Shimriet Zeidler

Rotterdam, ZH, Netherlands

Last Updated: 09/26/2026

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Found 28 publications

Comprehensive classification of HCN1 variants linked to neurodevelopmental disorders with and without epilepsy.

Comprehensive classification of HCN1 variants linked to neurodevelopmental disorders with and without epilepsy.

Journal: bioRxiv : the preprint server for biology

Published: March 27, 2026

Neurodevelopmental Disorder with Dystonia and Chorea Linked to De Novo Variants in the Splicing Regulator SRRM4.

Neurodevelopmental Disorder with Dystonia and Chorea Linked to De Novo Variants in the Splicing Regulator SRRM4.

Journal: Movement disorders : official journal of the Movement Disorder Society

Published: December 19, 2025

Predictive value of seizure onset for gross motor dysfunction in individuals with pathogenic GABRB2 and GABRB3 variants.

Predictive value of seizure onset for gross motor dysfunction in individuals with pathogenic GABRB2 and GABRB3 variants.

Journal: Epilepsia

Published: October 02, 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 variability in individuals with ATR-X syndrome in the Netherlands.

Clinical variability in individuals with ATR-X syndrome in the Netherlands.

Journal: European journal of medical genetics

Published: February 21, 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

A clinical and genotype-phenotype analysis of MACF1 variants.

A clinical and genotype-phenotype analysis of MACF1 variants.

Journal: American journal of human genetics

Published: January 10, 2025

Cyclical Vomiting Syndrome in Individuals With BPTF Haploinsufficiency.

Cyclical Vomiting Syndrome in Individuals With BPTF Haploinsufficiency.

Journal: Pediatric neurology

Published: December 08, 2024

Pathogenic UNC13A variants cause a neurodevelopmental syndrome by impairing synaptic function.

Pathogenic UNC13A variants cause a neurodevelopmental syndrome by impairing synaptic function.

Journal: Nature genetics

Published: June 16, 2024

Clinical and genetic delineation of autosomal recessive and dominant ACTL6B-related developmental brain disorders.

Clinical and genetic delineation of autosomal recessive and dominant ACTL6B-related developmental brain disorders.

Journal: Genetics in medicine : official journal of the American College of Medical Genetics

Published: December 07, 2023

PSMD11 loss-of-function variants correlate with a neurobehavioral phenotype, obesity, and increased interferon response.

PSMD11 loss-of-function variants correlate with a neurobehavioral phenotype, obesity, and increased interferon response.

Journal: American journal of human genetics

Published: November 01, 2023

Epilepsy as a Novel Phenotype of BPTF-Related Disorders.

Epilepsy as a Novel Phenotype of BPTF-Related Disorders.

Journal: Pediatric neurology

Published: September 20, 2023

Showing 1-12 of 28

Last Updated: 09/26/2026