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Genetics

D-Index
68
Citations
17048
World Ranking
2429
National Ranking
81

Overview

Elise Héon is affiliated with the University of Toronto in Canada. Their research spans biochemistry, genetics, and molecular biology, with a significant focus on medicine. The main fields of study include molecular biology, ophthalmology, genetics, epidemiology, and radiology, nuclear medicine, and imaging.

Their work covers several key topics within retinal and visual science, including:

  • Retinal Development and Disorders
  • Retinal Diseases and Treatments
  • Genetic and Kidney Cyst Diseases
  • Ophthalmology and Visual Impairment Studies
  • RNA Regulation and Disease
  • Retinal and Optic Conditions
  • Retinopathy of Prematurity Studies

Frequent co-authors in their publications comprise:

  • Ajoy Vincent
  • Michel Michaelides
  • Erika Tavares
  • Jacque L. Duncan
  • Mark E. Pennesi

Their research has been featured extensively in several publication venues, notably:

  • American Journal of Ophthalmology
  • Investigative Ophthalmology & Visual Science
  • Translational Vision Science & Technology
  • Ophthalmic Genetics
  • Eye

Among their recent papers are:

  • Impaired complex I repair causes recessive Leber's hereditary optic neuropathy, 2021, Journal of Clinical Investigation
  • Advancing Clinical Trials for Inherited Retinal Diseases: Recommendations from the Second Monaciano Symposium, 2020, Translational Vision Science & Technology
  • The RUSH2A Study: Best-Corrected Visual Acuity, Full-Field Electroretinography Amplitudes, and Full-Field Stimulus Thresholds at Baseline, 2020, Translational Vision Science & Technology
  • Baseline Visual Field Findings in the RUSH2A Study: Associated Factors and Correlation With Other Measures of Disease Severity, 2020, American Journal of Ophthalmology
  • Shedding light on myopia by studying complete congenital stationary night blindness, 2023, Progress in Retinal and Eye Research

Best Publications

  • Adult-onset primary open-angle glaucoma caused by mutations in optineurin.

    Tayebeh Rezaie;Anne Child;Anne Child;Roger Hitchings;Glen Brice;Glen Brice

  • Human gene therapy for RPE65 isomerase deficiency activates the retinoid cycle of vision but with slow rod kinetics

    Artur V. Cideciyan;Tomas S. Aleman;Sanford L. Boye;Sharon B. Schwartz

  • Gene therapy for leber congenital amaurosis caused by RPE65 mutations: safety and efficacy in 15 children and adults followed up to 3 years

    Samuel G. Jacobson;Artur V. Cideciyan;Ramakrishna Ratnakaram;Elise Heon

  • Analysis of Myocilin Mutations in 1703 Glaucoma Patients From Five Different Populations

    John H. Fingert;Elise Héon;Jeffrey M. Liebmann;Tetsuya Yamamoto

  • Improved diagnostic yield compared with targeted gene sequencing panels suggests a role for whole-genome sequencing as a first-tier genetic test.

    Anath C Lionel;Gregory Costain;Nasim Monfared;Susan Walker

  • Identification of a novel adult-onset primary open-angle glaucoma (POAG) gene on 5q22.1

    Sharareh Monemi;George Spaeth;Alexander DaSilva;Samuel Popinchalk

  • A single EFEMP1 mutation associated with both Malattia Leventinese and Doyne honeycomb retinal dystrophy.

    Edwin M. Stone;Andrew J. Lotery;Francis L. Munier;Elise Héon

  • Improvement and decline in vision with gene therapy in childhood blindness.

    Samuel G. Jacobson;Artur V. Cideciyan;Alejandro J. Roman;Alexander Sumaroka

  • Utility of whole-exome sequencing for those near the end of the diagnostic odyssey: time to address gaps in care.

    S L Sawyer;T Hartley;D A Dyment;C L Beaulieu

  • The γ-Crystallins and Human Cataracts: A Puzzle Made Clearer

    Elise Héon;Megan Priston;Daniel F. Schorderet;Gail D. Billingsley

  • VSX1: A gene for posterior polymorphous dystrophy and keratoconus

    Elise Héon;Alex Greenberg;Kelly K. Kopp;David Rootman

  • Mutations in MKKS cause Bardet-Biedl syndrome.

    Anne M. Slavotinek;Edwin M. Stone;Kirk Mykytyn;John R. Heckenlively

  • Positional cloning of a novel gene on chromosome 16q causing Bardet–Biedl syndrome (BBS2)

    Darryl Y. Nishimura;Charles C. Searby;Rivka Carmi;Khalil Elbedour

  • Domain disruption and mutation of the bZIP transcription factor, MAF, associated with cataract, ocular anterior segment dysgenesis and coloboma

    Robyn V. Jamieson;Rahat Perveen;Bronwyn Kerr;Martin Carette

  • Identifying photoreceptors in blind eyes caused by RPE65 mutations: Prerequisite for human gene therapy success

    Samuel G. Jacobson;Tomas S. Aleman;Artur V. Cideciyan;Alexander Sumaroka

  • Mutations in the CRB1 Gene Cause Leber Congenital Amaurosis

    Andrew J. Lotery;Samuel G. Jacobson;Gerald A. Fishman;Richard G. Weleber

  • New locus for autosomal dominant high myopia maps to the long arm of chromosome 17.

    Prasuna Paluru;Shawn M Ronan;Elise Heon;Marcella Devoto;Marcella Devoto

  • BIGH3 mutation spectrum in corneal dystrophies.

    Francis L. Munier;Beatrice E. Frueh;Philippe Othenin-Girard;Sylvie Uffer

  • Mutations in the unfolded protein response regulator ATF6 cause the cone dysfunction disorder achromatopsia

    Susanne Kohl;Ditta Zobor;Wei-Chieh Chiang;Nicole Weisschuh

  • Mutation Analysis of Patients with Hermansky-Pudlak Syndrome: A Frameshift Hot Spot in the HPS Gene and Apparent Locus Heterogeneity

    Jangsuk Oh;Lingling Ho;Sirpa Ala-Mello;Dominick Amato

Frequent Co-Authors

Brenda L. Gallie
Brenda L. Gallie University of Toronto
Edwin M. Stone
Edwin M. Stone University of Iowa
Samuel G. Jacobson
Samuel G. Jacobson University of Pennsylvania
Artur V. Cideciyan
Artur V. Cideciyan University of Pennsylvania
Daniel F. Schorderet
Daniel F. Schorderet University of Lausanne
Francis L. Munier
Francis L. Munier University of Lausanne
Val C. Sheffield
Val C. Sheffield University of Iowa
Gerald A. Fishman
Gerald A. Fishman University of Illinois at Chicago
Anthony T. Moore
Anthony T. Moore University of California, San Francisco
Tomas S. Aleman
Tomas S. Aleman University of Pennsylvania

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