Elise Héon

18PUBLICATIONS
220CO-AUTHORS
Sensory systemsCell and nuclear divisionVision scienceNeurology and neuromuscular diseasesGene mapping
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Publications (18)

|Jan 09, 2026
De novo and inherited dominant variants in U4 and U6 snRNA genes cause retinitis pigmentosa.

Mathieu Quinodoz, Kim Rodenburg, Zuzana Cvackova

|Oct 17, 2025
CEP76 impairment at the centrosome-cilium interface contributes to a spectrum of ciliopathies.

Kamal Khan, Erika Tavares, Katherine Bishara

|Apr 17, 2025
Variants in CFAP410 cause a range of retinal and skeletal phenotypes.

Ryan E Schmidt, Amy E Pohodich, David Birch

|Jan 20, 2025
De novo and inherited dominant variants in U4 and U6 snRNAs cause retinitis pigmentosa.

Mathieu Quinodoz, Kim Rodenburg, Zuzana Cvackova

|Dec 02, 2024
Novel BBS1 deletion and BBS9 nonsense pathogenic variant in Bardet-Biedl syndrome.

Janice Min Li, Erika Tavares, Jacque L Duncan

|Jul 30, 2024
Characterising the refractive error in paediatric patients with congenital stationary night blindness: a multicentre study.

Austin D Igelman, Elizabeth White, Alaa Tayyib

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