2023
McClinton B, Crinnion LA, McKibbin M, Mukherjee R, Poulter JA, Smith CEL, Ali M, Watson CM, Inglehearn CF, Toomes C. Targeted nanopore sequencing enables complete characterization of structural deletions initially identified using exon-based short-read sequencing strategies. Mol Genet Genomic Med. 2023 Mar 19:2164. doi:10.1002/mgg3.2164. Online ahead of print. PMID: 36934458.
Nuzhat N, Van Schil K, Liakopoulos S, Bauwens M, Dueñas Rey A, Käseberg S, J¨ger M, Willer JR, Winter J, Truong HM, Gruartmoner N, Van Heetvelde M, Wolf JC, Merget R, Grasshoff-Derr S, Van Dorpe J, Hoorens A, Stöhr H, Mansard L, Roux AF, Langmann T, Dannhausen K, Rosenkranz D, Wissing KM, Van Lint M, Rossman H, Häuser F, Nürnberg P, Thiele H, Zechner U, Pearring JN, De Baere E, Bolz HJ. CEP162 deficiency causes human retinal degeneration and reveals a dual role in ciliogenesis and neurogenesis. J Clin Invest. 2023 Mar 2:e161156. doi:10.1172/JCI161156. Online ahead of print. PMID: 36862503.
Kaltak M, de Bruijn P, Piccolo D, Lee SE, Dulla K, Hoogenboezem T, Beumer W, Webster AR, Collin RWJ, Cheetham ME, Platenburg G, Swildens J. Antisense oligonucleotide therapy corrects splicing in the common Stargardt disease type 1-causing variant ABCA4 c.5461-10T>C. Mol Ther Nucleic Acids. 2023 Feb 18;31:674-688. doi:10.1016/j.omtn.2023.02.020. eCollection 2023 Mar 14. PMID: 36910710.
Mc Clinton B, Corradi Z, McKibbin M, Panneman DM, Roosing S, Boonen EGM, Ali M, Watson CM, Steel DH, Cremers FPM, Inglehearn CF, Hitti-Malin RJ, Toomes C. Effective smMIPS-Based Sequencing of Maculopathy-Associated Genes in Stargardt Disease Cases and Allied Maculopathies from the UK. Genes. 2023 Jan 11. doi:10.3390/genes14010191. PMID: 36672932.
Nuzhat N, Van Schil K, Liakopoulos S, Bauwens M, Dueñas Rey A, Käseberg S, J¨ger M, Willer JR, Winter J, Truong HM, Gruartmoner N, Van Heetvelde M, Wolf JC, Merget R, Grasshoff-Derr S, Van Dorpe J, Hoorens A, Stöhr H, Mansard L, Roux AF, Langmann T, Dannhausen K, Rosenkranz D, Wissing KM, Van Lint M, Rossman H, Häuser F, Nürnberg P, Thiele H, Zechner U, Pearring JN, De Baere E, Bolz HJ. CEP162 deficiency causes human retinal degeneration and reveals a dual role in ciliogenesis and neurogenesis. J Clin Invest. 2023 Mar 2:e161156. doi:10.1172/JCI161156. Online ahead of print. PMID: 36862503.
Kaltak M, de Bruijn P, Piccolo D, Lee SE, Dulla K, Hoogenboezem T, Beumer W, Webster AR, Collin RWJ, Cheetham ME, Platenburg G, Swildens J. Antisense oligonucleotide therapy corrects splicing in the common Stargardt disease type 1-causing variant ABCA4 c.5461-10T>C. Mol Ther Nucleic Acids. 2023 Feb 18;31:674-688. doi:10.1016/j.omtn.2023.02.020. eCollection 2023 Mar 14. PMID: 36910710.
Mc Clinton B, Corradi Z, McKibbin M, Panneman DM, Roosing S, Boonen EGM, Ali M, Watson CM, Steel DH, Cremers FPM, Inglehearn CF, Hitti-Malin RJ, Toomes C. Effective smMIPS-Based Sequencing of Maculopathy-Associated Genes in Stargardt Disease Cases and Allied Maculopathies from the UK. Genes. 2023 Jan 11. doi:10.3390/genes14010191. PMID: 36672932.
2022
Van de Sompele S, Small KW, Cicekdal MB, López Soriano V, D'haene E, Shaya FS, Agemy S, Van der Snickt T, Dueñas Rey A, Rosseel T, Van Heetvelde M, Vergult S, Balikova I, Bergen AA, Boon CJF, De Zaeytijd J, Inglehearn CF, Kousal B, Leroy BP, Rivolta C, Vaclavik V, van den Ende J, van Schooneveld MJ, Gómez-Skarmeta JL, Tena JJ, Martinez-Morales JR, Liskova P, Vleminckx K, De Baere E. Multi-omics profiling, in vitro and in vivo enhancer assays dissect the cis-regulatory mechanisms underlying North Carolina macular dystrophy, a retinal enhanceropathy. Am J Hum Genet. 2022 Oct 13. doi:10.1016/j.ajhg.2022.09.013. PMID: 36243009.
Watson A, Lako M. Retinal organoids provide unique insights intomolecular signatures of inherited retinal disease throughout retinogenesis. Journal of Anatomy. 2022 Sep 29. doi:10.1111/joa.13768. PMID: 36177499.
Suarez-Herrera N, Tomkiewicz TZ, Garanto A, Collin RWJ. Development and use of cellular systems to assess and correct splicing defects. Methods Mol Biol. 2022:2434:145-165. doi: 10.1007/978-1-0716-2010-6_9. PMID: 35213015.
Millington-Ward S, Chadderton N, Finnegan LK, Post IJM, Carrigan M, Gardiner T, Peixoto E, Maloney D, Humphries MM, Stitt A, Léveillard T, Humphries P, Kenna PF, Palfi A, Farrar GJ. AAV-mediated gene therapy improving mitochondrial function provides benefit in age-related macular degeneration models. Clin Transl Med. 2022 Aug 21. doi: 10.1002/ctm2.952. PMID: 35988157.
De Angeli P, Reuters P, Hauser S, Schöls L, Stingl K, Wissinger B, Kohl S. Effective splicing restoration of a deep-intronic ABCA4 variant in cone photoreceptor precursor cells by CRISPR/SpCas9 approaches. Mol Therapy Nuc Acids. 2022 Jul 31. doi: 10.1016/j.omtn.2022.07.23. PMID: 35991315.
Stingl K, Baumann B, De Angeli P, Vincent A, Héon E, Cordonnier M, De Baere E, Raskin S, Teruo SM, Shiokawa N, Kohl S, Wissinger B. Novel OPN1LW/OPN1MW exon 3 haplotype-associated splicing defect in patients with x-linked cone dysfunction. Int J Mol Sci. 2022 Jun 20:23(12):6868. doi:10.3390/ijms23126868. PMID: 35743313.
Nuzhat N, Van Schil K, Liakopoulos S, Bauwens M, Dueñas Rey A, Käseberg S, Jäger M, Willer JR, Winter J, Truong H, Guartmoner N, Van Heetvelde M, Wolf J, Merget R, Grasshoff-Derr S, Van Dorpe J, Hoorens A, Stöhr H, Mansard L, Roux A-F, Langmann T, Dannhausen K, Rosenkranz D, Wissing KM, Van Lint M, Rossmann H, Häuser F, Nürnberg P, Thiele H, Zechner U, Pearring JN, De Baere E, Bolz HJ. CEP162 deficiency causes human retinal degradation and reveals a dual role in ciliogenesis and neurogenesis. Biorvix. 2022 Apr 29. doi:10.1101/2021.11.23.469779.
Corradi Z, Salameh M, Khan M, Héon E, Mishra K, Hitti-Malin RJ, AlSwaiti Y, Aslanian A, Banin E, Brooks BP, Zein wM, Hufnagel RB, Roosing S, Dhaenens C-M, Sharon D, Cremers FPM, AlTalbishi A. ABCA4 c.859-25A>G, a frequent Palestinian founder mutation affecting the intron 7 branchpoint, is associated with early-onset Stargardt disease. Invest Ophtalmol Vis Sci. 2022 Apr 1:63(4):20. doi:10.1167/iovs.63.4.20. PMID: 35475888.
Palfi A, Chadderton N, Millington-Ward S, Post IJM, Humphries P, Kenna PF, Farrar GJ. AAV-PHP.eB transduces both the inner and outer retina with high efficacy in mice. Mol Ther Methods Clin Dev. 2022 Mar 28. doi: 10.1016/j.omtm.2022.03.016. PMID: 35474956.
Cornelis SS, Runhart EH, Bauwens M, Corradi Z, De Baere E, Roosing S, Haer-Wigman L, Dhaenens C-M, Vulto-van Silfhout AT, Cremers FPM. Personalized genetic counseling for Stargardt disease: Offspring risk estimates based on variant severity. Am J Hum Genet. 2022 Mar 3:109(3):498-507. doi:10.1016/j.ajhg.2022.01.008. Epub 2022 Feb 3. PMID: 35120629.
Watson A, Lako M. Retinal organoids provide unique insights intomolecular signatures of inherited retinal disease throughout retinogenesis. Journal of Anatomy. 2022 Sep 29. doi:10.1111/joa.13768. PMID: 36177499.
Suarez-Herrera N, Tomkiewicz TZ, Garanto A, Collin RWJ. Development and use of cellular systems to assess and correct splicing defects. Methods Mol Biol. 2022:2434:145-165. doi: 10.1007/978-1-0716-2010-6_9. PMID: 35213015.
Millington-Ward S, Chadderton N, Finnegan LK, Post IJM, Carrigan M, Gardiner T, Peixoto E, Maloney D, Humphries MM, Stitt A, Léveillard T, Humphries P, Kenna PF, Palfi A, Farrar GJ. AAV-mediated gene therapy improving mitochondrial function provides benefit in age-related macular degeneration models. Clin Transl Med. 2022 Aug 21. doi: 10.1002/ctm2.952. PMID: 35988157.
De Angeli P, Reuters P, Hauser S, Schöls L, Stingl K, Wissinger B, Kohl S. Effective splicing restoration of a deep-intronic ABCA4 variant in cone photoreceptor precursor cells by CRISPR/SpCas9 approaches. Mol Therapy Nuc Acids. 2022 Jul 31. doi: 10.1016/j.omtn.2022.07.23. PMID: 35991315.
Stingl K, Baumann B, De Angeli P, Vincent A, Héon E, Cordonnier M, De Baere E, Raskin S, Teruo SM, Shiokawa N, Kohl S, Wissinger B. Novel OPN1LW/OPN1MW exon 3 haplotype-associated splicing defect in patients with x-linked cone dysfunction. Int J Mol Sci. 2022 Jun 20:23(12):6868. doi:10.3390/ijms23126868. PMID: 35743313.
Nuzhat N, Van Schil K, Liakopoulos S, Bauwens M, Dueñas Rey A, Käseberg S, Jäger M, Willer JR, Winter J, Truong H, Guartmoner N, Van Heetvelde M, Wolf J, Merget R, Grasshoff-Derr S, Van Dorpe J, Hoorens A, Stöhr H, Mansard L, Roux A-F, Langmann T, Dannhausen K, Rosenkranz D, Wissing KM, Van Lint M, Rossmann H, Häuser F, Nürnberg P, Thiele H, Zechner U, Pearring JN, De Baere E, Bolz HJ. CEP162 deficiency causes human retinal degradation and reveals a dual role in ciliogenesis and neurogenesis. Biorvix. 2022 Apr 29. doi:10.1101/2021.11.23.469779.
Corradi Z, Salameh M, Khan M, Héon E, Mishra K, Hitti-Malin RJ, AlSwaiti Y, Aslanian A, Banin E, Brooks BP, Zein wM, Hufnagel RB, Roosing S, Dhaenens C-M, Sharon D, Cremers FPM, AlTalbishi A. ABCA4 c.859-25A>G, a frequent Palestinian founder mutation affecting the intron 7 branchpoint, is associated with early-onset Stargardt disease. Invest Ophtalmol Vis Sci. 2022 Apr 1:63(4):20. doi:10.1167/iovs.63.4.20. PMID: 35475888.
Palfi A, Chadderton N, Millington-Ward S, Post IJM, Humphries P, Kenna PF, Farrar GJ. AAV-PHP.eB transduces both the inner and outer retina with high efficacy in mice. Mol Ther Methods Clin Dev. 2022 Mar 28. doi: 10.1016/j.omtm.2022.03.016. PMID: 35474956.
Cornelis SS, Runhart EH, Bauwens M, Corradi Z, De Baere E, Roosing S, Haer-Wigman L, Dhaenens C-M, Vulto-van Silfhout AT, Cremers FPM. Personalized genetic counseling for Stargardt disease: Offspring risk estimates based on variant severity. Am J Hum Genet. 2022 Mar 3:109(3):498-507. doi:10.1016/j.ajhg.2022.01.008. Epub 2022 Feb 3. PMID: 35120629.
2021
Fadaie Z, Whelan L, Ben-Yosef T, Dockery A, Corradi Z, Gilissen C, Haer-Wigman L, Corominas J, Astuti GDN, de Rooij L, van den Born LI, Klaver CCW, Hoyng CB, Wynne N, Duignan ES, Kenna PF, Cremers FPM, Farrar G, Roosing S. Whole genome sequencing and invitro splice assays reveal genetic causes for inherited retinal diseases. NPJ Genom Med. 2021 nov 18;6(1):97. doi: 10.1038/s41525-021-00261-1. PMID: 34795310.
Tomkiewics TZ, Suárez-Herrera N, Cremers FPM, Collin RWJ, Garanto A. Antisense oligonucleotide-based rescue of aberrant splicing defects caused by 15 pathogenic variant in ABCA4. Int. J. Mol. Sci. 2021 April 28. 22(9):4621. doi: 10.3390/ijms22094621. PMID: 33924840
Cornelis SS, Runhart EH, Bauwens M, Corradi Z, De Baere E, Roosing S, Haer-Wigman L, Dhaenens C, Vulto-van Silfhout AT, Cremers FPM. Genetic risk estimates for offspring of patients with Stargardt disease. medRvix 2021 August 11 21261888. doi: 10.1101/2021.08.11.21261888.
Ascari G, Rendtorff ND, De Bruyne M, De Zaeytijd J, Van Lint M, Bauwens M, Van Heetvelde M, Arno G, Jacob J, Creytens D, Van Dorpe J, Van Laethem T, Rosseel T, De Pooter T, De Rijk P, De Coster W, Menten B, Dueñas Rey A, Strazisar M, Bertelsen M, Tranebjarg L, De Baere E. Long-read sequencing to unravel complex structural variants of CEP78 leading to Cone-Rod Dystrophy and Hearing Loss. Front. Cell Dev. Biol. 2021 April 21. 4;21:412-427. doi: 10.3389/fcell.2021.664317.
Tomkiewics TZ, Suárez-Herrera N, Cremers FPM, Collin RWJ, Garanto A. Antisense oligonucleotide-based rescue of aberrant splicing defects caused by 15 pathogenic variant in ABCA4. Int. J. Mol. Sci. 2021 April 28. 22(9):4621. doi: 10.3390/ijms22094621. PMID: 33924840
Cornelis SS, Runhart EH, Bauwens M, Corradi Z, De Baere E, Roosing S, Haer-Wigman L, Dhaenens C, Vulto-van Silfhout AT, Cremers FPM. Genetic risk estimates for offspring of patients with Stargardt disease. medRvix 2021 August 11 21261888. doi: 10.1101/2021.08.11.21261888.
Ascari G, Rendtorff ND, De Bruyne M, De Zaeytijd J, Van Lint M, Bauwens M, Van Heetvelde M, Arno G, Jacob J, Creytens D, Van Dorpe J, Van Laethem T, Rosseel T, De Pooter T, De Rijk P, De Coster W, Menten B, Dueñas Rey A, Strazisar M, Bertelsen M, Tranebjarg L, De Baere E. Long-read sequencing to unravel complex structural variants of CEP78 leading to Cone-Rod Dystrophy and Hearing Loss. Front. Cell Dev. Biol. 2021 April 21. 4;21:412-427. doi: 10.3389/fcell.2021.664317.
2020
Khan M, Arno G, Fakin A, Parfitt DA, Dhooge PPA, Albert S, Bax NM, Duijkers L, Niblock M, Hau KL, Bloch E, Schiff ER, Piccolo D, Hogden MC, Hoyng CB, Webster AR, Cremers FPM, Cheetham ME, Garanto A, Collin RWJ. Detailed Phenotyping and Therapeutic Strategies for Intronic ABCA4 Variants in Stargardt Disease. Mol Ther Nucleic Acids. 2020 Sep 4;21:412-427. doi: 10.1016/j.omtn.2020.06.007. Epub 2020 Jun 12. PMID: 32653833; PMCID: PMC7352060.
Mechaussier S, Almoallem B, Zeitz C, Van Schil K, Jeddawi L, Van Dorpe J, Dueñas Rey A, Condroyer C, Pelle O, Polak M, Boddaert N, Bahi-Buisson N, Cavallin M, Bacquet JL, Mouallem-Bézière A, Zambrowski O, Sahel JA, Audo I, Kaplan J, Rozet JM, De Baere E, Perrault I. Loss of Function of RIMS2 Causes a Syndromic Congenital Cone-Rod Synaptic Disease with Neurodevelopmental and Pancreatic Involvement. Am J Hum Genet. 2020 Jun 4;106(6):859-871. doi: 10.1016/j.ajhg.2020.04.018. Epub 2020 May 28. Erratum in: Am J Hum Genet. 2020 Sep 3;107(3):580. PMID: 32470375; PMCID: PMC7273530.
Khan M, Cornelis SS, Pozo-Valero MD, Whelan L, Runhart EH, Mishra K, Bults F, AlSwaiti Y, AlTalbishi A, De Baere E, Banfi S, Banin E, Bauwens M, Ben-Yosef T, Boon CJF, van den Born LI, Defoort S, Devos A, Dockery A, Dudakova L, Fakin A, Farrar GJ, Sallum JMF, Fujinami K, Gilissen C, Glavač D, Gorin MB, Greenberg J, Hayashi T, Hettinga YM, Hoischen A, Hoyng CB, Hufendiek K, Jägle H, Kamakari S, Karali M, Kellner U, Klaver CCW, Kousal B, Lamey TM, MacDonald IM, Matynia A, McLaren TL, Mena MD, Meunier I, Miller R, Newman H, Ntozini B, Oldak M, Pieterse M, Podhajcer OL, Puech B, Ramesar R, Rüther K, Salameh M, Salles MV, Sharon D, Simonelli F, Spital G, Steehouwer M, Szaflik JP, Thompson JA, Thuillier C, Tracewska AM, van Zweeden M, Vincent AL, Zanlonghi X, Liskova P, Stöhr H, Roach JN, Ayuso C, Roberts L, Weber BHF, Dhaenens CM, Cremers FPM. Resolving the dark matter of ABCA4 for 1054 Stargardt disease probands through integrated genomics and transcriptomics. Genet Med. 2020 Apr 20. doi: 10.1038/s41436-020-0787-4. Epub ahead of print. PMID: 32307445.
Mechaussier S, Almoallem B, Zeitz C, Van Schil K, Jeddawi L, Van Dorpe J, Dueñas Rey A, Condroyer C, Pelle O, Polak M, Boddaert N, Bahi-Buisson N, Cavallin M, Bacquet JL, Mouallem-Bézière A, Zambrowski O, Sahel JA, Audo I, Kaplan J, Rozet JM, De Baere E, Perrault I. Loss of Function of RIMS2 Causes a Syndromic Congenital Cone-Rod Synaptic Disease with Neurodevelopmental and Pancreatic Involvement. Am J Hum Genet. 2020 Jun 4;106(6):859-871. doi: 10.1016/j.ajhg.2020.04.018. Epub 2020 May 28. Erratum in: Am J Hum Genet. 2020 Sep 3;107(3):580. PMID: 32470375; PMCID: PMC7273530.
Khan M, Cornelis SS, Pozo-Valero MD, Whelan L, Runhart EH, Mishra K, Bults F, AlSwaiti Y, AlTalbishi A, De Baere E, Banfi S, Banin E, Bauwens M, Ben-Yosef T, Boon CJF, van den Born LI, Defoort S, Devos A, Dockery A, Dudakova L, Fakin A, Farrar GJ, Sallum JMF, Fujinami K, Gilissen C, Glavač D, Gorin MB, Greenberg J, Hayashi T, Hettinga YM, Hoischen A, Hoyng CB, Hufendiek K, Jägle H, Kamakari S, Karali M, Kellner U, Klaver CCW, Kousal B, Lamey TM, MacDonald IM, Matynia A, McLaren TL, Mena MD, Meunier I, Miller R, Newman H, Ntozini B, Oldak M, Pieterse M, Podhajcer OL, Puech B, Ramesar R, Rüther K, Salameh M, Salles MV, Sharon D, Simonelli F, Spital G, Steehouwer M, Szaflik JP, Thompson JA, Thuillier C, Tracewska AM, van Zweeden M, Vincent AL, Zanlonghi X, Liskova P, Stöhr H, Roach JN, Ayuso C, Roberts L, Weber BHF, Dhaenens CM, Cremers FPM. Resolving the dark matter of ABCA4 for 1054 Stargardt disease probands through integrated genomics and transcriptomics. Genet Med. 2020 Apr 20. doi: 10.1038/s41436-020-0787-4. Epub ahead of print. PMID: 32307445.
