Professor Gwyneth Farrar
Research Professor, Genetics
Research Professor, Trinity Inst. of Neurosciences (TCIN)
Publications and Further Research Outputs
Peer-Reviewed Publications
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
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
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-
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 -
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, 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
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
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
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
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
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
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
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
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
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
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
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
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, 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
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 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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
Millington-Ward S, McMahon HP, Farrar GJ, Emerging therapeutic approaches for osteogenesis imperfecta, TRENDS IN MOLECULAR MEDICINE, 11, (6), 2005, p299 - 305
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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. 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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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, 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
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
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, 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
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
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
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
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
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.