Direct Costs of Epidermolysis Bullosa by Disease Severity von Flannery, Darragh, Doyle, Claire, Hickey, Sineád, Aherne, Fiona, Kennan, Avril

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A design-led framework for engaged research: Using a design approach to understand and place the public at the core of health and social care von Galvin, Mary, Kennan, Avril, Shé, Éidín Ní

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Prioritising Key Concepts for informed health choices in cancer: An evidence-based online educational programme von Li, Mengqi, Devane, Declan, Beecher, Claire, Dowling, Maura, Duffy, Austin G., Duggan, Caitriona, Grimes, David Robert, Kennan, Avril, Kilty, Claire, Nsangi, Allen, Oxman, Andrew D., Stewart, Derek C., Toomey, Elaine, Tierney, Marie

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Rare Disease Research Partnership (RAinDRoP): a collaborative approach to identify research priorities for rare diseases in Ireland von Somanadhan, Suja, Nicholson, Emma, Dorris, Emma, Brinkley, Aoife, Kennan, Avril, Treacy, Eileen, Atif, Awan, Ennis, Sean, McGrath, Vicky, Mitchell, Derick, O’Sullivan, Grace, Power, Julie, Lawlor, Anne, Harkin, Paul, Lynch, Sally Ann, Watt, Philip, Daly, Avril, Donnelly, Susie, Kroll, Thilo

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Prioritising Informed Health Choices Key Concepts for those impacted by cancer: a protocol von Li, Mengqi, Devane, Declan, Beecher, Claire, Duffy, Austin G, Duggan, Caitriona, Dowling, Maura, Grimes, David Robert, Kennan, Avril, McLoughlin, Sarah, Nsangi, Allen, Oxman, Andrew D, O'Connor, Robert, Stewart, Derek C, Toomey, Elaine, Tierney, Marie

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Toward a Gene Therapy for Dominant Disease: Validation of an RNA Interference-Based Mutation-Independent Approach von Kiang, Anna-Sophia, Palfi, Arpad, Ader, Marius, Kenna, Paul F, Millington-Ward, Sophia, Clark, Gerry, Kennan, Avril, O'reilly, Mary, Tam, Lawrence C T, Aherne, Aileen, McNally, Niamh, Humphries, Pete, Farrar, G Jane

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Direct Costs of Epidermolysis Bullosa by Disease Severity von FLANNERY, Darragh, DOYLE, Claire, HICKEY, Sinead, AHERNE, Fiona, KENNAN, Avril

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Light in retinitis pigmentosa von Kennan, Avril, Aherne, Aileen, Humphries, Pete

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Identification of an IMPDH1 mutation in autosomal dominant retinitis pigmentosa (RP10) revealed following comparative microarray analysis of transcripts derived from retinas of wil... von KENNAN, Avril, AHERNE, Aileen, KENNA, Paul F, FARRAR, G. Jane, HUMPHRIES, Pete, PALFI, Arpad, HUMPHRIES, Marian, MCKEE, Alex, STITT, Alan, SIMPSON, David A. C, DEMTRODER, Karin, ORNTOFT, Torben, AYUSO, Carmen

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Rare Disease Research Partnership (RAinDRoP): a collaborative approach to identify the top 15 research priorities for rare diseases von Somanadhan, Suja, Nicholson, Emma, Dorris, Emma, Brinkley, Aoife, Kennan, Avril, Treacy, Eileen, Atif, Awan, Ennis, Sean, McGrath, Vicky, Mitchell, Derick, O’Sullivan, Grace, Power, Julie, Lawlor, Anne, Harkin, Paul, Lynch, Sally Ann, Watt, Philip, Daly, Avril, Donnelly, Susie, Kroll, Thilo

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Adopting a Sustainable Community of Practice Model when Developing a Service to Support Patients with Epidermolysis Bullosa (EB): A Stakeholder-Centered Approach von Gowran, Rosemary Joan, Kennan, Avril, Marshall, Siobhán, Mulcahy, Irene, Ní Mhaille, Sile, Beasley, Sarah, Devlin, Mark

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Therapeutic benefit derived from RNAi-mediated ablation of IMPDH1 transcripts in a murine model of autosomal dominant retinitis pigmentosa (RP10) von Tam, Lawrence C.S., Kiang, Anna-Sophia, Kennan, Avril, Kenna, Paul F., Chadderton, Naomi, Ader, Marius, Palfi, Arpad, Aherne, Aileen, Ayuso, Carmen, Campbell, Matthew, Reynolds, Alison, McKee, Alex, Humphries, Marian M., Farrar, G. Jane, Humphries, Pete

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On the molecular pathology of neurodegeneration in IMPDH1-based retinitis pigmentosa von Aherne, Aileen, Kennan, Avril, Kenna, Paul F., McNally, Niamh, Lloyd, David G., Alberts, Ian L., Kiang, Anna-Sophia, Humphries, Marian M., Ayuso, Carmen, Engel, Paul C., Gu, Jing Jin, Mitchell, Beverly S., Farrar, G. Jane, Humphries, Pete

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Characterization of RP1L1, a highly polymorphic paralog of the retinitis pigmentosa 1 (RP1) gene von Bowne, Sara J, Daiger, Stephen P, Malone, Kimberly A, Heckenlively, John R, Kennan, Avril, Humphries, Peter, Hughbanks-Wheaton, Dianna, Birch, David G, Liu, Qin, Pierce, Eric A, Zuo, Jian, Huang, Qian, Donovan, Danyel D, Sullivan, Lori S

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Strategems in Vitro for Gene Therapies Directed to Dominant Mutations von Millington-Ward, Sophia, O'Neill, Brian, Tuohy, Gearoid, Al-Jandal, Najma, Kiang, Anna-Sophia, Kenna, Paul F., Palfi, Arpad, Hayden, Patrick, Mansergh, Fiona, Kennan, Avril, Humphries, Peter, Farrar, G. Jane

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A novel Asp380Ala mutation in the GLC1A/myocilin gene in a family with juvenile onset primary open angle glaucoma von Kennan, A M, Mansergh, F C, Fingert, J H, Clark, T, Ayuso, C, Kenna, P F, Humphries, P, Farrar, G J

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Retinitis Pigmentosa and Progressive Sensorineural Hearing Loss Caused by a C12258A Mutation in the Mitochondrial MTTS2 Gene von Mansergh, Fiona C., Millington-Ward, Sophia, Kennan, Avril, Kiang, Anna-Sophia, Humphries, Marian, Farrar, G. Jane, Humphries, Peter, Kenna, Paul F.

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Evaluation of human diacylglycerol kinaseι, DGKI, a homolog of Drosophila rdgA, in inherited retinopathy mapping to 7q von Bowne, Sara J., Sullivan, Lori S., Ding, Li, Traer, Elie, Prescott, Stephen M., Birch, David G., Kennan, Avril, Humphries, Peter, Daiger, Stephen P.

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METHODS AND REAGENTS FOR TREATING AUTOSOMAL DOMINANT DISEASES OF THE EYE von AHERNE, AILEEN, KENNAN, AVRIL, HUMPHRIES, PETER, FARRAR, JANE, KENNA, PAUL, MCNALLY, NIAMH

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Molecular Mechanisms of Photoreceptor Degeneration in RP Caused by IMPDH1 Mutations von Aherne, Aileen, Kennan, Avril, Kenna, Paul F., McNally, Niamh, Farrar, G. Jane, Humphries, Pete

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