Thales C. De Guimaraes

London, ENG, United Kingdom

Last Updated: 09/26/2026

Save publications for later

Sign Up

Not sure about your diagnosis?

Check Your Symptoms

Found 38 publications

MERTK-associated retinal dystrophy: clinical course and imaging.

MERTK-associated retinal dystrophy: clinical course and imaging.

Journal: Ophthalmic genetics

Published: May 04, 2026

CDH23-associated Usher syndrome: genotype-phenotype correlations.

CDH23-associated Usher syndrome: genotype-phenotype correlations.

Journal: Ophthalmic genetics

Published: February 19, 2026

Clinical Findings and Molecular Genetics of USH1C-Associated Usher Syndrome.

Clinical Findings and Molecular Genetics of USH1C-Associated Usher Syndrome.

Journal: JAMA ophthalmology

Published: November 26, 2025

Genetic and Phenotypic Characterization of a Large Cohort of Patients with BBS1-Retinopathy.

Genetic and Phenotypic Characterization of a Large Cohort of Patients with BBS1-Retinopathy.

Journal: Ophthalmology science

Published: September 20, 2025

Stargardt's Connected Research Network Inaugural Meeting: Landscape Review and Horizon Scanning of Stargardt Disease.

Stargardt's Connected Research Network Inaugural Meeting: Landscape Review and Horizon Scanning of Stargardt Disease.

Journal: Translational vision science & technology

Published: September 17, 2025

Antisense oligonucleotide allele-specific targeting of EFEMP1 in a patient-derived model of Doyne honeycomb retinal dystrophy.

Antisense oligonucleotide allele-specific targeting of EFEMP1 in a patient-derived model of Doyne honeycomb retinal dystrophy.

Journal: Molecular therapy. Nucleic acids

Published: August 15, 2025

Quantification of Optical Coherence Tomography Features in >3500 Patients with Inherited Retinal Disease Reveals Novel Genotype-Phenotype Associations.

Quantification of Optical Coherence Tomography Features in >3500 Patients with Inherited Retinal Disease Reveals Novel Genotype-Phenotype Associations.

Journal: medRxiv : the preprint server for health sciences

Published: July 09, 2025

Automated Quantification of Decreased Fundus Autofluorescence in Stargardt Disease Using Starguage: Validation against Manual Grading Standards.

Automated Quantification of Decreased Fundus Autofluorescence in Stargardt Disease Using Starguage: Validation against Manual Grading Standards.

Journal: Ophthalmology science

Published: July 08, 2025

SNRNP200- Associated Retinopathy: In-Depth Clinical Phenotyping and Genetic Characterization.

SNRNP200- Associated Retinopathy: In-Depth Clinical Phenotyping and Genetic Characterization.

Journal: American journal of ophthalmology

Published: May 31, 2025

Distance From the Foveal Center: A Method for the Calculation of Eccentric Fixation.

Distance From the Foveal Center: A Method for the Calculation of Eccentric Fixation.

Journal: Translational vision science & technology

Published: May 06, 2025

Detailed Clinical, Ophthalmic, and Genetic Characterization of MYO7A-Associated Usher Syndrome.

Detailed Clinical, Ophthalmic, and Genetic Characterization of MYO7A-Associated Usher Syndrome.

Journal: Investigative ophthalmology & visual science

Published: April 21, 2025

Perspectives on the Current and Future State of Artificial Intelligence in Medical Genetics.

Perspectives on the Current and Future State of Artificial Intelligence in Medical Genetics.

Journal: American journal of medical genetics. Part A

Published: January 31, 2025

Showing 1-12 of 38

Last Updated: 09/26/2026