Marianne B. M. van den Bree

The paper identifies reduced p70S6K levels in PBMCs of individuals with 16p11.2 deletion and duplication syndromes, correlating with autistic symptom severity.

The paper investigates whether common genetic variants contribute to neurodevelopmental risks in children with cleft lip/palate, finding no strong genetic correlation with psychiatric traits but noting independent clinical relevance of polygenic risk scores.

The paper examines how gene dosage, polygenic background, and environment influence complex traits like height and BMI using large-scale data from multiple cohorts.

The paper investigates the association between neurodevelopmental copy number variants (ND-CNVs) and increased risk of internalising and cardiometabolic multimorbidity using UK Biobank data.

The paper uses human iPSC-derived medium spiny neurons to show that 16p11.2 CNVs alter striatal neurogenesis and bias toward direct pathway neurons, linking these changes to neurodevelopmental disorders.

This study examines irritability in young people with neurodevelopmental copy number variants (ND-CNVs) and finds it is more common than in controls, independent of psychiatric diagnoses or IQ.

The paper investigates how rare genetic mutations affect brain asymmetry by analyzing CNVs in a cohort of individuals and linking genetic alterations to brain structure and function.

The paper identifies chromatin regulatory genes as genetic modifiers of conotruncal heart defects in 22q11.2 deletion syndrome and links them to sporadic congenital heart disease.

The paper investigates how eight rare CNVs affect brain structure and phenotypes across 534 carriers, finding structural divergence and phenotypic convergence despite different genetic origins.

This study investigates the effects of 1q21.1 deletion and duplication on neuronal development using induced pluripotent stem cells and shows reciprocal phenotypes and potential therapeutic targets.

The paper examines how rare and common genomic variants affect brain functional connectivity, revealing how polygenicity and pleiotropy influence psychiatric conditions and brain networks.

Neuropsychiatric CNVs reorganize brain connectivity along shared patterns linked to cognitive traits and disorder severity.

The paper shows that reduced EHMT1 activity decreases NRSF/REST protein, leading to abnormal neuronal gene expression and neurodevelopmental issues in human iPSCs.

This study investigates electrophysiological network changes in adults with neurodevelopmental risk copy number variants using MEG, finding decreased connectivity and network segregation differences.

The paper examines the effects of neuropsychiatric CNVs on brain structure using neuroimaging data and identifies shared anatomical patterns across multiple CNVs.

This study examines motor coordination difficulties in children with high-risk Copy Number Variants (CNVs) and finds a strong association with psychopathology and lower IQ.

The paper examines parents' experiences with genetic counseling for children with rare genomic disorders, finding dissatisfaction with current services and reliance on non-professional sources for psychiatric information.

This study examines genotype-phenotype relationships in children with copy number variants (CNVs) associated with high neuropsychiatric risk, finding similar adverse effects across different CNVs with some qualitative differences.

The paper investigates how genetic risk for schizophrenia and developmental delay relates to structural brain abnormalities in midline white matter.

This study evaluates parental satisfaction with genetic counseling and information about psychiatric risks in children with rare disorders, finding dissatisfaction with communication and reliance on non-professional sources for information.

This study examines phenotypic and genetic characteristics of adults diagnosed with ASD, finding high psychiatric comorbidity and increased polygenic risk for common ASD variants.