Cleo C. Van Diemen

Groningen, GR, Netherlands

Last Updated: 09/26/2026

Save publications for later

Sign Up

Not sure about your diagnosis?

Check Your Symptoms

Found 48 publications

Functional annotation of non-coding variants identifies a novel enhancer with activity in neural crest cell-derived lineages.

Functional annotation of non-coding variants identifies a novel enhancer with activity in neural crest cell-derived lineages.

Journal: Research square

Published: June 12, 2026

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

MOLGENIS VIP: an end-to-end DNA variant interpretation pipeline for research and diagnostics configurable to support rapid implementation of new methods.

MOLGENIS VIP: an end-to-end DNA variant interpretation pipeline for research and diagnostics configurable to support rapid implementation of new methods.

Journal: NAR genomics and bioinformatics

Published: January 30, 2025

High Prevalence of the Intronic GAA-FGF14 Repeat Expansion in Dutch Patients With Late-Onset Ataxia.

High Prevalence of the Intronic GAA-FGF14 Repeat Expansion in Dutch Patients With Late-Onset Ataxia.

Journal: Neurology. Genetics

Published: September 30, 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

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

Feasibility of Follow-Up Studies and Reclassification in Spinocerebellar Ataxia Gene Variants of Unknown Significance.

Feasibility of Follow-Up Studies and Reclassification in Spinocerebellar Ataxia Gene Variants of Unknown Significance.

Journal: Frontiers in genetics

Published: September 24, 2021

Strategies in Rapid Genetic Diagnostics of Critically Ill Children: Experiences From a Dutch University Hospital.

Strategies in Rapid Genetic Diagnostics of Critically Ill Children: Experiences From a Dutch University Hospital.

Journal: Frontiers in pediatrics

Published: August 30, 2020

Exome sequencing in patient-parent trios suggests new candidate genes for early-onset primary sclerosing cholangitis.

Exome sequencing in patient-parent trios suggests new candidate genes for early-onset primary sclerosing cholangitis.

Journal: Liver international : official journal of the International Association for the Study of the Liver

Published: June 08, 2020

Showing 1-12 of 48

Last Updated: 09/26/2026