Joke M. Verheij

Department Of Otorhinolaryngology/Head And Neck Surgery
Groningen, GR, Netherlands

Last Updated: 09/26/2026

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Found 28 publications

MIDPERIPHERAL RETINAL THICKENING ON WIDEFIELD OPTICAL COHERENCE TOMOGRAPHY IN A PATIENT WITH A MUTATION IN THE NR2E3 GENE.

MIDPERIPHERAL RETINAL THICKENING ON WIDEFIELD OPTICAL COHERENCE TOMOGRAPHY IN A PATIENT WITH A MUTATION IN THE NR2E3 GENE.

Journal: Retinal cases & brief reports
Published: April 17, 2026

Significance of incidental copy number variants in the Duchenne muscular dystrophy gene.

Significance of incidental copy number variants in the Duchenne muscular dystrophy gene.

Journal: Neuromuscular disorders : NMD
Published: May 28, 2025

Reply to: Pitfalls in the genetic testing of the OPN1LW-OPN1MW gene cluster in human subjects.

Reply to: Pitfalls in the genetic testing of the OPN1LW-OPN1MW gene cluster in human subjects.

Journal: NPJ genomic medicine
Published: September 26, 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

Diagnostic analysis of the highly complex OPN1LW/OPN1MW gene cluster using long-read sequencing and MLPA.

Diagnostic analysis of the highly complex OPN1LW/OPN1MW gene cluster using long-read sequencing and MLPA.

Journal: NPJ genomic medicine
Published: February 25, 2022

Parental experiences of rapid exome sequencing in cases with major ultrasound anomalies during pregnancy.

Parental experiences of rapid exome sequencing in cases with major ultrasound anomalies during pregnancy.

Journal: Prenatal diagnosis
Published: June 18, 2021

A prospective study on rapid exome sequencing as a diagnostic test for multiple congenital anomalies on fetal ultrasound.

A prospective study on rapid exome sequencing as a diagnostic test for multiple congenital anomalies on fetal ultrasound.

Journal: Prenatal diagnosis
Published: December 24, 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

Recurrent heterozygous PAX6 missense variants cause severe bilateral microphthalmia via predictable effects on DNA-protein interaction.

Recurrent heterozygous PAX6 missense variants cause severe bilateral microphthalmia via predictable effects on DNA-protein interaction.

Journal: Genetics in medicine : official journal of the American College of Medical Genetics
Published: July 24, 2019

POLR1B and neural crest cell anomalies in Treacher Collins syndrome type 4.

POLR1B and neural crest cell anomalies in Treacher Collins syndrome type 4.

Journal: Genetics in medicine : official journal of the American College of Medical Genetics
Published: June 12, 2019

Is there still a role for nuchal translucency measurement in the changing paradigm of first trimester screening?

Is there still a role for nuchal translucency measurement in the changing paradigm of first trimester screening?

Journal: Prenatal diagnosis
Published: May 09, 2019

The Common ABCA4 Variant p.Asn1868Ile Shows Nonpenetrance and Variable Expression of Stargardt Disease When Present in trans With Severe Variants.

The Common ABCA4 Variant p.Asn1868Ile Shows Nonpenetrance and Variable Expression of Stargardt Disease When Present in trans With Severe Variants.

Journal: Investigative ophthalmology & visual science
Published: July 05, 2018
Showing 1-12 of 28

Last Updated: 09/26/2026