Carmen Ayuso

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Citazioni	17164	7085
Indice H	70	43
i10-index	278	198

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Marta Corton (ORCID 0000-0003-008...Researcher IIS-Fundacion Jimenez Diaz, Madrid, SpainEmail verificata su fjd.es
Elena VallespinINGEMM - Hospital Universitario La PazEmail verificata su salud.madrid.org
Chema Millan SalvadorInstituto de Investigación Sanitaria La FeEmail verificata su iislafe.es
Diana ValverdeUniversidad de VigoEmail verificata su uvigo.es
Pablo MinguezResearcher & Head of Bioinformatics Unit - IIS Fundación Jiménez Díaz (Madrid, Spain)Email verificata su quironsalud.es
Berta AlmogueraPostdoctoral Fellow, Center for Applied Genomics. The Children's Hospital of PhiladelphiaEmail verificata su email.chop.edu
Carlo RivoltaIOB and Dept. of Ophthalmology, University of Basel, Basel, SwitzerlandEmail verificata su iob.ch
M. Esther Gallardo PerezHead of Traslational Research with iPS Cells Group, Research Institute Hospital 12 de Octubre, i+12Email verificata su h12o.es
Farrar GJTrinity College DublinEmail verificata su tcd.ie
Rob CollinAssociate Professor, RadboudumcEmail verificata su radboudumc.nl
N Cuadrado CorralesFacultad de Medicina. Universidad Complutense de MadridEmail verificata su ucm.es
James LupskiBaylor College of MedicineEmail verificata su bcm.edu
MARTA GARCIA DIEZUC3M-CIEMAT-CIBERER-FJDEmail verificata su ing.uc3m.es
Paola BovolentaCentro Biologia Molecular Severo OchoaEmail verificata su cbm.csic.es
Santiago Rodriguez de CordobaCentro de Investigaciones Biologicas Margarita Salas (CSIC)Email verificata su cib.csic.es
Carla Fuster GarcíaInstitute for Transfusion Medicine and Gene Therapy (The University Medical Center Freiburg)Email verificata su uniklinik-freiburg.de
Christian GilissenRadboud university medical centerEmail verificata su radboudumc.nl
Yajing (Angela) XieColumbia UniversityEmail verificata su cumc.columbia.edu
Dominique BonneauProfesseur de Génétique Médicale, Université d'AngersEmail verificata su chu-angers.fr
Hakon HakonarsonDirector, Center for Applied Genomics, CHOP, UPENNEmail verificata su email.chop.edu

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Carmen Ayuso

Jefe de Servicio de Genetica Hospital Universitario Fundacion Jimenez Diaz

Email verificata su fjd.es

genetica/genomica humana oftalmologia enfermedades raras bioetica ensayos clinicos


Titolo Ordina per citazioni Ordina per anno Ordina per titolo	Citata da Citata da	Anno
OPA1 mutations induce mitochondrial DNA instability and optic atrophy ‘plus’ phenotypes P Amati-Bonneau, ML Valentino, P Reynier, ME Gallardo, B Bornstein, ... Brain 131 (2), 338-351, 2008	578	2008
Highly conserved non-coding elements on either side of SOX9 associated with Pierre Robin sequence S Benko, JA Fantes, J Amiel, DJ Kleinjan, S Thomas, J Ramsay, ... Nature genetics 41 (3), 359-364, 2009	490	2009
Retinitis pigmentosa caused by a homozygous mutation in the Stargardt disease gene ABCR A Martínez Mir, E Paloma, R Allikmets, C Ayuso, T Río, M Dean, ... Nature Publishing Group, 1998	480	1998
Mutation of a gene encoding a protein with extracellular matrix motifs in Usher syndrome type IIa JD Eudy, MD Weston, SF Yao, DM Hoover, HL Rehm, M Ma-Edmonds, ... Science 280 (5370), 1753-1757, 1998	469	1998
CAG repeat expansion in Huntington disease determines age at onset in a fully dominant fashion JM Lee, EM Ramos, JH Lee, T Gillis, JS Mysore, MR Hayden, SC Warby, ... Neurology 78 (10), 690-695, 2012	445	2012
CDH23 mutation and phenotype heterogeneity: a profile of 107 diverse families with Usher syndrome and nonsyndromic deafness LM Astuto, JM Bork, MD Weston, JW Askew, RR Fields, DJ Orten, ... The American Journal of Human Genetics 71 (2), 262-275, 2002	258	2002
Next-generation sequencing of a 40 Mb linkage interval reveals TSPAN12 mutations in patients with familial exudative vitreoretinopathy K Nikopoulos, C Gilissen, A Hoischen, CE van Nouhuys, FN Boonstra, ... The American Journal of Human Genetics 86 (2), 240-247, 2010	250	2010
An update on the genetics of usher syndrome JM Millán, E Aller, T Jaijo, F Blanco-Kelly, A Gimenez-Pardo, C Ayuso Journal of ophthalmology 2011 (1), 417217, 2011	248	2011
Prenatal detection of a cystic fibrosis mutation in fetal DNA from maternal plasma MC Gonzalez‐Gonzalez, M Garcia‐Hoyos, MJ Trujillo, ... Prenatal diagnosis 22 (10), 946-948, 2002	224	2002
Identification of an IMPDH1 mutation in autosomal dominant retinitis pigmentosa (RP10) revealed following comparative microarray analysis of transcripts derived from retinas of … A Kennan, A Aherne, A Palfi, M Humphries, A McKee, A Stitt, ... Human molecular genetics 11 (5), 547-558, 2002	215	2002
AHI1 is required for photoreceptor outer segment development and is a modifier for retinal degeneration in nephronophthisis CM Louie, G Caridi, VS Lopes, F Brancati, A Kispert, MA Lancaster, ... Nature genetics 42 (2), 175-180, 2010	211	2010
OPA1 R445H mutation in optic atrophy associated with sensorineural deafness P Amati‐Bonneau, A Guichet, A Olichon, A Chevrollier, F Viala, S Miot, ... Annals of Neurology: Official Journal of the American Neurological …, 2005	200	2005
Genomic cloning and characterization of the human homeobox gene SIX6 reveals a cluster of SIX genes in chromosome 14 and associates SIX6 hemizygosity with bilateral … ME Gallardo, J Lopez-Rios, I Fernaud-Espinosa, B Granadino, R Sanz, ... Genomics 61 (1), 82-91, 1999	189	1999
Molecular screening of 980 cases of suspected hereditary optic neuropathy with a report on 77 novel OPA1 mutations M Ferré, D Bonneau, D Milea, A Chevrollier, C Verny, H Dollfus, C Ayuso, ... Human mutation 30 (7), E692-E705, 2009	181	2009
Overview of the mutation spectrum in familial exudative vitreoretinopathy and Norrie disease with identification of 21 novel variants in FZD4, LRP5, and NDP K Nikopoulos, H Venselaar, RWJ Collin, R Riveiro‐Alvarez, FN Boonstra, ... Human mutation 31 (6), 656-666, 2010	180	2010
Retinitis pigmentosa and allied conditions today: a paradigm of translational research C Ayuso, JM Millan Genome medicine 2, 1-11, 2010	162	2010
Analysis of the ABCA4 genomic locus in Stargardt disease J Zernant, Y Xie, C Ayuso, R Riveiro-Alvarez, MA Lopez-Martinez, ... Human molecular genetics 23 (25), 6797-6806, 2014	155	2014
Huntington disease–unaffected fetus diagnosed from maternal plasma using QF‐PCR MC Gonzalez‐Gonzalez, MJ Trujillo, M Rodriguez de Alba, ... Prenatal Diagnosis: Published in Affiliation With the International Society …, 2003	149	2003
A missense mutation in PRPF6 causes impairment of pre-mRNA splicing and autosomal-dominant retinitis pigmentosa G Tanackovic, A Ransijn, C Ayuso, S Harper, EL Berson, C Rivolta The American Journal of Human Genetics 88 (5), 643-649, 2011	145	2011
Informed consent for whole-genome sequencing studies in the clinical setting. Proposed recommendations on essential content and process C Ayuso, JM Millán, M Mancheno, R Dal-Ré European Journal of Human Genetics 21 (10), 1054-1059, 2013	141	2013

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