Elise Héon - Genetic Mutations

Author Information

Elise Héon is a prominent researcher affiliated with the Department of Ophthalmology and Vision Sciences at The Hospital for Sick Children and the University of Toronto in Toronto, Canada. She is also associated with the Genetics and Genome Biology division at The Hospital for Sick Children. Her work primarily revolves around ophthalmology and genetic disorders affecting vision.

Research Contributions

Elise Héon has made significant contributions to the field of genetics and ophthalmology through her extensive research on various eye diseases. Her recent work includes studies on gene therapy for Leber's congenital amaurosis, the prevalence of choroidal abnormalities and Lisch nodules in children with Neurofibromatosis Type 1, and the identification of frequent founder mutations associated with early-onset Stargardt disease. She has also investigated genotype-phenotype correlations in USH2A-related disorders, the need for genomic testing in rare eye diseases, and the development of animal models that recapitulate human phenotypes of retinal diseases. Her research has profound implications for understanding and treating genetic eye disorders.

Aliases

Elise Héon is known by several aliases, including E. Heon, E. Héon, Elise Hèon, E Héon, Elise Héon, E Heon, and Elise Heón.

Publication and Citation Metrics

Metric	Value
Citation Count	14,729
H-Index	61
Paper Count	324

Publications:

Correction: Gene therapy: perspectives from young adults with Leber’s congenital amaurosis

DOI: 10.1038/s41433-022-01994-8

Year: 2022

Prevalence of Choroidal Abnormalities and Lisch Nodules in Children Meeting Clinical and Molecular Diagnosis of Neurofibromatosis Type 1

DOI: 10.1167/tvst.11.2.10

Year: 2022

ABCA4 c.859-25A>G, a Frequent Palestinian Founder Mutation Affecting the Intron 7 Branchpoint, Is Associated With Early-Onset Stargardt Disease.

DOI: 10.1167/iovs.63.4.20

Year: 2022

Tissue‐specific genotype–phenotype correlations among USH2A‐related disorders in the RUSH2A study

DOI: 10.1002/humu.24365

Year: 2022

Gene therapy: perspectives from young adults with Leber’s congenital amaurosis

DOI: 10.1038/s41433-021-01763-z

Year: 2021

The need for widely available genomic testing in rare eye diseases: an ERN-EYE position statement

DOI: 10.1186/s13023-021-01756-x

Year: 2021

A large animal model of RDH5-associated retinopathy recapitulates important features of the human phenotype.

DOI: 10.1093/hmg/ddab316

Year: 2021

Optic Atrophy and Inner Retinal Thinning in CACNA1F-Related Congenital Stationary Night Blindness

DOI: 10.3390/genes12030330

Year: 2021

Impaired complex I repair causes recessive Leber’s hereditary optic neuropathy

DOI: 10.1172/JCI138267

Year: 2021

Comparative Natural History of Visual Function From Patients With Biallelic Variants in BBS1 and BBS10.

DOI: 10.1167/iovs.62.15.26

Year: 2021

What Are the Consequences of Genetic Mutations?

Should Genetic Mutations Be Patented?

How do Duplications Occur?

What is the Future of Hemoglobin Electrophoresis?

Can Genetic Mutations be Treated or Cured?

What is Mutation?

How is Cellular Heterogeneity Studied?

How Do Translocations Occur?

What Are the Limitations of CGH?

What Role Do Genetic Mutations Play in Prenatal Screening?

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