Jordi Corominas

Nijmegen, GE 6525GA, Netherlands

Last Updated: 09/26/2026

Save publications for later

Sign Up

Not sure about your diagnosis?

Check Your Symptoms

Found 23 publications

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

Identification of novel 3D-genome altering and complex structural variants underlying retinitis pigmentosa type 17 through a multistep and high-throughput approach.

Identification of novel 3D-genome altering and complex structural variants underlying retinitis pigmentosa type 17 through a multistep and high-throughput approach.

Journal: Frontiers in genetics

Published: July 24, 2024

Next-generation sequencing to genetically diagnose a diverse range of inherited eye disorders in 15 consanguineous families from Pakistan.

Next-generation sequencing to genetically diagnose a diverse range of inherited eye disorders in 15 consanguineous families from Pakistan.

Journal: Experimental eye research

Published: February 28, 2024

Combined Single Gene Testing and Genome Sequencing as an Effective Diagnostic Approach for Anophthalmia and Microphthalmia Patients.

Combined Single Gene Testing and Genome Sequencing as an Effective Diagnostic Approach for Anophthalmia and Microphthalmia Patients.

Journal: Genes

Published: July 11, 2023

ABCA4 c.6480-35A>G, a novel branchpoint variant associated with Stargardt disease.

ABCA4 c.6480-35A>G, a novel branchpoint variant associated with Stargardt disease.

Journal: Frontiers in genetics

Published: June 03, 2023

Optical genome mapping and revisiting short-read genome sequencing data reveal previously overlooked structural variants disrupting retinal disease-associated genes.

Optical genome mapping and revisiting short-read genome sequencing data reveal previously overlooked structural variants disrupting retinal disease-associated genes.

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

Published: July 19, 2022

Diagnostic yield of next-generation sequencing in 87 families with neurodevelopmental disorders.

Diagnostic yield of next-generation sequencing in 87 families with neurodevelopmental disorders.

Journal: Orphanet journal of rare diseases

Published: September 09, 2021

Clinical exome sequencing-Mistakes and caveats.

Clinical exome sequencing-Mistakes and caveats.

Journal: Human mutation

Published: July 10, 2021

Whole genome sequencing and in vitro splice assays reveal genetic causes for inherited retinal diseases.

Whole genome sequencing and in vitro splice assays reveal genetic causes for inherited retinal diseases.

Journal: NPJ genomic medicine

Published: May 20, 2021

Novel Compound Heterozygous Mutation in TRAPPC9 Gene: The Relevance of Whole Genome Sequencing.

Novel Compound Heterozygous Mutation in TRAPPC9 Gene: The Relevance of Whole Genome Sequencing.

Journal: Genes

Published: March 17, 2021

BBS1 branchpoint variant is associated with non-syndromic retinitis pigmentosa.

BBS1 branchpoint variant is associated with non-syndromic retinitis pigmentosa.

Journal: Journal of medical genetics

Published: December 01, 2020

Systematic analysis of short tandem repeats in 38,095 exomes provides an additional diagnostic yield.

Systematic analysis of short tandem repeats in 38,095 exomes provides an additional diagnostic yield.

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

Published: October 23, 2020

Showing 1-12 of 23

Last Updated: 09/26/2026