J. Heckenlively

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Linkage mapping of autosomal dominant retinitis pigmentosa (RP1) to the pericentric region of human chromosome 8.

S. Daiger, S. Blanton, J. Heckenlively, 1991, Genomics.

Seven New Loci Associated with Age-Related Macular Degeneration

Gabriëlle H S Buitendijk, R. T. Smith, Chelsea E. Myers, 2013, Nature Genetics.

A homologous genetic basis of the murine cpfl1 mutant and human achromatopsia linked to mutations in the PDE6C gene

S. Bolz, B. Jurklies, J. Heckenlively, 2009, Proceedings of the National Academy of Sciences.

Genetic heterogeneity among blue-cone monochromats.

J. Nathans, L. Sharpe, E. Zrenner, 1993, American journal of human genetics.

Nature Genetics Advance Online Publication

Yara T. E. Lechanteur, Ivana K. Kim, Gabriëlle H S Buitendijk, 2022 .

Mutations in RDH12 encoding a photoreceptor cell retinol dehydrogenase cause childhood-onset severe retinal dystrophy

J. Heckenlively, F. Rüschendorf, C. Becker, 2004, Nature Genetics.

Screening of a Large Cohort of Leber Congenital Amaurosis and Retinitis Pigmentosa Patients Identifies Novel LCA5 Mutations and New Genotype–Phenotype Correlations

B. J. Klevering, C. Klaver, B. Lorenz, 2013, Human mutation.

Comprehensive molecular diagnosis of 179 Leber congenital amaurosis and juvenile retinitis pigmentosa patients by targeted next generation sequencing

S. Jacobson, G. Fishman, Rui Chen, 2013, Journal of Medical Genetics.

Central serous chorioretinopathy after solid organ transplantation.

A. Fawzi, J. Heckenlively, E. Cunningham, 2006, Ophthalmology.

Essential iris atrophy, pigment dispersion, and glaucoma in DBA/2J mice.

T H Roderick, D. Turnbull, T. Roderick, 1998, Investigative ophthalmology & visual science.

Identification of a Rare Coding Variant in Complement 3 Associated with Age-related Macular Degeneration

Margaret A. Pericak-Vance, David E. Larson, Elaine R. Mardis, 2013, Nature Genetics.

Premature truncation of a novel protein, RD3, exhibiting subnuclear localization is associated with retinal degeneration.

Subhadra Jalali, Anand Swaroop, S. Jacobson, 2006, American journal of human genetics.

Rod multifocal electroretinograms in mice.

W. Ridder, J. Heckenlively, S. Nusinowitz, 1999, Investigative ophthalmology & visual science.

New concept: treating nonproliferative diabetic retinopathy with light adaptation of rods during sleep

J. Heckenlively, 2011, Eye.

Clinical phenotypes and prognostic full-field electroretinographic findings in Stargardt disease.

J. Heckenlively, K. Branham, N. Khan, 2013, American journal of ophthalmology.

Prevalence of disease-causing mutations in families with autosomal dominant retinitis pigmentosa: a screen of known genes in 200 families.

Hatice Duzkale, Hope Northrup, R. Lewis, 2006, Investigative ophthalmology & visual science.

Effect of Oral Valproic Acid vs Placebo for Vision Loss in Patients With Autosomal Dominant Retinitis Pigmentosa: A Randomized Phase 2 Multicenter Placebo-Controlled Clinical Trial

Travis B. Smith, Elvira N. Chegarnov, G. Fish, 2018, JAMA ophthalmology.

Molecular Findings in Families with an Initial Diagnose of Autosomal Dominant Retinitis Pigmentosa (adRP).

S. Daiger, S. Bowne, L. Sullivan, 2018, Advances in experimental medicine and biology.

Clinical features of a previously undescribed codon 216 (proline to serine) mutation in the peripherin/retinal degeneration slow gene in autosomal dominant retinitis pigmentosa.

V. Sheffield, G. Fishman, E. Stone, 1994, Ophthalmology.

Erratum: Mutation analysis of the ROM1 gene in retinitis pigmentosa (Human Molecular Genetics (1995) 4 (1895-1902))

R. Mcinnes, E. Stone, J. Heckenlively, 1995 .

Lop12, a mutation in mouse Crygd causing lens opacity similar to human Coppock cataract.

T. Roderick, J. Heckenlively, M. Davisson, 2000, Genomics.

Consistent Differences of Expression in Heterozygotes

T. Roderick, J. Heckenlively, P. Runge, 1992 .

Erratum: Mutations in RDH12 encoding a photoreceptor cell retinol dehydrogenase cause severe childhood-onset retinal dystrophy (Nature Genetics (2004) 36 (850-854))

Peter Nürnberg, Eduard Schmid, Franz Rüschendorf, 2004 .

Progressive photoreceptor degeneration, outer segment dysplasia, and rhodopsin mislocalization in mice with targeted disruption of the retinitis pigmentosa-1 (Rp1) gene

Jiangang Gao, Jian Zuo, Steven Nusinowitz, 2002, Proceedings of the National Academy of Sciences of the United States of America.

Genetics Pathway Analysis Integrating Genome-Wide and Functional Data Identifies PLCG 2 as a Candidate Gene for Age-Related Macular Degeneration

Caroline, Craig, Ahn, 2019 .

Retinal flavoprotein autofluorescence as a measure of retinal health.

H. Petty, J. Heckenlively, S. Elner, 2008, Transactions of the American Ophthalmological Society.

Clinical findings and common symptoms in retinitis pigmentosa.

J. Heckenlively, L. Friedman, S. Yoser, 1988, American journal of ophthalmology.

Telangiectasia and optic atrophy in cone-rod degenerations.

J. Heckenlively, D. Martin, T. Rosales, 1981, Archives of ophthalmology.

Visual field changes in cone-rod degenerations.

J. Heckenlively, H. Krauss, Howard R. Krauss, 1982, Archives of ophthalmology.

Animal Models of Inherited Retinal Degenerations

J. Stone, J. Heckenlively, 2009 .

Dominant late-onset retinal degeneration with regional variation of sub-retinal pigment epithelium deposits, retinal function, and photoreceptor degeneration.

A. Cideciyan, S. Jacobson, A. Milam, 2000, Ophthalmology.

Retinal degeneration in motor neuron degeneration: a mouse model of ceroid lipofuscinosis.

T. Roderick, R. Bronson, J. Heckenlively, 1994, Investigative ophthalmology & visual science.

Rapid, noninvasive detection of diabetes-induced retinal metabolic stress.

D. Puro, H. Petty, J. Heckenlively, 2008, Archives of ophthalmology.

Advancing therapeutic strategies for inherited retinal degeneration: recommendations from the Monaciano Symposium.

W. Hauswirth, J. Flannery, J. Heckenlively, 2015, Investigative ophthalmology & visual science.

Bietti crystalline corneoretinal dystrophy is caused by mutations in the novel gene CYP4V2.

M. Kaiser-Kupfer, J. Heckenlively, D. Schorderet, 2004, American journal of human genetics.

Chromosomal localization of a new mouse lens opacity gene (lop18)

T. Roderick, J. Heckenlively, M. Davisson, 1996, Genomics.

Rare and common variants in extracellular matrix gene Fibrillin 2 (FBN2) are associated with macular degeneration.

Ivana K. Kim, G. Abecasis, J. Haines, 2014, Human molecular genetics.

XIAP therapy increases survival of transplanted rod precursors in a degenerating host retina.

W. Hauswirth, A. Swaroop, H. Khanna, 2011, Investigative ophthalmology & visual science.

Comprehensive variant spectrum of the CNGA3 gene in patients affected by achromatopsia

P. Sieving, S. Jacobson, R. Salati, 2022, Human mutation.

Diagnostic fundus autofluorescence patterns in achromatopsia.

J. Heckenlively, K. Branham, N. Khan, 2013, American journal of ophthalmology.

Dominant retinitis pigmentosa. A clinicopathologic correlation.

J. Heckenlively, K. Meyer, R. Foos, 1982, Ophthalmology.

Peripheral Pigmented Retinal Lesions in Stargardt Disease.

J. Heckenlively, K. Branham, N. Khan, 2017, American journal of ophthalmology.

Peripheral Visual Fields in ABCA4 Stargardt Disease and Correlation With Disease Extent on Ultra-widefield Fundus Autofluorescence.

J. Heckenlively, K. Branham, Abigail T Fahim, 2017, American journal of ophthalmology.

Double hyperautofluorescent ring on fundus autofluorescence in ABCA4

J. Heckenlively, K. Branham, N. Khan, 2018, Ophthalmic genetics.

Preserved para-arteriole retinal pigment epithelium (PPRPE) in retinitis pigmentosa.

J. Heckenlively, 1982, The British journal of ophthalmology.

Birdshot chorioretinopathy.

F. Yu, J. Heckenlively, L. Gordon, 2005, Survey of ophthalmology.

The Ophthalmic Experience: Unanticipated Primary Findings in the Era of Next Generation Sequencing

J. Heckenlively, K. T. Jayasundera, K. Branham, 2014, Journal of Genetic Counseling.

Prevalence of AIPL1 mutations in inherited retinal degenerative disease.

S. Bhattacharya, S. Daiger, J. Heckenlively, 2000, Molecular genetics and metabolism.

The frequency of posterior subcapsular cataract in the hereditary retinal degenerations.

J. Heckenlively, 1982, American journal of ophthalmology.

The role of perinatal stress in simplex retinitis pigmentosa: evidence from surveys in Australia and the United States.

A. Fawzi, J. Heckenlively, J. Maslim, 2001, Canadian journal of ophthalmology. Journal canadien d'ophtalmologie.

Hydroxychloroquine and Retinal Toxicity

J. Heckenlively, R. Infante, Deidre A. Martin, 1983 .

Mouse model for Usher syndrome: linkage mapping suggests homology to Usher type I reported at human chromosome 11p15.

T. Roderick, J. Heckenlively, G. Hageman, 1995, Proceedings of the National Academy of Sciences of the United States of America.

Retinal dystrophy and macular coloboma

E. Parelhoff, J. Heckenlively, S. Foxman, 1988, Documenta Ophthalmologica.

Mouse Models of RP

J. Heckenlively, M. Davisson, B. Chang, 2007 .

Visual function in patients undergoing long-term total parenteral nutrition.

J. Heckenlively, J. Kopple, M. Ament, 1990, The American journal of clinical nutrition.

De novo intrachromosomal gene conversion from OPN1MW to OPN1LW in the male germline results in Blue Cone Monochromacy

T. Rosenberg, J. Heckenlively, D. Birch, 2016, Scientific Reports.

Map refinement of locus RP13 to human chromosome 17p13.3 in a second family with autosomal dominant retinitis pigmentosa.

M. Spence, J. Bateman, J. Heckenlively, 1996, American journal of human genetics.

Frequency of Anti-Retinal Antibodies in Normal Human Serum

J. Heckenlively, L. Gordon, K. Shimazaki, 2008, Journal of neuro-ophthalmology : the official journal of the North American Neuro-Ophthalmology Society.

exomeSuite: Whole exome sequence variant filtering tool for rapid identification of putative disease causing SNVs/indels.

J. Duncan, J. Heckenlively, S. Riazuddin, 2014, Genomics.

Management of autoimmune retinopathies with immunosuppression.

S. He, J. Heckenlively, N. Khan, 2009, Archives of ophthalmology.

Immune Cell Infiltration into the Eye Is Controlled by IL-10 in Recoverin-Induced Autoimmune Retinopathy

J. Heckenlively, S. Lundy, Cheng-mao Lin, 2019, The Journal of Immunology.

Diurnal variations of foveoschisis by optical coherence tomography in patients with RS1 X-linked juvenile retinoschisis

J. Heckenlively, D. Birch, D. Musch, 2018, Ophthalmic genetics.

Methadone-induced pulmonary edema.

J. Heckenlively, E. Genton, J. Kjeldgaard, 1971, JAMA.

Spatial and temporal expression of MFRP and its interaction with CTRP5.

J. Heckenlively, M. A. Mandal, R. Ayyagari, 2006, Investigative ophthalmology & visual science.

An association between acute retinal necrosis syndrome and HLA-DQw7 and phenotype Bw62, DR4.

W. Culbertson, J. Pepose, H. Kaplan, 1989, American journal of ophthalmology.

C2orf71 Mutations as a Frequent Cause of Autosomal-Recessive Retinitis Pigmentosa: Clinical Analysis and Presentation of 8 Novel Mutations.

James V. M. Hanson, W. Berger, B. Lam, 2017, Investigative ophthalmology & visual science.

Genotype-phenotype correlation in 440 patients with NPHP-related ciliopathies.

J. Heckenlively, F. Hildebrandt, Susan J Allen, 2011, Kidney international.

Autoantibodies to retinal astrocytes associated with age-related macular degeneration

J. Heckenlively, 1991 .

Giant retinal tear and retinal detachment with underlying retinitis pigmentosa and hearing loss

Z. Gregor, J. Heckenlively, S. Schwartz, 1996, Eye.

Autosomal dominant retinal degeneration and bone loss in patients with a 12-bp deletion in the CRX gene.

D. Zack, S. Daiger, J. Heckenlively, 2001, Investigative ophthalmology & visual science.

Spontaneous carotid-cavernous fistula and the Ehlers-Danlos syndromes.

J. Heckenlively, R. Clark, H. Geggel, 1983, Ophthalmology.

T Helper 1 Cellular Immunity Toward Recoverin Is Enhanced in Patients With Active Autoimmune Retinopathy

R. Tagett, M. Othman, J. Heckenlively, 2018, Front. Med..

Anti-retinal pigment epithelium antibodies in acute exudative polymorphous vitelliform maculopathy: a new hypothesis about disease pathogenesis.

S. He, J. Heckenlively, N. Khan, 2009, Archives of ophthalmology.

Autoimmune retinopathy: A review and summary

J. Heckenlively, H. Ferreyra, 2008, Seminars in Immunopathology.

Asteroid hyalosis in an autopsy population: The University of California at Los Angeles (UCLA) experience.

B. Glasgow, A. Fawzi, J. Heckenlively, 2005, Archives of ophthalmology.

HLA typing in retinitis pigmentosa.

J. Heckenlively, J. Pearlman, P. Terasaki, 1981, The British journal of ophthalmology.

Surgical management of retinal detachment associated with the acute retinal necrosis syndrome.

J. Heckenlively, H. Lewis, H. McDonald, 1991, The British journal of ophthalmology.

New mutation, P575L, in the GUCY2D gene in a family with autosomal dominant progressive cone degeneration.

J. Heckenlively, N. Udar, K. Small, 2008, Archives of ophthalmology.

Retinal pigment epithelial detachments and tears, and progressive retinal degeneration in light chain deposition disease

J. Heckenlively, L. Spielberg, A. Leys, 2013, British Journal of Ophthalmology.

Investigations of antiretinal antibodies in pigmentary retinopathy and other retinal degenerations.

J. Heckenlively, P. Hargrave, N. Aptsiauri, 1996, Transactions of the American Ophthalmological Society.

Two mouse models for recoverin-associated autoimmune retinopathy

S. He, J. Heckenlively, N. Khan, 2010, Molecular vision.

The need for standardization of antiretinal antibody detection and measurement.

I. MacDonald, J. Heckenlively, R. Nussenblatt, 2008, American journal of ophthalmology.

Scotopic and Photopic Visual Thresholds and Spatial and Temporal Discrimination Evaluated by Behavior of Mice in a Water Maze†

J. Hurley, J. Heckenlively, Rebecca K. Reh, 2006, Photochemistry and photobiology.

Symposium-in-Print: Photoreceptors Scotopic and Photopic Visual Thresholds and Spatial and Temporal Discrimination Evaluated by Behavior of Mice in a Water Mazet

J. Heckenlively, Rebecca K. Reh, B. Chang, 2006 .

Two mouse retinal degenerations caused by missense mutations in the β-subunit of rod cGMP phosphodiesterase gene

J. Heckenlively, M. Davisson, J. Boatright, 2007, Vision Research.

Clinical diagnoses that overlap with choroideremia.

P. Sieving, I. MacDonald, J. Heckenlively, 2003, Canadian journal of ophthalmology. Journal canadien d'ophtalmologie.

The nob2 mouse, a null mutation in Cacna1f: Anatomical and functional abnormalities in the outer retina and their consequences on ganglion cell visual responses

J. Heckenlively, D. Rice, M. McCall, 2006, Visual Neuroscience.

Retinal degeneration associated with RDH12 mutations results from decreased 11-cis retinal synthesis due to disruption of the visual cycle.

J. Lupski, P. Gouras, P. Sieving, 2005, Human molecular genetics.

Principles and practice of clinical electrophysiology of vision

Michael Bach, Geoffrey B. Arden, John R. Heckenlively, 1991 .

Retinitis pigmentosa. A symposium on terminology and methods of examination.

J. Dowling, P. Gouras, R. Carr, 1983, Ophthalmology.

Computer analysis of Farnsworth-Munsell 100-hue test

J. V. Winston, J. Heckenlively, J. Winston, 1986, Documenta Ophthalmologica.

Genetic variants near TIMP3 and high-density lipoprotein–associated loci influence susceptibility to age-related macular degeneration

Margaret A. Pericak-Vance, Nirubol Tosakulwong, Emily Y. Chew, 2010, Proceedings of the National Academy of Sciences.

Cortical visual function in the rd12 mouse model of Leber Congenital Amarousis (LCA) after gene replacement therapy to restore retinal function

W. Hauswirth, S. Kaushal, W. Ridder, 2006, Vision Research.

Accessory heterozygous mutations in cone photoreceptor CNGA3 exacerbate CNG channel–associated retinopathy

P. Sieving, N. Tanimoto, S. Beck, 2018, The Journal of clinical investigation.

A deletion in a photoreceptor-specific nuclear receptor mRNA causes retinal degeneration in the rd7 mouse.

T. Roderick, J. Heckenlively, C. Kozak, 2000, Proceedings of the National Academy of Sciences of the United States of America.

A range of clinical phenotypes associated with mutations in CRX, a photoreceptor transcription-factor gene.

C. Freund, R. Mcinnes, S. Daiger, 1998, American journal of human genetics.

Causes of cataract development in anesthetized mice.

W. Ridder, J. Heckenlively, S. Nusinowitz, 2002, Experimental eye research.

Cone photoreceptor function loss-3, a novel mouse model of achromatopsia due to a mutation in Gnat2.

A. Milam, J. Heckenlively, B. Chang, 2006, Investigative ophthalmology & visual science.

Morphological characterization of the retinal degeneration in three strains of mice carrying the rd-3 mutation

Steven K Fisher, J. Heckenlively, D. Farber, 2005, Visual Neuroscience.

Scotopic and Photopic Visual Thresholds and Spatial and Temporal Discrimination Evaluated by Behavior of Mice in a Water Maze †

J. Hurley, J. Heckenlively, Rebecca K. Reh, 2006 .

Visual acuity impairment in patients with retinitis pigmentosa at age 45 years or older.

A. Edwards, G. Fishman, J. Heckenlively, 1999, Ophthalmology.

E2-2 Protein and Fuchs's Corneal Dystrophy

Informatics, G. Abecasis, K. Bailey, 2022 .

Retinal Dystrophies and Degenerations

J. Heckenlively, 1988 .

Clinical and electrophysiologic characterization of paraneoplastic and autoimmune retinopathies associated with antienolase antibodies.

W. T. Shults, R. Egan, J. Heckenlively, 2005, American journal of ophthalmology.

Progressive outer retinal necrosis caused by varicella-zoster virus in children with acquired immunodeficiency syndrome.

J. Church, M. Keller, J. Heckenlively, 2003, The Pediatric infectious disease journal.

Interacting loci cause severe iris atrophy and glaucoma in DBA/2J mice

Michael G. Anderson, T. Roderick, J. Heckenlively, 1999, Nature Genetics.

Association of antiretinal antibodies and cystoid macular edema in patients with retinitis pigmentosa.

J. Heckenlively, N. Aptsiauri, B. L. Jordan, 1999, American journal of ophthalmology.

Mouse models of age-related macular degeneration.

Steven Nusinowitz, J. Heckenlively, B. Chang, 2006, Experimental eye research.

Retinal degeneration mutants in the mouse

M. T. Davisson, J. Heckenlively, M. Davisson, 2002, Vision Research.

J. Heckenlively, A. Colman, G. Jeffery, 2013, Neurobiology of Aging.

Effective gene therapy with nonintegrating lentiviral vectors

S. E. Barker, Rafael J. Yáñez-Muñoz, J. Heckenlively, 2006, Nature Medicine.

Retinal degeneration 12 (rd12): a new, spontaneously arising mouse model for human Leber congenital amaurosis (LCA).

W. Hauswirth, S. Kaushal, J. Heckenlively, 2005, Molecular vision.

Autosomal dominant mouse cataract (Lop-10). Consistent differences of expression in heterozygotes.

T. Roderick, J. Heckenlively, N. Hawes, 1992, Investigative ophthalmology & visual science.

Screening for mouse retinal degenerations

T. Roderick, J. Heckenlively, J. Winston, 1989, Documenta Ophthalmologica.

Exon screening of the genes encoding the β- and γ-subunits of cone transducin in patients with inherited retinal disease

S. Jacobson, G. Fishman, J. Heckenlively, 1998 .

CTRP5 is a membrane-associated and secretory protein in the RPE and ciliary body and the S163R mutation of CTRP5 impairs its secretion.

J. Heckenlively, S. Moroi, M. A. Mandal, 2006, Investigative ophthalmology & visual science.

An analysis of allelic variation in the ABCA4 gene.

V. Sheffield, S. Jacobson, T. Casavant, 2001, Investigative ophthalmology & visual science.

Rescue of retinal degeneration by intravitreally injected adult bone marrow-derived lineage-negative hematopoietic stem cells.

J. Heckenlively, A. Otani, Michael I Dorrell, 2004, The Journal of clinical investigation.

Autosomal dominant sectoral retinitis pigmentosa. Two families with transversion mutation in codon 23 of rhodopsin.

S. Daiger, J. Heckenlively, J. A. Rodríguez, 1991, Archives of ophthalmology.

Next generation sequencing-based molecular diagnosis of retinitis pigmentosa: identification of a novel genotype-phenotype correlation and clinical refinements

Jacqueline Pei, Cindy Wen, Kang Zhang, 2014, Human Genetics.

Mutations in the gene PDE6C encoding the catalytic subunit of the cone photoreceptor phosphodiesterase in patients with achromatopsia

A. Green, K. Stingl, J. Heckenlively, 2018, Human mutation.

Ancestry estimation and control of population stratification for sequence-based association studies

Chaolong Wang, Hyun Min Kang, Sebastian Zöllner, 2014, Nature Genetics.

Mutations in the PDE6B gene in autosomal recessive retinitis pigmentosa.

S. Jacobson, J. Heckenlively, D. Farber, 1995, Genomics.

A Novel Dominant Mutation in SAG, the Arrestin-1 Gene, Is a Common Cause of Retinitis Pigmentosa in Hispanic Families in the Southwestern United States

D. Koboldt, S. Daiger, S. Bowne, 2017, Investigative ophthalmology & visual science.

Mutation Detection in Patients with Retinal Dystrophies Using Targeted Next Generation Sequencing

S. Jacobson, T. Strom, T. Rosenberg, 2016, PloS one.

Identification of the gene (BBS1) most commonly involved in Bardet-Biedl syndrome, a complex human obesity syndrome

Val C. Sheffield, Edwin M. Stone, Anne B. Fulton, 2002, Nature Genetics.

Prevalence of mutations causing retinitis pigmentosa and other inherited retinopathies

S. Daiger, S. Bowne, L. Sullivan, 2001, Human mutation.

Large deletions of the KCNV2 gene are common in patients with cone dystrophy with supernormal rod response

R. Salati, B. Lorenz, E. Zrenner, 2011, Human mutation.

Establishing baseline rod electroretinogram values in achromatopsia and cone dystrophy

J. Heckenlively, K. Branham, N. Khan, 2012, Documenta Ophthalmologica.

CRB1 mutation spectrum in inherited retinal dystrophies

Jason J. Davis, A. D. den Hollander, R. Roepman, 2004, Human mutation.

CRB1 is essential for external limiting membrane integrity and photoreceptor morphogenesis in the mammalian retina.

Ulrich Tepass, Shuhei Kameya, Patsy M Nishina, 2003, Human molecular genetics.

CDH23 mutation and phenotype heterogeneity: a profile of 107 diverse families with Usher syndrome and nonsyndromic deafness.

J. W. Askew, W. Reardon, H. Kremer, 2002, American journal of human genetics.

Methods exomeSuite : Whole exome sequence variant fi ltering tool for rapid identi fi cation of putative disease causing SNVs / indels

J. Duncan, J. Heckenlively, S. Riazuddin, 2014 .

Genetic heterogeneity of Usher syndrome: analysis of 151 families with Usher type I.

S. Jacobson, C. Cremers, W. Reardon, 2000, American journal of human genetics.

Mutations in a human homologue of Drosophila crumbs cause retinitis pigmentosa (RP12)

A. Deutman, A. D. den Hollander, H. Brunner, 1999, Nature Genetics.

A transcriptome-wide association study based on 27 tissues identifies 106 genes potentially relevant for disease pathology in age-related macular degeneration

Gabriëlle H S Buitendijk, Alan M. Kwong, R. T. Smith, 2020, Scientific Reports.

Identification of disease-causing mutations in autosomal dominant retinitis pigmentosa (adRP) using next-generation DNA sequencing.

R. Fulton, G. Weinstock, L. Ding, 2011, Investigative ophthalmology & visual science.

Targeted high-throughput DNA sequencing for gene discovery in retinitis pigmentosa.

G. Weinstock, S. Daiger, S. Bowne, 2009, Advances in experimental medicine and biology.

Mutations in a BTB-Kelch protein, KLHL7, cause autosomal-dominant retinitis pigmentosa.

G. Abecasis, A. Swaroop, D. Breuer, 2009, American Journal of Human Genetics.

Genomic rearrangements of the PRPF31 gene account for 2.5% of autosomal dominant retinitis pigmentosa.

R. Lewis, S. Daiger, S. Bowne, 2006, Investigative ophthalmology & visual science.

Genetic factors modifying clinical expression of autosomal dominant RP.

E. Stone, S. Daiger, S. Bowne, 2006, Advances in experimental medicine and biology.

Novel types of mutation in the choroideremia (CHM) gene: a full-length L1 insertion and an intronic mutation activating a cryptic exon

H. Brunner, E. Zrenner, F. Cremers, 2003, Human Genetics.

Hypomethylation of the IL 17 RC Promoter in Peripheral Blood Leukocytes Is Not A Hallmark of Age-Related Macular Degeneration

D. Zack, A. Swaroop, D. Mackey, 2014 .

Hypomethylation of the IL17RC promoter in peripheral blood leukocytes is not a hallmark of age-related macular degeneration.

D. Zack, A. Swaroop, D. Mackey, 2013, Cell reports.

Genetic pleiotropy between age-related macular degeneration and 16 complex diseases and traits

Gabriëlle H S Buitendijk, Alan M. Kwong, R. T. Smith, 2017, Genome Medicine.

Characterization of the Crumbs homolog 2 (CRB2) gene and analysis of its role in retinitis pigmentosa and Leber congenital amaurosis.

A. D. den Hollander, R. Roepman, P. Rashbass, 2005, Molecular vision.

In-frame deletion in a novel centrosomal/ciliary protein CEP290/NPHP6 perturbs its interaction with RPGR and results in early-onset retinal degeneration in the rd16 mouse.

A. Swaroop, H. Khanna, C. Lillo, 2006, Human molecular genetics.

Leber congenital amaurosis and retinitis pigmentosa with Coats-like exudative vasculopathy are associated with mutations in the crumbs homologue 1 (CRB1) gene.

K Rohrschneider, L I van den Born, M J van Schooneveld, 2001, American journal of human genetics.

Mutations in a new photoreceptor-pineal gene on 17p cause Leber congenital amaurosis

C. Cepko, S. Bhattacharya, S. Daiger, 2000, Nature Genetics.

Genetic modification of glaucoma associated phenotypes between AKXD-28/Ty and DBA/2J mice

Michael G. Anderson, J. Heckenlively, Richard S. Smith, 2001, BMC Genetics.

Corn1: a mouse model for corneal surface disease and neovascularization.

J. Sundberg, T. Roderick, J. Heckenlively, 1996, Investigative ophthalmology & visual science.

Retinal degeneration but not obesity is observed in null mutants of the tubby-like protein 1 gene.

J. Naggert, J. Heckenlively, M. Duyao, 2000, Human molecular genetics.

Detailed clinical characterisation, unique features and natural history of autosomal recessive RDH12-associated retinal degeneration

J. Heckenlively, K. Branham, N. Khan, 2019, British Journal of Ophthalmology.

Deciphering the genetic architecture and ethnographic distribution of IRD in three ethnic populations by whole genome sequence analysis

K. Frazer, P. Sieving, Andrew Huynh, 2021, PLoS genetics.

Nutritional requirement for taurine in patients receiving long-term parenteral nutrition.

J. Heckenlively, J. Kopple, M. Ament, 1985, The New England journal of medicine.

Rapid visual field constriction in a patient with retinitis pigmentosa and pituitary adenoma

S. Sullivan, J. Heckenlively, K. Branham, 2020, American journal of ophthalmology case reports.

Retrospective, longitudinal, and cross sectional study of visual acuity impairment in choroideraemia

D. K. Roberts, G. Fishman, J. Heckenlively, 2002, The British journal of ophthalmology.

Antioxidant or neurotrophic factor treatment preserves function in a mouse model of neovascularization-associated oxidative stress.

Oscar Yanes, Gary Siuzdak, Martin Friedlander, 2009, The Journal of clinical investigation.

MOUSE MODEL OF SUBRETINAL NEOVASCULARIZATION WITH CHOROIDAL ANASTOMOSIS

Martin Friedlander, Steven Nusinowitz, J. Heckenlively, 2003, Retina.

Advancing Clinical Trials for Inherited Retinal Diseases: Recommendations from the Second Monaciano Symposium

P. Sieving, J. Sahel, A. Cideciyan, 2020, Translational vision science & technology.

Mutations in the X-linked retinitis pigmentosa genes RPGR and RP2 found in 8.5% of families with a provisional diagnosis of autosomal dominant retinitis pigmentosa.

Jennifer D. Churchill, R. Lewis, S. Daiger, 2013, Investigative Ophthalmology and Visual Science.

Mutations in the TOPORS gene cause 1% of autosomal dominant retinitis pigmentosa

S. Daiger, S. Bowne, L. Sullivan, 2008, Molecular vision.

The Gly56Arg mutation in NR2E3 accounts for 1-2% of autosomal dominant retinitis pigmentosa.

S. Daiger, S. Bowne, L. Sullivan, 2007, Molecular vision.

Linkage Mapping in Families With Autosomal Dominant Retinitis Pigmentosa (adRP)

S. Daiger, S. Bowne, L. Sullivan, 2005 .

High-resolution homozygosity mapping is a powerful tool to detect novel mutations causative of autosomal recessive RP in the Dutch population.

B. J. Klevering, J. Hehir-Kwa, T. Strom, 2011, Investigative ophthalmology & visual science.

Long-term follow-up of a family with dominant X-linked retinitis pigmentosa

P. Sieving, A. Swaroop, H. Khanna, 2010, Eye.

Rd9 Is a Naturally Occurring Mouse Model of a Common Form of Retinitis Pigmentosa Caused by Mutations in RPGR-ORF15

A. Swaroop, Tiansen Li, H. Khanna, 2012, PloS one.

A comprehensive mutation analysis of RP2 and RPGR in a North American cohort of families with X-linked retinitis pigmentosa.

P. Sieving, S. Jacobson, A. Swaroop, 2002, American journal of human genetics.

Retinal degeneration 6 (rd6): a new mouse model for human retinitis punctata albescens.

T. Roderick, J. Heckenlively, G. Hageman, 2000, Investigative ophthalmology & visual science.

Loss of lysophosphatidylcholine acyltransferase 1 leads to photoreceptor degeneration in rd11 mice

A. Swaroop, S. Bhattacharya, J. Heckenlively, 2010, Proceedings of the National Academy of Sciences.

Peripapillary dark choroid ring as a helpful diagnostic sign in advanced stargardt disease.

J. Heckenlively, K. Branham, D. Musch, 2010, American journal of ophthalmology.

Screening of the gene encoding the alpha'-subunit of cone cGMP-PDE in patients with retinal degenerations.

S. Jacobson, G. Fishman, E. Stone, 1999, Investigative ophthalmology & visual science.

Mutations in MKKS cause Bardet-Biedl syndrome

V. Sheffield, L. Biesecker, E. Stone, 2001, Nature Genetics.

RP2 phenotype and pathogenetic correlations in X-linked retinitis pigmentosa.

A. Swaroop, H. Khanna, M. Othman, 2010, Archives of ophthalmology.

Sequencing arrays for screening multiple genes associated with early-onset human retinal degenerations on a high-throughput platform.

P. Sieving, J. Heckenlively, M. A. Mandal, 2005, Investigative ophthalmology & visual science.

Deep‐intronic variants in CNGB3 cause achromatopsia by pseudoexon activation

S. Jacobson, D. Sharon, K. Stingl, 2019, Human mutation.

Mutations in MKKS cause Bardet-Biedl syndrome

V. Sheffield, L. Biesecker, E. Stone, 2000, Nature Genetics.

Identification of novel rhodopsin mutations responsible for retinitis pigmentosa: implications for the structure and function of rhodopsin.

C. M. Davenport, P. Gouras, P. Sieving, 1993, American journal of human genetics.

Maternal germ-line transmission of mutant mtDNAs from embryonic stem cell-derived chimeric mice.

D. Wallace, J. Heckenlively, K. Waymire, 2000, Proceedings of the National Academy of Sciences of the United States of America.

X-linked recessive cone dystrophy with tapetal-like sheen. A newly recognized entity with Mizuo-Nakamura phenomenon.

J. Heckenlively, R. Weleber, 1986, Archives of ophthalmology.

Characterization of RP1L1, a highly polymorphic paralog of the retinitis pigmentosa 1 (RP1) gene.

Jian Zuo, A. Kennan, S. Daiger, 2003, Molecular vision.

Mutations in a novel retina-specific gene cause autosomal dominant retinitis pigmentosa

Winston A Hide, S. Daiger, S. Bowne, 1999, Nature Genetics.

Spectrum and frequency of mutations in IMPDH1 associated with autosomal dominant retinitis pigmentosa and leber congenital amaurosis.

R. Lewis, S. Daiger, S. Bowne, 2006, Investigative ophthalmology & visual science.

Mutations in the inosine monophosphate dehydrogenase 1 gene (IMPDH1) cause the RP10 form of autosomal dominant retinitis pigmentosa.

Seth Blackshaw, C. Cepko, S. Daiger, 2002, Human molecular genetics.

QRX, a novel homeobox gene, modulates photoreceptor gene expression.

D. Zack, S. Jacobson, A. Swaroop, 2004, Human molecular genetics.

Mutation analysis of the ROM1 gene in retinitis pigmentosa.

R. Mcinnes, E. Stone, J. Heckenlively, 1995, Human molecular genetics.

Genetic Basis of Age-related Macular Degeneration

M. Othman, J. Heckenlively, K. Branham, 2011 .

Autoimmune retinopathy: patients with antirecoverin immunoreactivity and panretinal degeneration.

A. Fawzi, J. Heckenlively, J. Oversier, 2000, Archives of ophthalmology.

Probable genetic linkage between autosomal dominant retinitis pigmentosa (RP) and amylase (AMY2): evidence of an RP locus on chromosome 1.

M. Spence, J. Heckenlively, R. Sparkes, 1977, American journal of human genetics.

Nerve fibre layer loss in diseases of the outer retinal layer.

J. Heckenlively, N. Newman, R. Stevens, 1987, The British journal of ophthalmology.

Molecular testing for hereditary retinal disease as part of clinical care.

P. Sieving, J. Heckenlively, K. Branham, 2007, Archives of ophthalmology.

Mouse models of ocular diseases

T. Roderick, J. Heckenlively, M. Davisson, 2005, Visual Neuroscience.

Ophthalmologic and systemic manifestations of Alström's disease.

J. Heckenlively, R. Weleber, R. Millay, 1986, American journal of ophthalmology.

Prospective Evaluation of Patients With X-Linked Retinoschisis During 18 Months

J. Heckenlively, O. Tan, D. Birch, 2018, Investigative ophthalmology & visual science.

Classification of congenital and early onset retinitis pigmentosa.

J. Bateman, J. Heckenlively, J. Wirtschafter, 1985, Archives of ophthalmology.

Reliability of kinetic visual field testing in children with mutation-proven retinal dystrophies: Implications for therapeutic clinical trials

J. Heckenlively, K. Branham, N. Khan, 2016, Ophthalmic genetics.

Melanoma-associated retinopathy: a paraneoplastic autoimmune complication.

S. He, J. Heckenlively, T. Jayasundera, 2009, Archives of ophthalmology.

Correlation of Immunological Markers with Disease and Clinical Outcome Measures in Patients with Autoimmune Retinopathy

L. Sobrin, Arjun B. Sood, J. Heckenlively, 2020, Translational vision science & technology.

Cataract surgery in retinitis pigmentosa patients.

J. Heckenlively, B. Straatsma, J. Bastek, 1982, Ophthalmology.

Rhodopsin mutations in autosomal dominant retinitis pigmentosa.

C. M. Davenport, P. Gouras, J. Nathans, 1991, Proceedings of the National Academy of Sciences of the United States of America.

Optical Coherence Tomography Examination of the Retinal Pigment Epithelium in Best Vitelliform Macular Dystrophy.

J. Heckenlively, T. Jayasundera, C. Qian, 2017, Ophthalmology.

Mfrp, a gene encoding a frizzled related protein, is mutated in the mouse retinal degeneration 6.

J. Naggert, J. Heckenlively, S. Kameya, 2002, Human molecular genetics.

Integrated genetic and physical map of the 1q31→q32.1 region, encompassing the RP12 locus, the F13B and HF1 genes, and the EEF1AL11 and RPL30 pseudogenes

P. D. de Jong, J. Heckenlively, A. Bergen, 1999, Cytogenetic and Genome Research.

X-Chromosome Inactivation Is a Biomarker of Clinical Severity in Female Carriers of RPGR-Associated X-Linked Retinitis Pigmentosa.

S. Daiger, S. Bowne, L. Sullivan, 2019, Ophthalmology. Retina.

Phenotypic conservation in patients with X-linked retinitis pigmentosa caused by RPGR mutations.

Anand Swaroop, Paul A Sieving, P. Sieving, 2013, JAMA ophthalmology.

Mutations in RPGR and RP2 account for 15% of males with simplex retinal degenerative disease.

P. Sieving, S. Schwartz, S. Jacobson, 2012, Investigative ophthalmology & visual science.

RP 2 Phenotype and Pathogenetic Correlations in X-Linked Retinitis Pigmentosa

A. Swaroop, H. Khanna, M. Othman, 2010 .

X-Linked Retinitis Pigmentosa: Current Status

P. Sieving, S. Jacobson, A. Swaroop, 2001 .

Further evidence of exclusion of linkage between type II autosomal dominant retinitis pigmentosa (ADRP) and D3S47 on 3q.

S. Daiger, S. Blanton, J. Heckenlively, 1990, Genomics.

Reviews Molecular Genetics of Retinitis Pigmentosa

A. Campagnoni, J. Heckenlively, R. Sparkes, 2022 .

OPN1LW and OPN1MW

J. Heckenlively, K. Branham, M. Michaelides, 2018 .

Hereditary Cone Dystrophies

J. Heckenlively, N. Khan, P. Atmaca-Sonmez, 2008 .

DNA linkage studies of degenerative retinal diseases.

S. Daiger, J. Heckenlively, R. Lewis, 1987, Progress in clinical and biological research.

Linkage analysis of five pedigrees affected with typical autosomal dominant retinitis pigmentosa.

M. Spence, J. Heckenlively, L. Field, 1982, Journal of medical genetics.

Possible assignment of a dominant retinitis pigmentosa gene to chromosome 1.

M. Spence, J. Heckenlively, L. Field, 1982, Ophthalmic research.

Progress in Positional Cloning of RP10 (7q31.3), RP1 (8q11–q21), and VMD1 (8q24)

E. Green, S. Daiger, L. Sullivan, 1997 .

Identification and subcellular localization of the RP1 protein in human and mouse photoreceptors.

A. Milam, S. Daiger, L. Sullivan, 2002, Investigative ophthalmology & visual science.

Genome-wide association study and meta-analysis of intraocular pressure

G. Abecasis, B. Yaspan, J. Haines, 2013, Human Genetics.

RETINITIS PUNCTATA ALBESCENS: Fundus Appearance and Functional Abnormalities

D. S. Ellis, J. Heckenlively, 1983 .

Assessing the risk of retinitis pigmentosa with age-of-onset data.

J. Heckenlively, S. Seiff, J. Pearlman, 1982, American journal of ophthalmology.

Ablation of the X-linked retinitis pigmentosa 2 (Rp2) gene in mice results in opsin mislocalization and photoreceptor degeneration.

A. Swaroop, H. Khanna, T. Hurd, 2013, Investigative ophthalmology & visual science.

Mutations in the small nuclear riboprotein 200 kDa gene (SNRNP200) cause 1.6% of autosomal dominant retinitis pigmentosa

P. Sieving, A. Roorda, J. Duncan, 2013, Molecular vision.

Progress toward personalized medicine for age-related macular degeneration.

J. Heckenlively, S. Moroi, 2008, Ophthalmology.

Exon screening of the genes encoding the beta- and gamma-subunits of cone transducin in patients with inherited retinal disease.

S. Jacobson, G. Fishman, J. Heckenlively, 1998, Molecular vision.

Sudden acquired retinal degeneration syndrome (SARDS) - a review and proposed strategies toward a better understanding of pathogenesis, early diagnosis, and therapy.

J. Heckenlively, P. MohanKumar, S. Petersen-Jones, 2016, Veterinary ophthalmology.

Title Sudden acquired retinal degeneration syndrome ( SARDS )-a review and proposed strategies toward a better understanding of pathogenesis , early diagnosis , and therapy

J. Heckenlively, P. MohanKumar, S. Petersen-Jones, 2015 .

Consensus on the Diagnosis and Management of Nonparaneoplastic Autoimmune Retinopathy Using a Modified Delphi Approach.

J. Heckenlively, R. Nussenblatt, L. Gordon, 2016, American journal of ophthalmology.

The evolving role of visual electrodiagnostics.

J. Heckenlively, John R. Heckenlively, 1993, The British journal of ophthalmology.

Digital quantification of Goldmann visual fields (GVFs) as a means for genotype-phenotype comparisons and detection of progression in retinal degenerations.

J. Heckenlively, N. Khan, Sarwar Zahid, 2014, Advances in experimental medicine and biology.

Retrospective study of hyperabnormal (supranormal) electroretinographic responses in 104 patients.

J. Heckenlively, S. Logani, T. Tanji, 1994, Transactions of the American Ophthalmological Society.

Works Title Consensus on the Diagnosis and Management of Nonparaneoplastic Autoimmune Retinopathy Using a Modified Delphi Approach Permalink

J. Heckenlively, R. Nussenblatt, L. Gordon, 2016 .

The occurrence of serum autoantibodies against enolase in cancer-associated retinopathy.

J. Flannery, J. Heckenlively, P. Hargrave, 1996, Clinical immunology and immunopathology.

Autoimmunity in hereditary retinal degenerations. II. Clinical studies: antiretinal antibodies and fluorescein angiogram findings.

J. Heckenlively, R. Meyers-Elliott, A. Solish, 1985, The British journal of ophthalmology.

Autoimmunity in hereditary retinal degeneration. I. Basic studies.

J. Heckenlively, R. Meyers-Elliott, S. Chant, 1985, The British journal of ophthalmology.

The electroretinogram in advanced open-angle glaucoma

R. E. Christensen, J. Heckenlively, D. T. Fazio, 1986, Documenta Ophthalmologica.

Asteroid Hyalosis in an Autopsy Population

B. Glasgow, A. Fawzi, J. Heckenlively, 2017 .

R. Klein, B. Klein, J. Heckenlively, 2008, Human molecular genetics.

Rearrangement of chromosome 15 in the region q11.2----q12 in an individual with obesity syndrome and her normal mother.

T. Mohandas, J. Korenberg, D. Rimoin, 1990, American journal of medical genetics.

Mutations in the GUCA1A gene involved in hereditary cone dystrophies impair calcium‐mediated regulation of guanylate cyclase

E. Zrenner, V. Kitiratschky, J. Heckenlively, 2009, Human mutation.

Identification of a missense mutation in the alphaA-crystallin gene of the lop18 mouse.

T. Roderick, J. Heckenlively, M. Davisson, 1999, Molecular vision.

Identification of a missense mutation in the α A-crystallin gene of the lop 18 mouse

T. Roderick, J. Heckenlively, M. Davisson, 2022 .

Mouse cataract models; Characterization and linkage data

T. Roderick, J. Heckenlively, B. Chang, 1996 .

Genetic pleiotropy between age-related macular degeneration and 16 complex diseases and traits

Gabriëlle H S Buitendijk, Alan M. Kwong, R. T. Smith, 2017, Genome Medicine.

Establishing the involvement of the novel gene AGBL5 in retinitis pigmentosa by whole genome sequencing.

K. Frazer, P. Sieving, A. Telenti, 2016, Physiological genomics.

Controversies of diagnosing autoimmune retinopathy.

J. Heckenlively, H. Ferreyra, T. Jayasundera, 2010, Archives of ophthalmology.

Genetic analysis of 10 pedigrees with inherited retinal degeneration by exome sequencing and phenotype-genotype association.

G. Dagnelie, J. Duncan, J. Heckenlively, 2017, Physiological genomics.

Retinitis pigmentosa, unilateral Coats's disease, and thalassemia minor--a case report.

J. Heckenlively, 1981, Metabolic and pediatric ophthalmology.

A mouse model for retinitis punctata albescens; a new pathologic finding for retinal white dots

T. Roderick, J. Heckenlively, G. Hageman, 1996 .

A new dominant retinal degeneration (Rd4) associated with a chromosomal inversion in the mouse.

T H Roderick, T. Roderick, J. Heckenlively, 1997, Genomics.

New mouse primary retinal degeneration (rd-3).

T. Roderick, J. Heckenlively, B. Chang, 1993, Genomics.

Mutations in the RP1 gene causing autosomal dominant retinitis pigmentosa.

M. Hims, A. Bird, S. Daiger, 1999, Human molecular genetics.

Mouse fundus photography and angiography: a catalogue of normal and mutant phenotypes.

J. Heckenlively, M. Davisson, S. John, 1999, Molecular vision.

RP cone-rod degeneration.

J. Heckenlively, 1987, Transactions of the American Ophthalmological Society.

Abnormal axonemes in X-linked retinitis pigmentosa.

J. Heckenlively, 1988, Archives of ophthalmology.

Remapping of the RP15 locus for X-linked cone-rod degeneration to Xp11.4-p21.1, and identification of a de novo insertion in the RPGR exon ORF15.

P. Sieving, A. Swaroop, A. Wright, 2000, American journal of human genetics.

DETECTION OF RETINAL METABOLIC STRESS RESULTING FROM CENTRAL SEROUS RETINOPATHY

Richard Hackel, H. Petty, J. Heckenlively, 2009, Retina.

Cystoid macular changes on optical coherence tomography in a patient with maternally inherited diabetes and deafness (MIDD)-associated macular dystrophy

J. Heckenlively, K. Branham, N. Khan, 2017, Ophthalmic genetics.

Identification of the RP1 and RP10 (IMPDH1) genes causing autosomal dominant RP.

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

Frequency and Spectrum of IMPDH1 Mutations Associated with Autosomal Dominant Retinitis Pigmentosa

S. Daiger, S. Bowne, L. Sullivan, 2003 .

The Gly 56 Arg mutation in NR 2 E 3 accounts for 1-2 % of autosomal dominant retinitis pigmentosa

S. Daiger, S. Bowne, L. Sullivan, 2007 .

Screening for mouse retinal degenerations. I. Correlation of indirect ophthalmoscopy, electroretinograms, and histology.

T. Roderick, J. Heckenlively, J. Winston, 1989, Documenta ophthalmologica. Advances in ophthalmology.

Prevalence of Antiretinal Antibodies in Acute Zonal Occult Outer Retinopathy: A Comprehensive Review of 25 Cases.

D. DeMill, J. Heckenlively, K. Branham, 2017, American journal of ophthalmology.

Menkes disease. New ocular and electroretinographic findings.

J. Bateman, J. Heckenlively, J. Menkes, 1998, Ophthalmology.

New Retinal Degenerations in the Mouse

T. Roderick, J. Heckenlively, B. Chang, 1995 .

IFT88 mutations identified in individuals with non-syndromic recessive retinal degeneration result in abnormal ciliogenesis

K. Frazer, P. Sieving, A. Telenti, 2018, Human Genetics.

A large genome-wide association study of age-related macular degeneration highlights contributions of rare and common variants

Ivana K. Kim, Gabriëlle H S Buitendijk, Alan M. Kwong, 2015, Nature Genetics.

Autoimmunity in Hereditary Retinal Degenerations. II. Clinical Studies: Antiretinal Antibodies and Fluorescein Angiogram Findings

J. Heckenlively, R. Meyers-Elliott, A. Solish, 1985 .

Menkes disease.

M. Kaiser-Kupfer, J. Heckenlively, S. Kaler, 1994, Advances in pediatrics.

A large genome-wide association study of age-related macular degeneration highlights contributions of rare and common variants

Ivana K. Kim, Gabriëlle H S Buitendijk, Alan M. Kwong, 2015, Nature Genetics.

Nature Genetics Advance Online Publication

Gabriëlle H S Buitendijk, Alan M. Kwong, R. T. Smith, 2022 .

A large genome-wide association study of age-related macular degeneration highlights contributions of rare and common variants

Gabriëlle H S Buitendijk, Doheny, R. T. Smith, 2015 .

Next generation sequencing-based molecular diagnosis of retinitis pigmentosa: identification of a novel genotype-phenotype correlation and clinical refinements

Jacqueline Pei, Cindy Wen, Kang Zhang, 2013, Human Genetics.

Identification of Novel Deletions as the Underlying Cause of Retinal Degeneration in Two Pedigrees.

P. Sieving, M. Othman, J. Heckenlively, 2018, Advances in experimental medicine and biology.

Genome-wide association study and meta-analysis of intraocular pressure

G. Abecasis, B. Yaspan, J. Haines, 2013, Human Genetics.

Taurine supplementation in infants receiving long-term total parenteral nutrition.

J. Heckenlively, J. Kopple, M. Ament, 1986, Journal of the American College of Nutrition.

Multimodal Imaging in Wagner Syndrome.

R. V. Van Gelder, S. Daiger, S. Bowne, 2016, Ophthalmic surgery, lasers & imaging retina.

Prevalence of anti-retinal antibodies in Acute Zonal Occult Outer Retinopathy (AZOOR): a comprehensive review of 25cases

D. DeMill, J. Heckenlively, N. Khan, 2019 .

X-linked dominant cone-rod degeneration: linkage mapping of a new locus for retinitis pigmentosa (RP 15) to Xp22.13-p22.11.

S. Daiger, L. Sullivan, S. Blanton, 1995, American journal of human genetics.

Remapping of the RP 15 Locus for X-Linked Cone-Rod Degeneration to Xp 11 . 4p 21 . 1 , and Identification of a De Novo Insertion in the RPGR Exon ORF 15

P. Sieving, A. Swaroop, R. Vervoort, 2022 .

Ocular Phenotype of a Family with FAM161A-associated Retinal Degeneration

A. Roorda, J. Duncan, J. Heckenlively, 2014, Ophthalmic genetics.

Molecular genetics of retinitis pigmentosa.

J. Bateman, J. Heckenlively, D. Farber, 1991, The Western journal of medicine.

Mutations in known genes account for 58% of autosomal dominant retinitis pigmentosa (adRP).

S. Daiger, S. Bowne, L. Sullivan, 2008, Advances in experimental medicine and biology.

Senile panretinal cone dysfunction in age-related macular degeneration (AMD): a report of 52 amd patients compared to age-matched controls.

A. Swaroop, J. Heckenlively, S. Nusinowitz, 2006, Transactions of the American Ophthalmological Society.

E2-2 protein and Fuchs's corneal dystrophy.

Wei Chen, J. Heckenlively, K. Baratz, 2010, The New England journal of medicine.

Large deletions of the KCNV2 gene are common in patients with cone dystrophy with supernormal rod response

R. Salati, B. Lorenz, E. Zrenner, 2011, Human mutation.

Nerve fibre layer loss in diseases of the outer retinal layer.

J. Heckenlively, N. Newman, R. Stevens, 1987, The British journal of ophthalmology.

Genetic heterogeneity of Usher syndrome: analysis of 151 families with Usher type I.

J. Heckenlively, W. Kimberling, M. D. Weston, 2000, American journal of human genetics.

Hypomethylation of the IL17RC promoter in peripheral blood leukocytes is not a hallmark of age-related macular degeneration.

D. Zack, A. Swaroop, D. Mackey, 2013, Cell reports.

Mutations in the X-linked retinitis pigmentosa genes RPGR and RP2 found in 8.5% of families with a provisional diagnosis of autosomal dominant retinitis pigmentosa.

Jennifer D. Churchill, R. Lewis, S. Daiger, 2013, Investigative ophthalmology & visual science.

Variable Expressivity of rd-3 Retinal Degeneration Dependent on Background Strain

T. Roderick, J. Heckenlively, B. Chang, 1993 .

A New Mouse Model of a Retinal Detachment With Secondary Angle Closure Glaucoma

J. Heckenlively, M. Davisson, B. Chang, 2008 .