Astrid S. Plomp

Amsterdam, NH, Netherlands

Last Updated: 09/26/2026

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Found 45 publications

Biallelic loss-of-function variants in DSCAM cause a neurodevelopmental syndrome with nystagmus and retinal dysfunction.

Biallelic loss-of-function variants in DSCAM cause a neurodevelopmental syndrome with nystagmus and retinal dysfunction.

Journal: HGG advances

Published: January 17, 2026

Letter in Response to Verschuere et al.

Letter in Response to Verschuere et al.

Journal: The Journal of investigative dermatology

Published: August 08, 2025

Letter in Response to Verschuere et al.

Letter in Response to Verschuere et al.

Journal: The Journal of investigative dermatology

Published: August 08, 2025

Pseudocolobomatous autosomal dominant atrophic maculopathy (PADAM).

Pseudocolobomatous autosomal dominant atrophic maculopathy (PADAM).

Journal: Ophthalmic genetics

Published: May 26, 2025

Pseudoxanthoma Elasticum: The Diagnostic Accuracy of Genetic Testing Compared with Clinical Criteria in a Large Cohort.

Pseudoxanthoma Elasticum: The Diagnostic Accuracy of Genetic Testing Compared with Clinical Criteria in a Large Cohort.

Journal: The Journal of investigative dermatology

Published: December 24, 2024

Two pairs of CACNA1I (CaV3.3) variants with opposite effects on channel function cause neurodevelopmental disorders of varying severity.

Two pairs of CACNA1I (CaV3.3) variants with opposite effects on channel function cause neurodevelopmental disorders of varying severity.

Journal: PLoS genetics

Published: December 23, 2024

Frequency and Genetic Spectrum of Inherited Retinal Dystrophies in a Large Dutch Pediatric Cohort: The RD5000 Consortium.

Frequency and Genetic Spectrum of Inherited Retinal Dystrophies in a Large Dutch Pediatric Cohort: The RD5000 Consortium.

Journal: Investigative ophthalmology & visual science

Published: August 27, 2024

Syndromic retinitis pigmentosa.

Syndromic retinitis pigmentosa.

Journal: Progress in retinal and eye research

Published: July 17, 2024

PTBP1 variants displaying altered nucleocytoplasmic distribution are responsible for a neurodevelopmental disorder with skeletal dysplasia.

PTBP1 variants displaying altered nucleocytoplasmic distribution are responsible for a neurodevelopmental disorder with skeletal dysplasia.

Journal: The Journal of clinical investigation

Published: April 26, 2024

Comprehensive EHMT1 variants analysis broadens genotype-phenotype associations and molecular mechanisms in Kleefstra syndrome.

Comprehensive EHMT1 variants analysis broadens genotype-phenotype associations and molecular mechanisms in Kleefstra syndrome.

Journal: American journal of human genetics

Published: April 01, 2024

Leber's hereditary optic neuropathy like disease in MT-ATP6 variant m.8969G>A.

Leber's hereditary optic neuropathy like disease in MT-ATP6 variant m.8969G>A.

Journal: American journal of ophthalmology case reports

Published: December 13, 2023

DNA methylation episignature and comparative epigenomic profiling for Pitt-Hopkins syndrome caused by TCF4 variants.

DNA methylation episignature and comparative epigenomic profiling for Pitt-Hopkins syndrome caused by TCF4 variants.

Journal: HGG advances

Published: November 13, 2023

Showing 1-12 of 45

Last Updated: 09/26/2026