John R. Heckenlively

University of Michigan–Ann Arbor — United States

Biochemistry, Genetics and Molecular Biology · Life Sciences

82h-index23.8kcitations420works3.02yr avg
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Research Topics

Retinal Development and Disorders(264), Retinal Diseases and Treatments(153), Photoreceptor and optogenetics research(41), Connexins and lens biology(36), Glaucoma and retinal disorders(34)

Publications419 total

Addressing Challenges in Developing Treatments for Inherited Retinal Diseases: Recommendations From the Third Monaciano Symposium
Translational Vision Science & Technology·2025· 3 citedOpen Access
Comprehensive variant spectrum of the <i>CNGA3</i> gene in patients affected by achromatopsia
Human Mutation·2022· 19 citedOpen Access
Association of Smoking, Alcohol Consumption, Blood Pressure, Body Mass Index, and Glycemic Risk Factors With Age-Related Macular Degeneration
JAMA Ophthalmology·2021· 87 citedOpen Access
Deciphering the genetic architecture and ethnographic distribution of IRD in three ethnic populations by whole genome sequence analysis
PLoS Genetics·2021· 30 citedOpen Access
Correlation of Immunological Markers with Disease and Clinical Outcome Measures in Patients with Autoimmune Retinopathy
Translational Vision Science & Technology·2020· 3 citedOpen Access
Advancing Clinical Trials for Inherited Retinal Diseases: Recommendations from the Second Monaciano Symposium
Translational Vision Science & Technology·2020· 88 citedOpen Access
Rapid visual field constriction in a patient with retinitis pigmentosa and pituitary adenoma
American Journal of Ophthalmology Case Reports·2020Open Access
A transcriptome-wide association study based on 27 tissues identifies 106 genes potentially relevant for disease pathology in age-related macular degeneration
Scientific Reports·2020· 62 citedOpen Access
X-Chromosome Inactivation Is a Biomarker of Clinical Severity in Female Carriers of RPGR-Associated X-Linked Retinitis Pigmentosa
Ophthalmology Retina·2019· 53 citedOpen Access
Deep‐intronic variants in <i>CNGB3</i> cause achromatopsia by pseudoexon activation
Human Mutation·2019· 36 citedOpen Access
Correlation of immunohistochemical markers with disease and clinical outcome measures in patients with autoimmune retinopathy
Investigative Ophthalmology & Visual Science·2019Open Access
X-Chromosome Inactivation is a Biomarker of Clinical Severity in Female Carriers of X-linked Retinitis Pigmentosa
Investigative Ophthalmology & Visual Science·2019· 1 citedOpen Access
Detailed clinical characterisation, unique features and natural history of autosomal recessive <i>RDH12</i>-associated retinal degeneration
British Journal of Ophthalmology·2019· 28 citedOpen Access
Immune Cell Infiltration into the Eye Is Controlled by IL-10 in Recoverin-Induced Autoimmune Retinopathy
The Journal of Immunology·2019· 7 citedOpen Access
Prospective Evaluation of Patients With X-Linked Retinoschisis During 18 Months.
PubMed·2018· 63 cited
Accessory heterozygous mutations in cone photoreceptor CNGA3 exacerbate CNG channel–associated retinopathy
Journal of Clinical Investigation·2018· 41 citedOpen Access
T Helper 1 Cellular Immunity Toward Recoverin Is Enhanced in Patients With Active Autoimmune Retinopathy
Frontiers in Medicine·2018· 5 citedOpen Access
Mutations in the gene <i>PDE6C</i> encoding the catalytic subunit of the cone photoreceptor phosphodiesterase in patients with achromatopsia
Human Mutation·2018· 27 citedOpen Access
Deciphering the genetic architecture of IRD by integrated analysis of 425 whole genomes
2018
The journey from clinical to genetic diagnosis in Stargardt disease
Investigative Ophthalmology & Visual Science·2018Open Access
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Frequent Co-authors

Bo Chang(10), Stephen P. Daiger(9), David G. Birch(9), Norman L. Hawes(8), Muriel T. Davisson(8), Kari Branham(7), Steven Nusinowitz(7), Lori S. Sullivan(7), Anand Swaroop(6), Sara J. Bowne(6), Samuel G. Jacobson(5), Gerald A. Fishman(5), Richard G. Weleber(5), Ivana K. Kim(4), Matthew Brooks(4), Mohammad Othman(4), Henry Ferreyra(4), Neal S. Peachey(4), R.E. Hurd(4), Emily Y. Chew(4)