Marieke F. Van Dooren

Rotterdam, ZH, Netherlands

Last Updated: 09/26/2026

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Found 37 publications

Genomic deletion upstream of steroid sulfatase eliminates expression of skin-expressed isoforms in X-linked ichthyosis.

Genomic deletion upstream of steroid sulfatase eliminates expression of skin-expressed isoforms in X-linked ichthyosis.

Journal: Journal of dermatological science

Published: March 09, 2026

HiFi long-read RNA sequencing enhances clinical diagnostics in rare disorders.

HiFi long-read RNA sequencing enhances clinical diagnostics in rare disorders.

Journal: European journal of human genetics : EJHG

Published: July 04, 2025

Long-read DNA and RNA sequencing reveal an intronic retrotransposon insertion in TCOF1 causing Treacher Collins syndrome.

Long-read DNA and RNA sequencing reveal an intronic retrotransposon insertion in TCOF1 causing Treacher Collins syndrome.

Journal: HGG advances

Published: May 23, 2025

The Development of a European Registry for Facial Dysostosis Syndromes: A Delphi-Guided Approach.

The Development of a European Registry for Facial Dysostosis Syndromes: A Delphi-Guided Approach.

Journal: The Journal of craniofacial surgery

Published: March 25, 2025

Unveiling the Phenotypic Spectrum of Miller Syndrome: A Systematic Review.

Unveiling the Phenotypic Spectrum of Miller Syndrome: A Systematic Review.

Journal: The Journal of craniofacial surgery

Published: March 03, 2025

Routine RNA-based analysis of potential splicing variants facilitates genomic diagnostics and reveals limitations of in silico prediction tools.

Routine RNA-based analysis of potential splicing variants facilitates genomic diagnostics and reveals limitations of in silico prediction tools.

Journal: HGG advances

Published: February 27, 2025

Clinical utility of DNA-methylation signatures in routine diagnostics for neurodevelopmental disorders.

Clinical utility of DNA-methylation signatures in routine diagnostics for neurodevelopmental disorders.

Journal: European journal of human genetics : EJHG

Published: February 13, 2025

Characteristics of autosomal dominant WFS1-associated optic neuropathy and its comparability to OPA1-associated autosomal dominant optic atrophy.

Characteristics of autosomal dominant WFS1-associated optic neuropathy and its comparability to OPA1-associated autosomal dominant optic atrophy.

Journal: Scientific reports

Published: July 03, 2024

Genetic counselling legislation and practice in cancer in EU Member States.

Genetic counselling legislation and practice in cancer in EU Member States.

Journal: European journal of public health

Published: June 21, 2024

The natural history and genotype-phenotype correlations of TMPRSS3 hearing loss: an international, multi-center, cohort analysis.

The natural history and genotype-phenotype correlations of TMPRSS3 hearing loss: an international, multi-center, cohort analysis.

Journal: Human genetics

Published: October 18, 2023

Stable long-term outcomes after cochlear implantation in subjects with TMPRSS3 associated hearing loss: a retrospective multicentre study.

Stable long-term outcomes after cochlear implantation in subjects with TMPRSS3 associated hearing loss: a retrospective multicentre study.

Journal: Journal of otolaryngology - head & neck surgery = Le Journal d'oto-rhino-laryngologie et de chirurgie cervico-faciale

Published: June 20, 2023

Genetic diagnostic yield in an 11-year cohort of craniosynostosis patients.

Genetic diagnostic yield in an 11-year cohort of craniosynostosis patients.

Journal: European journal of medical genetics

Published: April 20, 2023

Showing 1-12 of 37

Last Updated: 09/26/2026