Daan M. Panneman

Nijmegen, GE, Netherlands

Last Updated: 09/26/2026

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Found 31 publications

Clinical and molecular features of PRCD-associated retinopathy.

Clinical and molecular features of PRCD-associated retinopathy.

Journal: Acta ophthalmologica

Published: May 07, 2026

The Genetic Landscape of Inherited Retinal Diseases in the Israeli Population.

The Genetic Landscape of Inherited Retinal Diseases in the Israeli Population.

Journal: Investigative ophthalmology & visual science

Published: April 13, 2026

Translational lipidomics reveals BMP and its precursor LPG as biomarkers for CLN5 Batten disease.

Translational lipidomics reveals BMP and its precursor LPG as biomarkers for CLN5 Batten disease.

Journal: bioRxiv : the preprint server for biology

Published: March 27, 2026

Translational lipidomics reveals BMP and its precursor LPG as biomarkers for CLN5 Batten disease.

Translational lipidomics reveals BMP and its precursor LPG as biomarkers for CLN5 Batten disease.

Journal: bioRxiv : the preprint server for biology

Published: March 27, 2026

The landscape of variants in pre-mRNA-processing factor genes in an Irish cohort.

The landscape of variants in pre-mRNA-processing factor genes in an Irish cohort.

Journal: Genetics in medicine open

Published: September 11, 2025

Minigene Splice Assays Allow Pathogenicity Reclassification of RPE65 Variants of Uncertain Significance.

Minigene Splice Assays Allow Pathogenicity Reclassification of RPE65 Variants of Uncertain Significance.

Journal: Genes

Published: June 30, 2025

Expansion of the ABCA4-Associated Retinopathy Spectrum: Severe Variants Can be Associated With Early-Onset Severe Retinal Dystrophy.

Expansion of the ABCA4-Associated Retinopathy Spectrum: Severe Variants Can be Associated With Early-Onset Severe Retinal Dystrophy.

Journal: Investigative ophthalmology & visual science

Published: June 04, 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

Phenotypic and Genotypic Characterization of 171 Patients with Syndromic Inherited Retinal Diseases Highlights the Importance of Genetic Testing for Accurate Clinical Diagnosis.

Phenotypic and Genotypic Characterization of 171 Patients with Syndromic Inherited Retinal Diseases Highlights the Importance of Genetic Testing for Accurate Clinical Diagnosis.

Journal: Genes

Published: May 25, 2025

Elevated Plasma Complement Factors in CRB1-Associated Inherited Retinal Dystrophies.

Elevated Plasma Complement Factors in CRB1-Associated Inherited Retinal Dystrophies.

Journal: Investigative ophthalmology & visual science

Published: February 21, 2025

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

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

Journal: medRxiv : the preprint server for health sciences

Published: January 20, 2025

Targeted long-read cDNA sequencing reveals novel splice-altering pathogenic variants causing retinal dystrophies.

Targeted long-read cDNA sequencing reveals novel splice-altering pathogenic variants causing retinal dystrophies.

Journal: HGG advances

Published: January 09, 2025

Showing 1-12 of 31

Last Updated: 09/26/2026