Marian Humphries
Research Fellow, 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 DOI URL TARA - Full Text

Doherty C.P, O'Keefe E, Wallace E, Loftus T, Keaney J, Kealy J, Humphries M.M, Molloy M.G, Meaney J.F, Farrell M, Campbell M, Blood-Brain Barrier Dysfunction as a Hallmark Pathology in Chronic Traumatic Encephalopathy, Journal of Neuropathology and Experimental Neurology, 75, (7), 2016, p656 - 662 Journal Article, 2016 URL DOI

Keaney J, Walsh DM, O'Malley T, Hudson N, Crosbie DE, Loftus T, Sheehan F, McDaid J, Humphries MM, Callanan JJ, Brett FM, Farrell MA, Humphries P, Campbell M., Autoregulated paracellular clearance of amyloid-β across the blood-brain barrier., Science Advances, 1, (8), 2015, p10.1126/sci adv.1500472 Journal Article, 2015

Comitato A, Sanges D, Rossi A, Humphries M.M, Marigo V, Activation of Bax in three models of retinitis pigmentosa, Investigative Ophthalmology and Visual Science, 55, (6), 2014, p3555 - 3562 Journal Article, 2014 DOI URL

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

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

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

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, 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

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

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

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

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

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

Campbell*, M, Doyle*, SL, Ozaki, E, Salomon, RG, Mori, A, Kenna, PF, Kiang, AS, Humphries, MM, Lavelle, EC, O'Neill, LAJ, Hollyfield, JG, and Humphries, P, NLRP3 plays a protective role during the development of age related macular degeneration through the induction of IL-18 by drusen components., Nature Medicine, 18, (5), 2012, p791 - 798 Journal Article, 2012 DOI

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

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

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 Journal Article, 2011

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

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

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

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

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

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

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

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

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

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 Journal Article, 2010

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

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

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

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 DOI TARA - Full Text

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

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

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

Campbell M, Humphries M, Kennan A, Kenna P, Humphries P & Brankin B, Aberrant retinal tight junction and adherens junction protein expression in an animal model of autosomal dominant retinitis pigmentosa, Experimental Eye Research, 83, (3), 2006, p484 - 492 Journal Article, 2006

Aherne A, Kennan A, Kenna PF, McNally N, Lloyd DG, Alberts IL, Kiang A-S, Humphries MM, Ayuso C, Engel PC, Mitchell BS, Farrar GJ, Humphries P, On the molecular pathology of neurodegeneration in IMPDH1-based retinitis pigmentosa , Human Molecular Genetics, 13, (6), 2004, p641 - 650 Journal Article, 2004 URL DOI

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

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, Invest Ophthalmol Vis Sci, 44, (8), 2003, p3526 - 3532 Journal Article, 2003

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 URL TARA - Full Text

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

MCNALLY, N, KENNA, PF, RANCOURT, D, AHMED, T, STITT, A, COLLEDGE, WH, LLOYD, DG, PALFI, A, ONEILL, 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, 2002, p1005 - 1016 Journal Article, 2002

McNally N, Kenna P, Rancourt D, Ahmed T, Stitt A, Colledge W, Lloyd 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

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

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

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

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

Mansergh FC, Millington-Ward, 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 Human Genet., 64, 1999, p971 - 985 Journal Article, 1999

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

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

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

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

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

Humphries MM, Autosomal dominant retinitis pigmentosa: A novel mutation in the rhodopsin gene in the originbal 3q linked family, Hum Mol Genet., 9, 1993, p769 - 771 Journal Article, 1993

Humphries MM, Autosomal dominant retinitis pigmentosa: A novel mutation in the rhodopsin gene in the originbal 3q linked family, Hum Mol Genet., 9, 1993, p769 - 771 Journal Article, 1993

Extensive genetic heterogeneity in autosomal dominant retinitis pigmentosa in, Retinal Degenerations, New York, Plenum Pr3ess, 1993, pp63 - 77, [Farrar GJ, Jordan SA, Kumar-Singh R, Inglehearn CF, Gal A, Gregory C, Al-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

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

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

JORDAN, SA FARRAR, GJ KENNA, P KUMARSINGH, R HUMPHRIES, MM SHARP, EM, AUTOSOMAL DOMINANT RETINITIS-PIGMENTOSA (ADRP) - LOCALIZATION OF A GENE SEGREGATING IN AN IRISH FAMILY TO CHROMOSOME-6P, CYTOGENETICS AND CELL GENETICS, 62 , 1993, p81 Journal Article, 1993

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 - 453 Journal Article, 1992

Farrar GJ, Kenna P, Jordan SA, Kumar-Singh R, Humphries MM, Sharp EM, Sheils D and Humphries P., Autosomal dominant retinitis pigmentosa: a novel mutation at the peripherin/RDS locus in the original 6p-linked pedigree, Genomics, 14, 1992, p805 - 807 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

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

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, 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

Autosomal dominant retinitis pigmentosa (RP4): analysis of mutations within the rhodopsin gene in, editor(s)Humphries P, Bhattacharya S and Bird A , Retinitis Pigmentosa: Advances in Clinical and Genetic Research, Florida, CRC Press, 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] Book Chapter, 1991

FARRAR, GJ MCWILLIAM, P KENNA, P JORDAN, S SINGH, R HUMPHRIES, MM, SHARP, EM SHEILS, D LAWLER, M HUMPHRIES, P, CONTINUED GENETIC-LINKAGE STUDIES IN AUTOSOMAL DOMINANT, AMERICAN JOURNAL OF HUMAN GENETICS, 49, 1991, p2 Journal Article, 1991

Progress in the localization of a late-onset adRP gene in, editor(s)Hollyfield, Anderson and LaVail , Retinal Degenerations, Florida, CRC Press, 1991, pp369 - 373, [McWilliam P, Jordam S, Kenna P, Humphr4ies MM, Kumar-Singh R, Sharp EM and Humphries P] Book Chapter, 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 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

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, 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 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

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, 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

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

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

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

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

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

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, 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

Non-Peer-Reviewed Publications

Humphries P, Humphries MM, Tam LC, Farrar GJ, Kenna PF, Campbell M, Kiang A-S. , Hereditary retinopathies: progress in development of genetic and molecular therapies., SpringerBriefs in Genetics, Springer NY. , 2013 Book, 2013

Research Expertise

Description

Human Molecular/Medical Genetics with special interest in hereditary neurodegenerative diseases of the retina and blistering disorders of the skin. Generation of animal models for retinal disease.

Keywords

ABNORMALITIES; ABSENCE; ADRP; ANIMAL MODEL; APOPTOSIS; ARM; B-WAVE; BASEMENT-MEMBRANE; C-FOS; CAT; CELL-DEATH; CELLS; CHROMOSOME-3; CONE; CONGENITAL STATIONARY NIGHT BLINDNESS; CONSERVATION; CONSTITUTIVE ACTIVATION; CULTURED-CELLS; CYTOKERATIN GENES; DELETION; DETACHMENT; DISEASE; DISK MEMBRANE; DNA POLYMORPHISMS; DOMINANT RETINITIS-PIGMENTOSA; ELECTRORETINOGRAM; EPIDERMOLYSIS BULLOSA; EXPRESSION; FOLDING PROBLEM; FORM; GENE; GENETIC-HETEROGENEITY; HETEROGENEITY; HETEROZYGOUS MISSENSE MUTATION; IMMUNOFLUORESCENCE MICROSCOPY; INTERMEDIATE FILAMENTS; INTERMEDIATE-SIZED FILAMENTS; KERATIN; LIGHT; LINKAGE; LINKAGE ANALYSIS; MOLECULAR-CLONING; MUTANT MICE; MUTATION; MUTATIONS; PCR DETECTION; POINT MUTATIONS; POLYMERASE CHAIN-REACTION; PREVALENCE; RETINITIS-PIGMENTOSA; RHODOPSIN; RHODOPSIN GENE; SUBUNIT

Recognition

Memberships

Irish Network of Neuronal Stem-cell Investigators

All-Ireland Retinal Researchers Network

Trinity College Neurosciences Institute (TCIN)

Association for Research in Vision and Ophthalmology (ARVO)

American Society of Human Genetics

Irish Society of Human Genetics – present

European Vision Institute