Klaske D. Lichtenbelt

Utrecht, UT, Netherlands

Last Updated: 09/26/2026

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Found 51 publications

A novel spliceosomopathy caused by de novo SF3B3 variants.

A novel spliceosomopathy caused by de novo SF3B3 variants.

Journal: Genome medicine

Published: April 26, 2025

De novo variants in KDM2A cause a syndromic neurodevelopmental disorder.

De novo variants in KDM2A cause a syndromic neurodevelopmental disorder.

Journal: medRxiv : the preprint server for health sciences

Published: April 16, 2025

De novo variants in KDM2A cause a syndromic neurodevelopmental disorder.

De novo variants in KDM2A cause a syndromic neurodevelopmental disorder.

Journal: American journal of human genetics

Published: April 01, 2025

The clinical and genetic spectrum of inherited glycosylphosphatidylinositol deficiency disorders.

The clinical and genetic spectrum of inherited glycosylphosphatidylinositol deficiency disorders.

Journal: Brain : a journal of neurology

Published: October 06, 2023

Timing of cerebral damage in molybdenum cofactor deficiency: A meta-analysis of case reports.

Timing of cerebral damage in molybdenum cofactor deficiency: A meta-analysis of case reports.

Journal: Genetics in medicine open

Published: September 18, 2023

Clinical impact of additional findings detected by genome-wide non-invasive prenatal testing: Follow-up results of the TRIDENT-2 study.

Clinical impact of additional findings detected by genome-wide non-invasive prenatal testing: Follow-up results of the TRIDENT-2 study.

Journal: American journal of human genetics

Published: July 08, 2022

Rapid exome sequencing as a first-tier test in neonates with suspected genetic disorder: results of a prospective multicenter clinical utility study in the Netherlands.

Rapid exome sequencing as a first-tier test in neonates with suspected genetic disorder: results of a prospective multicenter clinical utility study in the Netherlands.

Journal: European journal of pediatrics

Published: June 02, 2022

Noninvasive Prenatal Test Results Indicative of Maternal Malignancies: A Nationwide Genetic and Clinical Follow-Up Study.

Noninvasive Prenatal Test Results Indicative of Maternal Malignancies: A Nationwide Genetic and Clinical Follow-Up Study.

Journal: Journal of clinical oncology : official journal of the American Society of Clinical Oncology

Published: April 08, 2022

The effects of an online decision aid to support the reproductive decision-making process of genetically at risk couples-A pilot study.

The effects of an online decision aid to support the reproductive decision-making process of genetically at risk couples-A pilot study.

Journal: Journal of genetic counseling

Published: March 30, 2022

De novo putative loss-of-function variants in TAF4 are associated with a neuro-developmental disorder.

De novo putative loss-of-function variants in TAF4 are associated with a neuro-developmental disorder.

Journal: Human mutation

Published: January 27, 2022

Clinical impact of additional findings detected by genome-wide non-invasive prenatal testing: Follow-up results of the TRIDENT-2 study.

Clinical impact of additional findings detected by genome-wide non-invasive prenatal testing: Follow-up results of the TRIDENT-2 study.

Journal: American journal of human genetics

Published: January 24, 2022

NANS-CDG: Delineation of the Genetic, Biochemical, and Clinical Spectrum.

NANS-CDG: Delineation of the Genetic, Biochemical, and Clinical Spectrum.

Journal: Frontiers in neurology

Published: February 16, 2021

Showing 1-12 of 51

Last Updated: 09/26/2026