Daphne J. Smits

Rotterdam, ZH, Netherlands

Last Updated: 09/26/2026

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Found 14 publications

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

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

Biallelic NDC1 variants that interfere with ALADIN binding are associated with neuropathy and triple A-like syndrome.

Biallelic NDC1 variants that interfere with ALADIN binding are associated with neuropathy and triple A-like syndrome.

Journal: HGG advances

Published: November 14, 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

CLEC16A interacts with retromer and TRIM27, and its loss impairs endosomal trafficking and neurodevelopment.

CLEC16A interacts with retromer and TRIM27, and its loss impairs endosomal trafficking and neurodevelopment.

Journal: Human genetics

Published: September 21, 2022

SMPD4 regulates mitotic nuclear envelope dynamics and its loss causes microcephaly and diabetes.

SMPD4 regulates mitotic nuclear envelope dynamics and its loss causes microcephaly and diabetes.

Journal: Brain : a journal of neurology

Published: September 07, 2022

Web-accessible application for identifying pathogenic transcripts with RNA-seq: Increased sensitivity in diagnosis of neurodevelopmental disorders.

Web-accessible application for identifying pathogenic transcripts with RNA-seq: Increased sensitivity in diagnosis of neurodevelopmental disorders.

Journal: American journal of human genetics

Published: July 08, 2022

Expanding the Allelic Heterogeneity of ANO10-Associated Autosomal Recessive Cerebellar Ataxia.

Expanding the Allelic Heterogeneity of ANO10-Associated Autosomal Recessive Cerebellar Ataxia.

Journal: Neurology. Genetics

Published: June 02, 2022

Rare germline heterozygous missense variants in BRCA1-associated protein 1, BAP1, cause a syndromic neurodevelopmental disorder.

Rare germline heterozygous missense variants in BRCA1-associated protein 1, BAP1, cause a syndromic neurodevelopmental disorder.

Journal: American journal of human genetics

Published: July 22, 2021

Multidisciplinary interaction and MCD gene discovery. The perspective of the clinical geneticist.

Multidisciplinary interaction and MCD gene discovery. The perspective of the clinical geneticist.

Journal: European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society

Published: May 31, 2021

Reduction of oxidative stress suppresses poly-GR-mediated toxicity in zebrafish embryos.

Reduction of oxidative stress suppresses poly-GR-mediated toxicity in zebrafish embryos.

Journal: Disease models & mechanisms

Published: May 02, 2021

Biallelic DAB1 Variants Are Associated With Mild Lissencephaly and Cerebellar Hypoplasia.

Biallelic DAB1 Variants Are Associated With Mild Lissencephaly and Cerebellar Hypoplasia.

Journal: Neurology. Genetics

Published: September 03, 2020

Showing 1-12 of 14

Last Updated: 09/26/2026