Stephanie S. Cornelis

Nijmegen, GE, Netherlands

Last Updated: 09/26/2026

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Found 16 publications

Representation of Women Among Individuals With Mild Variants in ABCA4-Associated Retinopathy: A Meta-Analysis.

Representation of Women Among Individuals With Mild Variants in ABCA4-Associated Retinopathy: A Meta-Analysis.

Journal: JAMA ophthalmology

Published: April 11, 2024

Targeted sequencing and in vitro splice assays shed light on ABCA4-associated retinopathies missing heritability.

Targeted sequencing and in vitro splice assays shed light on ABCA4-associated retinopathies missing heritability.

Journal: HGG advances

Published: June 05, 2023

Compendium of Clinical Variant Classification for 2,246 Unique ABCA4 Variants to Clarify Variant Pathogenicity in Stargardt Disease Using a Modified ACMG/AMP Framework.

Compendium of Clinical Variant Classification for 2,246 Unique ABCA4 Variants to Clarify Variant Pathogenicity in Stargardt Disease Using a Modified ACMG/AMP Framework.

Journal: Human mutation

Published: April 06, 2023

Personalized genetic counseling for Stargardt disease: Offspring risk estimates based on variant severity.

Personalized genetic counseling for Stargardt disease: Offspring risk estimates based on variant severity.

Journal: American journal of human genetics

Published: November 03, 2021

Association of Sex With Frequent and Mild ABCA4 Alleles in Stargardt Disease.

Association of Sex With Frequent and Mild ABCA4 Alleles in Stargardt Disease.

Journal: JAMA ophthalmology

Published: August 21, 2020

In or Out? New Insights on Exon Recognition through Splice-Site Interdependency.

In or Out? New Insights on Exon Recognition through Splice-Site Interdependency.

Journal: International journal of molecular sciences

Published: February 07, 2020

Resolving the dark matter of ABCA4 for 1054 Stargardt disease probands through integrated genomics and transcriptomics.

Resolving the dark matter of ABCA4 for 1054 Stargardt disease probands through integrated genomics and transcriptomics.

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

Published: November 26, 2019

Late-Onset Stargardt Disease Due to Mild, Deep-Intronic ABCA4 Alleles.

Late-Onset Stargardt Disease Due to Mild, Deep-Intronic ABCA4 Alleles.

Journal: Investigative ophthalmology & visual science

Published: October 17, 2019

Identification of splice defects due to noncanonical splice site or deep-intronic variants in ABCA4.

Identification of splice defects due to noncanonical splice site or deep-intronic variants in ABCA4.

Journal: Human mutation

Published: May 08, 2019

Cost-effective molecular inversion probe-based ABCA4 sequencing reveals deep-intronic variants in Stargardt disease.

Cost-effective molecular inversion probe-based ABCA4 sequencing reveals deep-intronic variants in Stargardt disease.

Journal: Human mutation

Published: February 11, 2019

Author Response: Penetrance of the ABCA4 p.Asn1868Ile Allele in Stargardt Disease.

Author Response: Penetrance of the ABCA4 p.Asn1868Ile Allele in Stargardt Disease.

Journal: Investigative ophthalmology & visual science

Published: November 28, 2018

Identification and Analysis of Genes Associated with Inherited Retinal Diseases.

Identification and Analysis of Genes Associated with Inherited Retinal Diseases.

Journal: Methods in molecular biology (Clifton, N.J.)

Published: October 17, 2018

Showing 1-12 of 16

Last Updated: 09/26/2026