Ellen Van Beusekom

Nijmegen, GE, Netherlands

Last Updated: 09/26/2026

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Found 23 publications

Biallelic rescue of CTG18.1 in two Fuchs endothelial corneal dystrophy-derived iPSC lines (SCTCi047-A-2, SCTCi046-A-2) following a two-step gene editing strategy.

Biallelic rescue of CTG18.1 in two Fuchs endothelial corneal dystrophy-derived iPSC lines (SCTCi047-A-2, SCTCi046-A-2) following a two-step gene editing strategy.

Journal: Stem cell research

Published: April 03, 2026

Human neuronal networks on micro-electrode arrays as a tool to assess genotype-phenotype correlation in CACNA1A-related disorders.

Human neuronal networks on micro-electrode arrays as a tool to assess genotype-phenotype correlation in CACNA1A-related disorders.

Journal: Stem cell reports

Published: June 17, 2025

Genetic Inactivation of the Serotonin Transporter Dysregulates Expression of Neurotransmission Genes and Genome-Wide DNA Methylation Levels in the Medial Prefrontal Cortex of Male Rats During Postnatal Development.

Genetic Inactivation of the Serotonin Transporter Dysregulates Expression of Neurotransmission Genes and Genome-Wide DNA Methylation Levels in the Medial Prefrontal Cortex of Male Rats During Postnatal Development.

Journal: Developmental neurobiology

Published: March 22, 2025

Generation of induced pluripotent stem cell lines from two unrelated patients affected by intellectual disability carrying homozygous variants in SGIP1.

Generation of induced pluripotent stem cell lines from two unrelated patients affected by intellectual disability carrying homozygous variants in SGIP1.

Journal: Stem cell research

Published: April 08, 2024

Generation of induced pluripotent stem cell line (UCSFi001-A-77) carrying a biallelic frameshift variant in exon 4 of SGIP1 through CRISPR/Cas9.

Generation of induced pluripotent stem cell line (UCSFi001-A-77) carrying a biallelic frameshift variant in exon 4 of SGIP1 through CRISPR/Cas9.

Journal: Stem cell research

Published: April 08, 2024

CACNA1A haploinsufficiency leads to reduced synaptic function and increased intrinsic excitability.

CACNA1A haploinsufficiency leads to reduced synaptic function and increased intrinsic excitability.

Journal: Brain : a journal of neurology

Published: February 16, 2024

A complex structural variant near SOX3 causes X-linked split-hand/foot malformation.

A complex structural variant near SOX3 causes X-linked split-hand/foot malformation.

Journal: HGG advances

Published: December 13, 2022

Phenotypic and mutational spectrum of ROR2-related Robinow syndrome.

Phenotypic and mutational spectrum of ROR2-related Robinow syndrome.

Journal: Human mutation

Published: June 24, 2021

Homozygous Missense Variants in NTNG2, Encoding a Presynaptic Netrin-G2 Adhesion Protein, Lead to a Distinct Neurodevelopmental Disorder.

Homozygous Missense Variants in NTNG2, Encoding a Presynaptic Netrin-G2 Adhesion Protein, Lead to a Distinct Neurodevelopmental Disorder.

Journal: American journal of human genetics

Published: June 17, 2019

Cytidine Diphosphate-Ribitol Analysis for Diagnostics and Treatment Monitoring of Cytidine Diphosphate-l-Ribitol Pyrophosphorylase A Muscular Dystrophy.

Cytidine Diphosphate-Ribitol Analysis for Diagnostics and Treatment Monitoring of Cytidine Diphosphate-l-Ribitol Pyrophosphorylase A Muscular Dystrophy.

Journal: Clinical chemistry

Published: April 09, 2019

Correction: Exome sequencing of Pakistani consanguineous families identifies 30 novel candidate genes for recessive intellectual disability.

Correction: Exome sequencing of Pakistani consanguineous families identifies 30 novel candidate genes for recessive intellectual disability.

Journal: Molecular psychiatry

Published: September 02, 2018

Deletions and loss-of-function variants in TP63 associated with orofacial clefting.

Deletions and loss-of-function variants in TP63 associated with orofacial clefting.

Journal: European journal of human genetics : EJHG

Published: July 29, 2018

Showing 1-12 of 23

Last Updated: 09/26/2026