| Genomic analysis of hospital plumbing reveals diverse reservoir of bacterial plasmids conferring carbapenem resistance RA Weingarten, RC Johnson, S Conlan, AM Ramsburg, JP Dekker, ... MBio 9 (1), 10.1128/mbio. 02011-17, 2018 | 175 | 2018 |
| 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 | 174 | 2019 |
| ABCA4 midigenes reveal the full splice spectrum of all reported noncanonical splice site variants in Stargardt disease R Sangermano, M Khan, SS Cornelis, V Richelle, S Albert, A Garanto, ... Genome research 28 (1), 100-110, 2018 | 165 | 2018 |
| Intein-mediated protein trans-splicing expands adeno-associated virus transfer capacity in the retina P Tornabene, I Trapani, R Minopoli, M Centrulo, M Lupo, S de Simone, ... Science translational medicine 11 (492), eaav4523, 2019 | 137 | 2019 |
| Identification and rescue of splice defects caused by two neighboring deep-intronic ABCA4 mutations underlying Stargardt disease S Albert, A Garanto, R Sangermano, M Khan, NM Bax, CB Hoyng, ... The American Journal of Human Genetics 102 (4), 517-527, 2018 | 130 | 2018 |
| Photoreceptor progenitor mRNA analysis reveals exon skipping resulting from the ABCA4 c. 5461-10T→ C mutation in Stargardt disease R Sangermano, NM Bax, M Bauwens, LI Van den Born, E De Baere, ... Ophthalmology 123 (6), 1375-1385, 2016 | 124 | 2016 |
| Antisense oligonucleotide-based treatment of retinitis pigmentosa caused by USH2A exon 13 mutations K Dulla, R Slijkerman, HC van Diepen, S Albert, M Dona, W Beumer, ... Molecular Therapy 29 (8), 2441-2455, 2021 | 89 | 2021 |
| 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 | 81 | 2020 |
| Detailed phenotyping and therapeutic strategies for intronic ABCA4 variants in Stargardt disease M Khan, G Arno, A Fakin, DA Parfitt, PPA Dhooge, S Albert, NM Bax, ... Molecular Therapy-Nucleic Acids 21, 412-427, 2020 | 64 | 2020 |
| Comparative marker analysis after isolation and culture of testicular cells from the immature marmoset S Albert, J Wistuba, K Eildermann, J Ehmcke, S Schlatt, J Gromoll, ... Cells Tissues Organs 196 (6), 543-554, 2012 | 47 | 2012 |
| Functional coupling of TRPM2 and extrasynaptic NMDARs exacerbates excitotoxicity in ischemic brain injury P Zong, J Feng, Z Yue, Y Li, G Wu, B Sun, Y He, B Miller, SY Albert, Z Su, ... Neuron 110 (12), 1944-1958. e8, 2022 | 44 | 2022 |
| Comparative study of human embryonic stem cells (hESC) and human induced pluripotent stem cells (hiPSC) as a treatment for retinal dystrophies M Riera, L Fontrodona, S Albert, DM Ramirez, A Seriola, A Salas, Y Muoz, ... Molecular Therapy Methods & Clinical Development 3, 2016 | 42 | 2016 |
| Germ cell dynamics in the testis of the postnatal common marmoset monkey (Callithrix jacchus) S Albert, J Ehmcke, J Wistuba, K Eildermann, R Behr, S Schlatt, J Gromoll Reproduction 140 (5), 733, 2010 | 38 | 2010 |
| Late-onset Stargardt disease due to mild, deep-intronic ABCA4 alleles EH Runhart, D Valkenburg, SS Cornelis, M Khan, R Sangermano, ... Investigative ophthalmology & visual science 60 (13), 4249-4256, 2019 | 36 | 2019 |
| Efficient delivery and functional expression of transfected modified mRNA in human embryonic stem cell-derived retinal pigmented epithelial cells ML Hansson, S Albert, LG Somermeyer, R Peco, E Mejía-Ramírez, ... Journal of Biological Chemistry 290 (9), 5661-5672, 2015 | 29 | 2015 |
| QR-421a, an antisense oligonucleotide, for the treatment of retinitis pigmentosa due to USH2A exon 13 mutations H van Diepen, K Dulla, HL Chan, I Schulkens, W Beumer, L Vorthoren, ... Investigative Ophthalmology & Visual Science 60 (9), 3250-3250, 2019 | 13 | 2019 |
| Regulation of Orai/STIM channels by pH SY Albert, Z Yue, J Feng, L Yue Calcium entry channels in non-excitable cells, 161-176, 2017 | 9 | 2017 |
| Antisense oligonucleotide-based treatment of retinitis pigmentosa caused by mutations in USH2A exon 13 R Slijkerman, H van Diepen, S Albert, M Dona, H Venselaar, J Zang, ... bioRxiv, 2020.10. 06.320499, 2020 | 5 | 2020 |
| Generation of a patient-derived induced pluripotent cell line (SCTCi016-A) carrying a homozygous variant in RPE65 I Vázquez-Domínguez, M Kwint, HY Kroes, S Albert, L O'Gorman, ... Stem cell research 60, 102689, 2022 | 4 | 2022 |
| Generation and characterization of human induced pluripotent stem cells (iPSCs) from three patients with age-related macular degeneration carrying rare variants in the CFH gene L Koolen, G Gagliardi, SCA Ten Brink, A de Breuk, TJ Heesterbeek, ... Stem Cell Research 60, 102669, 2022 | 4 | 2022 |
Alejandro Garanto (ORCID: 0000-000...Department of Pediatrics & Department of Human Genetics, Radboudumc & Radboud Institute for在 radboudumc.nl 的电子邮件经过验证
