Deep-intronic ABCA4 variants explain missing heritability in Stargardt disease and allow correction of splice defects by antisense oligonucleotides

Riccardo Sangermano, Alejandro Garanto, Mubeen Khan, Esmee H. Runhart, Miriam Bauwens, Nathalie M. Bax, L. Ingeborgh van den Born, Muhammad Imran Khan, Stéphanie S. Cornelis, Joke B.G.M. Verheij, Jan-Willem R. Pott, Alberta A.H.J. Thiadens, Caroline C.W. Klaver, Bernard Puech, Isabelle Meunier, Sarah Naessens, Gavin Arno, Ana Fakin, Keren J. Carss, F. Lucy Raymond, Andrew R. Webster, Claire-Marie Dhaenens, Heidi Stöhr, Felix Grassmann, Bernhard H.F. Weber, Carel B. Hoyng, Elfride De Baere, Silvia Albert, Rob W.J. Collin, Frans P.M. Cremers

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DOI: 10.1038/s41436-018-0414-9
Published: 2019-08
Container: Genetics in Medicine
Publisher: Elsevier BV
Open access: unknown

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Cite this work

BibTeX

@article{allodium:10.1038/s41436-018-0414-9,
  title = {Deep-intronic ABCA4 variants explain missing heritability in Stargardt disease and allow correction of splice defects by antisense oligonucleotides},
  author = {Riccardo Sangermano and Alejandro Garanto and Mubeen Khan and Esmee H. Runhart and Miriam Bauwens and Nathalie M. Bax and L. Ingeborgh van den Born and Muhammad Imran Khan and Stéphanie S. Cornelis and Joke B.G.M. Verheij and Jan-Willem R. Pott and Alberta A.H.J. Thiadens and Caroline C.W. Klaver and Bernard Puech and Isabelle Meunier and Sarah Naessens and Gavin Arno and Ana Fakin and Keren J. Carss and F. Lucy Raymond and Andrew R. Webster and Claire-Marie Dhaenens and Heidi Stöhr and Felix Grassmann and Bernhard H.F. Weber and Carel B. Hoyng and Elfride De Baere and Silvia Albert and Rob W.J. Collin and Frans P.M. Cremers},
  year = {2019},
  journal = {Genetics in Medicine},
  doi = {10.1038/s41436-018-0414-9},
  url = {https://doi.org/10.1038/s41436-018-0414-9}
}

RIS

TY  - JOUR
TI  - Deep-intronic ABCA4 variants explain missing heritability in Stargardt disease and allow correction of splice defects by antisense oligonucleotides
AU  - Riccardo Sangermano
AU  - Alejandro Garanto
AU  - Mubeen Khan
AU  - Esmee H. Runhart
AU  - Miriam Bauwens
AU  - Nathalie M. Bax
AU  - L. Ingeborgh van den Born
AU  - Muhammad Imran Khan
AU  - Stéphanie S. Cornelis
AU  - Joke B.G.M. Verheij
AU  - Jan-Willem R. Pott
AU  - Alberta A.H.J. Thiadens
AU  - Caroline C.W. Klaver
AU  - Bernard Puech
AU  - Isabelle Meunier
AU  - Sarah Naessens
AU  - Gavin Arno
AU  - Ana Fakin
AU  - Keren J. Carss
AU  - F. Lucy Raymond
AU  - Andrew R. Webster
AU  - Claire-Marie Dhaenens
AU  - Heidi Stöhr
AU  - Felix Grassmann
AU  - Bernhard H.F. Weber
AU  - Carel B. Hoyng
AU  - Elfride De Baere
AU  - Silvia Albert
AU  - Rob W.J. Collin
AU  - Frans P.M. Cremers
PY  - 2019
JO  - Genetics in Medicine
DO  - 10.1038/s41436-018-0414-9
UR  - https://doi.org/10.1038/s41436-018-0414-9
ER  -

APA

Sangermano, R., Garanto, A., Khan, M., Runhart, E. H., Bauwens, M., Bax, N. M., Born, L. I. V. D., Khan, M. I., Cornelis, S. S., Verheij, J. B., Pott, J. R., Thiadens, A. A., Klaver, C. C., Puech, B., Meunier, I., Naessens, S., Arno, G., Fakin, A., Carss, K. J., Raymond, F. L., Webster, A. R., Dhaenens, C., Stöhr, H., Grassmann, F., Weber, B. H., Hoyng, C. B., Baere, E. D., Albert, S., Collin, R. W., & Cremers, F. P. (2019). Deep-intronic ABCA4 variants explain missing heritability in Stargardt disease and allow correction of splice defects by antisense oligonucleotides. Genetics in Medicine. https://doi.org/10.1038/s41436-018-0414-9

Source records

crossref · retrieved 2026-09-25T20:49:27.328Z