Peter Humphries
Adjunct Professor, Genetics

Publications and Further Research Outputs

Peer-Reviewed Publications

Tam L.C.S, Reina-Torres E, Sherwood J.M, Cassidy P.S, Crosbie D.E, LÃ"tjen-Drecoll E, FlÃ"gel-Koch C, Perkumas K, Humphries M.M, Kiang A.-S, O'Callaghan J, Callanan J.J, Read A.T, Ethier C.R, O'Brien C, Lawrence M, Campbell M, Stamer W.D, Overby D.R, Humphries P, Enhancement of outflow facility in the murine eye by targeting selected tight-junctions of Schlemm's canal endothelia, Scientific Reports, 7, 2017, p40717- Journal Article, 2017 URL TARA - Full Text DOI

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 - Journal Article, 2016 URL TARA - Full Text DOI

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 Journal Article, 2016 DOI URL

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 - Journal Article, 2015 TARA - Full Text

Doyle SL, López FJ, Humphries P, Adamson P, Campbell M, Author Response: The Role of IL-18 in the Treatment of AMD., Invest Ophthalmol Vis Sci, 56, (3), 2015, p8237-8 Journal Article, 2015 DOI

Tanimoto, N., Sothilingam, V., Kondo, M., (...), Humphries, P., Seeliger, M.W., Electroretinographic assessment of rod- and cone-mediated bipolar cell pathways using flicker stimuli in mice, Scientific Reports, 5, 2015, p10731- Journal Article, 2015 TARA - Full Text DOI

Doyle SL, López FJ, Celkova L, Brennan K, Mulfaul K, Ozaki E, Kenna PF, Kurali E, Hudson N, Doggett T, Ferguson TA, Humphries P, Adamson P, Campbell M, IL-18 Immunotherapy for Neovascular AMD: Tolerability and Efficacy in Nonhuman Primates., Invest Ophthalmol Vis Sci, 56, (9), 2015, p5424-30 Journal Article, 2015 DOI

Doyle, S.L., Adamson, P., López, F.J., Humphries, P., Campbell, M. , Interleukin-18 bioactivity and dose: Data interpretation at a crossroads, Investigative Ophthalmology and Visual Science, 55, (12), 2014, p8349 Journal Article, 2014 DOI

Doyle, SL, Ozaki, E, Brennan, K, Humphries, MM, Mulfaul, K, Keaney, J, Kenna, PF, Maminishkis, A, Kiang, AS, Saunders, SP, Hams, E, Lavelle, EC, Gardiner, C, Fallon, PG, Adamson, P, Humphries, P, Campbell, M, IL-18 Attenuates Experimental Choroidal Neovascularization as a Potential Therapy for Wet Age-Related Macular Degeneration, SCIENCE TRANSLATIONAL MEDICINE, 6, 2014, p230- Journal Article, 2014 TARA - Full Text DOI

Campbell, M., Doyle, S.L., Ozaki, E., (...), Humphries, M.M., Humphries, P. , An overview of the involvement of interleukin-18 in degenerative retinopathies., Advances in experimental medicine and biology, 801, 2014, p409-415 Journal Article, 2014 DOI

Daiger, S.P., Bowne, S.J., Sullivan, L.S., (...), Chen, R., Li, Y. , Application of next-generation sequencing to identify genes and mutations causing autosomal dominant retinitis pigmentosa (adRP)., Advances in experimental medicine and biology, 801, 2014, p123-129 Journal Article, 2014 DOI

Ozaki, E., Campbell, M., Kiang, A.S., (...), Doyle, S.L., Humphries, P. , Inflammation in age-related macular degeneration., Advances in experimental medicine and biology, 801, 2014, p229-235 Journal Article, 2014 DOI

Nguyen, A.T., Campbell, M., Kiang, A.S., Humphries, M.M., Humphries, P. , Current therapeutic strategies for P23H RHO-linked RP., Advances in experimental medicine and biology, 801, 2014, p471-476 Journal Article, 2014 DOI

Tanimoto, N., Sothilingam, V., Gloeckner, G., (...), Biel, M., Seeliger, M.W. , Auditory event-related signals in mouse ERG recordings, Documenta Ophthalmologica, 128, (1), 2014, p25-32 Journal Article, 2014 DOI

Kiang, A.S., Humphries, M.M., Campbell, M., Humphries, P. , Antioxidant therapy for retinal disease., Advances in experimental medicine and biology, 801, 2014, p783-789 Journal Article, 2014 DOI

Campbell, M., Doyle, S., Humphries, P. , IL-18: A new player in immunotherapy for age-related macular degeneration?, Expert Review of Clinical Immunology, 10, (10), 2014, p1273-1275 Journal Article, 2014 DOI

Campbell M, Humphries MM, Humphries P, Barrier modulation in drug delivery to the retina., Methods in molecular biology (Clifton, N.J.), 935, 2013, p371-80 Journal Article, 2013 DOI

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 Journal Article, 2013 DOI

Hanrahan F, Campbell M, Nguyen AT, Suzuki M, Kiang AS, Tam LC, Gobbo OL, Dhubhghaill SN, Humphries MM, Kenna PF, Humphries P, On further development of barrier modulation as a technique for systemic ocular drug delivery., Advances in experimental medicine and biology, 723, 2012, p155-9 Journal Article, 2012

Hanrahan, F, Campbell, M, Nguyen, AT, Suzuki, M, Kiang, AS, Tam, LC, Gobbo, OL, Dhubhghaill, SN, Humphries, MM, Kenna, PF, Humphries, P, LaVail, MM, Ash, JD, Anderson, RE, Hollyfield, JG, Grimm, C, On Further Development of Barrier Modulation as a Technique for Systemic Ocular Drug Delivery, RETINAL DEGENERATIVE DISEASES, 723, 2012, p155-159 Journal Article, 2012 DOI

Campbell M, Humphries P, The blood-retina barrier: tight junctions and barrier modulation., Advances in experimental medicine and biology, 763, 2012, p70-84 Journal Article, 2012 DOI

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 Journal Article, 2012 DOI TARA - Full Text

Fischer MD, Huber G, Paquet-Durand F, Humphries P, Redmond TM, Grimm C, Seeliger MW, In vivo assessment of rodent retinal structure using spectral domain optical coherence tomography., Advances in experimental medicine and biology, 723, 2012, p489-94 Journal Article, 2012

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 Journal Article, 2012 DOI

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 Journal Article, 2012 DOI

Nguyen AT, Campbell M, Kenna PF, Kiang AS, Tam L, Humphries MM, Humphries P, Calpain and photoreceptor apoptosis., Advances in experimental medicine and biology, 723, 2012, p547-52 Journal Article, 2012 DOI

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 Journal Article, 2012 DOI

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 Journal Article, 2012

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 Journal Article, 2012 DOI

Campbell M, Hanrahan F, Gobbo OL, Kelly ME, Kiang AS, Humphries MM, Nguyen AT, Ozaki E, Keaney J, Blau CW, Kerskens CM, Cahalan SD, Callanan JJ, Wallace E, Grant GA, Doherty CP, Humphries P, Targeted suppression of claudin-5 decreases cerebral oedema and improves cognitive outcome following traumatic brain injury., Nature communications, 3, 2012, p849 Journal Article, 2012 DOI

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 Journal Article, 2011 DOI

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 Miscellaneous, 2011 DOI

Keaney J, Campbell M, Humphries P, From RNA interference technology to effective therapy: how far have we come and how far to go?, Therapeutic delivery, 2, (11), 2011, p1395-406 Journal Article, 2011 DOI

Campbell M, Humphries P, Size-selective and in vitro assessment of inner blood retina barrier permeability., Methods in molecular biology (Clifton, N.J.), 763, 2011, p355-67 Journal Article, 2011 DOI

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 Journal Article, 2011 TARA - Full Text

Seeliger, M.W., Brombas, A., Weiler, R., Humphries, P., Knop, G., Tanimoto, N., Müller, F., Modulation of rod photoreceptor output by HCN1 channels is essential for regular mesopic cone vision, Nature Communications, 2, (1), 2011, part. no. 532 Journal Article, 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 Journal Article, 2011 TARA - Full Text

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 Journal Article, 2010 DOI

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 Journal Article, 2010 Other DOI

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 Journal Article, 2010 DOI

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 Journal Article, 2010 DOI

Campbell M, Ozaki E, Humphries P, Systemic delivery of therapeutics to neuronal tissues: a barrier modulation approach., Expert Opinion on Drug Delivery, 7, (7), 2010, p859-69 Journal Article, 2010 DOI

Ni Dhubhghaill SS, Cahill MT, Campbell M, Cassidy L, Humphries MM, Humphries P, The pathophysiology of cigarette smoking and age-related macular degeneration., Advances in Experimental Medicine and Biology, 664, (Part 4), 2010, p437-46 Journal Article, 2010 DOI

Hanrahan, F., Humphries, P., Campbell, M., RNAi-mediated barrier modulation: Synergies of the brain and eye, Therapeutic Delivery , 1, (4), 2010, p587-594 Journal Article, 2010 DOI

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 Journal Article, 2010 TARA - Full Text

Jaissle, G.B., Albrecht May, C., Van De Pavert, S.A., Wenzel, A., Claes-May, E., Giel, A., Szurman, P., (...), Seeliger, M.W. , Erratum: Bone spicule pigment formation in retinitis pigmentosa: Insights from a mouse model (Graefe's Archive for Clinical and Experimental Ophthalmology DOI: 10.1007/s00417-009-1253-9), 2010, - 1365 Miscellaneous, 2010

Busskamp, V., Duebel, J., Balya, D., Fradot, M., Viney, T.J., Siegert, S., Groner, A.C., (...), Roska, B., Genetic reactivation of cone photoreceptors restores visual responses in retinitis pigmentosa, Science, 329, (5990), 2010, 413-417 Journal Article, 2010

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 Journal Article, 2010 DOI

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 Journal Article, 2009 TARA - Full Text DOI

Huber G, Beck SC, Grimm C, Sahaboglu-Tekgoz A, Paquet-Durand F, Wenzel A, Humphries P, Redmond TM, Seeliger MW, Fischer MD, Spectral domain optical coherence tomography in mouse models of retinal degeneration., Investigative Ophthalmology & Visual Science, 50, (12), 2009, p5888-5895 Journal Article, 2009 DOI

Jaissle GB, May CA, van de Pavert SA, Wenzel A, Claes-May E, Gießl A, Szurman P, Wolfrum U, Wijnholds J, Fisher MD, Humphries P, Seeliger MW, Bone spicule pigment formation in retinitis pigmentosa: insights from a mouse model., Graefe's Archive for Clinical and Experimental Ophthalmology = Albrecht von Graefes Archiv fur klinische und experimentelle Ophthalmologie, 2009 Journal Article, 2009 DOI

Bujakowska KM, Maubaret C, Chakarova CF, Tanimoto N, Beck SC, Fahl E, Humphries MM, Kenna P, Makarov E, Makarova O, Paquet-Durand F, Ekström P, van Veen T, Leveillard T, Humphries P, Seeliger M, Bhattacharya SS, Study of gene targeted mouse models of splicing factor gene Prpf31 implicated in human autosomal dominant retinitis pigmentosa (RP), Investigative Ophthalmology & Visual Science, 50, (12), 2009 Journal Article, 2009 DOI

Humphries PS, Lafontaine JA, Agree CS, Alexander D, Chen P, Do QQ, Li LY, Lunney EA, Rajapakse RJ, Siegel K, Timofeevski SL, Wang T, Wilhite DM, Synthesis and SAR of 4-substituted-2-aminopyrimidines as novel c-Jun N-terminal kinase (JNK) inhibitors., Bioorganic and Medicinal Chemistry Letters, 19, (8), 2009, p2099-102 Journal Article, 2009

Tanimoto, N, Muehlfriedel, RL, Fischer, MD, Fahl, E, Humphries, P, Biel, M, Seeliger, MW, Vision tests in the mouse: Functional phenotyping with electroretinography., Frontiers in Bioscience : A Journal and Virtual Library, 14, 2009, p2730 - 2737 Journal Article, 2009 DOI

Balan G, Bauman J, Bhattacharya S, Castrodad M, Healy DR, Herr M, Humphries P, Jennings S, Kalgutkar AS, Kapinos B, Khot V, Lazarra K, Li M, Li Y, Neagu C, Oliver R, Piotrowski DW, Price D, Qi H, Simmons HA, Southers J, Wei L, Zhang Y, Paralkar VM, The discovery of novel calcium sensing receptor negative allosteric modulators., Bioorganic & Medicinal Chemistry Letters, 19, (12), 2009, p3328-32 Journal Article, 2009 DOI

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 Journal Article, 2009 DOI

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 Journal Article, 2008

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 Journal Article, 2008 TARA - Full Text DOI

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 Journal Article, 2008 TARA - Full Text DOI

U. Bartsch, W. Oriyakhel, P. Kenna, S. Linke, G. Richard, B. Petrowitz, P. Humphries, J. Farrar, M. Ader, Retinal cells integrate into the outer nuclear layer and differentiate into mature photoreceptors after sub-retinal transplantation into adult mice, Experimental Eye Research, 86, (4), 2008, p691 - 700 Journal Article, 2008

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 Journal Article, 2008 DOI

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 Journal Article, 2008 DOI

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 Journal Article, 2008 DOI

D. Allen, E. Winters, P. Kenna, P. Humphries, J. Farrar, Reference gene selection for real-time rtPCR in human epidermal keratinocytes, Journal of Dermatological Science, 49, (3), 2008, p217 - 225 Journal Article, 2008

A. Reynolds, G.J. Farrar, P. Humphries, P. Kenna, Variation in the electroretinogram of C57BL/6J sub-strains of mouse, Advances in Experimental Medical Biology, 613, 2008, p383 - 391 Journal Article, 2008

Trümpler, J, Dedek, K, Schubert, T, de Sevilla Müller, LP, Seeliger, M, Humphries, P, Biel, M, Weiler, R, Rod and cone contributions to horizontal cell light responses in the mouse retina., The Journal of Neuroscience, 28, (27), 2008, p6818-6825 Journal Article, 2008 TARA - Full Text DOI

D. Allen, P.F. Kenna, A. Palfi, H.P. McMahon, S. Millington-Ward, M. O'Reilly, P. Humphries and G.J. Farrar, Development of strategies for conditional RNA interference, Journal of Gene Medicine, 9, (4), 2007, p287 - 98 Journal Article, 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 Journal Article, 2007 TARA - Full Text DOI

Campbell, M, Humphries, M, Kenna, P, Humphries, P, Brankin, B, Altered expression and interaction of adherens junction proteins in the developing OLM of the Rho(-/-) mouse., Experimental Eye Research, 85, (5), 2007, p714-720 Journal Article, 2007 DOI

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 Journal Article, 2007 DOI

Palfi A, Kiang A-S, O'Reilly M, Millington-Ward S, Kenna P, Humphries P and Farrar GJ, RNAi-based suppression and replacement of RDS-Peripherin in retinal organotypic culture, Human Mutation, 27, (3), 2006, p260 - 268 Journal Article, 2006

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 Journal Article, 2006

Campbell M, Humphries MM, Kennan A, Kenna PF, Humphries P and Brankin B., Aberrant Retinal Tight Junction and Adherens junction protein expression in an animal model of autosomal recessive retinitis pigmentosa: The Rho (-/-) mouse, Exp. Eye Res, 83, (3), 2006, p484 - 492 Journal Article, 2006

De Goover TE, Stevenson KA, Humphries P, Simpson DA, Curtis TM, Gardiner TA and Stitt AW., Rod photoreceptor loss in Rho-/- mice reduces retinal hypoxia and hypoxia-regulated gene expression, Invest Ophthalmol Vis Sci, 47, (12), 2006, p5553 - 5560 Journal Article, 2006

De Goover TE, Stevenson KA, Humphries P, Simpson DA, Gardiner TA and Stitt AW, Retinopathy is reduced during experimental diabetes in a mouse model of outer retinal degeneration, Invest Ophthalmol Vis Sci., 47, (12), 2006, p5561 - 5568 Journal Article, 2006

Haverkamp S, Michalakis S, Claes E, Seeliger MW, Humphries P, Biel M and Feigenspan A., Synaptic plasticity in GNGA3-/- mice: Cone bipolar cells react up0onthe missing cone input and form ectopic synapses with rods, Journal of Neuroscience, 26, (19), 2006, p5248 - 5255 Journal Article, 2006 TARA - Full Text DOI

Molecular mechanisms of photoreceptor degeneration in RP caused by IMPDH1 mutations in, editor(s)Joe G. Hollyfield, Robert E. Anderson, and Matthew M. LaVail , Retinal Degenerative Diseases, New York, NY, Springer, 2005, [Aherne. A., Kennan. A., Kenna, P.F, McNally, N., Farrar, G.J, Humphries, P.] Book Chapter, 2005

Kennan A, Aherne and Humphries P, Light in retinitis pigmentosa, Trends in Genetics, 21, (2), 2005, p103 - 110 Journal Article, 2005

Kiang A-S, Palfi A, Ader M, Kenna PF, Millington-Ward, Clark G, Kennan A, O'Reilly M, Tam LCT, Aherne A, McNally N, Humphries P and 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 Journal Article, 2005

Rohrer B, Lohr HR, Humphries P, Redmond MT, Seeliger MW and Crouch RK, Cone opsin mislocalization in Rpe65-/- mice: A defect that can be corrected by 11-cis retinal, Investigative Ophthalmology and Visual Science, 46, (10), 2005, p3876 - 3881 Journal Article, 2005 TARA - Full Text DOI

Schmucker C, Seeliger M, Humphries P, Biel M and Schaeffel F, Grating acuity at different luminances in wild-type mice and in mice lacking rod or cone function, Invest Ophthalmol Vis Sci, 46, (1), 2005, p398 - 407 Journal Article, 2005

Millington-Ward SM, McMahon HP, Allen D, Tuohy G, Kiang A-S, Palfi A, Kenna PF, Humphries P and GJ Farrar, RNAi of COL1A1 in mesenchymal progenitor cells, European Journal of Human Genetics, 12, (10), 2004, p864 - 866 Journal Article, 2004 TARA - Full Text DOI

Barnard AR, Appleford JM, Sekaran S, Chinthapalli K, Jenkens A, Seeliger M, Biel M, Humphries P, Douglas RH, Wenzel A, Foster RG, Hankins MW and Lucas RJ, Residual photosensitivity in mice lacking both rod opsin and cone photoreceptor cyclic nucleotide gated channel 3 alpha subunit, Visual Neuroscience, 21, 2004, p675 - 683 Journal Article, 2004

Aherne A, Kennan A, Kenna PF, McNally N, Lloyd DG, Alberts IL, Kaing A-S, Humphries MM, Ayuso C, Engel PC, Gu JJ, Mitchell BS, Farrar GJ and Humphries P., On the molecular pathology of neurodegeneration in IMPDH1-based retinitis pigmentosa, HUMAN MOLECULAR GENETICS, 13, (6), 2004, p641 - 650 Journal Article, 2004

Aherne A, Kennan A, Kenna PF, McNally N, Lloyd DG, Alberts IL, Kaing A-S, Humphries MM, Ayuso C, Engel PC, Gu JJ, Mitchell BS, Farrar GJ and Humphries P., On the molecular pathology of neurodegeneration in IMPDH1-based retinitis pigmentosa, Hum Mol Genet, 13, (6), 2004, p641 - 650 Journal Article, 2004

Claes E, Seeliger M, Michalakis S, Biel M, Humphries P and Haverkamp S, Morphological characterization of the retina of the CNGA3(-/-)Rho(-/-) mutant mouse lacking functional cones and rods, Investigative Ophthalmology and Visual Science., 45, (6), 2004, p2039 - 2048 Journal Article, 2004 DOI TARA - Full Text

Keegan D, Kenna PF, Humphries MM, Humphries P, Flitcroft DI, Coffey PJ, Lund RD and Lawrence JM, Transplantation of syngeneic schwann cells to the retina of the rhodopsin knockout (Rho-/-) mouse, Investigative Ophthalmology and Visual Science, 44, (8), 2003, p3526 - 3532 Journal Article, 2003 DOI TARA - Full Text

Kerman A, Aherne A, Bowne SJ, Daiger SP, Farrar GJ, Kenna PF, Humphries P, On the role of IMPDH1 in retinal degeneration, RETINAL DEGENERATIONS: MECHANISMS AND EXPERIMENTAL THERAPY ADVANCES IN EXPERIMENTAL MEDICINE AND BIOLOGY, 533, 2003, p13 - 18 Journal Article, 2003

Kennan, A, Aherne A, Bowne SJ, Daiger SP, Farrar GJ, Kenna PF and Humphries P., On the role of IMPDH1 in retinal degeneration. Retinal Degenerations: Mechanisms and Experimental Therapy, Kluwer Academic, Plenum Publishers, 2003 Book, 2003

Daiger SP, Sullivan LS, Bowne SJ, Kennan A, Humphries P, Birch DG, Heckenlively JR, RP1 Consortium. Identification of the RP1 and RP10 (IMPDH1) genes causing autosomal dominant RP, Advances in Experimental Medicine and Biology , 533, 2003, p1 - 11 Journal Article, 2003 TARA - Full Text

Bowne SJ, Daiger SP, Malone KA, Heckenlively JR, Kennan A, Humphries P, Hughbanks-Wheaton D, Birch DG, Liu Q, Pierce EA, Zuo J, Huang Q, Donovan DD, and Sullivan LS, Characterization of RP1L1, a highly polymorphic paralog of the retinitis pigmentosxa 1 (RP1) gene, Molecular Vision, 24, (9), 2003, p129 - 137 Journal Article, 2003 TARA - Full Text

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 Journal Article, 2002 TARA - Full Text URL

Kennan A, Aherne A, Palfi A, Humphries MM, Stitt A, Simpson D, Demtroder K, Orntoft T. Ayuso C, Kenna PF, Farrar GJ and Humphries P. , 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 Mol Genet, 11, (5), 2002, p547 - 558 Journal Article, 2002

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 Journal Article, 2002 TARA - Full Text

KENNAN, A, AHERNE, A, PALFI, A, HUMPHRIES, M, MCKEE, A, STITT, A, SIMPSON, DAC, DEMTRODER, K, ORNTOFT, T, AYUSO, C, KENNA, PF, FARRAR, GJ, HUMPHRIES, P, 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, 2002, p547 - 557 Journal Article, 2002

McNally N, Kenna P, Rancourt D, Ahmed T, Stitt A, Colledge W, Llyod D, O'Neill B, Humphries MM, Humphries P and Farrar GJ, Dominant retinopathy induced in mice by targeted single base deletion at codon 307 of the rds-pheripherin gene, Hum Mol Genet, 11, (9), 2002, p1005 - 1016 Journal Article, 2002

Tuohy, G, Kenna P, Humphries P and Farrar GJ., Baculoviral p35 inhibition of apoptosis in 661W cone photoreceptor cells, Invest Ophthalmol Vis Sci, 43, (11), 2002, p3583 - 3589 Journal Article, 2002

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 Journal Article, 2002 TARA - Full Text

Farrar GJ, Kenna P and Humphries P., Molecular genetics of Retinitis Pigmentosa: mutation independent approaches to therapy, EMBO, 21, (5), 2002, p857 - 864 Journal Article, 2002

Millington-Ward S, Allers C, Tuohy G, Conget P, Allen D, McMahon HP, Kenna PF, Humphries P and Farrar GJ, Validation in human mesenchymal progenitor cells of a mutation-independent ex vivo approach to gene therapy for Osteogenesis Imperfecta, Hum Mol Genet, 11, (19), 2002, p2201 - 2206 Journal Article, 2002

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 Review, 2002 TARA - Full Text

HUMPHRIES, MM, KIANG, S, MCNALLY, N, DONOVAN, MA, SIEVING, P, BUSH, RA, MACHIDA, S, COTTER, T, HOBSON, A, FARRAR, J, HUMPHRIES, P, KENNA, P, COMPARATIVE STRUCTURAL AND FUNCTIONAL ANALYSIS OF PHOTORECEPTOR NEURONS OF RHO-/- MICE REVEAL INCREASED SURVIVAL ON C57BL/6J IN COMPARISON TO 129SV GENETIC BACKGROUND, VISUAL NEUROSCIENCE, 18, 2001, p437 - 443 Journal Article, 2001

Humphries MM, Kiang S, McNally N, Donovan M, Sieving PA, Bush RA, Machida S, Cotter T, Hobson A, Farrar GJ, Humphries P and Kenna P., Comparative structural and functional analysis of photoreceptor neurones of Rho-/- mouse reveal increased survival on C57BL/6J in comparison to 129Sv genetic background, Vis Neurosci, 18, 2001, p437 - 443 Journal Article, 2001

SEELIGER, MW, GRIMM, C, STAHLBERG, F, FRIEDBURG, C, JAISSLE, G, ZRENNER, E, GUO, H, REME, CE, HUMPHRIES, P, HOFMANN, F, BIEL, M, FARISS, RN, REDMOND, TM, WENZEL, A, NEW VIEWS ON RPE65 DEFICIENCY: THE ROD SYSTEM IS THE SOURCE OF VISION IN A MOUSE MODEL OF LEBER CONGENITAL AMAUROSIS, NATURE GENETICS, 29, 2001, p70 - 74 Journal Article, 2001

OREILLY, M, IN VIVO SELECTION FROM A PHAGE DISPLAY LIBRARY OF PEPTIDES CAPABLE OF TARGETING THE RETINA., unknown, 2001, 69, ISI Web of Science, 2001, pp677 Meeting Abstract, 2001

FARRAR, GJ, MUTATION-INDEPENDENT THERAPEUTIC STRATEGIES FOR OSTEOGENESIS IMPERFECTA., unknown, 2001, 69, ISI Web of Science, 2001, pp675 - 675 Meeting Abstract, 2001

Seeliger M, Grimm C, Stahlberg F, Frieburg C, Jassle G, Zrenner E, Gue H, Reme C, Humphries P, Hofman F, Biel M, Fariss R, Redmond T and Wenzel A., New views on RPE65 deficiency: the rod system is the source of vision in a mouse model of Leber congenital amaurosis, Nature Genet, 29, (1), 2001, p70 - 74 Journal Article, 2001

TUOHY, G, INHIBITION OF CASPASE ACTIVITY AND PREVENTION OF APOPTOSIS IN 661W CONE PHOTORECEPTOR CELLS., unknown, 2001, 69, ISI Web of Science, 2001, pp678 - 678 Meeting Abstract, 2001

ONEILL, BG, MUTATION-INDEPENDENT RIBOZYME-BASED THERAPIES FOR RETINITIS PIGMENTOSA., unknown, 2001, 69, ISI Web of Science, 2001, pp677 - 677 Meeting Abstract, 2001

BOWNE, SJ, SULLIVAN, LS, DING, L, TRAER, E, PRESCOTT, SM, BIRCH, DG, KENNAN, A, HUMPHRIES, P, DAIGER, SP, EVALUATION OF HUMAN DIACYLGLYCEROL KINASE, DGKI, A HOMOLOG OF DROSOPHILA RDGA, IN INHERITED RETINOPATHY MAPPING TO 7Q, MOLECULAR VISION, 6, 2000, p6 - 9 Journal Article, 2000

Browne, SJ, Sullivan LS, Ding L, Traer E, Prescott SM, Birch DG, Kennan A, Humphries P and Daiger SP, Evaluation of human diacylglycerol kinase(iota), DGKI, a homolog of Drosophila rdgA, in inherited retinopathy mapping to 7q, Mol Vis, 22, (6), 2000, p6 - 9 Journal Article, 2000

MILLINGTON-WARD, S, ONEILL, B, KIANG, AS, HUMPHRIES, P, KENNA, PF, FARRAR, GJ, A MUTATION-INDEPENDENT THERAPEUTIC STRATEGEM FOR OSTEOGENESIS IMPERFECTA, ANTISENSE & NUCLEIC ACID DRUG DEVELOPMENT, 9, 2000, p537 - 542 Journal Article, 2000

O'Neill B, Millington-Ward S, O'Reilly M, Tuohy G, Kiang A-S, Kenna P, Humphries P and Farrar GJ., Ribozyme based therapeutic approaches for autosomal dominant Retinitis Pigmentosa, Invest Ophthalmol Vis Sci, 41, 2000, p2863 - 2869 Journal Article, 2000

HOBSON, AH, DONOVAN, M, HUMPHRIES, MM, TUOHY, G, MCNALLY, N, CARMODY, R, COTTER, T, FARRAR, GJ, KENNA, PF, HUMPHRIES, P, APOPTOTIC PHOTORECEPTOR DEATH IN THE RHODOPSIN KNOCKOUT MOUSE IN THE PRESENCE AND ABSENCE OF C-FOS, EXPERIMENTAL EYE RESEARCH, 71, 2000, p247 - 254 Journal Article, 2000

BOWNE, SJ, SEARCHING FOR THE RP10 GENE: A MODEL FOR POSITIONAL CANDIDATE CLONING IN THE POST GENOME ERA., unknown, 2000, 67, ISI Web of Science, 2000, pp255 - 255 Meeting Abstract, 2000

ONEILL, B, MILLINGTON-WARD, S, OREILLY, M, TUOHY, G, KIANG, AS, KENNA, PF, HUMPHRIES, P, FARRAR, GJ, RIBOZYME-BASED THERAPEUTIC APPROACHES FOR AUTOSOMAL DOMINANT RETINITIS PIGMENTOSA, INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE, 41, 2000, p2863 - 2869 Journal Article, 2000

Mansergh FC, Millington-Ward S, Kennan A, Kiang A-S, Humphries MM, Farrar GJ, Humphries P and Kenna PF., Retinitis pigmentosa and progressive sensorineural hearing loss caused by a C12258A mutation in the mitochondrial MTTS2 gene, Am J of Hum Genet, 64, 1999, p971 - 985 Journal Article, 1999

Millington-Ward S, O'Neill B, Kiang A-S, Humphries P, Kenna PF and Farrar GJ. , A mutation-independent therapeutic stratagem for osteogenesis imperfecta, Antisense Nucleic Acids Drug Dev, 9, (6), 1999, p537 - 542 Journal Article, 1999

MCNALLY, N, KENNA, P, HUMPHRIES, MM, HOBSON, AH, KHAN, NW, BUSH, RA, SIEVING, PA, HUMPHRIES, P, FARRAR, GJ, STRUCTURAL AND FUNCTIONAL RESCUE OF MURINE ROD PHOTORECEPTORS BY HUMAN RHODOPSIN TRANSGENE, HUMAN MOLECULAR GENETICS, 8, 1999, p1309 - 1312 Journal Article, 1999

TODA, K, BUSH, RA, HUMPHRIES, P, SIEVING, PA, THE ELECTRORETINOGRAM OF THE RHODOPSIN KNOCKOUT MOUSE, VISUAL NEUROSCIENCE, 16, 1999, p391 - 398 Journal Article, 1999

MANSERGH, FC, MILLINGTON-WARD, S, KENNAN, A, KIANG, AS, HUMPHRIES, M, FARRAR, GJ, HUMPHRIES, P, KENNA, PF, RETINITIS PIGMENTOSA AND PROGRESSIVE SENSORINEURAL HEARING LOSS CAUSED BY A C12258A MUTATION IN THE MITOCHONDRIAL MTTS2 GENE, AMERICAN JOURNAL OF HUMAN GENETICS, 64, 1999, p971 - 985 Journal Article, 1999

AL-JANDAL, N, FARRAR, GJ, KIANG, AS, HUMPHRIES, MM, BANNON, N, FINDLAY, JBC, HUMPHRIES, P, KENNA, PF, A NOVEL MUTATION WITHOUT THE RHODOPSIN GENE (THR-94-ILE) CAUSING AUTOSOMAL DOMINANT CONGENITAL STATIONARY NIGHT BLINDNESS, HUMAN MUTATION, 13, 1999, p75 - 81 Journal Article, 1999

TUOHY, GP, IN VIVO ANALYSIS OF PHOTORECEPTOR DEGENERATION IN LIGHT-INDUCECD LACA MICE AND IN VITRO RIBOZYME CLEAVAGE OF KEY MRNA TARGETS INVOLVED IN APOPTOTIC MEDIATED CELL DEATH. IN VIVOLN VITRO., unknown, 1999, 65, ISI Web of Science, 1999, ppA503 - A503 Meeting Abstract, 1999

McNally N, Kenna P, Humphries MM, Hobson AH, Khan NN, Bush RA, Sieving PA, Humphries P and Farrar GJ., Structural and functional rescue of murine rod photoreceptors by human rhodopsin transgene, Human Mol Genet, 8, 1999, p1309 - 1312 Journal Article, 1999

KENNAN, AM, MANSERGH, FC, FINGERT, JH, CLARK, T, AYUSO, C, KENNA, PF, HUMPHRIES, P, FARRAR, GJ, 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 Journal Article, 1998

MANSERGH, FC, KENNA, PF, AYUSO, C, KIANG, AS, HUMPHRIES, P, FARRAR, GJ, NOVEL MUTATIONS IN THE TIGR GENE IN EARLY AND LATE ONSET OPEN ANGLE GLAUCOMA, HUMAN MUTATION, 11, 1998, p244 - 251 Journal Article, 1998

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 Journal Article, 1998

MANSERGH, FC, TWO NOVEL MUTATIONS IN THE TIGR GENE IN PRIMARY OPEN ANGLE GLAUCOMA., unknown, 1997, 61, ISI Web of Science, 1998, ppA339 - A339 Meeting Abstract, 1998

MILLINGTON-WARD, S, THREE STRATEGIES EXPLORED IN VITRO FOR GENE THERAPY OF DOMINANT AND POLYGENIC DISEASES., unknown, 1997, 61, ISI Web of Science, 1998, ppA357 - A357 Meeting Abstract, 1998

BUSH, RA, PHOTORECEPTOR MORPHOLOGY IN RHODOPSIN KNOCKOUT MICE, unknown, 1997, 38, ISI Web of Science, 1997, pp3247 - 3247 Meeting Abstract, 1997

TODA, K BUSH, RA HUMPHRIES, MM FARRER, GJ KENNA, P HUMPHRIES, P, SIEVING, PA, ERG OF THE RHODOPSIN KNOCKOUT MOUSE, INVESTIGATIVE OPHTHALMOLOGY AND VISUAL SCIENCE, 38, 1997, p4135 Journal Article, 1997

TODA, K, ERG OF THE RHODOPSIN KNOCKOUT MOUSE., unknown, 1997, 38, ISI Web of Science, 1997, pp4135 - 4135 Meeting Abstract, 1997

BUSH, RA HUMPHRIES, P HUMPHRIES, MM FARRAR, GJ KENNA, P SIEVING, PA , PHOTORECEPTOR MORPHOLOGY IN RHODOPSIN KNOCKOUT MICE, INVESTIGATIVE OPHTHALMOLOGY AND VISUAL SCIENCE, 38, 1997, p3247 Journal Article, 1997

GARDINER, N, LAWLER, M, ORIORDAN, J, DEARCE, M, HUMPHRIES, P, MCCANN, SR, PERSISTENT DONOR CHIMAERISM IS CONSISTENT WITH DISEASE-FREE SURVIVAL FOLLOWING BMT FOR CHRONIC MYELOID LEUKAEMIA, BONE MARROW TRANSPLANTATION, 20, 1997, p235 - 241 Journal Article, 1997

HUMPHRIES, MM, RETINOPATHY INDUCED IN MICE BY TARGETED DISRUPTION OF THE RHODOPSIN GENE, NATURE GENETICS, 15, 1997, p216 - 219 Journal Article, 1997

KENNA, P, MANSERGH, F, MILLINGTONWARD, S, ERVEN, A, KUMARSINGH, R, BRENNAN, R, FARRAR, GJ, HUMPHRIES, P, CLINICAL AND MOLECULAR GENETIC CHARACTERISATION OF A FAMILY SEGREGATING AUTOSOMAL DOMINANT RETINITIS PIGMENTOSA AND SENSORINEURAL DEAFNESS, BRITISH JOURNAL OF OPHTHALMOLOGY, 81, 1997, p207 - 213 Journal Article, 1997

MILLINGTONWARD, S, ONEILL, B, TUOHY, G, ALJANDAL, N, KIANG, AS, KENNA, PF, PALFI, A, HAYDEN, P, MANSERGH, F, KENNAN, A, HUMPHRIES, P, FARRAR, GJ, STRATEGEMS IN VITRO FOR GENE THERAPIES DIRECTED TO DOMINANT MUTATIONS, HUMAN MOLECULAR GENETICS, 6, 1997, p1415 - 1426 Journal Article, 1997

Humphries MM, Rancourt D, Farrar GJ, Kenna P, Hazel M, Bush RA, Sieving PA, Sheils DM, McNally N, Creighton P, Erven A, Boros A, Gulya K, Capecchi MR and Humphries P., Retinopathy induced in mice by targeted disruption of the rhodopsin gene, Nature Genetics, 15, 1997, p216 - 219 Journal Article, 1997

MARTIN, M, TREATMENT OF RETINOBLASTOMA ARISING IN TRANSGENIC MICE WITH A HSV-1 DELETION MUTANT VIRUS., unknown, 1996, 3, ISI Web of Science, 1997, ppP42 - P42 Meeting Abstract, 1997

MCGUIRE, RE, JORDAN, SA, BRADEN, VV, BOUFFARD, GG, HUMPHRIES, P, GREEN, ED, DAIGER, SP, MAPPING THE RP10 LOCUS FOR AUTOSOMAL DOMINANT RETINITIS PIGMENTOSA ON 7Q: REFINED GENETIC POSITIONING AND LOCALIZATION WITHIN A WELL-DEFINED YAC CONTIG, GENOME RESEARCH, 6, 1996, p255 - 266 Journal Article, 1996

MANSERGH, F, HUMPHRIES, P, FARRAR, J, STILL NO EVIDENCE FOR HETEROGENEITY IN BEST'S VITELLIFORM MACULAR DYSTROPHY - REPLY, JOURNAL OF MEDICAL GENETICS, 33, 1996, 630 - 630 Miscellaneous, 1996

HUMPHRIES, MM, MANSERGH, FC, KIANG, AS, JORDAN, SA, SHEILS, DM, MARTIN, MJ, FARRAR, GJ, KENNA, PF, YOUNG, MM, HUMPHRIES, P, THREE KERATIN GENE MUTATIONS ACCOUNT FOR THE MAJORITY OF DOMINANT SIMPLEX EPIDERMOLYSIS BULLOSA CASES WITHIN THE POPULATION OF IRELAND, HUMAN MUTATION, 8, 1996, p57 - 63 Journal Article, 1996

MOLLOY, K, GOULDEN, N, LAWLER, M, CORNISH, J, OAKHILL, A, PAMPHILON, D, POTTER, M, STEWARD, C, LANGLANDS, K, HUMPHRIES, P, MCCANN, SR, PATTERNS OF HEMATOPOIETIC CHIMERISM FOLLOWING BONE MARROW TRANSPLANTATION FOR CHILDHOOD ACUTE LYMPHOBLASTIC LEUKEMIA FROM VOLUNTEER UNRELATED DONORS, BLOOD, 87, 1996, p3027 - 3031 Journal Article, 1996

KENNA, PF, AN IRISH PEDIGREE SEGREGATING RETINITIS-PIGMENTOSA AND DEAFNESS, unknown, 1995, 36, ISI Web of Science, 1995, ppS1044 - S1044 Meeting Abstract, 1995

FARRAR, GJ, PROGRESS IN GENETIC-LINKAGE FOR RETINITIS-PIGMENTOSA AND GENE DELIVERY TO OCULAR-TISSUES, unknown, 1995, 36, ISI Web of Science, 1995, ppS1045 - S1045 Meeting Abstract, 1995

MCCANN, S, LAWLER, M, GARDINER, N, HUMPHRIES, P, PROGNOSTIC-SIGNIFICANCE OF MIXED HEMATOPOIETIC CHIMERISM FOLLOWING ALLOGENEIC BONE-MARROW TRANSPLANTATION, CHINESE MEDICAL JOURNAL, 107, 1995, p729 - 730 Journal Article, 1995

MANSERGH, FC, KENNA, PF, RUDOLPH, G, MEITINGER, T, FARRAR, GJ, KUMARSINGH, R, SCORER, J, HALLY, AM, MYNETTJOHNSON, L, HUMPHRIES, MM, KIANG, S, HUMPHRIES, P, EVIDENCE FOR GENETIC-HETEROGENEITY IN BESTS VITELLIFORM MACULAR DYSTROPHY, JOURNAL OF MEDICAL GENETICS, 32, 1995, p855 - 858 Journal Article, 1995

Mansergh FC, Kenna PF, Rudolph G, Meitinger T, Farrar GJ, Kumar-Singh R, Scorer J, Hally AM, Mynett-Johnson L, Humphries MM, Kiang S and Humphries P., Evidence for genetic heterogeneity in Best's Vitelliform Macular Dystrophy, J. Med. Genet, 32, 1995, p855 - 858 Journal Article, 1995

FARRAR, GJ KENNA, PF MANSERGH, F ERVEN, ASW HUMPHRIES, MM KENNEDY, S, SIEVING, P BUSH, R GULYA, K HUMPHRIES, P, PROGRESS IN GENETIC-LINKAGE FOR RETINITIS-PIGMENTOSA AND GENE DELIVERY TO OCULAR-TISSUES, INVESTIGATIVE OPHTHALMOLOGY AND VISUAL SCIENCE, 36, 1995, pS1045 Journal Article, 1995

MCGUIRE, RE, GENETIC AND PHYSICAL MAPPING OF THE RP10 REGION, unknown, 1995, 57, ISI Web of Science, 1995, pp1534 - 1534 Meeting Abstract, 1995

Jordan S and Humphries P., Single nucleotide polymorphism in the transcribed region of the BCP gene on 7q31-35, Hum. Mol. Genet, 3, 1994, p1915 - 1925 Journal Article, 1994

Fuchs S, Kranich H, Denton JJ, Zrenner E, Bhattacharya SS, Humphries P and Gal A, Three novel rhodopsin mutations (C110F, L131P, A164V) in patients with autosomal dominant retinitis pigmentosa, Hum. Mol. Genet, 3, 1994, p1203- Journal Article, 1994

FUCHS S, KRANICH H, DENTON MJ, ZRENNER E, BHATTACHARYA SS, HUMPHRIES P, GAL A, 3 NOVEL RHODOPSIN MUTATIONS (C110F, L131P, A164V) IN PATIENTS WITH AUTOSOMAL-DOMINANT RETINITIS-PIGMENTOSA, HUMAN MOLECULAR GENETICS , 3 (7), (JUL), 1994, p1203 Journal Article, 1994

KUMARSINGH, R, LINKAGE MAPPING OF THE RHODOPSIN GENE AND THE MICROSATELLITE MARKER D3S621, unknown, 1994, 65, ISI Web of Science, 1994, pp39 - 39 Meeting Abstract, 1994

Mansergh FC, Jordan S, Farrar GJ, Kumar-Singh R and Humphries P., Three sequence poymorphisms in the phosducin (PDC) gene on chromosome 1q25-32, Hum. Mol. Genet, 3, 1994, p2077 - 2097 Journal Article, 1994

JORDAN SA, HUMPHRIES P, SINGLE NUCLEOTIDE POLYMORPHISM IN EXON-2 OF THE BCP GENE ON 7Q31-Q35, HUMAN MOLECULAR GENETICS, 3 (10), (OCT), 1994, p1915 Journal Article, 1994

VANSOEST, S, VANDENBORN, LI, GAL, A, FARRAR, GJ, BLEEKERWAGEMAKERS, LM, WESTERVELD, A, HUMPHRIES, P, SANDKUIJL, LA, BERGEN, AAB, ASSIGNMENT OF A GENE FOR AUTOSOMAL RECESSIVE RETINITIS-PIGMENTOSA (RP12) TO CHROMOSOME 1Q31-Q32.1 IN AN INBRED AND GENETICALLY HETEROGENEOUS DISEASE POPULATION, GENOMICS, 22, 1994, p499 - 504 Journal Article, 1994

Kumar-Singh R, He Wang K, Carritt B and Humphries P., The 'Eurogem' map of human chromosome 1, Eur. J. Hum. Genet, 2, 1994, p204 - 205 Journal Article, 1994

Lawler M, Humphries P, O'Farrelly C, Hoey H, Sheils O, Jeffers M, O'Briain DS, Kelleher D., Adenovirus 12 E1A gene detection by polymerase chain reaction in both the normal and coeliac duodenum, Gut,, 35, (9), 1994, p1226 - 1232 Journal Article, 1994

MCCANN, SR, LAWLER, M, GARDINER, N, ORIORDAN, J, HUMPHRIES, P, DEARCE, M, DONOR LEUKEMIA FOLLOWING ALLOGENEIC BONE-MARROW TRANSPLANTATION, LEUKEMIA, 8, 1994, pS133 - S136 Journal Article, 1994

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 Journal Article, 1994

MANSERGH FC, JORDAN SA, FARRAR GJ, KUMARSINGH R, GAL A, BHATTACHARYA S, HUMPHRIES P, 3 SEQUENCE POLYMORPHISMS IN THE PDC GENE, HUMAN MOLECULAR GENETICS , 3 (11), (NOV), 1994, p2077 Journal Article, 1994

Autosomal Dominant Retinitis Pigmentosa. The Molecular Genetics of Inherited Eye Disorders: in, editor(s)AF Wright & B Jay. , Modern Genetics 2, 1994, pp153 - 172 , [Humphries P, Kenna P and Farrar GJ.] Book Chapter, 1994

LAWLER, M, HUMPHRIES, P, OFARRELLY, C, HOEY, H, SHEILS, O, JEFFERS, M, OBRIAIN, DS, KELLEHER, D, ADENOVIRUS-12 E1A GENE DETECTION BY POLYMERASE CHAIN-REACTION IN BOTH THE NORMAL AND CELIAC DUODENUM, GUT, 35, 1994, p1226 - 1232 Journal Article, 1994

Terrenato L, Jodice C, Loizedda A, Contu L, Buard J, Vergnaud G, Humphries P, Kumar-Singh R, Massart C and Cann H., The Eurogem Map of Chromosome 6, Eur. J. Hum. Genet, 2, 1994, p214 - 215 Journal Article, 1994

HUMPHRIES, P, KENNA, P, FARRAR, GJ, NEW DIMENSIONS IN MACULAR DYSTROPHIES, NATURE GENETICS, 8, 1994, 315 - 317 Miscellaneous, 1994

MCCANN, SR, LEUKEMIC TRANSFORMATION OF DONOR CELLS AFTER ALLOGENEIC BONE-MARROW TRANSPLANTATION (BMT), unknown, 1993, 21, ISI Web of Science, 1994, pp1065 - 1065 Meeting Abstract, 1994

Mc Cann SR, Lawler M, Gardiner N, O'Riordan J, Humphries P., De Arce M. Donor leukemia following allogeneic bone marrow transplantation, Leukemia, 8, 1994, p133 - 135 Journal Article, 1994

Humphries P., Hereditary Retinopathies: insights into a complex genetic etiology, Brit. J. Ophthalmol, `77, ( ), 1993, p469 - 470 Journal Article, 1993

GANNON, AM, MUTATIONS IN PERIPHERIN RDS IN PATIENTS WITH RETINITIS-PIGMENTOSA - A 12 BASE-PAIR DELETION IN EXON-2, unknown, 1993, 53, ISI Web of Science, 1993, pp1160 - 1160 Meeting Abstract, 1993

HUMPHRIES, MM, SHEILS, DM, FARRAR, GJ, KUMARSINGH, R, KENNA, PF, MANSERGH, FC, JORDAN, SA, YOUNG, M, HUMPHRIES, P, A MUTATION (MET-]ARG) IN THE TYPE-I KERATIN (K14) GENE RESPONSIBLE FOR AUTOSOMAL-DOMINANT EPIDERMOLYSIS-BULLOSA SIMPLEX, HUMAN MUTATION, 2, 1993, p37 - 42 Journal Article, 1993

KUMARSINGH R, KENNA PF, FARRAR GJ, HUMPHRIES P, EVIDENCE FOR FURTHER GENETIC-HETEROGENEITY IN AUTOSOMAL DOMINANT RETINITIS-PIGMENTOSA, GENOMICS, 15 (1), (JAN), 1993, p212 - 215 Journal Article, 1993

BASCOM RA, LIU L, HUMPHRIES P, FISHMAN GA, MURRAY JC, MCINNES RR, POLYMORPHISMS AND RARE SEQUENCE VARIANTS AT THE ROM1 LOCUS, HUMAN MOLECULAR GENETICS , 2 (11), (NOV), 1993, p1975 - 1977 Journal Article, 1993

Farrar GJ, Findlay JBC, Kumar-Singh R, Kenna P, Humphries MM, Sharp E and Humphries P., Autosomal dominant retinitis pigmentosa: A novel mutation in the rhodopsin gene in the original 3q linked family, Hum. Mol. Genet, 9, 1993, p769 - 771 Journal Article, 1993

JORDAN, SA, AUTOSOMAL DOMINANT RETINITIS-PIGMENTOSA (ADRP) - LOCALIZATION OF A GENE SEGREGATING IN AN IRISH FAMILY TO CHROMOSOME-6P, unknown, 1993, 62, ISI Web of Science, 1993, pp81 - 81 Meeting Abstract, 1993

Extensive Genetic Heterogeneity in Autosomal Dominant Retinitis Pigmenotsa in, editor(s)Eds. Hollyfield et al , Retinal Degeneration, New York, Plenum Press, 1993, pp63-77 , [Farrar GJ, Jordan SA, Kumar-Singh R, Inglehearn CF, Gal A, Gregory C, AI-Maghtheh M, Kenna PF, Humphries MM, Sharp EM, Sheils D, Gunge S, Hargrave PA, Denton MJ, Schwinger E, Bhattacharya SS and Humphries P. ] Book Chapter, 1993

PAMPHILON, DH, CORNISH, JM, GOODMAN, S, BALL, L, LAWLER, M, MCCANN, S, HUMPHRIES, P, OAKHILL, A, SUCCESSFUL 2ND UNRELATED DONOR BMT IN A CHILD WITH JUVENILE CHRONIC MYELOID-LEUKEMIA - DOCUMENTATION OF CHIMERISM USING THE POLYMERASE CHAIN-REACTION, BONE MARROW TRANSPLANTATION, 11, 1993, p81 - 84 Journal Article, 1993

JORDAN, SA, FARRAR, GJ, KENNA, P, HUMPHRIES, MM, SHEILS, DM, KUMARSINGH, R, SHARP, EM, SORIANO, N, AYUSO, C, BENITEZ, J, HUMPHRIES, P, LOCALIZATION OF AN AUTOSOMAL-DOMINANT RETINITIS-PIGMENTOSA GENE TO CHROMOSOME-7Q, NATURE GENETICS, 4, 1993, p54 - 58 Journal Article, 1993

Kumar-Singh R, Farrar CF, Mansergh F, Kenna P, Bhattacharya S, Gal A and Humphries P., 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), Hum.Mol.Genet, 2, 1993, p875 - 878 Journal Article, 1993

HUMPHRIES, P, FARRAR, GJ, KENNA, P, AUTOSOMAL DOMINANT RETINITIS-PIGMENTOSA - MOLECULAR, GENETIC AND CLINICAL ASPECTS, PROGRESS IN RETINAL RESEARCH, 12, 1993, p231 - 245 Journal Article, 1993

Humphries MM, Sheils DM, Farrar GJ, Kumar-Singh R, Kenna PF, Mansergh FC, Jordan SA, Young M, Humphries P., A mutation (Met-->Arg) in the type I keratin (K14) gene responsible for autosomal dominant epidermolysis bullosa simplex, Hum Mutat, 2, (1), 1993, p37 - 42 Journal Article, 1993

KUMAR-SINGH, R, EXCLUSION OF THE INVOLVEMENT OF ALL KNOWN RETINITIS-PIGMENTOSA LOCI IN THE DISEASE PRESENT IN A FAMILY OF IRISH ORIGIN PROVIDES EVIDENCE FOR A 6TH-AUTOSOMAL DOMINANT LOCUS (RP8), HUMAN MOLECULAR GENETICS, 2, 1993, p875 - 878 Journal Article, 1993

HUMPHRIES, P, HEREDITARY RETINOPATHIES - INSIGHTS INTO A COMPLEX GENETIC ETIOLOGY, BRITISH JOURNAL OF OPHTHALMOLOGY, 77, 1993, 469 - 470 Miscellaneous, 1993

Jordan SA, Farrar GJ, Kenna P, Humphries MM, Sheils D, Kumar-Singh R, Sharp EM, Soriano N, Ayuso C, Benitez J and Humphries P. , Localisation of an autosomal dominant retinitis pigmentosa gene to chromosome 7q, Nature Genetics, 4, 1993, p54 - 57 Journal Article, 1993

Pamphilon DH, Cornish JM, Goodman S, Ball L, Lawler M, McCann S, Humphries P, Oakhill A., Successful second unrelated donor BMT in a child with juvenile chronic myeloid leukaemia: documentation of chimaerism using the polymerase chain reaction., Bone Marrow Transplant, 11, (1), 1993, p81 - 84 Journal Article, 1993

Kumar-Singh R and Humphries P., Isolation and genetic mapping of four microsatellite repeats from chromosome 3p21 using 40 CEPH pedigrees, Genomics, 18, 1993, p717 - 719 Journal Article, 1993

KUMARSINGH, R, WANG, H, HUMPHRIES, P, FARRAR, GJ, AUTOSOMAL DOMINANT RETINITIS-PIGMENTOSA - NO EVIDENCE FOR NONALLELIC GENETIC-HETEROGENEITY ON 3Q, AMERICAN JOURNAL OF HUMAN GENETICS, 52, 1993, p319 - 326 Journal Article, 1993

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 Journal Article, 1993

KUMARSINGH R, HUMPHRIES P, ISOLATION AND GENETIC-MAPPING OF 4 MICROSATELLITE REPEATS FROM CHROMOSOME-3P21 USING 40 CEPH PEDIGREES, GENOMICS, 18 (3), (DEC), 1993, p717 - 719 Journal Article, 1993

INGLEHEARN C, FARRAR J, DENTON M, GAL A, HUMPHRIES P, BHATTACHARYA S, EVIDENCE AGAINST A 2ND AUTOSOMAL-DOMINANT RETINITIS-PIGMENTOSA LOCUS CLOSE TO RHODOPSIN ON CHROMOSOME-3Q, AMERICAN JOURNAL OF HUMAN GENETICS, 53 (2), (AUG), 1993, p536 - 537 Journal Article, 1993

HUMPHRIES, MM SHEILS, D YOUNG, M FARRAR, GJ HUMPHRIES, P, GENETIC-LINKAGE ANALYSIS IN A PEDIGREE WITH AUTOSOMAL DOMINANT SIMPLEX EPIDERMOLYSIS-BULLOSA, JOURNAL OF INVESTIGATIVE DERMATOLOGY, 98 , 1992, p397 Journal Article, 1992

Jordan SA, del Rio T, Soriano N, Garcia-Sandoval B, Kenna P, Ayuso C, Benitez I and Humphries P. , Autosomal dominant retinitis pigmentosa (adRP): exclusion of a gene from three mapped loci provides evidence for the existence of a fourth locus, Hum. Mol. Genet, 1, (6), 1992, p411 - 415 Journal Article, 1992

FARRAR GJ, KENNA P, JORDAN SA, KUMARSINGH R, HUMPHRIES MM, SHARP EM, SHEILS D, HUMPHRIES P, AUTOSOMAL DOMINANT RETINITIS-PIGMENTOSA - A NOVEL MUTATION AT THE PERIPHERIN/RDS LOCUS IN THE ORIGINAL 6P-LINKED PEDIGREE, GENOMICS, 14 (3), (NOV), 1992, p805 - 807 Journal Article, 1992

Humphries MM, Sheils DM, Jordan SA, Farrar GJ, Kumar-Singh R and Humphries P., Alu polymorphism in the human type I Keratin (KRT14) gene, Human Mol Genet, 1, (6), 1992, p453- Journal Article, 1992

BLEEKERWAGEMAKERS LM, GAL A, KUMARSINGH R, VANDENBORN LI, LI Y, SCHWINGER E, SANDKUIJL LA, BERGEN AAB, KENNA P, HUMPHRIES P, FARRAR GJ, EVIDENCE FOR NONALLELIC GENETIC-HETEROGENEITY IN AUTOSOMAL RECESSIVE RETINITIS-PIGMENTOSA, GENOMICS, 14 (3), (NOV), 1992, p811 - 812 Journal Article, 1992

HUMPHRIES, MM, GENETIC-LINKAGE ANALYSIS IN A PEDIGREE WITH AUTOSOMAL DOMINANT SIMPLEX EPIDERMOLYSIS-BULLOSA, unknown, 1992, 98, ISI Web of Science, 1992, pp397 - 397 Meeting Abstract, 1992

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 Journal Article, 1992

Bleeker-Wagemarkers L, Bergen O, Gal A, Kumar-Singh R, Kenna P, Humphries P and Farrar GJ, Retinitis pigmentosa: exclusion of a locus from the long arm of chromosome 3 in the region of the rhodopsin gene provides evidence of genetic heterogeneity in the autosomal recessive form of the disease, Genomics, 14, 1992, p811 - 812 Journal Article, 1992

McCann SR, Lawler M, Humphries P, Bacigalupo A, Podesta M, Frassoni F, Van Lint MT, Marmont A., Recurrence of Philadelphia chromosome-positive leukemia in donor cells after marrow transplantation for chronic granulocytic leukemia: confirmation by microsatellite studies, Blood, 15, (79(10)), 1992, p2803 - 2805 Journal Article, 1992

DENTON, MJ, A POSSIBLE 2ND LOCUS FOR AUTOSOMAL DOMINANT RETINITIS-PIGMENTOSA MAPS ON 3Q AND IS CLOSELY LINKED TO D3S20, unknown, 1991, 58, ISI Web of Science, 1992, pp1875 Meeting Abstract, 1992

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 Journal Article, 1992

Humphries P, Farrar GJ and Kenna P., Autosomal Dominant Retinitis Pigmentosa: Molecular Genetic and Clinical Aspects, Prog. Ret. Res., 12, 1992, p231 - 245 Journal Article, 1992

HUMPHRIES, P, KENNA, P, FARRAR, GJ, ON THE MOLECULAR-GENETICS OF RETINITIS-PIGMENTOSA, SCIENCE, 256, 1992, p804 - 808 Journal Article, 1992

DEARCE, MA, COSTIGAN, C, GOSDEN, JR, LAWLER, M, HUMPHRIES, P, FURTHER EVIDENCE CONSISTENT WITH YQH AS AN INDICATOR OF RISK OF GONADAL BLASTOMA IN Y-BEARING MOSAIC TURNER SYNDROME, CLINICAL GENETICS, 41, 1992, p28 - 32 Journal Article, 1992

CREIGHTON P, EGGEN A, FRIES R, JORDAN SA, HETZEL J, CUNNINGHAM EP, HUMPHRIES P, MAPPING OF BOVINE MARKERS CYP21, PRL, AND BOLA DRBP1 BY GENETIC-LINKAGE ANALYSIS IN REFERENCE PEDIGREES, GENOMICS, 14 (2), (OCT), 1992, p526 - 528 Journal Article, 1992

HAMOSH, A, KING, TM, ROSENSTEIN, BJ, COREY, M, LEVISON, H, DURIE, P, TSUI, LC, MCINTOSH, I, KESTON, M, BROCK, DJH, MACEK, M, ZEMKOVA, D, KRASNICANOVA, H, VAVROVA, V, MACEK, M, GOLDER, N, SCHWARZ, MJ, SUPER, M, WATSON, EK, WILLIAMS, C, BUSH, A, OMAHONEY, SM, HUMPHRIES, P, DEARCE, MA, REIS, A, BURGER, J, STUHRMANN, M, SCHMIDTKE, J, WULBRAND, U, DORK, T, TUMMLER, B, CUTTING, GR, CYSTIC-FIBROSIS PATIENTS BEARING BOTH THE COMMON MISSENSE MUTATION GLY -] ASP AT CODON 551 AND THE DELTA-F508 MUTATION ARE CLINICALLY INDISTINGUISHABLE FROM DELTA-F508 HOMOZYGOTES, EXCEPT FOR DECREASED RISK OF MECONIUM ILEUS, AMERICAN JOURNAL OF HUMAN GENETICS, 51, 1992, p245 - 250 Journal Article, 1992

LI, Y, MULLER, B, FUHRMANN, C, VANNOUHUYS, CE, LAQUA, H, HUMPHRIES, P, SCHWINGER, E, GAL, A, THE AUTOSOMAL DOMINANT FAMILIAL EXUDATIVE VITREORETINOPATHY LOCUS MAPS ON 11Q AND IS CLOSELY LINKED TO D11S533, AMERICAN JOURNAL OF HUMAN GENETICS, 51, 1992, p749 - 754 Journal Article, 1992

HORN, M, HUMPHRIES, P, KUNISCH, M, MARCHESE, C, APFELSTEDTSYLLA, E, FUGI, L, ZRENNER, E, KENNA, P, GAL, A, FARRAR, J, DELETIONS IN EXON-5 OF THE HUMAN RHODOPSIN GENE CAUSING A SHIFT IN THE READING FRAME AND AUTOSOMAL DOMINANT RETINITIS-PIGMENTOSA, HUMAN GENETICS, 90, 1992, p255 - 257 Journal Article, 1992

JORDAN, SA, FARRAR, GJ, KUMARSINGH, R, KENNA, P, HUMPHRIES, MM, ALLAMAND, V, SHARP, EM, HUMPHRIES, P, 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, 1992, p634 - 639 Journal Article, 1992

Horn M, Farrar GJ, Kunisch M, Marchese C, Apfelstedt-Sylla E, Fugi L, Zrenner E, Kenna P, Gal A and Humphries P. , Deletions in exon 5 of the human rhodopsin gene causing shift in the reading frame and autosomal dominant retinitis pigmentosa, Human Genetics, 90, 1992, p255 - 257 Journal Article, 1992

MCCANN, SR, LAWLER, M, HUMPHRIES, P, BACIGALUPO, A, PODESTA, M, FRASSONI, F, VANLINT, MT, MARMONT, A, RECURRENCE OF PHILADELPHIA CHROMOSOME-POSITIVE LEUKEMIA IN DONOR CELLS AFTER MARROW TRANSPLANTATION FOR CHRONIC GRANULOCYTIC-LEUKEMIA - CONFIRMATION BY MICROSATELLITE STUDIES, BLOOD, 79, 1992, 2803 - 2805 Miscellaneous, 1992

INGLEHEARN, CF, LESTER, DH, BASHIR, R, ATIF, U, KEEN, TJ, SERTEDAKI, A, LINDSEY, J, JAY, M, BIRD, AC, FARRAR, GJ, HUMPHRIES, P, BHATTACHARYA, SS, RECOMBINATION BETWEEN RHODOPSIN AND LOCUS D3S47 (C17) IN RHODOPSIN RETINITIS-PIGMENTOSA FAMILIES, AMERICAN JOURNAL OF HUMAN GENETICS, 50, 1992, p590 - 597 Journal Article, 1992

Humphries P, Kenna P and Farrar GJ, On the molecular genetics of retinitis pigmentosa, Science, 256, 1992, p804 - 808 Journal Article, 1992

JORDAN, SA, GENETIC-LINKAGE STUDIES OF A LATE ONSET AUTOSOMAL DOMINANT RETINITIS-PIGMENTOSA FAMILY USING MICROSATELLITES, unknown, 1991, 58, ISI Web of Science, 1992, pp2114 - 2114 Meeting Abstract, 1992

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 Journal Article, 1992

BLUNDELL EL, PAMPHILON DH, ANDERSON NA, SLADE RR, BURTON PA, MARTIN A, RAY T, BRADLEY BA, LAWLER M, HUMPHRIES P, MCCANN SR, TRANSFUSION-ASSOCIATED GRAFT-VERSUS-HOST DISEASE, MONOCLONAL GAMMOPATHY AND PCR, BRITISH JOURNAL OF HAEMATOLOGY, 82 (3), (NOV), 1992, p622 - 623 Journal Article, 1992

Browne PV, Lawler M, Humphries P, McCann SR., Donor-cell leukemia after bone marrow transplantation for severe aplastic anemia, N Engl J Med., 325, 1991, p710 - 713 Journal Article, 1991

KUMARSINGH, R, BRADLEY, DG, FARRAR, GJ, LAWLER, M, JORDAN, SA, HUMPHRIES, P, AUTOSOMAL DOMINANT RETINITIS-PIGMENTOSA - A NEW MULTI-ALLELIC MARKER (D3S621) GENETICALLY LINKED TO THE DISEASE LOCUS (RP4), HUMAN GENETICS, 86, 1991, p502 - 504 Journal Article, 1991

Farrar GJ, Kenna P, Jordan S, Kumar-Singh R, Humphries MM, Sharp EM, Sheils D and Humphries P., A 3 base-pair deletion in the peripherin gene in one form of retinitis pigmentosa, Nature, 354, 1991, p478 - 480 Journal Article, 1991

MCCANN, SR, COMPARISON OF PCR AND RFLP ANALYSIS OF MIXED CHIMERISM FOLLOWING BONE-MARROW TRANSPLANTATION FOR CHRONIC MYELOID-LEUKEMIA, unknown, 1991, 19, ISI Web of Science, 1991, pp564 - 564 Meeting Abstract, 1991

JORDAN, SA MCWILLIAM, P KENNA, P HUMPHRIES, MM SINGH, RK FARRAR, GJ, HUMPHRIES, P, GENETIC-LINKAGE STUDIES OF A LATE ONSET AUTOSOMAL DOMINANT RETINITIS-PIGMENTOSA FAMILY USING MICROSATELLITES, CYTOGENETICS AND CELL GENETICS, 58, 1991, p2114 Journal Article, 1991

Jordan S, McWilliam P, O'Brian DS and Humphries P., Dinucleotide repeat polymorphism at the D14S42 locus, Nucl. Acids Res, 19, 1991, p1171- Journal Article, 1991

Farrar GJ, Kenna P, Redmond R, McWilliam P, Bradley DG, Humphries MM, Sharp EM, Inglehearn C, Bashir R, Jay M, Watty A, Ludwig M, Schinzel A, Sammans C, Gal A, Bhattacharya S and Humphries P, Autosomal dominant retinitis pigmentosa (RP4): absence of the rhodopsin codon 23 proline->histidine transversion in pedigrees of European origin, Am. J. Hum. Genet, 47, 1991, p941 - 945 Journal Article, 1991

Kumar-Singh R, Bradley DG, Farrar GJ, Lawler M, Jordan SA and Humphries P. , Autosomal dominant retinitis pigmentosa: a new multiallelic marker (D35621) genetically linked to the disease locus (RP4), Human Genetics, 86, 1991, p502 - 504 Journal Article, 1991

Doak S, Jordan SA, Kumar-Singh R and Humphries P., A sequence polymorphism in the human peripherin/RDS gene, Nucl. Acids. Res., 19, 1991, p6982 Journal Article, 1991

MCCANN, SR, LAWLER, M, HUMPHRIES, P, MIXED CHIMERISM, BRITISH JOURNAL OF HAEMATOLOGY, 77, 1991, 257 - 257 Miscellaneous, 1991

KUMARSINGH R, JORDAN SA, FARRAR GJ, HUMPHRIES P, POLY (T/A) POLYMORPHISM AT THE HUMAN RETINAL DEGENERATION SLOW (RDS) LOCUS, NUCLEIC ACIDS RESEARCH, 19 (20), (OCT 25), 1991, p5800 Journal Article, 1991

BROWNE, PV, LAWLER, M, ORIORDAN, J, HUMPHRIES, P, MCCANN, SR, EARLY DETECTION OF LEUKEMIC RELAPSE AFTER BONE-MARROW TRANSPLANTATION USING THE POLYMERASE CHAIN-REACTION, BONE MARROW TRANSPLANTATION, 7, 1991, p167 - 169 Journal Article, 1991

Farrar GJ, Kenna P, Redmond R, McWilliam P, Bradley DG, Humphries MM, Sharp EM, Fishman G, Marchese C, Fusi L, Dufier JL, Abitbol M and Humphries P., Autosomal dominant retinitis pigmentosa (RP4): analysis of mutations within the rhodopsin gene. Retinitis Pigmentosa: Advances in Clinical and Genetic Research., Florida, CRC Press, 1991 Book, 1991

JORDAN SA, MCWILLIAM P, OBRIAIN DS, HUMPHRIES P, DINUCLEOTIDE REPEAT POLYMORPHISM AT THE D14S42 LOCUS, NUCLEIC ACIDS RESEARCH , 19 (5), (MAR 11), 1991, p1171 Journal Article, 1991

FARRAR, GJ, JORDAN, SA, KENNA, P, HUMPHRIES, MM, KUMARSINGH, R, MCWILLIAM, P, ALLAMAND, V, SHARP, E, HUMPHRIES, P, AUTOSOMAL DOMINANT RETINITIS-PIGMENTOSA - LOCALIZATION OF A DISEASE GENE (RP6) TO THE SHORT ARM OF CHROMOSOME-6, GENOMICS, 11, 1991, p870 - 874 Journal Article, 1991

FARRAR, GJ, CONTINUED GENETIC-LINKAGE STUDIES IN AUTOSOMAL DOMINANT, unknown, 1991, 49, ISI Web of Science, 1991, pp2 - 2 Meeting Abstract, 1991

FARRAR, GJ, A 3-BASE-PAIR DELETION IN THE PERIPHERIN-RDS GENE IN ONE FORM OF RETINITIS-PIGMENTOSA, NATURE, 354, 1991, p478 - 480 Journal Article, 1991

JORDAN SA, MCWILLIAM P, OBRIAIN DS, HUMPHRIES P, DINUCLEOTIDE REPEAT POLYMORPHISM AT THE T-CELL RECEPTOR DELTA LOCUS (TCRD), NUCLEIC ACIDS RESEARCH, 19 (8), (APR 25), 1991, p1959 Journal Article, 1991

Farrar GJ, Kenna P, Redmond R, Sheils D, McWilliam P, Humphries MM, Sharp EM, Jordan SA, Kumar-Singh R and Humphries P., Autosomal dominant retinitis pigmentosa: a mutation in codon 178 of the rhodopsin gene in an adRP family of Celtic origin, Genomics, 11, 1991, p1170 - 1171 Journal Article, 1991

Browne PV, Lawler M, O'Riordan J, Humphries P and McCann SR. , Early detection of leukaemic relapse after bone marrow transplantation using the polymerase chain reaction, Bone Marrow Transplant, 7, (2), 1991, p167 - 169 Journal Article, 1991

Farrar GJ, Jordan SA, Kenna P, Humphries MM, Kumar-Singh R, McWilliam P, Allamand Y Sharp EM and Humphries P., Autosomal Dominant retinitis pigmentosa: localization of a disease gene (RP6) to the short arm of chromosome 6, Genomics, 11, 1991, p870 - 874 Journal Article, 1991

DOAK S, JORDAN S, MCWILLIAM P, HUMPHRIES P, TETRANUCLEOTIDE REPEAT POLYMORPHISM AT THE ACPP LOCUS, NUCLEIC ACIDS RESEARCH, 19 (17), (SEP 11), 1991, p4793 Journal Article, 1991

LAWLER, M, HUMPHRIES, P, MCCANN, SR, EVALUATION OF MIXED CHIMERISM BY INVITRO AMPLIFICATION OF DINUCLEOTIDE REPEAT SEQUENCES USING THE POLYMERASE CHAIN-REACTION, BLOOD, 77, 1991, p2504 - 2514 Journal Article, 1991

Kumar-Singh R, Jordan S, Farrar GJ and Humphries P., Poly (TIA) polymorphism at the human retinal degeneration slow (RDS) locus, Nucl. Acids Res., 19, 1991, p5800- Journal Article, 1991

McCann SR, Lawler M, Humphries P., Mixed chimaerism, Br J Haematol, 77, (2), 1991, p257- Journal Article, 1991

Progress in the locala1ization of a late-onset adRP gene. in, editor(s)Hollyfield. Anderson and LaVail , Retinal Degenerations, Florida, CRC Press, 1991, pp369 - 373, [McWilliam P, Jordan S, Kenna P, Humphries MM, Kumar-Singh R, Sharp EM and Humphries P.] Book Chapter, 1991

FARRAR GJ, KENNA P, REDMOND R, SHIELS D, MCWILLIAM P, HUMPHRIES MM, SHARP EM, JORDAN S, KUMARSINGH R, HUMPHRIES P, AUTOSOMAL DOMINANT RETINITIS-PIGMENTOSA - A MUTATION IN CODON 178 OF THE RHODOPSIN GENE IN 2 FAMILIES OF CELTIC ORIGIN, GENOMICS, 11 (4), (DEC), 1991, p1170 - 1171 Journal Article, 1991

BROWNE PV, LAWLER M, HUMPHRIES P, MCCANN SR, DONOR-CELL LEUKEMIA AFTER BONE-MARROW TRANSPLANTATION FOR SEVERE APLASTIC-ANEMIA, NEW ENGLAND JOURNAL OF MEDICINE, 325 (10), (SEP 5), 1991, p710 - 713 Journal Article, 1991

De Arce MA, Mulherin D, McWilliam P, Lawler M, FitzGerald MX, Humphries P., Frequency of deletion 508 among Irish cystic fibrosis patients, Hum Genet, 5, 1990, p403 - 404 Journal Article, 1990

FARRAR, GJ, MCWILLIAM, P, BRADLEY, DG, KENNA, P, LAWLER, M, SHARP, EM, HUMPHRIES, MM, EIBERG, H, CONNEALLY, PM, TROFATTER, JA, HUMPHRIES, P, AUTOSOMAL DOMINANT RETINITIS-PIGMENTOSA - LINKAGE TO RHODOPSIN AND EVIDENCE FOR GENETIC-HETEROGENEITY, GENOMICS, 8, 1990, p35 - 40 Journal Article, 1990

HUMPHRIES, M, NAGAYOSHI, T, SHEILS, D, HUMPHRIES, P, UITTO, J, HUMAN NIDOGEN GENE - IDENTIFICATION OF MULTIPLE RFLP AND EXCLUSION AS CANDIDATE GENE IN A FAMILY WITH EPIDERMOLYSIS-BULLOSA (EBS2) WITH EVIDENCE FOR LINKAGE TO CHROMOSOME-1, JOURNAL OF INVESTIGATIVE DERMATOLOGY, 95, 1990, p568 - 570 Journal Article, 1990

DEARCE, MA, MULHERIN, D, MCWILLIAM, P, LAWLER, M, FITZGERALD, MX, HUMPHRIES, P, FREQUENCY OF DELETION-508 AMONG IRISH CYSTIC-FIBROSIS PATIENTS, HUMAN GENETICS, 85, 1990, p403 - 404 Journal Article, 1990

Ott J, Bhattacharya S, Chen JD, Denton MJ, Donald J, Dubar C, Farrar GJ, Fishman GA, Frey D, Gal A, Humphries P, Jay B, Jay M, Litt M, Mochler M, Musarella M, Neugebauer M, Nussbaum RL, Terwillinger JD, Weleber RG, Wirth B, Wong R, Worton RG and Wright AF, Localizing multiple X-chromosome linked retinitis pigmentosa loci using multilocus homogeneity tests, Proc. Natl. Acad. Sci. USA,, 87, 1990, p701 - 704 Journal Article, 1990

HUMPHRIES, MM, EPIDERMOLYSIS-BULLOSA - EVIDENCE FOR LINKAGE TO GENETIC-MARKERS ON CHROMOSOME-1 IN A FAMILY WITH AUTOSOMAL DOMINANT SIMPLEX FORM, unknown, 1990, 38, ISI Web of Science, 1990, ppA683 - A683 Meeting Abstract, 1990

FARRAR, GJ, KENNA, P, REDMOND, R, MCWILLIAM, P, BRADLEY, DG, HUMPHRIES, MM, SHARP, EM, INGLEHEARN, CF, BASHIR, R, JAY, M, WATTY, A, LUDWIG, M, SCHINZEL, A, SAMANNS, C, GAL, A, BHATTACHARYA, S, HUMPHRIES, P, AUTOSOMAL DOMINANT RETINITIS-PIGMENTOSA - ABSENCE OF THE RHODOPSIN PROLINE-]HISTIDINE SUBSTITUTION (CODON 23) IN PEDIGREES FROM EUROPE, AMERICAN JOURNAL OF HUMAN GENETICS, 47, 1990, p941 - 945 Journal Article, 1990

Humphries M, Nagayoshi T, Sheils D, Humphries P, Uitto J., Human nidogen gene: identification of multiple RFLP and exclusion as candidate gene in a family with epidermolysis bullosa (EBS2) with evidence for linkage to chromosome 1, J Invest Dermatol, 95, (5), 1990, p568 - 570 Journal Article, 1990

Humphries P., Retinitis pigmentosa: genetic mapping in X-linked and autosomal forms of the disease, Clin. Genet, 38, 1990, p1 - 13 Journal Article, 1990

HUMPHRIES, MM SHEILS, D LAWLER, M FARRAR, GJ MCWILLIAM, P KENNO, P, BRADLEY, DG SHARP, EM GAFFNEY, EF YOUNG, M UITTO, J HUMPHRIES, P , EPIDERMOLYSIS-BULLOSA - EVIDENCE FOR LINKAGE TO GENETIC-MARKERS ON CHROMOSOME-1 IN A FAMILY WITH AUTOSOMAL DOMINANT SIMPLEX FORM, CLINICAL RESEARCH, 38, 1990, pA68 Journal Article, 1990

HUMPHRIES, MM, SHEILS, D, LAWLER, M, FARRAR, GJ, MCWILLIAM, P, KENNA, P, BRADLEY, DG, SHARP, EM, GAFFNEY, EF, YOUNG, M, UITTO, J, HUMPHRIES, P, EPIDERMOLYSIS-BULLOSA - EVIDENCE FOR LINKAGE TO GENETIC-MARKERS ON CHROMOSOME-1 IN A FAMILY WITH THE AUTOSOMAL DOMINANT SIMPLEX FORM, GENOMICS, 7, 1990, p377 - 381 Journal Article, 1990

BLANTON SH, COTTINGHAM AW, GIESENSCHLAG N, HECKENLIVELY JR, HUMPHRIES P, DAIGER SP, FURTHER EVIDENCE OF EXCLUSION OF LINKAGE BETWEEN TYPE-II AUTOSOMAL DOMINANT RETINITIS-PIGMENTOSA (ADRP) AND D3S47 ON 3Q, GENOMICS, 8 (1), (SEP), 1990, p179 - 181 Journal Article, 1990

HUMPHRIES, MM SHEILS, D LAWLER, M FARRAR, GJ MCWILLIAM, P KENNO, P, BRADLEY, DG SHARP, EM GAFFNEY, EF YOUNG, M UITTO, J HUMPHRIES, P, EPIDERMOLYSIS-BULLOSA - EVIDENCE FOR LINKAGE TO GENETIC-MARKERS ON CHROMOSOME-1 IN A FAMILY WITH AUTOSOMAL DOMINANT SIMPLEX FORM, JOURNAL OF INVESTIGATIVE DERMATOLOGY, 94, 1990, p536 Journal Article, 1990

Kumar-Singh R, Bradley DG, Kenna P, Farrar GJ, Lawler M, Humphries MM, Sharp E, Jordan SA, McWilliam P and Humphries P., Autosomal dominant retinitis pigmentosa (RP4): A new multi-allelic marker genetically linked to the disease locus, Hum. Genet., 86, 1990, p502 - 504 Journal Article, 1990

HUMPHRIES, P, KENNA, P, MCWILLIAM, P, RETINITIS-PIGMENTOSA - GENETIC-MAPPING IN X-LINKED AND AUTOSOMAL FORMS OF THE DISEASE, by FARRAR, GJ , CLINICAL GENETICS, 38, 1990, p1 - 13 Review, 1990

HUMPHRIES, MM, EPIDERMOLYSIS-BULLOSA - EVIDENCE FOR LINKAGE TO GENETIC-MARKERS ON CHROMOSOME-1 IN A FAMILY WITH AUTOSOMAL DOMINANT SIMPLEX FORM, unknown, 1990, 94, ISI Web of Science, 1990, pp536 - 536 Meeting Abstract, 1990

OTT, J, BHATTACHARYA, S, CHEN, JD, DENTON, MJ, DONALD, J, DUBAY, C, FARRAR, GJ, FISHMAN, GA, FREY, D, GAL, A, HUMPHRIES, P, JAY, B, JAY, M, LITT, M, MACHLER, M, MUSARELLA, M, NEUGEBAUER, M, NUSSBAUM, RL, TERWILLIGER, JD, WELEBER, RG, WIRTH, B, WONG, F, WORTON, RG, WRIGHT, AF, LOCALIZING MULTIPLE X-CHROMOSOME-LINKED RETINITIS-PIGMENTOSA LOCI USING MULTILOCUS HOMOGENEITY TESTS, PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA-PHYSICAL SCIENCES, 87, 1990, p701 - 704 Journal Article, 1990

Blanton SH, Cottingham AW, Giesenschlag N, Heckenlively JR, Humphries P and Daiger SP., Further evidence for exclusion of linkage between type II autosomal dominant retinitis pigmentosa adRP and D3S47, Genomics, 8, 1990, p179 - 181 Journal Article, 1990

FARRAR, GJ, MCWILLIAM, P, SHARP, EM, KENNA, P, BRADLEY, DG, HUMPHRIES, MM, MCCONNELL, DJ, HUMPHRIES, P, AUTOSOMAL DOMINANT RETINITIS PIGMENTOSA - EXCLUSION OF A GENE FROM EXTENSIVE REGIONS OF CHROMOSOME-6, CHROMOSOME-13, CHROMOSOME-20, AND CHROMOSOME-21, GENOMICS, 5, 1989, p612 - 618 Journal Article, 1989

Bradley D, Farrar GJ, Sharp EM, Kenna P, Humphries MM, McConnell DJ, Daiger SP, McWilliam P and Humphries P, Autosomal dominant retinitis pigmentosa: exclusion of the gene from the short arm of chromosome 1, including the region around the Rhesus locus, Am. J. Hum. Genet, 44, 1989, p570 - 576 Journal Article, 1989

MCQUAID S, MCCANN S, DALY P, LAWLOR E, HUMPHRIES P, OBSERVATIONS ON THE TRANSCRIPTIONAL ACTIVITY OF THE GLUTATHIONE S-TRANSFERASE PI-GENE IN HUMAN HEMATOLOGICAL MALIGNANCIES AND IN THE PERIPHERAL LEUKOCYTES OF CANCER-PATIENTS UNDER CHEMOTHERAPY, BRITISH JOURNAL OF CANCER, 59 (4), (APR), 1989, p540 - 543 Journal Article, 1989

BRADLEY, DG, EXCLUSION MAPPING OF THE AUTOSOMAL DOMINANT RETINITIS PIGMENTOSA (RP1) LOCUS FROM THE SHORT ARM OF CHROMOSOME-1, unknown, 1989, 51, ISI Web of Science, 1989, pp968 - 968 Meeting Abstract, 1989

LAWLER, M, MCCANN, SR, CONNEALLY, E, HUMPHRIES, P, CHIMERISM FOLLOWING ALLOGENEIC BONE-MARROW TRANSPLANTATION - DETECTION OF RESIDUAL HOST-CELLS USING THE POLYMERASE CHAIN-REACTION, BRITISH JOURNAL OF HAEMATOLOGY, 73, 1989, p205 - 210 Journal Article, 1989

DAIGER, SP, HUMPHRIES, MM, GIESENSCHLAG, N, SHARP, E, MCWILLIAM, P, FARRER, J, BRADLEY, D, KENNA, P, MCCONNELL, DJ, SPARKES, RS, SPENCE, MA, HECKENLIVELY, JR, HUMPHRIES, P, LINKAGE ANALYSIS OF HUMAN CHROMOSOME-4 - EXCLUSION OF AUTOSOMAL DOMINANT RETINITIS PIGMENTOSA (ADRP) AND DETECTION OF NEW LINKAGE GROUPS, CYTOGENETICS AND CELL GENETICS, 50, 1989, p181 - 187 Journal Article, 1989

BRADLEY, DG, FARRAR, GJ, SHARP, EM, KENNA, P, HUMPHRIES, MM, MCCONNELL, DJ, DAIGER, SP, MCWILLIAM, P, HUMPHRIES, P, AUTOSOMAL DOMINANT RETINITIS PIGMENTOSA - EXCLUSION OF THE GENE FROM THE SHORT ARM OF CHROMOSOME-I INCLUDING THE REGION SURROUNDING THE RHESUS LOCUS, AMERICAN JOURNAL OF HUMAN GENETICS, 44, 1989, p570 - 576 Journal Article, 1989

BRADLEY, DG FARRAR, GJ SHARP, E KENNA, P HUMPHRIES, MM MCWILLIAM, P, HUMPHRIES, P, EXCLUSION MAPPING OF THE AUTOSOMAL DOMINANT RETINITIS PIGMENTOSA (RP1) LOCUS FROM THE SHORT ARM OF CHROMOSOME-1, CYTOGENETICS AND CELL GENETICS, 51, 1989, p968 Journal Article, 1989

Daiger SP, Humphries MM, Giesenschlag N, Sharp EM, McWilliam P, Farrar GJ, Bradley DG, McConnell DJ, Kenna P, Sparkes RS, Spence MA, Heckenlively JR and Humphries P, Linkage analysis of human chromosome 4: exclusion of autosomal dominant retinitis pigmentosa and detection of new linkage groups Cytogen, Cell Genet, 50, 1989, p181 - 187 Journal Article, 1989

MCWILLIAM, P, FARRAR, GJ, KENNA, P, BRADLEY, DG, HUMPHRIES, MM, SHARP, EM, MCCONNELL, DJ, LAWLER, M, SHEILS, D, RYAN, C, STEVENS, K, DAIGER, SP, HUMPHRIES, P, AUTOSOMAL DOMINANT RETINITIS PIGMENTOSA (ADRP) - LOCALIZATION OF AN ADRP GENE TO THE LONG ARM OF CHROMOSOME-3, GENOMICS, 5, 1989, p619 - 622 Journal Article, 1989

Farrar GJ, McWilliam P, Sharp EM, Kenna P, Bradley DG, Humphries MM, McConnell DJ and Humphries P, Autosomal dominant retinitis pigmentosa: exclusion of a gene from extensive regions of chromosomes, 6, 13, 20 and 21, Genomics, 5, 1989, p619 - 622 Journal Article, 1989

RUSSELL, SEH, PEARSON, C, KELLY, M, MCQUAID, S, HUMPHRIES, P, LONG-TERM DOSING STUDIES USING MUTAGENIC CARCINOGENS INDICATE A HIGHLY SIGNIFICANT CORRELATION BETWEEN ELEVATIONS IN THE LEVEL OF RAT GLUTATHIONE-S-TRANSFERASE-P MESSENGER-RNA AND LIVER-TUMORS OF HEPATOCELLULAR ORIGIN, BIOCHEMICAL JOURNAL, 249, 1988, p105 - 109 Journal Article, 1988

FARRAR, GJ, LINKAGE ANALYSIS OF X-LINKED RETINITIS PIGMENTOSA (RP2) IN THE IRISH POPULATION, unknown, 1987, 46, ISI Web of Science, 1988, pp613 - 613 Meeting Abstract, 1988

FARRAR, GJ, GERAGHTY, MT, MOLONEY, JMB, MCCONNELL, DJ, HUMPHRIES, P, LINKAGE ANALYSIS OF X-LINKED RETINITIS PIGMENTOSA IN THE IRISH POPULATION, JOURNAL OF MEDICAL GENETICS, 25, 1988, p222 - 226 Journal Article, 1988

LAWLER, M, MCCANN, SR, DEARCE, MA, HUMPHRIES, P, A RAPID DOT-BLOT ASSAY TO ASSESS CHIMERISM FOLLOWING SEX-MISMATCHED BONE-MARROW TRANSPLANTATION, BONE MARROW TRANSPLANTATION, 3, 1988, p473 - 482 Journal Article, 1988

GILL M, MCKEON P, HUMPHRIES P, LINKAGE ANALYSIS OF MANIC DEPRESSION IN AN IRISH FAMILY USING H-RAS-1 AND INS DNA MARKERS, JOURNAL OF MEDICAL GENETICS, 25 (9): , (SEP), 1988, p634 - 637 Journal Article, 1988

Gill M, McKeon P, Humphries P., Linkage analysis of manic depression in an Irish family using H-ras 1 and INS DNA markers, J Med Genet, 25 , (9), 1988, p634 - 635 Journal Article, 1988

MCQUAID, S, OBRIEN, A, BUTLER, MR, HUMPHRIES, P, TRANSCRIPTIONAL ACTIVATION OF THE GLUTATHIONE S-TRANSFERASE-PI GENE IN HUMAN URETERIC AND BLADDER CARCINOMAS, CANCER LETTERS, 39, 1988, p209 - 216 Journal Article, 1988

LAWLER, M, MCCANN, SR, HUMPHRIES, P, A RAPID DOT BLOT ASSAY FOR CHIMERISM FOLLOWING SEX MISMATCHED BONE-MARROW TRANSPLANTATION, BONE MARROW TRANSPLANTATION, 3, 1988, p212 - 212 Journal Article, 1988

Russell SE, Pearson C, Kelly M, McQuaid S, Humphries P., Long-term dosing studies using mutagenic carcinogens indicate a highly significant correlation between elevations in the level of rat glutathione S-transferase P messenger RNA and liver tumours of hepatocellular origin, Biochem Journal, 249, (1), 1988, p105 - 109 Journal Article, 1988

MCQUAID, S, RUSSELL, SEH, WITHE, SA, PEARSON, CM, ELCOMBE, CR, HUMPHRIES, P, ANALYSIS OF TRANSCRIPTS HOMOLOGOUS TO ACYL-COA OXIDASE AND ENOYL-COA HYDRATASE 3-HYDROXYACYL-COA DEHYDROGENASE INDUCED IN RAT-LIVER BY METHYLCLOFENAPATE, CANCER LETTERS, 37, 1987, p115 - 121 Journal Article, 1987

McQuaid S, Russell SE, Withe SA, Pearson CM, Elcombe CR, Humphries P. , Analysis of transcripts homologous to acyl-CoA oxidase and enoyl-CoA hydratase/3-hydroxyacyl-CoA dehydrogenase induced in rat liver by methylclofenapate, Cancer Lett., 1, 1987, p115 - 121 Journal Article, 1987

HUMPHRIES, P, RUSSELL, SEH, MCWILLIAM, P, MCQUAID, S, PEARSON, C, HUMPHRIES, MM, OBSERVATIONS ON THE STRUCTURE OF 2 HUMAN 7SK PSEUDOGENES AND ON HOMOLOGOUS TRANSCRIPTS IN VERTEBRATE SPECIES, BIOCHEMICAL JOURNAL, 245, 1987, p281 - 284 Journal Article, 1987

Humphries P, Russell SE, McWilliam P, McQuaid S, Pearson C, Humphries MM, Observations on the structure of two human 7SK pseudogenes and on homologous transcripts in vertebrate species, Biochem, 245, (1), 1987, p281 - 284 Journal Article, 1987

Gardiner N, Lawler M, O'Riordan J, DeArce M, Humphries P, McCann SR., Persistent donor chimaerism is consistent with disease-free survival following BMT for chronic myeloid leukaemia, Bone Marrow Transplant, 20, (3), 1987, p235 - 241 Journal Article, 1987

HUMPHRIES, P, POLYMORPHIC DNA MARKERS GENETICALLY LINKED TO DISEASE-CAUSING GENES - A REVIEW, IRISH JOURNAL OF MEDICAL SCIENCE, 155, 1987, p425 - 430 Review, 1987

GERAGHTY, M, SARSFIELD, P, TEMPERLEY, I, HUMPHRIES, P, USE OF FACTOR-IX INTRAGENIC RECOMBINANT-DNA PROBES FOR EVALUATION OF CARRIER STATUS IN HEMOPHILIA-B FAMILIES OF IRISH ORIGIN, IRISH JOURNAL OF MEDICAL SCIENCE, 155, 1987, p419 - 424 Journal Article, 1987

Humphries P., Polymorphic DNA markers genetically linked to disease-causing genes, Ir J Med Sci., 155, (12), 1986, p425 - 430 Journal Article, 1986

Geraghty M, Sarsfield P, Temperley I, Humphries P., Use of factor IX intragenic recombinant DNA probes for evaluation of carrier status in haemophilia B families of Irish origin, Ir J Med Sci., 155, (12), 1986, p419 - 424 Journal Article, 1986

HUMPHRIES P, MACCABE AP, SPENCER RA, HUMPHRIES MM, PEARSON C, STRUCTURAL AND TRANSCRIPTIONAL PROPERTIES ASSOCIATED WITH A MEMBER OF A NEW FAMILY OF CONSERVED SHORT DISPERSED REPEATED ELEMENTS IN HUMAN DNA, GENE, 39, (2-3), 1985, p255 - 261 Journal Article, 1985

Humphries P, MacCabe AP, Spencer RA, Humphries MM, Pearson C., Structural and transcriptional properties associated with a member of a new family of conserved short dispersed repeated elements in human DNA, Gene, 39, (2-3), 1985, p255 - 261 Journal Article, 1985

Humphries P, Barton D, McKay AM, Humphries MM, Carritt B., Isolation of a polymorphic DNA segment unique to human chromosome 7 by molecular cloning of hybrid cell DNA, Mol Gen Genet, 190, (1), 1983, p143 - 149 Journal Article, 1983

Humphries, P., Consistent molecular genetic variation in human gastrointestinal carcinoma., Nature, 239, 1981, p146 - 148 Journal Article, 1981

Gordon RL, Humphries P and McConnell DJ., Restriction enzyme cleavage mapping of T7 virus early region, Mol Gen Genet, 162, 1978, p329 - 339 Journal Article, 1978

Humphries P, Old R, Coggins LW, McShane T, Watson C, Paul J., Recombinant plasmids containing Xenopus laevis globin structural genes derived from complementary DNA, Nucleic Acids Res., 5, (3), 1978, p905 - 924 Journal Article, 1978

Humphries P, Coggins LW, Old RW, Mitchell GJ, Coleclough C and Paul J. , Structure of recombinant plasmids containing synthetic human foetal globin gene sequences, Mol Gen Genet, 165, 1978, p65 - 71 Journal Article, 1978

Humphries P, Cochet M, Krust A, Gerlinger P, Kourilsky P, Chambon P., Molecular cloning of extensive sequences of the in vitro synthesized chicken ovalbumin structural gene, Nucleic Acids Res., 1977, p2389 - 406 Journal Article, 1977

Humphries P, McConnell DJ and Conneally P., Interaction of Escherichia coli DNA-dependent RNA polymerase and endonuclease R Hind fragments of T7 DNA, Biochim Biophys Acta 27, 366, (1), 1974, p70 - 80 Journal Article, 1974

Humphries P, Gordon RL, McConnell DJ and Conneally P., Endonuclease R. Hind fragments of T7 DNA, Virology, 58, (1), 1974, p25 - 31 Journal Article, 1974

Humphries P, McConnell DJ and Gordon RI., A procedure for the rapid purification of Escherichia coli deoxyribonucleic acid-dependent ribonucleic acid polymerase, Biochem Journal, 133, (1), 1973, p201 - 203 Journal Article, 1973

Non-Peer-Reviewed Publications

Modulation of tight junctions for delivery to the brain in, Advances in Non-Invasive Drug Delivery to the Brain, 2015, pp80 - 92, [Keaney J, Humphries P, Campbell M] Book Chapter, 2015 DOI

Research Expertise

Description

Globally, over 160 million people are estimated to be visually impaired, in spite of the fact that up to 70% of global visual handicap, caused by cataract, glaucoma, corneal opacities and infection, is treatable or preventable (including most open-angle glaucomas). In the developed World, conditions that are essentially eclipsed by the vastly more common forms of world blindness become very much more visible. These are the hereditary retinopathies (prominent among which is Retinitis Pigmentosa), Age-related Macular Degeneration (AMD) and Proliferative Diabetic Retinopathy (PDR). Also, possibly up to 10% of cases of Open-angle Glaucoma either do not respond adequately, or become resistant to conventional pressure-reducing medications. For three decades, Pete's research has been directed toward understanding the molecular pathologies associated with retinal degeneration, early studies focusing almost exclusively on hereditary retinopathies, for example, in the localization of genes for RP to chromosomes 3q (rhodopsin), 6p (RDS-peripherin) and 7q (inosine monophosphate dehydrogenase 1) and on the generation of targeted murine disease models. As a result of world efforts, it is now clear that hereditary retinopathies possibly represent the most genetically heterogeneous of any group of hereditary conditions for which molecular pathologies have been explored. On one hand, the progressive unfolding of an immensely complex genetic landscape has been inspirational, but on the other, and in a very much more translational sense, this same genetic heterogeneity presents an immensely significant challenge - developing gene medicines for what could be several hundred individually rather rare hereditary conditions is a major logistical and economic hurdle that must now be surmounted. In this regard, a major recent focus of research has been in the development of procedures for modulating permeability at the blood-brain and inner blood retina barriers such as to allow access to the brain and retina of systemically administered low molecular weight potentially protective compounds targeting molecular pathologies common to multiple forms of disease (protein misfolding or aggregation, oxidative stress, neuroprotection, etc) which could be used either singly or in a combinatorial sense together with gene therapies. More recently, multifactorial conditions, including AMD and glaucoma have become a major focus of research. Peter's work on the development of novel aspects of glaucoma therapy is supported by an advanced grant from the European Research Council.

Keywords

A-WAVE; ABNORMALITIES; ABSENCE; ACUTE LYMPHOBLASTIC-LEUKEMIA; ACUTE MYELOID-LEUKEMIA; ADAPTATION; ADRP; ALLOGENEIC MARROW; ALLOGENEIC TRANSPLANTATION; ALPHA-SUBUNIT; ANIMAL MODEL; ANTI-RAS RIBOZYME; ANTISENSE OLIGODEOXYNUCLEOTIDES; APLASTIC-ANEMIA; APOPTOSIS; ARM; ARTIFICIAL-CHROMOSOME VECTORS; AUTOSOMAL DOMINANT INHERITANCE; B-WAVE; BASEMENT-MEMBRANE; BCL-2; BINDING; BLOOD; BLUE; BMT; BONE; BONE-MARROW TRANSPLANTATION; BUPHTHALMOS; C-FOS; CAENORHABDITIS-ELEGANS; CARCINOMA; CAT; CELL-DEATH; CELLS; CHANNEL; CHILDHOOD CELIAC-DISEASE; CHILDREN; CHOROIDEREMIA; CHROMOSOME; CHROMOSOME-11; CHROMOSOME-3; CHROMOSOME-7Q; CHROMOSOME-POSITIVE LEUKEMIA; CHRONIC GRANULOCYTIC-LEUKEMIA; CLEAVAGE; CLONING; COLLAGEN MESSENGER-RNA; CONE; CONE DYSTROPHY; CONGENITAL STATIONARY NIGHT BLINDNESS; CONSERVATION; CONSTITUTIVE ACTIVATION; CONSTRUCTION; CULTURED-CELLS; CYTOKERATIN GENES; D1S103 LOCUS; D3S47 C17; DEGENERATION; DEGENERATION SLOW RDS; DELETION; DETACHMENT; DINUCLEOTIDE REPEAT POLYMORPHISM; DISEASE; DISK MEMBRANE; DISORDERS; DNA; DNA POLYMORPHISMS; DOMINANT RETINITIS-PIGMENTOSA; EPIDERMOLYSIS BULLOSA; EUKARYOTIC GENOMES; EXPRESSION; FAMILY; FOLDING PROBLEM; FORM; GENE; GENE THERAPY; GENETIC-HETEROGENEITY; GLAUCOMA; GLAUCOMA GENETICS; GLC3A; GRAFT; HAMMERHEAD RIBOZYME; HAMMERHEAD RIBOZYMES; HEMATOLOGIC MALIGNANCIES; HETEROGENEITY; HETEROZYGOSITY; HETEROZYGOUS MISSENSE MUTATION; HLA-DQ; HOST-DISEASE; HUMAN DNA; I COLLAGEN; IDENTIFICATION; IMMUNOFLUORESCENCE MICROSCOPY; IN-VITRO; INTERMEDIATE FILAMENTS; INTERMEDIATE-SIZED FILAMENTS; JUVENILE GLAUCOMA; KERATIN; KINETICS; LINKAGE; LINKAGE ANALYSIS; LOCUS; MAPS; MARROW STROMAL CELLS; MICROSATELLITES; MOLECULAR-CLONING; MOLECULAR-GENETICS; MOSAIC; MUTANT MICE; MUTATION; MUTATIONS; MYELOID-LEUKEMIA; MYOCILIN; NONHEMATOPOIETIC TISSUES; PATHOGENESIS; PCR; PCR DETECTION; PHOSDUCIN PDC; PHOTORECEPTOR DEGENERATION; POINT MUTATIONS; POLYMERASE CHAIN-REACTION; PREDICTION; PREVALENCE; PRIMARY CONGENITAL GLAUCOMA; PROLACTIN; PROTEIN; RECURRENCE; REGION; RETINAL DEGENERATIVE DISEASES; RETINITIS-PIGMENTOSA; RHODOPSIN; RHODOPSIN GENE; RIBOZYME-MEDIATED CLEAVAGE; RNA; ROD PHOTORECEPTORS; SECONDARY-STRUCTURE; SEQUENCE; SHORT ARM; SITES; SUBUNIT; TIGR; TURNER SYNDROME; VITRO

Recognition

Memberships

Retina International (IRPA)-Scientific and Medical Advisory Board

Foundation Fighting Blindness (USA)-Focus Group on Genetics and Genetic Technology

Dystrophic Epidermolysis Bullosa Research Association (DEBRA)-International Medical and Scientific Advisory Board

Member, Alcon Research Institute (USA)

Communicating Editor, Human Mutation

The Human Genome Organisation (HUGO)- Founder Irish Member

Editorial Board, Human Molecular Genetics

Irish Society of Human Genetics (President)

American Society of Human Genetics

Association for Research in Vision and Ophthalmology

Trinity College Neurosciences Institute (TCIN)

All-Ireland Retinal Researchers Network

Irish Network of Neuronal Stem-cell Investigators

Biopharmaceutical Sciences, Network

Fighting Blindness Ireland Medical and Scientific Advisory Board

Member of European Molecular Biology Organization

AMD (Age-Related Macular Dystrophy) Alliance International Scientific Advisory Panel

Medical Research Council (UK) Advisory Panel

Member, College of Reviewers for the Canada Research Chairs Programme

DSc University of Seged

Member, Royal Irish Academy

Fellow, Trinity College Dublin