Clara van Karnebeek

Navigating Human Astrocyte Differentiation: Direct and Rapid one-step Differentiation of Induced Pluripotent Stem Cells to Functional Astrocytes Supporting Neuronal Network development

This study presents a one-step protocol to differentiate hiPSCs into functional astrocytes, enabling co-culture with neurons to support network development.

Dissecting the sources of variation in neuronally differentiated iPSC lines through multi-omics analysis

The paper identifies major sources of variability in iPSC-derived neurons and shows how correcting these improves disease signature detection.

KG-Bench: Benchmarking Graph Neural Network Algorithms for Drug Repurposing

KG-Bench benchmarks graph neural networks for drug repurposing using the Open Targets dataset, finding TransformerConv achieves the highest performance.

Increased ambient temperature mitigates pathology in the Ndufs4-/- mouse model of Leigh Syndrome

This study shows that raising ambient temperature in Ndufs4-/- mice improves their health outcomes, including longer lifespan and reduced pathology.

Targeting AASS improves neurotoxicity and mitochondrial function in astrocyte models for pyridoxine dependent epilepsy

This study shows that targeting AASS in astrocytes reduces neurotoxicity and improves mitochondrial function in a model of pyridoxine-dependent epilepsy.

Complexome profiling showed impaired immunoproteasome assembly in a novel PRAAS subtype caused by monoallelic PSMB8 variants

The paper identifies monoallelic PSMB8 variants causing impaired immunoproteasome assembly and a novel PRAAS subtype with immunodeficiency.

A germline heterozygous dominant negative IKZF2 variant causing syndromic primary immune regulatory disorder and ICHAD

The paper describes a germline variant in IKZF2 causing immune dysregulation, including AIHA and atopic dermatitis, and reports single-cell RNA sequencing findings on T cell dysfunction.

Mutations in the U2 snRNA gene RNU2-2P cause a severe neurodevelopmental disorder with prominent epilepsy

The paper identifies recurrent mutations in the RNU2-2P gene, which encodes U2 snRNA, as a cause of a severe neurodevelopmental disorder with prominent epilepsy.

All three MutL complexes are required for repeat expansion in a human stem cell model of CAG-repeat expansion mediated glutaminase deficiency.

Human Germline Heterozygous Gain-of-Function STAT6 Variants Cause Severe Allergic Disease

This study identifies heterozygous gain-of-function STAT6 variants in two patients with severe allergic disease and shows JAK inhibitors reduce the enhanced STAT6 responses.

Genome-Wide Sequencing as a First-Tier Screening Test for Short Tandem Repeat Expansions

The paper evaluates STR detection tools and develops a pipeline to identify pathogenic expansions in exome/genome data, finding 27 samples with STR mutations in 306 families.

Identification of novel biomarkers for pyridoxine-dependent epilepsy using untargeted metabolomics and infrared ion spectroscopy - biochemical insights and clinical implications

The paper identifies novel biomarkers for pyridoxine-dependent epilepsy using metabolomics and infrared ion spectroscopy, showing their potential for newborn screening and clinical implications.

A human multisystem disorder with autoinflammation, leukoencephalopathy and hepatopathy is caused by mutations in C2orf69

The paper identifies mutations in the C2orf69 gene as the cause of a human multisystem disorder characterized by autoinflammation, leukoencephalopathy, and hepatopathy.

metPropagate: network-guided propagation of metabolomic information for prioritization of neurometabolic disease genes

metPropagate uses metabolomics data to prioritize candidate genes for neurometabolic diseases, achieving high accuracy in identifying causative genes for both known and novel IEMs.

Multi-omic approach to identify phenotypic modifiers underlying cerebral demyelination in X-linked adrenoleukodystrophy

This study uses multi-omic profiling of blood samples from ALD patients to identify molecular markers predictive of cerebral demyelination, but finds no statistically significant markers due to high inter-individual variation.

Diagnostic Yield And Treatment Impact Of Targeted Exome Sequencing In Early-Onset Epilepsy

This study evaluates the diagnostic yield and treatment impact of targeted whole-exome sequencing in early-onset epilepsy, finding a 34% diagnostic rate with faster diagnosis and cost savings when used early.