Han G. Brunner

The paper shows inherited protein-truncating variants contribute to developmental disorders through partial gene expression loss, affecting ~20% of children with such variants.

The paper examines reproductive and cognitive effects in carriers of recessive pathogenic variants using UK Biobank data, finding fitness effects and reduced cognition in carriers of intellectual disability-associated genes.

The paper reanalyzes exome sequencing data from rare disease cases to identify previously undetected copy number variants, resulting in diagnoses for 51 families and partial explanations for 34 individuals.

This paper introduces a whole genome sequencing-based haplarithmisis method for preimplantation genetic testing, improving coverage, reducing artifacts, and enabling new applications like trio-based aneuploidy detection.

The paper uses HiFi long-read sequencing to identify genetic variants in undiagnosed rare disease families, finding novel diagnoses in 13% of cases and candidate variants in 4.3%.

The paper describes a unified data infrastructure for rare disease research, enabling collaborative analysis of multi-omics data across institutions.

This study evaluates genome sequencing as a primary diagnostic tool for rare diseases, finding it can detect 95% of clinically relevant variants with a 0.3% false negative rate.

The paper identifies function-altering de novo mutations in neurodevelopmental disorders by analyzing mutational hotspots across homologous protein domains.

The paper identifies six rare de novo missense variants in WDR5 associated with neurodevelopmental disorders and highlights their impact on COMPASS family protein interactions.

The paper shows inherited CHD3 variants cause Snijders Blok-Campeau syndrome with variable expressivity, overlapping with de novo variants' phenotypes, and suggests reduced penetrance is not due to expression compensation.

This paper develops a targeted RNAseq approach to detect pathogenic RNA splicing variants in NF1, identifying novel splicing events and confirming splice variants in patients with NF1 symptoms.

The paper shows that in individuals with obesity, mutation-driven haematopoietic clones grow faster with insulin resistance and low HDL-C, which are cardiovascular risk factors.

The paper estimates carrier rates and risk of severe autosomal recessive disorders in European populations using exome sequences.

The paper identifies mutation-specific pathophysiological mechanisms in SATB1 variants causing distinct neurodevelopmental disorders.

This study shows that MAOA dysfunction in Brunner syndrome leads to increased NMDAR activity and neuronal network hyperactivity in dopaminergic neurons.

The paper integrates healthcare and research exome sequences to identify 28 novel developmental disorder-associated genes using a simulation-based statistical test.

This study identifies ADHD risk genes by linking ID-related genes to ADHD through common variants and validates their role in Drosophila behavior.

The paper identifies 299 new genes associated with developmental disorders using exome data from 31,058 trios and finds many more likely remain undiscovered.

This study investigates MAOA dysfunction in Brunner Syndrome using iPSC-derived dopaminergic neurons, finding increased NMDA receptor expression and network activity.

The paper identifies de novo epigenetic variations in congenital disorders and shows their impact on gene expression and potential diagnostic relevance.

This study identifies 10 novel candidate genes for intellectual disability through a meta-analysis of de novo mutations from 2,104 trios.