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

R Sangermano; A Garanto; MA Khan; EH Runhart; M Bauwens; NMA Bax; LI van den Born; MI Khan; SS Cornelis; J Verheij; JWR Pott; Alberta Thiadens; Caroline Klaver; B Puech; I Meunier; S Naessens; G Arno; A Fakin; KJ Carss; FL Raymond; AR Webster; CM Dhaenens; H Stohr; F Grassmann; BHF Weber; CB Hoyng; E De Baere; S Albert; RWJ Collin; FPM Cremers

doi:10.1038/s41436-018-0414-9

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

R Sangermano, A Garanto, MA Khan, EH Runhart, M Bauwens, NMA Bax, LI van den Born, MI Khan, SS Cornelis, J Verheij, JWR Pott, Alberta Thiadens, Caroline Klaver, B Puech, I Meunier, S Naessens, G Arno, A Fakin, KJ Carss, FL RaymondAR Webster, CM Dhaenens, H Stohr, F Grassmann, BHF Weber, CB Hoyng, E De Baere, S Albert, RWJ Collin, FPM Cremers

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Original language	Undefined/Unknown
Pages (from-to)	1751-1760
Number of pages	10
Journal	Genetics in Medicine
Volume	21
Issue number	8
DOIs	https://doi.org/10.1038/s41436-018-0414-9
Publication status	Published - 2019

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Cite this

Sangermano, R., Garanto, A., Khan, MA., Runhart, EH., Bauwens, M., Bax, NMA., van den Born, LI., Khan, MI., Cornelis, SS., Verheij, J., Pott, JWR., Thiadens, A., Klaver, C., Puech, B., Meunier, I., Naessens, S., Arno, G., Fakin, A., Carss, KJ., ... Cremers, FPM. (2019). Deep-intronic ABCA4 variants explain missing heritability in Stargardt disease and allow correction of splice defects by antisense oligonucleotides. Genetics in Medicine, 21(8), 1751-1760. https://doi.org/10.1038/s41436-018-0414-9

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

author = "R Sangermano and A Garanto and MA Khan and EH Runhart and M Bauwens and NMA Bax and {van den Born}, LI and MI Khan and SS Cornelis and J Verheij and JWR Pott and Alberta Thiadens and Caroline Klaver and B Puech and I Meunier and S Naessens and G Arno and A Fakin and KJ Carss and FL Raymond and AR Webster and CM Dhaenens and H Stohr and F Grassmann and BHF Weber and CB Hoyng and {De Baere}, E and S Albert and RWJ Collin and FPM Cremers",

year = "2019",

doi = "10.1038/s41436-018-0414-9",

language = "Undefined/Unknown",

volume = "21",

pages = "1751--1760",

journal = "Genetics in Medicine",

issn = "1098-3600",

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Sangermano, R, Garanto, A, Khan, MA, Runhart, EH, Bauwens, M, Bax, NMA, van den Born, LI, Khan, MI, Cornelis, SS, Verheij, J, Pott, JWR, Thiadens, A , Klaver, C, Puech, B, Meunier, I, Naessens, S, Arno, G, Fakin, A, Carss, KJ, Raymond, FL, Webster, AR, Dhaenens, CM, Stohr, H, Grassmann, F, Weber, BHF, Hoyng, CB, De Baere, E, Albert, S, Collin, RWJ & Cremers, FPM 2019, 'Deep-intronic ABCA4 variants explain missing heritability in Stargardt disease and allow correction of splice defects by antisense oligonucleotides', Genetics in Medicine, vol. 21, no. 8, pp. 1751-1760. https://doi.org/10.1038/s41436-018-0414-9

TY - JOUR

T1 - Deep-intronic ABCA4 variants explain missing heritability in Stargardt disease and allow correction of splice defects by antisense oligonucleotides

AU - Sangermano, R

AU - Garanto, A

AU - Khan, MA

AU - Runhart, EH

AU - Bauwens, M

AU - Bax, NMA

AU - van den Born, LI

AU - Khan, MI

AU - Cornelis, SS

AU - Verheij, J

AU - Pott, JWR

AU - Thiadens, Alberta

AU - Klaver, Caroline

AU - Puech, B

AU - Meunier, I

AU - Naessens, S

AU - Arno, G

AU - Fakin, A

AU - Carss, KJ

AU - Raymond, FL

AU - Webster, AR

AU - Dhaenens, CM

AU - Stohr, H

AU - Grassmann, F

AU - Weber, BHF

AU - Hoyng, CB

AU - De Baere, E

AU - Albert, S

AU - Collin, RWJ

AU - Cremers, FPM

PY - 2019

Y1 - 2019

U2 - 10.1038/s41436-018-0414-9

DO - 10.1038/s41436-018-0414-9

M3 - Article

SN - 1098-3600

VL - 21

SP - 1751

EP - 1760

JO - Genetics in Medicine

JF - Genetics in Medicine

IS - 8

ER -