P. Kenna

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Assessing cone photoreceptor structure in patients with mutations in the OPN1LW/OPN1MW gene array

M. Neitz, M. Michaelides, J. Carroll, 2017 .

An overview of the involvement of interleukin-18 in degenerative retinopathies.

P. Humphries, P. Kenna, Sarah L. Doyle, 2014, Advances in experimental medicine and biology.

Findings from a Genotyping Study of over 1000 People with Inherited Retinal Disorders in Ireland

D. Keegan, G. Silvestri, P. Humphries, 2020, Genes.

Variation in the electroretinogram of C57BL/6 substrains of mouse.

Alison L. Reynolds, P. Humphries, G. Farrar, 2008, Advances in experimental medicine and biology.

Advanced late-onset retinitis pigmentosa with dominant-acting D477G RPE65 mutation is responsive to oral synthetic retinoid therapy

P. Brabet, P. Humphries, R. Koenekoop, 2020, BMJ Open Ophthalmology.

Novel mutations in the TIGR gene in early and late onset open angle glaucoma

F. Mansergh, P. Humphries, C. Ayuso, 1998, Human mutation.

A novel Asp380Ala mutation in the GLC1A/myocilin gene in a family with juvenile onset primary open angle glaucoma.

A. Kennan, F. Mansergh, P. Humphries, 1998, Journal of medical genetics.

AAV-PHP.eB transduces both the inner and outer retina with high efficacy in mice

P. Humphries, G. Farrar, P. Kenna, 2022, Molecular therapy. Methods & clinical development.

Adeno-associated virus-mediated rhodopsin replacement provides therapeutic benefit in mice with a targeted disruption of the rhodopsin gene.

U. Wolfrum, Tiansen Li, T. Goldmann, 2010, Human gene therapy.

AAV-Mediated Rhodopsin Replacement Provides Therapeutic Benefit in Mice with a Targeted Disruption of the Rhodopsin Gene

U. Wolfrum, T. Goldmann, M. O'Reilly, 2009 .

Intravitreal delivery of AAV-NDI1 provides functional benefit in a murine model of Leber hereditary optic neuropathy

U. Wolfrum, N. Overlack, M. O'Reilly, 2012, European Journal of Human Genetics.

Comparative structural and functional analysis of photoreceptor neurons of Rho-/- mice reveal increased survival on C57BL/6J in comparison to 129Sv genetic background

P. Sieving, T. Cotter, M. Donovan, 2001, Visual Neuroscience.

Target 5000: a standardized all-Ireland pathway for the diagnosis and management of inherited retinal degenerations

D. Keegan, R. Pandey, G. Silvestri, 2021, Orphanet Journal of Rare Diseases.

Dysregulated claudin-5 cycling in the inner retina causes retinal pigment epithelial cell atrophy.

C. Grimm, M. Cahill, Annie M Curtis, 2019, JCI insight.

Development of strategies for conditional RNA interference

M. O'Reilly, P. Humphries, G. Farrar, 2007, The journal of gene medicine.

Protein misfolding and potential therapeutic treatments in inherited retinopathies.

P. Humphries, G. Farrar, P. Kenna, 2012, Advances in experimental medicine and biology.

Prevention of autosomal dominant retinitis pigmentosa by systemic drug therapy targeting heat shock protein 90 (Hsp90).

P. Humphries, G. Farrar, P. Kenna, 2010, Human molecular genetics.

Retinitis pigmentosa and schizophrenia

P. Kenna, C. McDonald, T. Larkin, 1998, European Psychiatry.

Autosomal dominant retinitis pigmentosa: exclusion of the gene from the short arm of chromosome 1 including the region surrounding the rhesus locus.

D. McConnell, S. Daiger, D. Bradley, 1989, American journal of human genetics.

Validation in mesenchymal progenitor cells of a mutation-independent ex vivo approach to gene therapy for osteogenesis imperfecta.

P. Conget, P. Humphries, G. Farrar, 2002, Human molecular genetics.

SARM1 Ablation Is Protective and Preserves Spatial Vision in an In Vivo Mouse Model of Retinal Ganglion Cell Degeneration

A. Bowie, G. Farrar, P. Kenna, 2022, International journal of molecular sciences.

Calpain and photoreceptor apoptosis.

P. Humphries, P. Kenna, M. Campbell, 2012, Advances in experimental medicine and biology.

A novel mutation within the rhodopsin gene (Thr‐94‐Ile) causing autosomal dominant congenital stationary night blindness

J. Findlay, P. Humphries, P. Kenna, 1999, Human mutation.

Multimodal imaging in a pedigree of X-linked Retinoschisis with a novel RS1 variant

D. Keegan, N. Wynne, M. Carrigan, 2018, BMC Medical Genetics.

Strategems in vitro for gene therapies directed to dominant mutations.

A. Kennan, F. Mansergh, P. Humphries, 1997, Human molecular genetics.

A Novel FLVCR1 Variant Implicated in Retinitis Pigmentosa.

D. Keegan, N. Wynne, M. Carrigan, 2019, Advances in experimental medicine and biology.

Localization of an autosomal dominant retinitis pigmentosa gene to chromosome 7q

P. Humphries, C. Ayuso, P. Kenna, 1993, Nature Genetics.

A mutation (met→arg) in the type I keratin (K14) gene responsible for autosomal dominant epidermolysis bullosa simplex

F. Mansergh, P. Humphries, G. Farrar, 1993, Human mutation.

Autosomal dominant retinitis pigmentosa: a novel mutation in the rhodopsin gene in the original 3q linked family.

P. Humphries, P. Kenna, R. Kumar‐Singh, 1992, Human molecular genetics.

Cell therapy using retinal progenitor cells shows therapeutic effect in a chemically-induced rotenone mouse model of Leber hereditary optic neuropathy

F. Mansergh, O. Gobbo, G. Farrar, 2014, European Journal of Human Genetics.

AAV‐mediated gene therapy improving mitochondrial function provides benefit in age‐related macular degeneration models

T. Léveillard, Alan W. Stitt, T. Gardiner, 2022, Clinical and translational medicine.

Apoptotic photoreceptor death in the rhodopsin knockout mouse in the presence and absence of c-fos.

T. Cotter, R. Carmody, M. Donovan, 2000, Experimental eye research.

On the role of IMPDH1 in retinal degeneration.

A. Kennan, A. Aherne, S. Daiger, 2003, Advances in experimental medicine and biology.

claudin-5 cycling in the inner retina causes retinal pigment

J. Callanan, P. Humphries, M. Lawrence, 2019 .

A sequence polymorphism in the human peripherin/RDS gene.

P. Humphries, P. Kenna, S. Jordan, 1991, Nucleic acids research.

Protection of photoreceptors in a mouse model of RP10.

P. Humphries, G. Farrar, P. Kenna, 2010, Advances in experimental medicine and biology.

Retinal cells integrate into the outer nuclear layer and differentiate into mature photoreceptors after subretinal transplantation into adult mice.

G. Richard, P. Humphries, G. Farrar, 2008, Experimental eye research.

A Novel Retinal Ganglion Cell Promoter for Utility in AAV Vectors

Alfonso Blanco Fernández, P. Humphries, G. Farrar, 2017, Front. Neurosci..

Retinopathy induced in mice by targeted disruption of the rhodopsin gene

P. Sieving, M. Capecchi, K. Gulya, 1997, Nature Genetics.

NLRP3 has a protective role in age-related macular degeneration through the induction of IL-18 by drusen components

J. Hollyfield, E. Lavelle, L. O’Neill, 2012, Nature Medicine.

On further development of barrier modulation as a technique for systemic ocular drug delivery.

Finnian Hanrahan, P. Humphries, O. Gobbo, 2012, Advances in experimental medicine and biology.

A mutation-independent therapeutic strategem for osteogenesis imperfecta.

P. Humphries, G. Farrar, P. Kenna, 1999, Antisense & nucleic acid drug development.

Gene-Based Medicines Targeting Genetic Defects Directly and Molecular Pathologies Common to Multiple Forms of Disease

P. Humphries, G. Farrar, P. Kenna, 2012 .

Hereditary Retinopathies

P. Humphries, G. Farrar, P. Kenna, 2012, SpringerBriefs in Genetics.

Altered retinal microRNA expression profile in a mouse model of retinitis pigmentosa

A. Ivens, K. Hokamp, P. Humphries, 2007, Genome Biology.

Gene Therapy for Dominantly Inherited Retinal Degeneration

G. Farrar, P. Kenna, A. Palfi, 2015 .

Influence of a quantitative trait locus on mouse chromosome 19 to the light-adapted electroretinogram.

Alison L. Reynolds, P. Humphries, G. Farrar, 2008, Investigative ophthalmology & visual science.

Autosomal dominant retinitis pigmentosa: exclusion of a gene from extensive regions of chromosomes 6, 13, 20, and 21.

D. McConnell, D. Bradley, P. Humphries, 1989, Genomics.

Panel-Based Population Next-Generation Sequencing for Inherited Retinal Degenerations

D. Keegan, P. Humphries, C. Malone, 2016, Scientific Reports.

A dominant mutation in RPE65 identified by whole-exome sequencing causes retinitis pigmentosa with choroidal involvement

R. Fulton, G. Weinstock, L. Ding, 2011, European Journal of Human Genetics.

Retinitis pigmentosa and progressive sensorineural hearing loss caused by a C12258A mutation in the mitochondrial MTTS2 gene.

A. Kennan, F. Mansergh, P. Humphries, 1999, American journal of human genetics.

microRNA regulatory circuits in a mouse model of inherited retinal degeneration

K. Hokamp, C. Greene, S. Hauck, 2016, Scientific Reports.

Optimized OPA1 Isoforms 1 and 7 Provide Therapeutic Benefit in Models of Mitochondrial Dysfunction

D. Keegan, P. Humphries, G. Farrar, 2020, Frontiers in Neuroscience.

Dose-dependent expression of claudin-5 is a modifying factor in schizophrenia

N. Williams, K. Murphy, J. Hou, 2017, Molecular Psychiatry.

Systemic low-molecular weight drug delivery to pre-selected neuronal regions

Finnian Hanrahan, P. Humphries, O. Gobbo, 2011, EMBO molecular medicine.

On the genetics of retinitis pigmentosa and on mutation‐independent approaches to therapeutic intervention

P. Humphries, G. Farrar, P. Kenna, 2002, The EMBO journal.

Study of gene-targeted mouse models of splicing factor gene Prpf31 implicated in human autosomal dominant retinitis pigmentosa (RP).

T. Léveillard, N. Tanimoto, S. Beck, 2009, Investigative ophthalmology & visual science.

On the molecular genetics of retinitis pigmentosa.

P. Humphries, P. Kenna, G. J. Farrar, 1992, Science.

A three-base-pair deletion in the peripherin–RDS gene in one form of retinitis pigmentosa

P. Humphries, P. Kenna, S. Jordan, 1991, Nature.

Autosomal dominant retinitis pigmentosa (ADRP): localization of an ADRP gene to the long arm of chromosome 3.

D. McConnell, S. Daiger, D. Bradley, 1989, Genomics.

AAV-Delivered Tulp1 Supplementation Therapy Targeting Photoreceptors Provides Minimal Benefit in Tulp1−/− Retinas

P. Humphries, G. Farrar, P. Kenna, 2020, Frontiers in Neuroscience.

Suppression and Replacement Gene Therapy for Autosomal Dominant Disease in a Murine Model of Dominant Retinitis Pigmentosa

U. Wolfrum, J. Bennett, T. Goldmann, 2011, Molecular therapy : the journal of the American Society of Gene Therapy.

Autosomal dominant retinitis pigmentosa: absence of the rhodopsin proline----histidine substitution (codon 23) in pedigrees from Europe.

M. Jay, S. Bhattacharya, D. Bradley, 1990, American journal of human genetics.

Autosomal dominant retinitis pigmentosa: linkage to rhodopsin and evidence for genetic heterogeneity.

H. Eiberg, D. Bradley, J. Trofatter, 1990, Genomics.

Gene-based therapies for dominantly inherited retinopathies

P. Humphries, G. Farrar, P. Kenna, 2011, Gene Therapy.

RNAi‐based suppression and replacement of rds‐peripherin in retinal organotypic culture

M. O'Reilly, P. Humphries, G. Farrar, 2006, Human mutation.

Toward a gene therapy for dominant disease: validation of an RNA interference-based mutation-independent approach.

A. Kennan, A. Aherne, M. O'Reilly, 2005, Molecular therapy : the journal of the American Society of Gene Therapy.

Efficient gene delivery to photoreceptors using AAV2/rh10 and rescue of the Rho–/– mouse

U. Wolfrum, J. Bennett, K. Nagel-Wolfrum, 2015, Molecular therapy. Methods & clinical development.

RNA interference-mediated suppression and replacement of human rhodopsin in vivo.

M. O'Reilly, T. Tuohy, M. Hildinger, 2007, American journal of human genetics.

Efficacy of codelivery of dual AAV2/5 vectors in the murine retina and hippocampus.

Alfonso Blanco Fernández, P. Humphries, G. Farrar, 2012, Human gene therapy.

Reference gene selection for real-time rtPCR in human epidermal keratinocytes.

P. Humphries, G. Farrar, P. Kenna, 2008, Journal of dermatological science.

Therapeutic benefit derived from RNAi-mediated ablation of IMPDH1 transcripts in a murine model of autosomal dominant retinitis pigmentosa (RP10).

Alison L. Reynolds, A. Kennan, A. Aherne, 2008, Human molecular genetics.

IL-18 Immunotherapy for Neovascular AMD: Tolerability and Efficacy in Nonhuman Primates.

Francisco J. López, P. Adamson, P. Humphries, 2015, Investigative ophthalmology & visual science.

Target 5000: Target Capture Sequencing for Inherited Retinal Degenerations

D. Keegan, G. Silvestri, P. Humphries, 2017, Genes.

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.

A. Kennan, A. Aherne, Alan W. Stitt, 2002, Human molecular genetics.

Whole genome sequencing and in vitro splice assays reveal genetic causes for inherited retinal diseases

F. Cremers, C. Gilissen, C. Hoyng, 2021, npj Genomic Medicine.

BBS1 branchpoint variant is associated with non-syndromic retinitis pigmentosa

F. Cremers, C. Gilissen, C. Hoyng, 2021, Journal of Medical Genetics.

Autosomal dominant retinitis pigmentosa (adRP; RP6): cosegregation of RP6 and the peripherin-RDS locus in a late-onset family of Irish origin.

P. Humphries, P. Kenna, S. Jordan, 1992, American journal of human genetics.

Autosomal dominant retinitis pigmentosa: localization of a disease gene (RP6) to the short arm of chromosome 6.

P. Humphries, P. Kenna, S. Jordan, 1991, Genomics.

Retinitis pigmentosa: genetic mapping in X‐linked and autosomal forms of the disease

P. Humphries, P. Kenna, G. J. Farrar, 1990, Clinical genetics.

Three keratin gene mutations account for the majority of dominant simplex epidermolysis bullosa cases within the population of Ireland

F. Mansergh, P. Humphries, P. Kenna, 1996, Human mutation.

Clinical and molecular genetic characterisation of a family segregating autosomal dominant retinitis pigmentosa and sensorineural deafness

F. Mansergh, P. Humphries, P. Kenna, 1997, The British journal of ophthalmology.

Ocular findings associated with a rhodopsin gene codon 58 transversion mutation in autosomal dominant retinitis pigmentosa.

V. Sheffield, G. Fishman, E. Stone, 1991, Archives of ophthalmology.

Epidermolysis bullosa: evidence for linkage to genetic markers on chromosome 1 in a family with the autosomal dominant simplex form.

D. Bradley, P. Kenna, E. Gaffney, 1990, Genomics.

Chapter 10 Autosomal dominant retinitis pigmentosa: Molecular, genetic and clinical aspects

P. Humphries, P. Kenna, G. J. Farrar, 1993 .

Autosomal dominant retinitis pigmentosa (adRP): exclusion of a gene from three mapped loci provides evidence for the existence of a fourth locus.

P. Humphries, C. Ayuso, P. Kenna, 1992, Human molecular genetics.

Transplantation of syngeneic Schwann cells to the retina of the rhodopsin knockout (rho(-/-)) mouse.

R. Lund, P. Coffey, D. Keegan, 2003, Investigative ophthalmology & visual science.

Evidence for genetic heterogeneity in Best's vitelliform macular dystrophy.

T. Meitinger, F. Mansergh, P. Kenna, 1995, Journal of medical genetics.

Optimisation of AAV-NDI1 Significantly Enhances Its Therapeutic Value for Correcting Retinal Mitochondrial Dysfunction

M. O'Reilly, P. Humphries, M. Carrigan, 2023, Pharmaceutics.

Toward an elucidation of the molecular genetics of inherited retinal degenerations

P. Humphries, M. Carrigan, G. Farrar, 2017, Human molecular genetics.

Improved retinal function in a mouse model of dominant retinitis pigmentosa following AAV-delivered gene therapy.

Tiansen Li, M. O'Reilly, P. Humphries, 2009, Molecular therapy : the journal of the American Society of Gene Therapy.

Structural and functional rescue of murine rod photoreceptors by human rhodopsin transgene.

P. Sieving, N. Khan, P. Humphries, 1999, Human molecular genetics.

Autosomal Dominant Retinitis Pigmentosa

P. Humphries, P. Kenna, G. J. Farrar, 1994 .

New dimensions in macular dystrophies

P. Humphries, P. Kenna, G. J. Farrar, 1994, Nature Genetics.

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).

S. Bhattacharya, F. Mansergh, P. Humphries, 1993, Human molecular genetics.

EXTENSIVE GENETIC HETEROGENEITY IN AUTOSOMAL DOMINANT RETINITIS PIGMENTOSA

S. Bhattacharya, C. Inglehearn, P. Hargrave, 1993 .

Autosomal dominant retinitis pigmentosa: a novel mutation at the peripherin/RDS locus in the original 6p-linked pedigree.

P. Humphries, P. Kenna, S. Jordan, 1992, Genomics.

Polymorphic variation within “conserved” sequences at the 3′ end of the human RDS gene which results in amino acid substitutions

P. Humphries, P. Kenna, S. Jordan, 1992, Human mutation.

Autosomal dominant retinitis pigmentosa: a mutation in codon 178 of the rhodopsin gene in two families of Celtic origin.

P. Humphries, P. Kenna, S. Jordan, 1991, Genomics.

Linkage analysis of human chromosome 4: exclusion of autosomal dominant retinitis pigmentosa (ADRP) and detection of new linkage groups.

D. McConnell, S. Daiger, D. Bradley, 1989, Cytogenetics and cell genetics.

On the Molecular Genetics of Retinitis Pigmentosa

P. Humphries, P. Kenna, G. Farrar, 1992, Science.

RNAi‐mediated reversible opening of the blood‐brain barrier

P. Humphries, A. Tivnan, G. Farrar, 2008, The journal of gene medicine.

Evidence for nonallelic genetic heterogeneity in autosomal recessive retinitis pigmentosa.

E. Schwinger, A. Bergen, P. Humphries, 1992, Genomics.

RNAi of COL1A1 in mesenchymal progenitor cells

P. Humphries, G. Farrar, P. Kenna, 2004, European Journal of Human Genetics.

Mitochondrial disorders: aetiologies, models systems, and candidate therapies.

G. Farrar, P. Kenna, G Jane Farrar, 2013, Trends in genetics : TIG.

On the molecular pathology of neurodegeneration in IMPDH1-based retinitis pigmentosa.

I. Alberts, A. Kennan, A. Aherne, 2004, Human molecular genetics.

The Natural History of Leber’s Hereditary Optic Neuropathy in an Irish Population and Assessment for Prognostic Biomarkers

P. Kenna, K. Stephenson, L. Cassidy, 2022, Neuro-ophthalmology.

Altered expression and interaction of adherens junction proteins in the developing OLM of the Rho(-/-) mouse.

P. Humphries, P. Kenna, M. Campbell, 2007, Experimental eye research.

An experimental platform for systemic drug delivery to the retina

P. Humphries, O. Gobbo, G. Farrar, 2009, Proceedings of the National Academy of Sciences.

IL-18 Attenuates Experimental Choroidal Neovascularization as a Potential Therapy for Wet Age-Related Macular Degeneration

P. Adamson, P. Fallon, E. Lavelle, 2014, Science Translational Medicine.

C1q enhances cone photoreceptor survival in a mouse model of autosomal recessive retinitis pigmentosa

P. Humphries, P. Kenna, M. Botto, 2011, European Journal of Human Genetics.

RPE-Directed Gene Therapy Improves Mitochondrial Function in Murine Dry AMD Models

P. Humphries, M. Carrigan, G. Farrar, 2023, International journal of molecular sciences.

Optic Nerve Structural and Functional Changes in LHON-Affected and Asymptomatic Maternal Relatives: Association with H and HV Mitochondrial Haplogroups

P. Kenna, K. Stephenson, C. Quigley, 2023, International journal of molecular sciences.

SARM1 deficiency promotes rod and cone photoreceptor cell survival in a model of retinal degeneration

A. Bowie, P. Humphries, P. Kenna, 2020, Life Science Alliance.

Sensitivity of photoreceptor-derived cell line (661W) to baculoviral p35, Z-VAD.FMK, and Fas-associated death domain.

P. Humphries, G. Farrar, P. Kenna, 2002, Investigative ophthalmology & visual science.

A novel homozygous truncating GNAT1 mutation implicated in retinal degeneration

P. Humphries, M. Carrigan, G. Farrar, 2015, British Journal of Ophthalmology.

Novel 199 base pair NEFH promoter drives expression in retinal ganglion cells

P. Humphries, M. Carrigan, G. Farrar, 2020, Scientific Reports.

Murine model of autosomal dominant retinitis pigmentosa generated by targeted deletion at codon 307 of the rds-peripherin gene.

Alan W. Stitt, W. Colledge, D. Rancourt, 2002, Human molecular genetics.

Autosomal dominant retinitis pigmentosa: a novel mutation at the peripherin/RDS locus in the original 6p-linked pedigree.

P. Humphries, P. Kenna, S. Jordan, 1993, Genomics.

A transgenic mouse model for gene therapy of rhodopsin-linked Retinitis Pigmentosa

M. O'Reilly, P. Humphries, G. Farrar, 2008, Vision Research.

SARM1 de ﬁ ciency promotes rod and cone photoreceptor cell survival in a model of retinal degeneration

A. Bowie, P. Humphries, P. Kenna, 2020 .

Properties and Therapeutic Implications of an Enigmatic D477G RPE65 Variant Associated with Autosomal Dominant Retinitis Pigmentosa

P. Humphries, R. Koenekoop, G. Farrar, 2020, Genes.

Aberrant retinal tight junction and adherens junction protein expression in an animal model of autosomal recessive Retinitis pigmentosa: The Rho(−/−) mouse

A. Kennan, P. Humphries, P. Kenna, 2006 .

Ribozyme-based therapeutic approaches for autosomal dominant retinitis pigmentosa.

M. O'Reilly, P. Humphries, G. Farrar, 2000, Investigative ophthalmology & visual science.

Molecular mechanisms of photoreceptor degeneration in RP caused by IMPDH1 mutations.

A. Kennan, A. Aherne, P. Humphries, 2006, Advances in experimental medicine and biology.

Loss of photoreceptor potential from retinal progenitor cell cultures, despite improvements in survival.

C. Gallagher, F. Mansergh, John H. Wilson, 2010, Experimental eye research.

Usher Syndrome on the Island of Ireland: A Genotype-Phenotype Review

D. Keegan, G. Silvestri, C. Kirk, 2023, Investigative ophthalmology & visual science.

Detailed analysis of an enriched deep intronic ABCA4 variant in Irish Stargardt disease patients

F. Cremers, D. Keegan, S. Roosing, 2023, Scientific reports.

Deletions in exon 5 of the human rhodopsin gene causing a shift in the reading frame and autosomal dominant retinitis pigmentosa

E. Zrenner, P. Humphries, C. Marchese, 1992, Human Genetics.

A dominant mutation in RPE65 identified by whole-exome sequencing causes retinitis pigmentosa with choroidal involvement

R. Fulton, G. Weinstock, L. Ding, 2011, European Journal of Human Genetics.

RNAi‐mediated reversible opening of the blood‐brain barrier

Christoph W. Blau, P. Humphries, A. Tivnan, 2008, The journal of gene medicine.

Reversible and size-selective opening of the inner Blood-Retina barrier: a novel therapeutic strategy.

P. Humphries, G. Farrar, P. Kenna, 2010, Advances in experimental medicine and biology.

Evidence for further genetic heterogeneity in autosomal dominant retinitis pigmentosa.

P. Humphries, P. Kenna, R. Kumar‐Singh, 1993, Genomics.