Raoul J. Timmermans

Nijmegen, GE, Netherlands

Last Updated: 09/26/2026

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Found 12 publications

Clinical Long-Read Genome Sequencing for Rare-Disease Diagnostics.

Clinical Long-Read Genome Sequencing for Rare-Disease Diagnostics.

Journal: The New England journal of medicine

Published: June 15, 2026

HiFi sequencing accurately identifies clinically relevant variants in paralogous genes.

HiFi sequencing accurately identifies clinically relevant variants in paralogous genes.

Journal: American journal of human genetics

Published: December 22, 2025

Optical Genome Mapping for the Identification of Complex Structural Variants in Hereditary Angioedema.

Optical Genome Mapping for the Identification of Complex Structural Variants in Hereditary Angioedema.

Journal: Journal of clinical immunology

Published: June 27, 2025

Targeted long-read cDNA sequencing reveals novel splice-altering pathogenic variants causing retinal dystrophies.

Targeted long-read cDNA sequencing reveals novel splice-altering pathogenic variants causing retinal dystrophies.

Journal: HGG advances

Published: January 09, 2025

Deciphering the largest disease-associated transcript isoforms in the human neural retina with advanced long-read sequencing approaches.

Deciphering the largest disease-associated transcript isoforms in the human neural retina with advanced long-read sequencing approaches.

Journal: Genome research

Published: September 24, 2024

Genome-wide methylation detection and episignature analysis using PacBio long-read sequencing.

Genome-wide methylation detection and episignature analysis using PacBio long-read sequencing.

Journal: Genome medicine

Published: September 16, 2024

HiFi long-read genomes for difficult-to-detect, clinically relevant variants.

HiFi long-read genomes for difficult-to-detect, clinically relevant variants.

Journal: American journal of human genetics

Published: August 31, 2024

Uncovering recessive alleles in rare Mendelian disorders by genome sequencing of 174 individuals with monoallelic pathogenic variants.

Uncovering recessive alleles in rare Mendelian disorders by genome sequencing of 174 individuals with monoallelic pathogenic variants.

Journal: European journal of human genetics : EJHG

Published: April 26, 2024

Innovative all-in-one exome sequencing strategy for diagnostic genetic testing in male infertility: Validation and 10-month experience.

Innovative all-in-one exome sequencing strategy for diagnostic genetic testing in male infertility: Validation and 10-month experience.

Journal: Andrology

Published: April 12, 2024

Lipopeptide-mediated Cas9 RNP delivery: A promising broad therapeutic strategy for safely removing deep-intronic variants in ABCA4.

Lipopeptide-mediated Cas9 RNP delivery: A promising broad therapeutic strategy for safely removing deep-intronic variants in ABCA4.

Journal: Molecular therapy. Nucleic acids

Published: December 28, 2023

Detection of DNA Contamination in Prenatal Samples from Whole Exome Sequencing Data.

Detection of DNA Contamination in Prenatal Samples from Whole Exome Sequencing Data.

Journal: Clinical chemistry

Published: August 21, 2023

All-in-one whole exome sequencing strategy with simultaneous copy number variant, single nucleotide variant and absence-of-heterozygosity analysis in fetuses with structural ultrasound anomalies: A 1-year experience.

All-in-one whole exome sequencing strategy with simultaneous copy number variant, single nucleotide variant and absence-of-heterozygosity analysis in fetuses with structural ultrasound anomalies: A 1-year experience.

Journal: Prenatal diagnosis

Published: October 07, 2022

Showing 1-12 of 12

Last Updated: 09/26/2026