Sascha Vermeer

Leuven, VLG, Belgium

Last Updated: 09/26/2026

Save publications for later

Sign Up

Not sure about your diagnosis?

Check Your Symptoms

Found 32 publications

Variant Curation of the Largest Compendium of FOXL2 Coding and Noncoding Sequence and Structural Variants in BPES.

Variant Curation of the Largest Compendium of FOXL2 Coding and Noncoding Sequence and Structural Variants in BPES.

Journal: Human mutation

Published: October 26, 2025

Late diagnosis of Heimler syndrome and review of the genetic and phenotypic spectrum.

Late diagnosis of Heimler syndrome and review of the genetic and phenotypic spectrum.

Journal: Ophthalmic genetics

Published: October 23, 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: Investigative ophthalmology & visual science

Published: September 23, 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

Correction to: PHARC syndrome: an overview.

Correction to: PHARC syndrome: an overview.

Journal: Orphanet journal of rare diseases

Published: January 08, 2025

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

Hypogonadotropic Hypogonadism as First Presentation of the Severe Neuroendocrine Disorder Caused by RNF216.

Hypogonadotropic Hypogonadism as First Presentation of the Severe Neuroendocrine Disorder Caused by RNF216.

Journal: JCEM case reports

Published: July 24, 2024

PHARC syndrome: an overview.

PHARC syndrome: an overview.

Journal: Orphanet journal of rare diseases

Published: June 09, 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

A Case of Chorea with Slow Saccades Caused by NKX2-1 Mutation.

A Case of Chorea with Slow Saccades Caused by NKX2-1 Mutation.

Journal: Movement disorders clinical practice

Published: September 04, 2023

Intrafamilial Correlation and Variability in the Clinical Evolution of Pulmonary Fibrosis.

Intrafamilial Correlation and Variability in the Clinical Evolution of Pulmonary Fibrosis.

Journal: Chest

Published: March 24, 2023

Whole genome sequencing for USH2A-associated disease reveals several pathogenic deep-intronic variants that are amenable to splice correction.

Whole genome sequencing for USH2A-associated disease reveals several pathogenic deep-intronic variants that are amenable to splice correction.

Journal: HGG advances

Published: October 11, 2022

Showing 1-12 of 32

Last Updated: 09/26/2026