Richard Sather

3PUBLICATIONS
2CO-AUTHORS
Paediatrics not elsewhere classifiedGene expression (incl. microarray and other genome-wide approaches)Epigenetics (incl. genome methylation and epigenomics)
Featured researcher

Get your video featured.

JoVEPublish with JoVE
Journal

Publications (3)

|Aug 16, 2024
Case report on a de novo variant in the X-linked <i>PRPS1</i> gene presenting with retinal dystrophy, severe tremors, and ataxia in a female patient.

Richard N Sather, Caroline Brown, Sandra R Montezuma

|Jan 27, 2024
The Clinical Findings, Pathogenic Variants, and Gene Therapy Qualifications Found in a Leber Congenital Amaurosis Phenotypic Spectrum Patient Cohort.

Richard Sather, Jacie Ihinger, Michael Simmons

|Jul 14, 2023
Clinical Characteristics and Genetic Variants of a Large Cohort of Patients with Retinitis Pigmentosa Using Multimodal Imaging and Next Generation Sequencing.

Richard Sather, Jacie Ihinger, Michael Simmons

Pageof 1

Frequent Collaborators

3 joint publications

Sandra R Montezuma

1 joint publications

Tahsin Khundkar