Eddy N. De Boer

Groningen, GR, Netherlands

Last Updated: 09/26/2026

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Found 18 publications

Long-read sequencing cracks unsolved cases and further improves genome diagnostics in epidermolysis bullosa.

Long-read sequencing cracks unsolved cases and further improves genome diagnostics in epidermolysis bullosa.

Journal: Journal of dermatological science
Published: April 01, 2025

Nanopore Long-Read Sequencing as a First-Tier Diagnostic Test to Detect Repeat Expansions in Neurological Disorders.

Nanopore Long-Read Sequencing as a First-Tier Diagnostic Test to Detect Repeat Expansions in Neurological Disorders.

Journal: International journal of molecular sciences
Published: February 24, 2025

Limitations of Semi-Automated Immunomagnetic Separation of HLA-G-Positive Trophoblasts from Papanicolaou Smears for Prenatal Genetic Diagnostics.

Limitations of Semi-Automated Immunomagnetic Separation of HLA-G-Positive Trophoblasts from Papanicolaou Smears for Prenatal Genetic Diagnostics.

Journal: Diagnostics (Basel, Switzerland)
Published: November 11, 2024

Identification and Copy Number Variant Analysis of Enhancer Regions of Genes Causing Spinocerebellar Ataxia.

Identification and Copy Number Variant Analysis of Enhancer Regions of Genes Causing Spinocerebellar Ataxia.

Journal: International journal of molecular sciences
Published: September 07, 2024

Future of Dutch NGS-Based Newborn Screening: Exploring the Technical Possibilities and Assessment of a Variant Classification Strategy.

Future of Dutch NGS-Based Newborn Screening: Exploring the Technical Possibilities and Assessment of a Variant Classification Strategy.

Journal: International journal of neonatal screening
Published: January 22, 2024

Cas9-directed long-read sequencing to resolve optical genome mapping findings in leukemia diagnostics.

Cas9-directed long-read sequencing to resolve optical genome mapping findings in leukemia diagnostics.

Journal: Scientific reports
Published: August 30, 2023

Copy Number Variant Analysis of Spinocerebellar Ataxia Genes in a Cohort of Dutch Patients With Cerebellar Ataxia.

Copy Number Variant Analysis of Spinocerebellar Ataxia Genes in a Cohort of Dutch Patients With Cerebellar Ataxia.

Journal: Neurology. Genetics
Published: June 06, 2022

Prevalence of intronic repeat expansions in RFC1 in Dutch patients with CANVAS and adult-onset ataxia.

Prevalence of intronic repeat expansions in RFC1 in Dutch patients with CANVAS and adult-onset ataxia.

Journal: Journal of neurology
Published: May 05, 2022

Targeted RNA-Sequencing Enables Detection of Relevant Translocations and Single Nucleotide Variants and Provides a Method for Classification of Hematological Malignancies-RANKING.

Targeted RNA-Sequencing Enables Detection of Relevant Translocations and Single Nucleotide Variants and Provides a Method for Classification of Hematological Malignancies-RANKING.

Journal: Clinical chemistry
Published: May 01, 2020

Detection of Fusion Genes to Determine Minimal Residual Disease in Leukemia Using Next-Generation Sequencing.

Detection of Fusion Genes to Determine Minimal Residual Disease in Leukemia Using Next-Generation Sequencing.

Journal: Clinical chemistry
Published: February 14, 2020

A next-generation sequencing method for gene doping detection that distinguishes low levels of plasmid DNA against a background of genomic DNA.

A next-generation sequencing method for gene doping detection that distinguishes low levels of plasmid DNA against a background of genomic DNA.

Journal: Gene therapy
Published: March 06, 2019

NIPTeR: an R package for fast and accurate trisomy prediction in non-invasive prenatal testing.

NIPTeR: an R package for fast and accurate trisomy prediction in non-invasive prenatal testing.

Journal: BMC bioinformatics
Published: October 02, 2018
Showing 1-12 of 18

Last Updated: 09/26/2026