Alberta J. Thiadens

Rotterdam, ZH, Netherlands

Last Updated: 09/26/2026

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Found 61 publications

Identification of a Duplication in the RP17 Locus in an Individual With Pathogenic CEP290 Variants: Implications for RP17 Variant Classification.

Identification of a Duplication in the RP17 Locus in an Individual With Pathogenic CEP290 Variants: Implications for RP17 Variant Classification.

Journal: Investigative ophthalmology & visual science

Published: August 03, 2026

Uncovering the Genetic Architecture of Optic Nerve Integrity Estimates through Genome-wide Association Study Meta-analyses.

Uncovering the Genetic Architecture of Optic Nerve Integrity Estimates through Genome-wide Association Study Meta-analyses.

Journal: medRxiv : the preprint server for health sciences

Published: February 12, 2026

CRB1-Associated Inherited Retinal Dystrophies: Prospective Natural History Study With 4 Years of Follow-Up.

CRB1-Associated Inherited Retinal Dystrophies: Prospective Natural History Study With 4 Years of Follow-Up.

Journal: Clinical & experimental ophthalmology

Published: January 24, 2026

RPE65 Variant p.(E519K) Causes a Novel Dominant Adult-Onset Maculopathy in 83 Affected Individuals.

RPE65 Variant p.(E519K) Causes a Novel Dominant Adult-Onset Maculopathy in 83 Affected Individuals.

Journal: Investigative ophthalmology & visual science

Published: September 23, 2025

De novo and inherited dominant variants in U4 and U6 snRNA genes cause retinitis pigmentosa.

De novo and inherited dominant variants in U4 and U6 snRNA genes cause retinitis pigmentosa.

Journal: Nature genetics

Published: June 02, 2025

RPE65 variant p.(E519K) causes a novel dominant adult-onset maculopathy in 83 affected individuals.

RPE65 variant p.(E519K) causes a novel dominant adult-onset maculopathy in 83 affected individuals.

Journal: Research square

Published: May 19, 2025

Natural History of Autosomal Recessive IMPG2-Associated Retinal Dystrophy.

Natural History of Autosomal Recessive IMPG2-Associated Retinal Dystrophy.

Journal: American journal of ophthalmology

Published: January 03, 2025

CNN-Based Device-Agnostic Feature Extraction From ONH OCT Scans.

CNN-Based Device-Agnostic Feature Extraction From ONH OCT Scans.

Journal: Translational vision science & technology

Published: December 03, 2024

Performance of Polygenic Risk Scores for Primary Open-Angle Glaucoma in Populations of African Descent.

Performance of Polygenic Risk Scores for Primary Open-Angle Glaucoma in Populations of African Descent.

Journal: JAMA ophthalmology

Published: November 14, 2024

Diagnostic whole exome sequencing in presumably autosomal recessive inherited retinal dystrophies in an Iranian population.

Diagnostic whole exome sequencing in presumably autosomal recessive inherited retinal dystrophies in an Iranian population.

Journal: Scientific reports

Published: November 11, 2024

Bi-allelic loss-of-function variants in POC5 cause a syndromic retinal, endocrine, and neuromuscular ciliopathy.

Bi-allelic loss-of-function variants in POC5 cause a syndromic retinal, endocrine, and neuromuscular ciliopathy.

Journal: Genetics in medicine : official journal of the American College of Medical Genetics

Published: October 29, 2024

Impact of switching from the originator adalimumab to a biosimilar: a retrospective cohort study.

Impact of switching from the originator adalimumab to a biosimilar: a retrospective cohort study.

Journal: BMC immunology

Published: October 18, 2024

Showing 1-12 of 61

Last Updated: 09/26/2026