Frank T. Sleutels

Rotterdam, ZH, Netherlands

Last Updated: 09/26/2026

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Found 23 publications

Publisher Correction: Biallelic variants in RNU2-2 cause the most prevalent known recessive neurodevelopmental disorder.

Publisher Correction: Biallelic variants in RNU2-2 cause the most prevalent known recessive neurodevelopmental disorder.

Journal: Nature genetics

Published: April 23, 2026

Biallelic variants in RNU2-2 cause the most prevalent known recessive neurodevelopmental disorder.

Biallelic variants in RNU2-2 cause the most prevalent known recessive neurodevelopmental disorder.

Journal: Nature genetics

Published: August 21, 2025

Palindrome-mediated 16p13.3 triplications cause a recognizable neurodegenerative disorder with ataxia.

Palindrome-mediated 16p13.3 triplications cause a recognizable neurodegenerative disorder with ataxia.

Journal: American journal of human genetics

Published: July 28, 2025

Nanopore long-read sequencing for the critically ill facilitates ultrarapid diagnostics and urgent clinical decision making.

Nanopore long-read sequencing for the critically ill facilitates ultrarapid diagnostics and urgent clinical decision making.

Journal: European journal of human genetics : EJHG

Published: March 24, 2025

Routine RNA-based analysis of potential splicing variants facilitates genomic diagnostics and reveals limitations of in silico prediction tools.

Routine RNA-based analysis of potential splicing variants facilitates genomic diagnostics and reveals limitations of in silico prediction tools.

Journal: HGG advances

Published: February 27, 2025

Clinical utility of DNA-methylation signatures in routine diagnostics for neurodevelopmental disorders.

Clinical utility of DNA-methylation signatures in routine diagnostics for neurodevelopmental disorders.

Journal: European journal of human genetics : EJHG

Published: February 13, 2025

Mutations in the small nuclear RNA gene RNU2-2 cause a severe neurodevelopmental disorder with prominent epilepsy.

Mutations in the small nuclear RNA gene RNU2-2 cause a severe neurodevelopmental disorder with prominent epilepsy.

Journal: Nature genetics

Published: September 13, 2024

BRCC3 -Associated Syndromic Moyamoya Angiopathy Diagnosed Through Clinical RNA Sequencing.

BRCC3 -Associated Syndromic Moyamoya Angiopathy Diagnosed Through Clinical RNA Sequencing.

Journal: Clinical genetics

Published: September 11, 2024

The High Diagnostic Yield of Prenatal Exome Sequencing Followed by 3400 Gene Panel Analysis in 629 Ongoing Pregnancies With Ultrasound Anomalies.

The High Diagnostic Yield of Prenatal Exome Sequencing Followed by 3400 Gene Panel Analysis in 629 Ongoing Pregnancies With Ultrasound Anomalies.

Journal: Prenatal diagnosis

Published: July 10, 2024

Early-Onset Pectus Excavatum Is More Likely to Be Part of a Genetic Variation.

Early-Onset Pectus Excavatum Is More Likely to Be Part of a Genetic Variation.

Journal: European journal of pediatric surgery : official journal of Austrian Association of Pediatric Surgery ... [et al] = Zeitschrift fur Kinderchirurgie

Published: April 26, 2023

De novo MCM6 variants in neurodevelopmental disorders: a recognizable phenotype related to zinc binding residues.

De novo MCM6 variants in neurodevelopmental disorders: a recognizable phenotype related to zinc binding residues.

Journal: Human genetics

Published: March 08, 2023

Certain heterozygous variants in the kinase domain of the serine/threonine kinase NEK8 can cause an autosomal dominant form of polycystic kidney disease.

Certain heterozygous variants in the kinase domain of the serine/threonine kinase NEK8 can cause an autosomal dominant form of polycystic kidney disease.

Journal: Kidney international

Published: July 29, 2022

Showing 1-12 of 23

Last Updated: 09/26/2026