Mattias Van Heetvelde

Gent, VLG, Belgium

Last Updated: 09/26/2026

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Found 26 publications

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

Pharmacotherapy of cardiovascular diseases from herbs and pills to nucleic acids.

Pharmacotherapy of cardiovascular diseases from herbs and pills to nucleic acids.

Journal: European heart journal
Published: November 27, 2024

saseR: Juggling offsets unlocks RNA-seq tools for fast and Scalable differential usage, Aberrant Splicing and Expression Retrieval.

saseR: Juggling offsets unlocks RNA-seq tools for fast and Scalable differential usage, Aberrant Splicing and Expression Retrieval.

Journal: bioRxiv : the preprint server for biology
Published: October 28, 2024

Uncovering the genetic architecture of inherited retinal disease in a consanguineous Iranian cohort.

Uncovering the genetic architecture of inherited retinal disease in a consanguineous Iranian cohort.

Journal: NPJ genomic medicine
Published: October 01, 2024

saseR: juggling offsets unlocks RNA-seq tools for fast and scalable differential usage, aberrant splicing and expression retrieval.

saseR: juggling offsets unlocks RNA-seq tools for fast and scalable differential usage, aberrant splicing and expression retrieval.

Journal: Genome biology
Published: September 26, 2024

Expanding the genetic landscape of Usher syndrome type IV caused by pathogenic ARSG variants.

Expanding the genetic landscape of Usher syndrome type IV caused by pathogenic ARSG variants.

Journal: Clinical genetics
Published: May 13, 2024

How your patient is really feeling: the emotional hinterland of a cardiac diagnosis.

How your patient is really feeling: the emotional hinterland of a cardiac diagnosis.

Journal: European heart journal
Published: January 08, 2024

Autozygome-guided exome-first study in a consanguineous cohort with early-onset retinal disease uncovers an isolated RIMS2 phenotype and a retina-enriched RIMS2 isoform.

Autozygome-guided exome-first study in a consanguineous cohort with early-onset retinal disease uncovers an isolated RIMS2 phenotype and a retina-enriched RIMS2 isoform.

Journal: Clinical genetics
Published: December 20, 2023

Mutations in SAMD7 cause autosomal-recessive macular dystrophy with or without cone dysfunction.

Mutations in SAMD7 cause autosomal-recessive macular dystrophy with or without cone dysfunction.

Journal: American journal of human genetics
Published: September 11, 2023

Combining a prioritization strategy and functional studies nominates 5'UTR variants underlying inherited retinal disease.

Combining a prioritization strategy and functional studies nominates 5'UTR variants underlying inherited retinal disease.

Journal: Genome medicine
Published: June 16, 2023

Multi-omics approach dissects cis-regulatory mechanisms underlying North Carolina macular dystrophy, a retinal enhanceropathy.

Multi-omics approach dissects cis-regulatory mechanisms underlying North Carolina macular dystrophy, a retinal enhanceropathy.

Journal: American journal of human genetics
Published: May 26, 2022
Showing 1-12 of 26

Last Updated: 09/26/2026