Savita Madhusudhan

6 West Derby Street
Liverpool, ENG, United Kingdom

Last Updated: 09/26/2026

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Found 32 publications

Whole-genome sequencing uncovers diverse genetic causes and phenotypic signatures in infantile nystagmus and albinism.

Whole-genome sequencing uncovers diverse genetic causes and phenotypic signatures in infantile nystagmus and albinism.

Journal: NPJ genomic medicine

Published: September 30, 2025

Charles Bonnet syndrome in adults with inherited retinal disease: prevalence and patient perspectives.

Charles Bonnet syndrome in adults with inherited retinal disease: prevalence and patient perspectives.

Journal: BMJ open ophthalmology

Published: January 17, 2025

Inherited retinal disease pathway in the UK: a patient perspective and the potential of AI.

Inherited retinal disease pathway in the UK: a patient perspective and the potential of AI.

Journal: The British journal of ophthalmology

Published: January 03, 2025

Biallelic Loss-of-Function Variants in UBAP1L and Nonsyndromic Retinal Dystrophies.

Biallelic Loss-of-Function Variants in UBAP1L and Nonsyndromic Retinal Dystrophies.

Journal: JAMA ophthalmology

Published: September 26, 2024

Bi-allelic variants in three genes encoding distinct subunits of the vesicular AP-5 complex cause hereditary macular dystrophy.

Bi-allelic variants in three genes encoding distinct subunits of the vesicular AP-5 complex cause hereditary macular dystrophy.

Journal: American journal of human genetics

Published: September 12, 2024

Next-generation phenotyping of inherited retinal diseases from multimodal imaging with Eye2Gene.

Next-generation phenotyping of inherited retinal diseases from multimodal imaging with Eye2Gene.

Journal: Nature machine intelligence

Published: September 09, 2024

Retinograd-AI: An Open-Source Automated Fundus Autofluorescence Retinal Image Gradability Assessment for Inherited Retinal Diseases.

Retinograd-AI: An Open-Source Automated Fundus Autofluorescence Retinal Image Gradability Assessment for Inherited Retinal Diseases.

Journal: Ophthalmology science

Published: August 07, 2024

Retinograd-AI: An Open-Source Automated Fundus Autofluorescence Retinal Image Gradability Assessment for Inherited Retinal Diseases.

Retinograd-AI: An Open-Source Automated Fundus Autofluorescence Retinal Image Gradability Assessment for Inherited Retinal Diseases.

Journal: Ophthalmology science

Published: August 07, 2024

Quantification of Fundus Autofluorescence Features in a Molecularly Characterized Cohort of >3500 Patients with Inherited Retinal Disease from the United Kingdom.

Quantification of Fundus Autofluorescence Features in a Molecularly Characterized Cohort of >3500 Patients with Inherited Retinal Disease from the United Kingdom.

Journal: Ophthalmology science

Published: August 02, 2024

Study protocol: optical coherence tomography angiography for the detection of neovascular age-related macular degeneration: a comprehensive multicentre diagnostic accuracy study in the UK-the ATHENA study.

Study protocol: optical coherence tomography angiography for the detection of neovascular age-related macular degeneration: a comprehensive multicentre diagnostic accuracy study in the UK-the ATHENA study.

Journal: BMJ open

Published: May 31, 2024

Linking Vascular Structure and Function: Image-Based Virtual Populations of the Retina.

Linking Vascular Structure and Function: Image-Based Virtual Populations of the Retina.

Journal: Investigative ophthalmology & visual science

Published: April 29, 2024

Quantification of Fundus Autofluorescence Features in a Molecularly Characterized Cohort of More Than 3500 Inherited Retinal Disease Patients from the United Kingdom.

Quantification of Fundus Autofluorescence Features in a Molecularly Characterized Cohort of More Than 3500 Inherited Retinal Disease Patients from the United Kingdom.

Journal: medRxiv : the preprint server for health sciences

Published: April 08, 2024

Showing 1-12 of 32

Last Updated: 09/26/2026