Richard N Sather (Richard Sather)

Publication Activity (10 Years)

Years Active: 2023-2024
Publications (10 Years): 4

Top Topics

Chronic Kidney Disease

Ejection Fraction

Diabetic Retinopathy

Top Venues

International journal of molecular sciences

Ophthalmic genetics

This page only lists publications with an associated author ORCID identifier.

Publications

Richard N Sather, Caroline Brown, Sandra R Montezuma
Case report on a de novo variant in the X-linked PRPS1 gene presenting with retinal dystrophy, severe tremors, and ataxia in a female patient. Ophthalmic genetics (2024)
Richard N Sather, Jacie Ihinger, Michael Simmons, Glenn P Lobo, Sandra R Montezuma
The Clinical Findings, Pathogenic Variants, and Gene Therapy Qualifications Found in a Leber Congenital Amaurosis Phenotypic Spectrum Patient Cohort. International journal of molecular sciences 25 (2) (2024)
Richard N Sather, Jacie Ihinger, Michael Simmons, Glenn P Lobo, Sandra R Montezuma
The Clinical Findings, Pathogenic Variants, and Gene Therapy Qualifications Found in a Leber Congenital Amaurosis Phenotypic Spectrum Patient Cohort. International journal of molecular sciences 25 (2) (2024)
Richard N Sather, Jacie Ihinger, Michael Simmons, Tahsin Khundkar, Glenn P Lobo, Sandra R Montezuma
Clinical Characteristics and Genetic Variants of a Large Cohort of Patients with Retinitis Pigmentosa Using Multimodal Imaging and Next Generation Sequencing. International journal of molecular sciences 24 (13) (2023)