Ella Kopcic; Rebekkah Hitti-Malin; Laura Whelan; Daan Panneman; Erica G.M. Boonen; Emma Duignan; Paul Kenna; David J Keegan; Laura K Finnegan; Frans Cremers; G. Jane Farrar, Novel findings from a smMIPs sequencing study of 223 individuals from an Irish cohort with macular degenerations, Investigative Ophthalmology and Visual Science (IOVS), ARVO 2024, 65, (7), 2024,
Conference Paper,
PUBLISHED
|
Sophia Millington-Ward , Arpad Palfi, Ciara Shortall, Laura K. Finnegan, Ethan Bargroff, Iris J. M. Post, John Maguire, Mustapha Irnaten, Colm O"Brien, Paul F. Kenna, Naomi Chadderton, G. Jane Farrar., AAV-NDI1 Therapy Provides Significant Benefit to Murine and Cellular Models of Glaucoma, Int. J. Mol. Sci. 2024, 25, 8876, 25, 2024, p8876 - 8893,
Journal Article,
PUBLISHED
URL
|
Cornelis SS, IntHout J, Runhart EH, Grunewald O, Lin S, Corradi Z, Khan M, Hitti-Malin RJ, Whelan L, Farrar GJ, Sharon D, van den Born LI, Arno G, Simcoe M, Michaelides M, Webster AR, Roosing S, Mahroo OA, Dhaenens CM, Cremers FPM; Study Group, Representation of Women Among Individuals With Mild Variants in ABCA4-Associated Retinopathy: A Meta-Analysis, JAMA Ophthalmol . 2024 May 1;142(5):463-471., 142, (5), 2024, p463 - 471, p10.1001/jamaophthalmol.2024.06 ,
Journal Article,
PUBLISHED
URL
|
Hitti-Malin RJ, Panneman DM, Corradi Z, Boonen EGM, Astuti G, Dhaenens CM, Stöhr H, Weber BHF, Sharon D, Banin E, Karali M, Banfi S, Ben-Yosef T, Glava" D, Farrar GJ, Ayuso C, Liskova P, Dudakova L, Vajter M, O"dak M, Szaflik JP, Matynia A, Gorin MB, Kämpjärvi K, Bauwens M, De Baere E, Hoyng CB, Li CHZ, Klaver CCW, Inglehearn CF, Fujinami K, Rivolta C, Allikmets R, Zernant J, Lee W, Podhajcer OL, Fakin A, Sajovic J, AlTalbishi A, Valeina S, Taurina G, Vincent AL, Roberts L, Ramesar R, Sartor G, Luppi E, Downes SM, van den Born LI, McLaren TL, De Roach JN, Lamey TM, Thompson JA, Chen FK, Tracewska AM, Kamakari S, Sallum JMF, Bolz HJ, Kayserili H, Roosing S, Cremers FPM., Towards Uncovering the Role of Incomplete Penetrance in Maculopathies through Sequencing of 105 Disease-Associated Genes, Biomolecules . 2024 Mar 19;14(3):367., 14, (3), 2024, p367 - 387,
Journal Article,
PUBLISHED
URL
|
Whelan, L. and Dockery, A. and Stephenson, K.A.J. and Zhu, J. and KopÄ iÄ , E. and Post, I.J.M. and Khan, M. and Corradi, Z. and Wynne, N. and Oâ Byrne, J.J. and Duignan, E. and Silvestri, G. and Roosing, S. and Cremers, F.P.M. and Keegan, D.J. and Kenna, P.F. and Farrar, G.J., Detailed analysis of an enriched deep intronic ABCA4 variant in Irish Stargardt disease patients, Scientific Reports, 13, (1), 2023,
Journal Article,
PUBLISHED
TARA - Full Text
DOI
|
de Bruijn, S.E. and Rodenburg, K. and Corominas, J. and Ben-Yosef, T. and Reurink, J. and Kremer, H. and Whelan, L. and Plomp, A.S. and Berger, W. and Farrar, G.J. and Ferenc Kovács, à . and Fajardy, I. and Hitti-Malin, R.J. and Weisschuh, N. and Weener, M.E. and Sharon, D. and Pennings, R.J.E. and Haer-Wigman, L. and Hoyng, C.B. and Nelen, M.R. and Vissers, L.E.L.M. and van den Born, L.I. and Gilissen, C. and Cremers, F.P.M. and Hoischen, A. and Neveling, K. and Roosing, S., Optical genome mapping and revisiting short-read genome sequencing data reveal previously overlooked structural variants disrupting retinal diseaseâ^'associated genes, Genetics in Medicine, (100345), 2023,
Notes: [cited By 1],
Journal Article,
PUBLISHED
TARA - Full Text
DOI
|
Chadderton, N. and Palfi, A. and Maloney, D.M. and Carrigan, M. and Finnegan, L.K. and Hanlon, K.S. and Shortall, C. and Oâ Reilly, M. and Humphries, P. and Cassidy, L. and Kenna, P.F. and Millington-Ward, S. and Farrar, G.J., Optimisation of AAV-NDI1 Significantly Enhances Its Therapeutic Value for Correcting Retinal Mitochondrial Dysfunction, Pharmaceutics, 15, (2), 2023,
Notes: [cited By 0],
Journal Article,
PUBLISHED
TARA - Full Text
DOI
|
Millington-Ward, S. and Chadderton, N. and Finnegan, L.K. and Post, I.J.M. and Carrigan, M. and Nixon, R. and Humphries, M.M. and Humphries, P. and Kenna, P.F. and Palfi, A. and Farrar, G.J., RPE-Directed Gene Therapy Improves Mitochondrial Function in Murine Dry AMD Models, International Journal of Molecular Sciences, 24, (4), 2023,
Notes: [cited By 0],
Journal Article,
PUBLISHED
TARA - Full Text
DOI
|
Corradi, Z. and Khan, M. and Hitti-Malin, R. and Mishra, K. and Whelan, L. and Cornelis, S.S. and Hoyng, C.B. and KÀmpjÀrvi, K. and Klaver, C.C.W. and Liskova, P. and Stöhr, H. and Weber, B.H.F. and Banfi, S. and Farrar, G.J. and Sharon, D. and Zernant, J. and Allikmets, R. and Dhaenens, C.-M. and Cremers, F.P.M., Targeted sequencing and in vitro splice assays shed light on ABCA4-associated retinopathies missing heritability, Human Genetics and Genomics Advances, 4, (4), 2023,
Notes: [cited By 0],
Journal Article,
PUBLISHED
TARA - Full Text
DOI
|
Stephenson, K.A.J. and Whelan, L. and Zhu, J. and Dockery, A. and Wynne, N.C. and Cairns, R.M. and Kirk, C. and Turner, J. and Duignan, E.S. and Oâ Byrne, J.J. and Silvestri, G. and Kenna, P.F. and Farrar, G.J. and Keegan, D.J., Usher Syndrome on the Island of Ireland: A Genotype-Phenotype Review, Investigative Ophthalmology and Visual Science, 64, (10), 2023,
Notes: [cited By 0],
Journal Article,
PUBLISHED
DOI
|
|