams-Beuren syndrome–deletion region at 7q11. 23 R Peoples, Y Franke, YK Wang, L Pérez-Jurado, T Paperna, M Cisco, ... The American Journal of Human Genetics 66 (1), 47-68, 2000	232	2000
Cloning of MITF, the human homolog of the mouse microphthalmia gene and assignment to chromosome 3p14. 1-p12.3 M Tachibana, LA Perez-Jurado, A Nakayama, CA Hodgkinson, X Li, ... Human molecular genetics 3 (4), 553-557, 1994	230	1994
A duplicated gene in the breakpoint regions of the 7q11. 23 Williams-Beuren syndrome deletion encodes the initiator binding protein TFII-I and BAP-135, a phosphorylation target … LAP Jurado, YK Wang, R Peoples, A Coloma, J Cruces, U Francke Human molecular genetics 7 (3), 325-334, 1998	226	1998
A novel human homologue of the Drosophila frizzled wnt receptor gene binds wingless protein and is in the Williams syndrome deletion at 7q11.23 YK Wang, CH Samos, R Peoples, LA Pérez-Jurado, R Nusse, U Francke Human molecular genetics 6 (3), 465-472, 1997	207	1997
Mosaic loss of chromosome Y is associated with common variation near TCL1A W Zhou, MJ Machiela, ND Freedman, N Rothman, N Malats, C Dagnall, ... Nature genetics 48 (5), 563-568, 2016	189	2016
Mutations in pregnancy‐associated plasma protein A2 cause short stature due to low IGF‐I availability A Dauber, MT Muñoz‐Calvo, V Barrios, HM Domené, S Kloverpris, ... EMBO molecular medicine 8 (4), 363-374, 2016	183	2016
Large-scale targeted sequencing identifies risk genes for neurodevelopmental disorders T Wang, K Hoekzema, D Vecchio, H Wu, A Sulovari, BP Coe, ... Nature communications 11 (1), 4932, 2020	182	2020
Partial 7q11. 23 deletions further implicate GTF2I and GTF2IRD1 as the main genes responsible for the Williams–Beuren syndrome neurocognitive profile A Antonell, M Del Campo, LF Magano, L Kaufmann, JM De La Iglesia, ... Journal of medical genetics 47 (5), 312-320, 2010	173	2010
STAG3, a novel gene encoding a protein involved in meiotic chromosome pairing and location of STAG3‐related genes flanking the Williams‐Beuren syndrome … N Pezzi, I Prieto, L Kremer, LAP Jurado, C Valero, J Del Mazo, ... The FASEB Journal 14 (3), 581-592, 2000	172	2000
Diverse growth hormone receptor gene mutations in Laron syndrome MA Berg, J Argente, S Chernausek, R Gracia, J Guevara-Aguirre, M Hopp, ... American journal of human genetics 52 (5), 998, 1993	160	1993
Integrated analysis of whole-exome sequencing and transcriptome profiling in males with autism spectrum disorders M Codina-Solà, B Rodríguez-Santiago, A Homs, J Santoyo, M Rigau, ... Molecular autism 6, 1-16, 2015	150	2015
Identification of a human homolog of the Drosophila rotated abdomen gene (POMT1) encoding a putative protein O-mannosyl-transferase, and assignment to human chromosome 9q34. 1 LAP Jurado, A Coloma, J Cruces Genomics 58 (2), 171-180, 1999	145	1999

En aquests moments el sistema no pot dur a terme l'operació. Torneu-ho a provar més tard.

Articles 1–20

Cites per any

Cites duplicades

Cites combinades

Addició de coautorsCoautors

Segueix

Citada per

Coautors