Tina M Lamey

8PUBLICATIONS
202CO-AUTHORS
Sensory systemsGene expression (incl. microarray and other genome-wide approaches)Neurology and neuromuscular diseasesInfant and child healthGene mapping
Featured researcher

Get your video featured.

JoVEPublish with JoVE
Journal

Publications (8)

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

Mathieu Quinodoz, Kim Rodenburg, Zuzana Cvackova

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

Mathieu Quinodoz, Kim Rodenburg, Zuzana Cvackova

|Jan 07, 2025
Phosphoribosyl pyrophosphate synthetase 1 (PRPS1) associated retinal degeneration: an international study.

Ogul E Uner, Radwa Elsharawi, Margaret Reynolds

|Mar 28, 2024
Towards Uncovering the Role of Incomplete Penetrance in Maculopathies through Sequencing of 105 Disease-Associated Genes.

Rebekkah J Hitti-Malin, Daan M Panneman, Zelia Corradi

|Jan 29, 2021
A novel phenotype in a family with autosomal dominant retinal dystrophy due to c.1430A > G in retinoid isomerohydrolase (RPE65) and c.37C > T in bestrophin 1 (BEST1).

Juanita Pappalardo, Rachael C Heath Jeffery, Jennifer A Thompson

Pageof 2