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Silvia Albert
Silvia Albert
RadboudUMC
Verified email at radboudumc.nl
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Cited by
Year
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
1712018
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
1672019
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
1612018
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
1302019
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
1262018
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
1212016
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
822021
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
762020
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
612020
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
472012
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
412016
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
392022
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
362010
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
312019
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
292015
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
132019
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
92017
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
52020
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
42022
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
42022
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