| 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 | 588 | 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 | 497 | 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 | 472 | 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 | 454 | 2012 |
| 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 | 258 | 2011 |
| 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 | 252 | 2010 |
| 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 | 219 | 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 | 214 | 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 | 203 | 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 | 188 | 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 | 183 | 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 | 182 | 2010 |
| Retinitis pigmentosa and allied conditions today: a paradigm of translational research C Ayuso, JM Millan Genome medicine 2, 1-11, 2010 | 160 | 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 |
| 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 | 147 | 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 | 146 | 2013 |
| 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 | 146 | 2003 |
Marta Corton (ORCID 0000-0003-008...Researcher IIS-Fundacion Jimenez Diaz, Madrid, Spainfjd.es의 이메일 확인됨
