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| Deep-intronic ABCA4 variants explain missing heritability in Stargardt disease and allow correction of splice defects by antisense oligonucleotides R Sangermano, A Garanto, M Khan, EH Runhart, M Bauwens, NM Bax, ... Genetics in Medicine 21 (8), 1751-1760, 2019 | 169 | 2019 |
| Genetic basis of inherited retinal disease in a molecularly characterized cohort of more than 3000 families from the United Kingdom N Pontikos, G Arno, N Jurkute, E Schiff, R Ba-Abbad, S Malka, A Gimenez, ... Ophthalmology 127 (10), 1384-1394, 2020 | 150 | 2020 |
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| Aortic Disease Presentation and Outcome Associated With ACTA2 Mutations ES Regalado, D Guo, S Prakash, TA Bensend, K Flynn, A Estrera, H Safi, ... Circulation: Cardiovascular Genetics 8 (3), 457-464, 2015 | 145 | 2015 |
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| Mutations in REEP6 cause autosomal-recessive retinitis pigmentosa G Arno, SA Agrawal, A Eblimit, J Bellingham, M Xu, F Wang, C Chakarova, ... The American Journal of Human Genetics 99 (6), 1305-1315, 2016 | 129 | 2016 |
| In-frame mutations in exon 1 of SKI cause dominant Shprintzen-Goldberg syndrome V Carmignac, J Thevenon, L Adès, B Callewaert, S Julia, ... The American Journal of Human Genetics 91 (5), 950-957, 2012 | 129 | 2012 |
| The Spectrum of PAX6 Mutations and Genotype-Phenotype Correlations in the Eye D Lima Cunha, G Arno, M Corton, M Moosajee Genes 10 (12), 1050, 2019 | 128 | 2019 |
| Phenotypic Characterization of EIF2AK4 Mutation Carriers in a Large Cohort of Patients Diagnosed Clinically With Pulmonary Arterial Hypertension C Hadinnapola, M Bleda, M Haimel, N Screaton, A Swift, P Dorfmüller, ... Circulation 136 (21), 2022-2033, 2017 | 124 | 2017 |
| Neuropathy target esterase impairments cause Oliver–McFarlane and Laurence–Moon syndromes RB Hufnagel, G Arno, ND Hein, J Hersheson, M Prasad, Y Anderson, ... Journal of medical genetics 52 (2), 85-94, 2015 | 117 | 2015 |
| The importance of mutation detection in Marfan syndrome and Marfan‐related disorders: report of 193 FBN1 mutations P Comeglio, P Johnson, G Arno, G Brice, A Evans, J Aragon‐Martin, ... Human mutation 28 (9), 928-928, 2007 | 117 | 2007 |
| The X-linked retinopathies: physiological insights, pathogenic mechanisms, phenotypic features and novel therapies SR De Silva, G Arno, AG Robson, A Fakin, N Pontikos, MD Mohamed, ... Progress in retinal and eye research 82, 100898, 2021 | 92 | 2021 |
| Biallelic variants in TTLL5, encoding a tubulin glutamylase, cause retinal dystrophy PI Sergouniotis, C Chakarova, C Murphy, M Becker, E Lenassi, G Arno, ... The American Journal of Human Genetics 94 (5), 760-769, 2014 | 87 | 2014 |
| Structural variants create new topological-associated domains and ectopic retinal enhancer-gene contact in dominant retinitis pigmentosa SE de Bruijn, A Fiorentino, D Ottaviani, S Fanucchi, US Melo, ... The American Journal of Human Genetics 107 (5), 802-814, 2020 | 76 | 2020 |
| Mutations in the spliceosome component CWC27 cause retinal degeneration with or without additional developmental anomalies M Xu, YA Xie, H Abouzeid, CT Gordon, A Fiorentino, Z Sun, A Lehman, ... The American Journal of Human Genetics 100 (4), 592-604, 2017 | 70 | 2017 |
| The phenotypic variability of retinal dystrophies associated with mutations in CRX, with report of a novel macular dystrophy phenotype S Hull, G Arno, V Plagnol, S Chamney, I Russell-Eggitt, D Thompson, ... Investigative ophthalmology & visual science 55 (10), 6934-6944, 2014 | 69 | 2014 |
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