Elise Heon

19PUBLICATIONS
223CO-AUTHORS
Neurology and neuromuscular diseasesSensory systemsCell and nuclear divisionVision scienceGene mapping
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Publications (19)

|Jul 17, 2026
Missense variants in KATNA1 alter microtubule dynamics and underlie dominant macular dystrophy.

|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

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Frequent Collaborators

5 joint publications

Ajoy Vincent

5 joint publications

Omar Mahroo

4 joint publications

Katarina Stingl

4 joint publications

Susanne Kohl