Professor Gwyneth Farrar
Research Professor, Genetics
Head of School Genetics & Microbiology, Trinity Inst. of Neurosciences (TCIN)
Publications and Further Research Outputs
Peer-Reviewed Publications
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), 2022
Fadaie, Z. and Whelan, L. and Dockery, A. and Li, C.H.Z. and Van Den Born, L.I. and Hoyng, C.B. and Gilissen, C. and Corominas, J. and Rowlands, C. and Megaw, R. and Lampe, A.K. and Cremers, F.P.M. and Farrar, G.J. and Ellingford, J.M. and Kenna, P.F. and Roosing, S., BBS1 branchpoint variant is associated with non-syndromic retinitis pigmentosa, Journal of Medical Genetics, 59, (5), 2022, p438-444
Laura K Finnegan, Naomi Chadderton, Paul F Kenna, Arpad Palfi, Michael Carty, Andrew G Bowie, Sophia Millington-Ward, Gwyneth Jane Farrar, SARM1 Ablation Is Protective and Preserves Spatial Vision in an In Vivo Mouse Model of Retinal Ganglion Cell Degeneration, International Journal of Molecular Sciences, 2022
Palfi, A. and Chadderton, N. and Millington-Ward, S. and Post, I. and Humphries, P. and Kenna, P.F. and Farrar, G.J., AAV-PHP.eB transduces both the inner and outer retina with high efficacy in mice, Molecular Therapy - Methods and Clinical Development, 25, 2022, p236-249
Stephenson, K.A.J. and Zhu, J. and Dockery, A. and Whelan, L. and Burke, T. and Turner, J. and Oâ byrne, J.J. and Jane Farrar, G. and Keegan, D.J., Clinical and Genetic Re-Evaluation of Inherited Retinal Degeneration Pedigrees following Initial Negative Findings on Panel-Based Next Generation Sequencing, International Journal of Molecular Sciences, 23, (2), 2022
Hitti-Malin, R.J. and Dhaenens, C.-M. and Panneman, D.M. and Corradi, Z. and Khan, M. and den Hollander, A.I. and Farrar, G.J. and Gilissen, C. and Hoischen, A. and van de Vorst, M. and Bults, F. and Boonen, E.G.M. and Saunders, P. and Roosing, S. and Cremers, F.P.M., Using single molecule Molecular Inversion Probes as a cost-effective, high-throughput sequencing approach to target all genes and loci associated with macular diseases, Human Mutation, 43, (12), 2022, p2234-2250
O'Connell, A. and Zhu, J. and Stephenson, K.A.J. and Whelan, L. and Dockery, A. and Turner, J. and O'Byrne, J.J. and Farrar, G.J. and Keegan, D., MFRP -Associated Retinopathy and Nanophthalmos in Two Irish Probands: A Case Report, Case Reports in Ophthalmology, 13, (3), 2022, p1015-1023
Velde, H.M. and Reurink, J. and Held, S. and Li, C.H.Z. and Yzer, S. and Oostrik, J. and Weeda, J. and Haer-Wigman, L. and Yntema, H.G. and Roosing, S. and Pauleikhoff, L. and Lange, C. and Whelan, L. and Dockery, A. and Zhu, J. and Keegan, D.J. and Farrar, G.J. and Kremer, H. and Lanting, C.P. and Damme, M. and Pennings, R.J.E., Usher syndrome type IV: clinically and molecularly confirmed by novel ARSG variants, Human Genetics, 2022
Dockery, A. and Whelan, L. and Humphries, P. and Jane Farrar, G., Next-generation sequencing applications for inherited retinal diseases, International Journal of Molecular Sciences, 22, (11), 2021
Stephenson, K.A.J. and Zhu, J. and Wynne, N. and Dockery, A. and Cairns, R.M. and Duignan, E. and Whelan, L. and Malone, C.P. and Dempsey, H. and Collins, K. and Routledge, S. and Pandey, R. and Crossan, E. and Turner, J. and Oâ Byrne, J.J. and Brady, L. and Silvestri, G. and Kenna, P.F. and Farrar, G.J. and Keegan, D.J., Target 5000: a standardized all-Ireland pathway for the diagnosis and management of inherited retinal degenerations, Orphanet Journal of Rare Diseases, 16, (1), 2021
Cassidy, P.S. and Kelly, R.A. and Reina-Torres, E. and Sherwood, J.M. and Humphries, M.M. and Kiang, A.-S. and Farrar, G.J. and O'Brien, C. and Campbell, M. and Stamer, W.D. and Overby, D.R. and Humphries, P. and O'Callaghan, J., siRNA targeting Schlemm's canal endothelial tight junctions enhances outflow facility and reduces IOP in a steroid-induced OHT rodent model, Molecular Therapy - Methods and Clinical Development, 20, 2021, p86-94
Kelly, Ruth A and Perkumas, Kristin M and Campbell, Matthew and Farrar, G Jane and Stamer, W Daniel and Humphries, Pete and O'Callaghan, Jeffrey and O'Brien, Colm J, Fibrotic Changes to Schlemm's Canal Endothelial Cells in Glaucoma, International journal of molecular sciences, 22, (17), 2021
Fadaie, Z. and Whelan, L. and Ben-Yosef, T. and Dockery, A. and Corradi, Z. and Gilissen, C. and Haer-Wigman, L. and Corominas, J. and Astuti, G.D.N. and de Rooij, L. and van den Born, L.I. and Klaver, C.C.W. and Hoyng, C.B. and Wynne, N. and Duignan, E.S. and Kenna, P.F. and Cremers, F.P.M. and Farrar, G.J. and Roosing, S., Whole genome sequencing and in vitro splice assays reveal genetic causes for inherited retinal diseases, npj Genomic Medicine, 6, (1), 2021
Reurink, J. and Dockery, A. and OziÄ bÅ'o, D. and Farrar, G.J. and OÅ'dak, M. and Ten Brink, J.B. and Bergen, A.A. and Rinne, T. and Yntema, H.G. and Pennings, R.J.E. and van den Born, L.I. and Aben, M. and Oostrik, J. and Venselaar, H. and Plomp, A.S. and Khan, M.I. and van Wijk, E. and Cremers, F.P.M. and Roosing, S. and Kremer, H., Molecular inversion probe-based sequencing of ush2a exons and splice sites as a cost-effective screening tool in ush2 and arrp cases, International Journal of Molecular Sciences, 22, (12), 2021
Zhu, J. and Stephenson, K.A.J. and Farrar, G.J. and Turner, J. and Oâ Byrne, J.J. and Keegan, D., Management of significant secondary genetic findings in an ophthalmic genetics clinic, Eye (Basingstoke), 2021
Whelan, L. and Dockery, A. and Wynne, N. and Zhu, J. and Stephenson, K. and Silvestri, G. and Turner, J. and Oâ Byrne, J.J. and Carrigan, M. and Humphries, P. and Keegan, D. and Kenna, P.F. and Farrar, G.J., Findings from a genotyping study of over 1000 people with inherited retinal disorders in Ireland, Genes, 11, (1), 2020
Kiang, A.-S. and Kenna, P.F. and Humphries, M.M. and Ozaki, E. and Koenekoop, R.K. and Campbell, M. and Jane Farrar, G. and Humphries, P., Properties and therapeutic implications of an enigmatic d477g rpe65 variant associated with autosomal dominant retinitis pigmentosa, Genes, 11, (12), 2020, p1-21
Stephenson, K.A.J. and Dockery, A. and Oâ Keefe, M. and Green, A. and Farrar, G.J. and Keegan, D.J., A FBN1 variant manifesting as non-syndromic ectopia lentis with retinal detachment: clinical and genetic characteristics, Eye (Basingstoke), 34, (4), 2020, p690-694
Kenna, P.F. and Humphries, M.M. and Kiang, A.-S. and Brabet, P. and Guillou, L. and Ozaki, E. and Campbell, M. and Jane Farrar, G. and Koenekoop, R. and Humphries, P., Advanced late-onset retinitis pigmentosa with dominant-acting D477G RPE65 mutation is responsive to oral synthetic retinoid therapy, BMJ Open Ophthalmology, 5, (1), 2020
Millington-Ward, S. and Chadderton, N. and Berkeley, M. and Finnegan, L.K. and Hanlon, K.S. and Carrigan, M. and Humphries, P. and Kenna, P.F. and Palfi, A. and Farrar, G.J., Novel 199 base pair NEFH promoter drives expression in retinal ganglion cells, Scientific Reports, 10, (1), 2020
Lane, A. and Jovanovic, K. and Shortall, C. and Ottaviani, D. and Panes, A.B. and Schwarz, N. and Guarascio, R. and Hayes, M.J. and Palfi, A. and Chadderton, N. and Farrar, G.J. and Hardcastle, A.J. and Cheetham, M.E., Modeling and Rescue of RP2 Retinitis Pigmentosa Using iPSC-Derived Retinal Organoids, Stem Cell Reports, 15, (1), 2020, p67-79
Palfi, A. and Yesmambetov, A. and Humphries, P. and Hokamp, K. and Farrar, G.J., Non-photoreceptor Expression of Tulp1 May Contribute to Extensive Retinal Degeneration in Tulp1-/- Mice, Frontiers in Neuroscience, 14, (656), 2020
Maloney, D.M. and Chadderton, N. and Millington-Ward, S. and Palfi, A. and Shortall, C. and Oâ Byrne, J.J. and Cassidy, L. and Keegan, D. and Humphries, P. and Kenna, P. and Farrar, G.J., Optimized OPA1 Isoforms 1 and 7 Provide Therapeutic Benefit in Models of Mitochondrial Dysfunction, Frontiers in Neuroscience, 14, (571479), 2020
Palfi, A. and Yesmambetov, A. and Millington-Ward, S. and Shortall, C. and Humphries, P. and Kenna, P.F. and Chadderton, N. and Farrar, G.J., AAV-Delivered Tulp1 Supplementation Therapy Targeting Photoreceptors Provides Minimal Benefit in Tulp1â^'/â^' Retinas, Frontiers in Neuroscience, 14, (891), 2020
Khan, M. and Cornelis, S.S. and Pozo-Valero, M.D. and Whelan, L. and Runhart, E.H. and Mishra, K. and Bults, F. and AlSwaiti, Y. and AlTalbishi, A. and De Baere, E. and Banfi, S. and Banin, E. and Bauwens, M. and Ben-Yosef, T. and Boon, C.J.F. and van den Born, L.I. and Defoort, S. and Devos, A. and Dockery, A. and Dudakova, L. and Fakin, A. and Farrar, G.J. and Sallum, J.M.F. and Fujinami, K. and Gilissen, C. and GlavaÄ , D. and Gorin, M.B. and Greenberg, J. and Hayashi, T. and Hettinga, Y.M. and Hoischen, A. and Hoyng, C.B. and Hufendiek, K. and JÀgle, H. and Kamakari, S. and Karali, M. and Kellner, U. and Klaver, C.C.W. and Kousal, B. and Lamey, T.M. and MacDonald, I.M. and Matynia, A. and McLaren, T.L. and Mena, M.D. and Meunier, I. and Miller, R. and Newman, H. and Ntozini, B. and Oldak, M. and Pieterse, M. and Podhajcer, O.L. and Puech, B. and Ramesar, R. and RÃŒther, K. and Salameh, M. and Salles, M.V. and Sharon, D. and Simonelli, F. and Spital, G. and Steehouwer, M. and Szaflik, J.P. and Thompson, J.A. and Thuillier, C. and Tracewska, A.M. and van Zweeden, M. and Vincent, A.L. and Zanlonghi, X. and Liskova, P. and Stöhr, H. and Roach, J.N.D. and Ayuso, C. and Roberts, L. and Weber, B.H.F. and Dhaenens, C.â M. and Cremers, F.P.M., Resolving the dark matter of ABCA4 for 1054 Stargardt disease probands through integrated genomics and transcriptomics, Genetics in Medicine, 22, (7), 2020, p1235-1246
Maloney, D.M. and Chadderton, N. and Palfi, A. and Millington-Ward, S. and Farrar, G.J., Retinal Bioenergetics: New Insights for Therapeutics, Advances in Experimental Medicine and Biology, 1185, 2019, p275-279
Dockery, A. and Carrigan, M. and Wynne, N. and Stephenson, K. and Keegan, D. and Kenna, P.F. and Farrar, G.J., A Novel FLVCR1 Variant Implicated in Retinitis Pigmentosa, Advances in Experimental Medicine and Biology, 1185, 2019, p203-207
Dockery, A. and Stephenson, K. and Keegan, D. and Wynne, N. and Silvestri, G. and Humphries, P. and Kenna, P.F. and Carrigan, M. and Farrar, G.J., Target 5000: Target capture sequencing for inherited retinal degenerations, Genes, 8, (11), 2017, p304-
Hanlon, K.S. and Chadderton, N. and Palfi, A. and Fernandez, A.B. and Humphries, P. and Kenna, P.F. and Millington-Ward, S. and Farrar, G.J., A novel retinal ganglion cell promoter for utility in AAV vectors, Frontiers in Neuroscience, 11, (SEP), 2017
Farrar, G.J. and Carrigan, M. and Dockery, A. and Millington-Ward, S. and Palfi, A. and Chadderton, N. and Humphries, M. and Kiang, A.S. and Kenna, P.F. and Humphries, P., Toward an elucidation of the molecular genetics of inherited retinal degenerations, Human Molecular Genetics, 26, (R1), 2017, pR2-R11
Rodriguez, A.S. and Engel, T. and Palfi, A. and Farrar, G.J. and Henshall, D.C. and Jimenez-Mateos, E.M., Tubby-like protein 1 (Tulp1) is a target of microrna-134 and is down-regulated in experimental epilepsy, International Journal of Physiology, Pathophysiology and Pharmacology, 9, (6), 2017, p178-187
Carrigan M, Duignan E, Malone C.P.G, Stephenson K, Saad T, McDermott C, Green A, Keegan D, Humphries P, Kenna P.F, Farrar G.J, Panel-Based population next-generation sequencing for inherited retinal degenerations, Scientific Reports, 6, 2016, p33248 -
Palfi, A. and Hokamp, K. and Hauck, S.M. and Vencken, S. and Millington-Ward, S. and Chadderton, N. and Carrigan, M. and Kortvely, E. and Greene, C.M. and Kenna, P.F. and Farrar, G.J., MicroRNA regulatory circuits in a mouse model of inherited retinal degeneration, Scientific Reports, 6, (31431), 2016
Carrigan M, Duignan E, Humphries P, Palfi A, Kenna P.F, Jane Farrar G, A novel homozygous truncating GNAT1 mutation implicated in retinal degeneration, British Journal of Ophthalmology, 100, (4), 2016, p501 - 504
Palfi, A. and Chadderton, N. and O'Reilly, M. and Nagel-Wolfrum, K. and Wolfrum, U. and Bennett, J. and Humphries, P. and Kenna, P. and Millington-Ward, S. and Farrar, J., Corrigendum to â Efficient gene delivery to photoreceptors using AAV2/rh10 and rescue of the Rhoâ"/â" mouseâ (Molecular Therapy - Methods and Clinical Development (2015) 2 (S2329050116300286) (10.1038/mtm.2015.16)), Molecular Therapy - Methods and Clinical Development, 3, 2016, p16032
Palfi Arpad, Chadderton Naomi, O'reilly Mary, Nagel-Wolfrum Kerstin, Wolfrum Uwe, Bennett Jean, Humphries Peter, Kenna Paul, Millington-Ward Sophia, Farrar Jane, Efficient gene delivery to photoreceptors using AAV2/rh10 and rescue of the Rhoâ, '/â, ' mouse , Molecular Therapy-Methods & Clinical Development , 2 , 2015, p15016 -
Mansergh FC, Carrigan M, Hokamp K, Farrar GJ, Gene expression changes during retinal development and rod specification, Molecular Vision, 21, 2015, p61 - 87
Mansergh FC, Chadderton N, Kenna PF, Gobbo OL, Farrar GJ, Cell therapy using retinal progenitor cells shows therapeutic effect in a chemically-induced rotenone mouse model of Leber hereditary optic neuropathy, European Journal of Human Genetics, 22, (11), 2014, p1314-20
Trapani, I. and Colella, P. and Sommella, A. and Iodice, C. and Cesi, G. and de Simone, S. and Marrocco, E. and Rossi, S. and Giunti, M. and Palfi, A. and Farrar, G.J. and Polishchuk, R. and Auricchio, A., Effective delivery of large genes to the retina by dual AAV vectors, EMBO Molecular Medicine, 6, (2), 2014, p194-211
Farrar GJ, Millington-Ward S, Chadderton N, Mansergh FC, Palfi A., Gene therapies for inherited retinal disorders, Visual Neuroscience, 31, ((4-5)), 2014, p289-307
N Chadderton, A Palfi, S Millington-Ward, O Gobbo, N Overlack, M Carrigan, M O'Reilly, M Campbell, C Ehrhardt, U Wolfrum, P Humphries, PF Kenna, GJ Farrar, Intravitreal delivery of AAV-NDI1 provides functional benefit in a murine model of Leber hereditary optic neuropathy, Eur J Hum Genet, 21, (1), 2013, p62-68
Morgan CP, Allen DS, Millington-Ward S, O'Dwyer GE, Palfi A, Farrar GJ., A mutation-independent therapeutic strategy for dominant dystrophic epidermolysis bullosa., Journal of Investigative Dermatology, 133, 2013, p2793 - 2796
Egan CM, Nyman U, Skotte J, Streubel G, Turner S, O'Connell DJ, Rraklli V, Dolan MJ, Chadderton N, Hansen K, Farrar GJ, Helin K, Holmberg J, Bracken AP, CHD5 is required for neurogenesis and has a dual role in facilitating gene expression and polycomb gene repression., Developmental cell, 26, (3), 2013, p223-36
Farrar, G.J., Chadderton, N., Kenna, P.F., Millington-Ward, S, Mitochondrial disorders: aetiologies, models systems, and candidate therapies, Trends in Genetics, 2013, p00-00
Chadderton N, Palfi A, Millington-Ward S, Gobbo O, Overlack N, Carrigan M, O'Reilly M, Campbell M, Ehrhardt C, Wolfrum U, Humphries P, Kenna PF, Jane Farrar G, Intravitreal delivery of AAV-NDI1 provides functional benefit in a murine model of Leber hereditary optic neuropathy., European journal of human genetics : EJHG, 21, (1), 2013, p62-8
Doyle SL, Campbell M, Ozaki E, Salomon RG, Mori A, Kenna PF, Farrar GJ, Kiang AS, Humphries MM, Lavelle EC, O'Neill LA, Hollyfield JG, Humphries P, NLRP3 has a protective role in age-related macular degeneration through the induction of IL-18 by drusen components., Nature medicine, 18, (5), 2012, p791-798
Humphries MM, Kenna PF, Campbell M, Tam LC, Nguyen AT, Farrar GJ, Botto M, Kiang AS, Humphries P, C1q enhances cone photoreceptor survival in a mouse model of autosomal recessive retinitis pigmentosa., European journal of human genetics : EJHG, 20, (1), 2012, p64-8
Tam LC, Kiang AS, Campbell M, Keaney J, Farrar GJ, Humphries MM, Kenna PF, Humphries P, Protein misfolding and potential therapeutic treatments in inherited retinopathies., Advances in experimental medicine and biology, 723, 2012, p567-72
Millington-Ward, S. and O'Reilly, M. and Chadderton, N. and Kenna, P.F. and Farrar, G.J. and Palfi, A., Gene therapy for retinal degenerations, 2012, 397-418pp
Czekaj M, Haas J, Gebhardt M, Müller-Reichert T, Humphries P, Farrar J, Bartsch U, Ader M, In vitro expanded stem cells from the developing retina fail to generate photoreceptors but differentiate into myelinating oligodendrocytes., PloS one, 7, (7), 2012, pe41798
Palfi, A., Chadderton, N., McKee, A.G., Blanco Fernandez, A., Humphries, P., Kenna, P.F., Farrar, G.J., Efficacy of codelivery of dual AAV2/5 vectors in the murine retina and hippocampus, Human Gene Therapy, 23, (8), 2012, p847-858
Farrar GJ, Millington-Ward S, Chadderton N, Humphries P, Kenna PF, Gene-based therapies for dominantly inherited retinopathies., Gene therapy, 19, (2), 2012, p137-44
Bowne, SJ, Humphries, MM, Sullivan, LS, Kenna, PF, Tam, LCS, Kiang, AS, Campbell, M, Weinstock, GM, Koboldt, DC, Ding, L, Fulton, RS, Sodergren, EJ, Allman, D, Millington-Ward, S, Palfi, A, McKee, A, Blanton, SH, Slifer, S, Konidari, I, Farrar, GJ, Daiger, SP, Humphries, P, A dominant mutation in RPE65 identified by whole-exome sequencing causes retinitis pigmentosa with choroidal involvement, EUROPEAN JOURNAL OF HUMAN GENETICS, 19, (10), 2011, p1074-1081
Sophia Millington-Ward, Naomi Chadderton, Mary O'Reilly, Arpad Palfi, Tobias Goldmann, Claire Kilty, Marian Humphries, Uwe Wolfrum, Jean Bennett, Peter Humphries, Paul F Kenna and G Jane Farrar, Suppression and Replacement Gene Therapy for Autosomal Dominant Disease in a Murine Model of Dominant Retinitis Pigmentosa, Molecular Therapy, 2011
Campbell M, Humphries MM, Nguyen ATH, Gobbo OL, Tam LCS, Suzuki M, Hanrahan F, Ozaki E, Farrar G-J, Kiang A-S, Kenna PF, Humphries P. , Systemic low-molecular weight drug delivery to pre-selected neuronal regions, EMBO Molecular Medicine, 3, (4), 2011, p235-245
Bazou D, Kearney R, Mansergh F, Bourdon C, Farrar J, Wride M, Gene expression analysis of mouse embryonic stem cells following levitation in an ultrasound standing wave trap., Ultrasound in medicine & biology, 37, (2), 2011, p321-30
Bowne, S.J., Humphries, M.M., Sullivan, L.S., Kenna, P.F., Tam, L.C.S., Kiang, A.S., Campbell, M., (...), Humphries, P. , Erratum: A dominant mutation in RPE65 identified by whole-exome sequencing causes retinitis pigmentosa with choroidal involvement (European Journal of Human Genetics (2011) 19 (1074-1081) DOI: 10.1038/ejhg.2011.86), 2011, - 1109
Bowne SJ, Humphries MM, Sullivan LS, Kenna PF, Tam LC, Kiang AS, Campbell M, Weinstock GM, Koboldt DC, Ding L, Fulton RS, Sodergren EJ, Allman D, Millington-Ward S, Palfi A, McKee A, Blanton SH, Slifer S, Konidari I, Farrar GJ, Daiger SP, Humphries P, A dominant mutation in RPE65 identified by whole-exome sequencing causes retinitis pigmentosa with choroidal involvement., European Journal of Human Genetics : EJHG, 19, (10), 2011, p1074-81
Farrar, G.J. and Palfi, A. and Kenna, P.F. and O'Reilly, M., Gene-Based Therapies for Dominant Retinopathies, Current Gene Therapy, 10, (5), 2010, p381-388
Palfi A, Millington-Ward S, Chadderton N, O'Reilly M, Goldmann T, Humphries MM, Li T, Wolfrum U, Humphries P, Kenna PF, Farrar GJ., Adeno-associated virus-mediated rhodopsin replacement provides therapeutic benefit in mice with a targeted disruption of the rhodopsin gene, Human Gene Therapy, 21, (3), 2010, p311-323
Lawrence C. S. Tam, Anna-Sophia Kiang, Matthew Campbell, James Keaney, G. Jane Farrar, Marian M. Humphries, Paul F. Kenna and Pete Humphries, Prevention of autosomal dominant retinitis pigmentosa by systemic drug therapy targeting heat shock protein 90 (Hsp90), Human Molecular Genetics, 19, (22), 2010, p4421-4436
Mansergh FC, Vawda R, Millington-Ward S, Kenna PF, Haas J, Gallagher C, Wilson J, Humphries P, Ader M, Farrar GJ., Loss of photoreceptor potential from retinal progenitor cell cultures, despite improvements in survival, Experimental Eye Research, 91, (4), 2010, p500 - 512
McKee AG, Loscher JS, O'Sullivan NC, Chadderton N, Palfi A, Batti L, Sheridan GK, O'Shea S, Moran M, McCabe O, Fernández AB, Pangalos MN, O'Connor JJ, Regan CM, O'Connor WT, Humphries P, Farrar GJ, Murphy KJ., AAV-mediated chronic over-expression of SNAP-25 in adult rat dorsal hippocampus impairs memory-associated synaptic plasticity, Journal of Neurochemistry, 112, (4), 2010, p991-1004
Campbell M, Nguyen AT, Kiang AS, Tam L, Kenna PF, Dhubhghaill SN, Humphries M, Farrar GJ, Humphries P, Reversible and size-selective opening of the inner Blood-Retina barrier: a novel therapeutic strategy., Advances in Experimental Medicine and Biology, 664, (Part 3), 2010, p301-8
Tam LC, Kiang AS, Campbell M, Keaney J, Farrar GJ, Humphries MM, Kenna PF, Humphries P, Prevention of autosomal dominant retinitis pigmentosa by systemic drug therapy targeting heat shock protein 90 (Hsp90)., Human Molecular Genetics, 19, (22), 2010, p4421-36
Tam LC, Kiang AS, Chadderton N, Kenna PF, Campbell M, Humphries MM, Farrar GJ, Humphries P, Protection of photoreceptors in a mouse model of RP10., Advances in Experimental Medicine and Biology, 664, (Part 5), 2010, p559-65
Chadderton, N, Millington-Ward, S, Palfi, A, O'Reilly, M, Tuohy, G, Humphries, MM, Li, T, Humphries, P, Kenna, PF, Farrar, GJ, Improved retinal function in a mouse model of dominant retinitis pigmentosa following AAV-delivered gene therapy., Molecular Therapy : The Journal of the American Society of Gene Therapy, 17, (4), 2009, p593-599
Matthew Campbell, Anh T. H. Nguyen, Anna-Sophia Kiang, Lawrence C. S. Tam, Oliviero L. Gobbo, Christian Kerskens, Sorcha Ni Dhubhghaill, Marian M. Humphries, G.-Jane Farrar, Paul F. Kenna and Peter Humphries, An experimental platform for systemic drug delivery to the retina, Proceedings of the National Academy of Sciences of the United States, 106, (42), 2009, p17817 - 17822
Loscher, CJ, Hokamp, K, Wilson, JH, Li, T, Humphries, P, Farrar, GJ, Palfi, A, A common microRNA signature in mouse models of retinal degeneration., Experimental eye research, 87, (6), 2008, p529 - 534
N. Chadderton, S. Millington-Ward, S. Palfi, M, O'Reilly, G. Touhy, M. Humphries, P. Kenna, J. Farrar, Improved retinal function in a mouse model of dominant retinitis pigmentosa following AAV-delivered gene therapy, Molecular Therapy, 17, (4), 2008, p593 - 599
Reynolds, AL, Danciger, M, Farrar, GJ, Humphries, P, Kenna, PF, Influence of a quantitative trait locus on mouse chromosome 19 to the light-adapted electroretinogram., Investigative ophthalmology & visual science, 49, (9), 2008
Tam, LC, Kiang, AS, Kennan, A, Kenna, PF, Chadderton, N, Ader, M, Palfi, A, Aherne, A, Ayuso, C, Campbell, M, Reynolds, A, McKee, A, Humphries, MM, Farrar, GJ, Humphries, P, Therapeutic benefit derived from RNAi-mediated ablation of IMPDH1 transcripts in a murine model of autosomal dominant retinitis pigmentosa (RP10)., Human Molecular Genetics, 17, (14), 2008, p2084-2100
Campbell, M, Kiang, AS, Kenna, PF, Kerskens, C, Blau, C, O'Dwyer, L, Tivnan, A, Kelly, JA, Brankin, B, Farrar, GJ, Humphries, P, RNAi-mediated reversible opening of the blood-brain barrier., The Journal of Gene Medicine, 10, (8), 2008, p930 - 947
O'Reilly, M, Millington-Ward, S, Palfi, A, Chadderton, N, Cronin, T, McNally, N, Humphries, MM, Humphries, P, Kenna, PF, Farrar, GJ, A transgenic mouse model for gene therapy of rhodopsin-linked Retinitis Pigmentosa., Vision Research, 48, (3), 2008, p386-391
Bartsch, U, Oriyakhel, W, Kenna, PF, Linke, S, Richard, G, Petrowitz, B, Humphries, P, Farrar, GJ, Ader, M, Retinal cells integrate into the outer nuclear layer and differentiate into mature photoreceptors after subretinal transplantation into adult mice., Experimental eye research, 86, (4), 2008
Allen, D, Winters, E, Kenna, PF, Humphries, P, Farrar, GJ, Reference gene selection for real-time rtPCR in human epidermal keratinocytes., Journal of dermatological science, 49, (3), 2008
Reynolds, AL, Farrar, GJ, Humphries, P, Kenna, PF, Variation in the electroretinogram of C57BL/6 substrains of mouse., Advances in experimental medicine and biology, 613, 2008
Loscher, CJ, Hokamp, K, Kenna, PF, Ivens, AC, Humphries, P, Palfi, A, Farrar, GJ, Altered retinal microRNA expression profile in a mouse model of retinitis pigmentosa., Genome biology, 8, (11), 2007
O'Reilly, M, Palfi, A, Chadderton, N, Millington-Ward, S, Ader, M, Cronin, T, Tuohy, T, Auricchio, A, Hildinger, M, Tivnan, A, McNally, N, Humphries, MM, Kiang, AS, Humphries, P, Kenna, PF, Farrar, GJ, RNA interference-mediated suppression and replacement of human rhodopsin in vivo., American Journal of Human Genetics, 81, (1), 2007, p127-135
Allen, D, Kenna, PF, Palfi, A, McMahon, HP, Millington-Ward, S, O'Reilly, M, Humphries, P, Farrar, GJ, Development of strategies for conditional RNA interference., The journal of gene medicine, 9, (4), 2007
Palfi A, Ader M, Kiang AS, Millington-Ward S, Clark G, O'Reilly M, McMahon HP, Kenna PE, Humphries P, Farrar GJ, RNAi-based suppression and replacement of rds-peripherin in retinal organotypic culture, HUMAN MUTATION, 27, (3), 2006, p260 - 268
Aherne A, Kennan A, Kenna PE, McNally N, Farrar GJ, Humphries P, Molecular mechanisms of photoreceptor degeneration in RP caused by IMPDH1 mutations, RETINAL DEGENERATIVE DISEASES ADVANCES IN EXPERIMENTAL MEDICINE AND BIOLOGY, 572, 2006, p81 - 87
Millington-Ward S, McMahon HP, Farrar GJ, Emerging therapeutic approaches for osteogenesis imperfecta, TRENDS IN MOLECULAR MEDICINE, 11, (6), 2005, p299 - 305
Kernan FL, Kenna PF, Miura M, Humphries P, Farrar GJ, Development of a strategy for the evaluation of the therapeutic potential of p35 for retinal degenerations, INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE, 46, (Suppl. S), 2005, p1683
Kiang AS, Palfi A, Ader M, Kenna PF, Millington-Ward S, Clark G, Kennan A, O'Reilly M, Tam LCT, Aherne A, McNally N, Humphries P, Farrar GJ, Toward a gene therapy for dominant disease: Validation of an RNA interference-based mutation-independent approach, MOLECULAR THERAPY, 12, (3), 2005, p555 - 561
S. Millington-Ward, H. P. McMahon, D. Allen, G. Tuohy, A. S. Kiang, A. Palfi, P. F. Kenna, P. Humphries and G. J. Farrar, RNAi of COL1A1 in mesenchymal progenitor cells, EUROPEAN JOURNAL OF HUMAN GENETICS, 12, (10), 2004, p864 - 866
Cronin TC, O'Reilly M, O'Neill B, Kiang AS, Palfi A, Kenna PF, Farrar GJ, Humphries P, Mutation-Independent suppression of rhodopsin in Autosomal dominant Retinitis Pigmentosa by siRNA, INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE, 45, (Suppl. 2), 2004, pU586 - U586
Kennan A, Demtroder K, McNally N, McKee A, Palfi A, Humphries M, Farrar GJ, Kenna PF, Orntoft T, Humphries P, Comparative analysis of global RNA expression profiles in the retinas of wild type and rho-/- mice, INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE, 45, (Suppl. 1), 2004, pU946 - U946
Palfi A, Kiang AS, McMahon HP, Millington-Ward S, Kenna PF, Humphries P, Farrar GJ, Validation of RNAi technology for suppression and replacement of rds-peripherin, INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE, 45, (Suppl. 2), 2004, pU519 - U519
A. Aherne, A. Kennan, P. F. Kenna, N. McNally, D. G. Lloyd, I. L. Alberts, A. S. Kiang, M. M. Humphries, C. Ayuso, P. C. Engel, J. J. Gu, B. S. Mitchell, G. J. Farrar and P. Humphries, On the molecular pathology of neurodegeneration in IMPDH1-based retinitis pigmentosa, HUMAN MOLECULAR GENETICS, 13, (6), 2004, p641 - 650
Kiang AS, Farrar GJ, Kenna PF, Humphries P, Use of RNA interference to knockdown expression of mouse rhodopsin in Cos-7 cells, INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE, 44, (Suppl. 1), 2003, ppU404 - U404
Ahearne A, Kennan A, Bowne SJ, Daiger SP, Engel PC, Farrar GJ, Kenna PF, Humphries P, Functional analysis of mutations in IMPDH1 gene implicated in RP10 form of retinitis pigmentosa, INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE, INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE, 44, (Suppl. 2), 2003, ppU277 - U277
): Kenna PF, Timoney P, McNally N, Humphries P, Farrar GJ, The effects of ambient light exposure on the retinopathy induced by targeted deletion at codon 307 of the mouse Rds-peripherin gene, INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE, 44, (Suppl. 2), 2003, ppU544 - U544
A. Kennan, A. Aherne, S. J. Bowne, S. P. Daiger, G. J. Farrar, P. F. Kenna and P. Humphries, On the role of IMPDH1 in retinal degeneration, RETINAL DEGENERATIONS: MECHANISMS AND EXPERIMENTAL THERAPY ADVANCES IN EXPERIMENTAL MEDICINE AND BIOLOGY, 533, 2003, p13 - 18
McMahon HP, Allen D, Humphries P, Kenna PF, Millington-Ward S, Farrar GJ, Mutation-independent gene therapy strategy for osteogenesis imperfecta, AMERICAN JOURNAL OF HUMAN GENETICS, 73, (5), 2003, pp622 - 622
S. Millington-Ward, C. Allers, G. Tuohy, P. Conget, D. Allen, H. P. McMahon, P. F. Kenna, P. Humphries and G. J. Farrar, Validation in mesenchymal progenitor cells of a mutation-independent ex vivo approach to gene therapy for osteogenesis imperfecta, Human molecular genetics, 11, (19), 2002, p2201-6
McNally NM, Kenna PF, Rancourt D, Ahmed T, Stitt A, Colledge W, O'Neill B, Humphries M, Humphries P, Farrar GJ, Retinopathy induced in mice by targeted single base deletion at codon 307 of the rds-Peripherin gene, INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE, 43, (Suppl. 2), 2002, ppU1017 - U1017
N. McNally, P. F. Kenna, D. Rancourt, T. Ahmed, A. Stitt, W. H. Colledge, D. G. Lloyd, A. Palfi, B. O'Neill, M. M. Humphries, P. Humphries and G. J. Farrar, Murine model of autosomal dominant retinitis pigmentosa generated by targeted deletion at codon 307 of the rds-peripherin gene, Human molecular genetics, 11, (9), 2002, p1005-16
G. Tuohy, S. Millington-Ward, P. F. Kenna, P. Humphries and G. J. Farrar, Sensitivity of photoreceptor-derived cell line (661W) to baculoviral p35, Z-VAD.FMK, and Fas-associated death domain, Investigative ophthalmology & visual science, 43, (11), 2002, p3583-9
Sophia Millington-Ward, Carolina Allers, Gearóid Tuohy, Paulette Conget, Danny Allen, Helena P. McMahon, Paul F. Kenna, Peter Humphries and G. Jane Farrar , Validation in mesenchymal progenitor cells of a mutation-independent ex vivo approach to gene therapy for osteogenesis imperfecta , Human Molecular Genetics, 11, (19), 2002, p2201 - 2206
McNally N, Kenna PF, Rancourt D, Ahmed T, Stitt A, Colledge WH, Lloyd DG, Palfi A, O'Neill B, Humphries MM, Humphries P, Farrar GJ, Murine model of autosomal dominant retinitis pigmentosa generated by targeted deletion at codon 307 of the rds-peripherin gene, Human Molecular Genetics , 11, (9), 2002, p1005 - 1016
Gearo"id Tuohy, Sophia Millington-Ward, Paul F. Kenna, Peter Humphries, and G. Jane Farrar, Sensitivity of Photoreceptor-Derived Cell Line (661W) to Baculoviral p35, Z-VAD.FMK, and Fas-Associated Death Domain , Investigative Ophthalmology and Visual Science, 43, 2002, p3583 - 3589
G. J. Farrar, P. F. Kenna and P. Humphries, On the genetics of retinitis pigmentosa and on mutation-independent approaches to therapeutic intervention, The EMBO journal, 21, (5), 2002, p857-64
Farrar GJ, Kenna PF, Humphries P., On the genetics of retinitis pigmentosa and on mutation-independent approaches to therapeutic intervention, by Kenna, P. F. , EMBO Journal, 21, 2002
A. Kennan, A. Aherne, A. Palfi, M. Humphries, A. McKee, A. Stitt, D. A. Simpson, K. Demtroder, T. Orntoft, C. Ayuso, P. F. Kenna, G. J. Farrar and P. Humphries, Identification of an IMPDH1 mutation in autosomal dominant retinitis pigmentosa (RP10) revealed following comparative microarray analysis of transcripts derived from retinas of wild-type and Rho(-/-) mice, Human molecular genetics, 11, (5), 2002, p547-57
M. M. Humphries, S. Kiang, N. McNally, M. A. Donovan, P. A. Sieving, R. A. Bush, S. Machida, T. Cotter, A. Hobson, J. Farrar, P. Humphries and P. Kenna, Comparative structural and functional analysis of photoreceptor neurons of Rho-/- mice reveal increased survival on C57BL/6J in comparison to 129Sv genetic background, Vis Neurosci, 18, (3), 2001, p437-43
A. H. Hobson, M. Donovan, M. M. Humphries, G. Tuohy, N. McNally, R. Carmody, T. Cotter, G. J. Farrar, P. F. Kenna and P. Humphries, Apoptotic photoreceptor death in the rhodopsin knockout mouse in the presence and absence of c-fos, Experimental eye research, 71, (3), 2000, p247-54
B. O'Neill, S. Millington-Ward, M. O'Reilly, G. Tuohy, A. S. Kiang, P. F. Kenna, P. Humphries and G. J. Farrar, Ribozyme-based therapeutic approaches for autosomal dominant retinitis pigmentosa, Investigative ophthalmology & visual science, 41, (10), 2000, p2863-9
N. McNally, P. Kenna, M. M. Humphries, A. H. Hobson, N. W. Khan, R. A. Bush, P. A. Sieving, P. Humphries and G. J. Farrar, Structural and functional rescue of murine rod photoreceptors by human rhodopsin transgene, Human molecular genetics, 8, (7), 1999, p1309-12
S. Millington-Ward, B. O'Neill, A. S. Kiang, P. Humphries, P. F. Kenna and G. J. Farrar, A mutation-independent therapeutic strategem for osteogenesis imperfecta, Antisense & nucleic acid drug development, 9, (6), 1999, p537-42
F. C. Mansergh, S. Millington-Ward, A. Kennan, A. S. Kiang, M. Humphries, G. J. Farrar, P. Humphries and P. F. Kenna, Retinitis pigmentosa and progressive sensorineural hearing loss caused by a C12258A mutation in the mitochondrial MTTS2 gene, American journal of human genetics, 64, (4), 1999, p971-85
N. al-Jandal, G. J. Farrar, A. S. Kiang, M. M. Humphries, N. Bannon, J. B. Findlay, P. Humphries and P. F. Kenna, A novel mutation within the rhodopsin gene (Thr-94-Ile) causing autosomal dominant congenital stationary night blindness, Human mutation, 13, (1), 1999, p75-81
Mansergh F, Meitinger T, Rodolph G, Humphries P, Farrar GJ, Lack of evidence for genetic heterogeneity in Best vitelliform macular dystrophy, JOURNAL OF MEDICAL GENETICS , 35 (1), (JAN), 1998, p85 - 86
Kennan A.M. Mansergh F.C., Fingert J.H., Clark T., Ayuso C., Kenna P.F., Humphries P. and Farrar G.J. , A novel Asp380Ala mutation in the GLC1A/myocilin gene in a family with juvenile onset primary open angle glaucoma, Journal of Medical Genetics, 35, 1998, p957-960
F. C. Mansergh, P. F. Kenna, C. Ayuso, A. S. Kiang, P. Humphries and G. J. Farrar, Novel mutations in the TIGR gene in early and late onset open angle glaucoma, Human mutation, 11, (3), 1998, p244-51
Kenna P., Mansergh F., Millington-Ward S., Erven A., Kumar-Singh R., Brennan R., Farrar G.J. and Humphries P. , Clinical and molecular genetic characterization of a family segregating autosomal dominant retinitis pigmentosa and sensorineural deafness. , British Journal of Ophthalmology, 81, 1997, p207-213
M. M. Humphries, D. Rancourt, G. J. Farrar, P. Kenna, M. Hazel, R. A. Bush, P. A. Sieving, D. M. Sheils, N. McNally, P. Creighton, A. Erven, A. Boros, K. Gulya, M. R. Capecchi and P. Humphries, Retinopathy induced in mice by targeted disruption of the rhodopsin gene, Nature genetics, 15, (2), 1997, p216-9
Millington-Ward S, O'Neill B, Tuohy G, Al-Jandal N, Kiang AS, Kenna PF, Palfi A, Hayden P, Mansergh F, Kennan A, Humphries P, and Farrar GJ., Strategems in vitro for gene therapies directed to dominant mutations., Human Molecular Genetics, 6, (9), 1997, p1415-26
M. M. Humphries, F. C. Mansergh, A. S. Kiang, S. A. Jordan, D. M. Sheils, M. J. Martin, G. J. Farrar, P. F. Kenna, M. M. Young and P. Humphries, Three keratin gene mutations account for the majority of dominant simplex epidermolysis bullosa cases within the population of Ireland, Human mutation, 8, (1), 1996, p57-63
Kenna, P. and Erven, A. and Farrar, G.J. and Kennedy, S. and Samulski, R.J. and Humphries, P. and Oâ Regan, R. and Young, B.J. and Hurley, C. and Hillery, M. and Collum, L.M.T. and Kennedy, S. and McNamara, M. and Kennedy, S. and Fenton, M. and Tormey, P. and Hayes, P. and Condon, P. and Young, B. and Niland, R. and Benedict-Smith, A. and Horgan, T. and Cleary, P.E. and Horan, E. and Dogar, G.F. and Young, B.J. and Ahmad, M.K.T. and Iqbal, F. and Nolan, J. and Iqgal, F. and Ahmad, M.K.T. and Kinsella, F. and Fenton, S. and Horgan, T. and Fenton, M. and Kilmartin, D. and Kenna, P. and Walsh, J. and Mulvihill, A. and Fulcher, T. and Datta, V. and Acheson, R. and Mulhern, M. and Barry, P. and Condon, P. and Mulhern, M. and Barry, P. and Kelly, G. and Collum, A. and Benedict-Smith, A. and Collum, L.M.T. and Tempany, K. and Byrne, M. and Collum, L.M.T. and Henry, E. and Kennedy, S. and Gillan, J. and Minihan, M. and Cleary, P.E. and Coleman, K. and Baak, J.P.A. and van Diest, P.J. and Mullaney, J. and Cahill, M. and Lenehan, P. and Logan, P., Royal academy of medicine in Ireland section of ophthalmology: Proceedings of meeting held 25th November, 1994, Irish Journal of Medical Science, 164, (4), 1995, p303-307
R. Kumar-Singh, D. G. Bradley, G. J. Farrar, M. Lawler, S. A. Jordan and P. Humphries, Autosomal dominant retinitis pigmentosa: a new multi-allelic marker (D3S621) genetically linked to the disease locus (RP4), Human genetics, 96, (4), 1995, p502
F. C. Mansergh, P. F. Kenna, G. Rudolph, T. Meitinger, G. J. Farrar, R. Kumar-Singh, J. Scorer, A. M. Hally, L. Mynett-Johnson and M. M. Humphries, Evidence for genetic heterogeneity in Best's vitelliform macular dystrophy, Journal of medical genetics, 32, (11), 1995, p855-8
van Soest S, van den Born LI, Gal A, Farrar GJ, Bleeker Wagemakers L, Westerveld A, Humphries P, Sandkuijl LA and Bergen A., Assignment of a gene for autosomal recessive retinitis pigmentosa (RP12) to chromosome 1q31-q32 in an inbred and genetically heterogeneous disease population, Genomics, 22, 1994, p499 - 504
Mansergh, F.C., Jordan S.A., Farrar, G.J., Kumar-Singh R., Gal A., Bhattacharya S., and Humphries P., Three sequence polymorphisms in the PDC gene. , Human Molecular Genetics, 3, (11), 1994, p2077
Humphries, P. and Kenna, P. and Farrar, G.J., New dimensions in macular dystrophies, Nature Genetics, 8, (4), 1994, p315-317
G. J. Farrar, P. Kenna, S. A. Jordan, R. Kumar-Singh, M. M. Humphries, E. M. Sharp, D. Sheils and P. Humphries, Autosomal dominant retinitis pigmentosa: a novel mutation at the peripherin/RDS locus in the original 6p-linked pedigree, Genomics, 15, (2), 1993, p466
Humphries, P. and Jane Farrar, G. and Kenna, P., Chapter 10 Autosomal dominant retinitis pigmentosa: Molecular, genetic and clinical aspects, Progress in Retinal Research, 12, (C), 1993, p231-245
R. Kumar-Singh, G. J. Farrar, F. Mansergh, P. Kenna, S. Bhattacharya, A. Gal and P. Humphries, Exclusion of the involvement of all known retinitis pigmentosa loci in the disease present in a family of Irish origin provides evidence for a sixth autosomal dominant locus (RP8), Human molecular genetics, 2, (7), 1993, p875-8
S. A. Jordan, G. J. Farrar, P. Kenna, M. M. Humphries, D. M. Sheils, R. Kumar-Singh, E. M. Sharp, N. Soriano, C. Ayuso, J. Benitez and et al., Localization of an autosomal dominant retinitis pigmentosa gene to chromosome 7q, Nature genetics, 4, (1), 1993, p54-8
M. M. Humphries, D. M. Sheils, G. J. Farrar, R. Kumar-Singh, P. F. Kenna, F. C. Mansergh, S. A. Jordan, M. Young and P. Humphries, A mutation (Met-->Arg) in the type I keratin (K14) gene responsible for autosomal dominant epidermolysis bullosa simplex, Human mutation, 2, (1), 1993, p37-42
Kumar-Singh R, Wang H, Humphries P and Farrar GJ., Autosomal dominant retinitis pigmentosa: no evidence for non-allelic genetic heterogeneity on chromosome 3q, Am. J. Hum. Genet, 52, 1993, p319 - 326
Farrar, G.J. and Kenna, P. and Jordan, S.A. and Kumar-Singh, R. and Humphries, M.M. and Sharp, E.M. and Sheils, D. and Humphries, P., Errata: Autosomal dominant retinitis pignentosa: A novel mutation at the peripherin/RDS locus in the original 6p-linked pedigree (Genomics (1992) 14 3 (805-807)), Genomics, 15, (2), 1993, p466
Jordan SA, Farrar GJ, Kenna P and Humphries P., Polymorphic variation within 'conserved' sequences at the 3, end of the human RDS gene which results in amino acid substitutions, Human Mutation, 1, (3), 1992, p240 - 247
Kumar-Singh R, Kenna P, Farrar GJ and Humphries P. , Evidence for further genetic heterogeneity in autosomal dominant retinitis pigmentosa, Genomics, 15, 1992, p212 - 215
G. J. Farrar, J. B. Findlay, R. Kumar-Singh, P. Kenna, M. M. Humphries, E. Sharpe and P. Humphries, Autosomal dominant retinitis pigmentosa: a novel mutation in the rhodopsin gene in the original 3q linked family, Human molecular genetics, 1, (9), 1992, p769-71
Farrar, G.J. and Jordan, S.A. and Kenna, P. and Humphries, M.M. and Kumar-Singh, R. and McWilliam, P. and Allamand, V. and Sharp, E. and Humphries, P., Erratum: Autosomal dominant retinitis pigmentosa: Localization of a disease gene (RP6) to the short arm of chromosome 6 (Genomics (1991) 11:4 (870-874)), Genomics, 13, (4), 1992, p1384
M. M. Humphries, D. M. Sheils, S. A. Jordan, G. J. Farrar, R. Kumar-Singh and P. Humphries, Alu polymorphism in the human type I Keratin (KRT14) gene, Human molecular genetics, 1, (6), 1992, p453
G. J. Farrar, P. Kenna, S. A. Jordan, R. Kumar-Singh, M. M. Humphries, E. M. Sharp, D. Sheils and P. Humphries, Autosomal dominant retinitis pigmentosa: a novel mutation at the peripherin/RDS locus in the original 6p-linked pedigree, Genomics, 14, (3), 1992, p805-7
S. A. Jordan, G. J. Farrar, R. Kumar-Singh, P. Kenna, M. M. Humphries, V. Allamand, E. M. Sharp and P. Humphries, Autosomal dominant retinitis pigmentosa (adRP; RP6): cosegregation of RP6 and the peripherin-RDS locus in a late-onset family of Irish origin, American journal of human genetics, 50, (3), 1992, p634-9
Humphries P, Kenna P and Farrar GJ, On the molecular genetics of retinitis pigmentosa, Science, 256, 1992, p804 - 808
Inglehern CF, Lester DH, Bashir R, Atif U, Keen J, Sertedaki A, Linksey J, Jay M, Bird AC, Farrar GJ, Humphries P and Bhattacharya SS, Recombination between rhodopsin and locus D3S47 (C17) in rhodopsin linked retinitis pigmentosa families, Am. J. Hum. Genet, 50, 1992, p590
G. J. Farrar, P. Kenna, S. A. Jordan, R. Kumar-Singh, M. M. Humphries, E. M. Sharp, D. M. Sheils and P. Humphries, A three-base-pair deletion in the peripherin-RDS gene in one form of retinitis pigmentosa, Nature, 354, (6353), 1991, p478-80
R. Kumar-Singh, D. G. Bradley, G. J. Farrar, M. Lawler, S. A. Jordan and P. Humphries, Autosomal dominant retinitis pigmentosa: a new multi-allelic marker (D3S621) genetically linked to the disease locus (RP4), Human genetics, 86, (5), 1991, p502-4
G. J. Farrar, S. A. Jordan, P. Kenna, M. M. Humphries, R. Kumar-Singh, P. McWilliam, V. Allamand, E. Sharp and P. Humphries, Autosomal dominant retinitis pigmentosa: localization of a disease gene (RP6) to the short arm of chromosome 6, Genomics, 11, (4), 1991, p870-4
G. J. Farrar, P. Kenna, R. Redmond, D. Shiels, P. McWilliam, M. M. Humphries, E. M. Sharp, S. Jordan, R. Kumar-Singh and P. Humphries, Autosomal dominant retinitis pigmentosa: a mutation in codon 178 of the rhodopsin gene in two families of Celtic origin, Genomics, 11, (4), 1991, p1170-1
G. J. Farrar, P. McWilliam, D. G. Bradley, P. Kenna, M. Lawler, E. M. Sharp, M. M. Humphries, H. Eiberg, P. M. Conneally, J. A. Trofatter and et al., Autosomal dominant retinitis pigmentosa: linkage to rhodopsin and evidence for genetic heterogeneity, Genomics, 8, (1), 1990, p35-40
M. M. Humphries, D. Sheils, M. Lawler, G. J. Farrar, P. McWilliam, P. Kenna, D. G. Bradley, E. M. Sharp, E. F. Gaffney, M. Young and et al., Epidermolysis bullosa: evidence for linkage to genetic markers on chromosome 1 in a family with the autosomal dominant simplex form, Genomics, 7, (3), 1990, p377-81
G. J. Farrar, P. Kenna, R. Redmond, P. McWilliam, D. G. Bradley, M. M. Humphries, E. M. Sharp, C. F. Inglehearn, R. Bashir, M. Jay and et al., Autosomal dominant retinitis pigmentosa: absence of the rhodopsin proline----histidine substitution (codon 23) in pedigrees from Europe, American journal of human genetics, 47, (6), 1990, p941-5
D. G. Bradley, G. J. Farrar, E. M. Sharp, P. Kenna, M. M. Humphries, D. J. McConnell, S. P. Daiger, P. McWilliam and P. Humphries, Autosomal dominant retinitis pigmentosa: exclusion of the gene from the short arm of chromosome 1 including the region surrounding the rhesus locus, American journal of human genetics, 44, (4), 1989, p570-6
P. McWilliam, G. J. Farrar, P. Kenna, D. G. Bradley, M. M. Humphries, E. M. Sharp, D. J. McConnell, M. Lawler, D. Sheils, C. Ryan and et al., Autosomal dominant retinitis pigmentosa (ADRP): localization of an ADRP gene to the long arm of chromosome 3, Genomics, 5, (3), 1989, p619-22
G. J. Farrar, P. McWilliam, E. M. Sharp, P. Kenna, D. G. Bradley, M. M. Humphries, D. J. McConnell and P. Humphries, Autosomal dominant retinitis pigmentosa: exclusion of a gene from extensive regions of chromosomes 6, 13, 20, and 21, Genomics, 5, (3), 1989, p612-8
S. P. Daiger, M. M. Humphries, N. Giesenschlag, E. Sharp, P. McWilliam, J. Farrer, D. Bradley, P. Kenna, D. J. McConnell, R. S. Sparkes and et al., Linkage analysis of human chromosome 4: exclusion of autosomal dominant retinitis pigmentosa (ADRP) and detection of new linkage groups, Cytogenetics and cell genetics, 50, (4), 1989, p181-7
Research Expertise
Recognition
Representations
Member, DMMC Vascular Biology Principal Investigators, DMMC Principal Investigator leading research on Vascular Biology related projects
Member, Core Technology PI's, DMMC Principal Investigators leading the development of core technology platforms.