Helger G. Yntema

Nijmegen, GE, Netherlands

Last Updated: 09/26/2026

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Found 119 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

Distinct mechanisms of CNV formation at the human 15q13.3 locus.

Distinct mechanisms of CNV formation at the human 15q13.3 locus.

Journal: bioRxiv : the preprint server for biology

Published: March 23, 2026

Near-perfect genome sequencing in medical genetics.

Near-perfect genome sequencing in medical genetics.

Journal: Nature genetics

Published: February 04, 2026

Towards responsible genome-wide screening: normative and stakeholder considerations.

Towards responsible genome-wide screening: normative and stakeholder considerations.

Journal: European journal of human genetics : EJHG

Published: January 30, 2026

Unsolicited findings in genomic testing: what do we tell the patient?

Unsolicited findings in genomic testing: what do we tell the patient?

Journal: Nederlands tijdschrift voor geneeskunde

Published: December 24, 2025

Cochlear Implantation Outcomes in Genotyped Subjects with Sensorineural Hearing Loss.

Cochlear Implantation Outcomes in Genotyped Subjects with Sensorineural Hearing Loss.

Journal: Journal of the Association for Research in Otolaryngology : JARO

Published: January 16, 2025

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

Exome variant prioritization in a large cohort of hearing-impaired individuals indicates IKZF2 to be associated with non-syndromic hearing loss and guides future research of unsolved cases.

Exome variant prioritization in a large cohort of hearing-impaired individuals indicates IKZF2 to be associated with non-syndromic hearing loss and guides future research of unsolved cases.

Journal: Human genetics

Published: July 29, 2024

Long-Term Outcomes of Cochlear Implantation in Usher Syndrome.

Long-Term Outcomes of Cochlear Implantation in Usher Syndrome.

Journal: Ear and hearing

Published: July 11, 2024

Clinical exome sequencing data from patients with inborn errors of immunity: Cohort level diagnostic yield and the benefit of systematic reanalysis.

Clinical exome sequencing data from patients with inborn errors of immunity: Cohort level diagnostic yield and the benefit of systematic reanalysis.

Journal: Clinical immunology (Orlando, Fla.)

Published: June 11, 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

Showing 1-12 of 119

Last Updated: 09/26/2026