Jennifer Gladys Mulle

This study identifies dysregulated synaptic microRNAs in 22q11DS neurons that drive aberrant glutamatergic transmission and synaptic plasticity, linking genetic deletion to psychosis risk.

This study shows that 3q29Del mice exhibit reduced cerebellar volume, motor and vocal impairments, and mitochondrial dysfunction, mirroring human 3q29Del phenotypes.

This study identifies genetic maps of human sulcal complexity using rare and common variants, revealing new mechanistic pathways for cortical morphogenesis.

The paper investigates XCI erosion in CRISPR-edited female iPSCs and their derived neurons, showing variable erosion in iPSCs and preserved XIST effects on gene expression in neurons.

The paper investigates how neurodevelopmental disorder-associated variants affect mitochondrial proteins and finds convergent effects on mitochondrial translation in two high-risk CNVs.

The paper develops a pipeline for efficient loss-of-function mutagenesis in NPD genes using base editing in hiPSCs, achieving high reproducibility and confirming neural phenotypes.

This study describes musculoskeletal phenotypes in 3q29 deletion syndrome, finding high prevalence of congenital anomalies and bone fractures.

This study uses cross-species scRNA-seq to show that the 3q29 deletion causes mitochondrial dysfunction in both human cortical organoids and mouse models, suggesting a conserved metabolic disruption in schizophrenia.

This study examines visual-motor integration deficits in 3q29 deletion syndrome, finding significant gender differences and associations with ADHD and cognitive ability.

The paper investigates the 3q29 genomic region, identifying novel haplotypes and breakpoint segments associated with deletion and duplication syndromes, and categorizes cases into distinct classes.

This study evaluates clinical features of autism spectrum disorder in individuals with 3q29 deletion syndrome using standardized assessments, finding increased social disability in those without ASD and preserved social communication in those with ASD.

The paper identifies OTUD7A loss-of-function mutations in schizophrenia-associated 15q13.3 deletions and shows they impair synapse development and function in human neurons.

This study evaluates cognitive profiles in individuals with 3q29 deletion syndrome, finding verbal ability strengths and associations with intellectual disability and adaptive behavior.

The paper evaluates feeding disorder symptoms in individuals with 3q29 deletion syndrome using a survey, finding higher incidence of feeding concerns compared to controls.

This study explores caregiver experiences and concerns following a diagnosis of 3q29 deletion syndrome, highlighting gaps in communication about future psychosis risk.

This study investigates the molecular effects of the 3q29 deletion on the human neural transcriptome, identifying convergent and distributed impacts across gene clusters and pathways related to psychiatric disorders.

The paper shows that sex-specific differences in meiotic recombination rates are associated with parental origin biases in recurrent genomic disorders.

This study identifies a recognizable craniofacial phenotype in 3q29 deletion syndrome using 2D facial photos and machine learning to distinguish cases from controls.

This study evaluates 32 individuals with 3q29 deletion syndrome to identify common medical and neurodevelopmental features and provides clinical care recommendations.

This study shows that the 3q29 deletion causes sex-specific metabolic changes in mice, which are not linked to behavioral issues, and that a high-fat diet can improve weight in females without worsening behavior.

This study systematically describes 3q29 duplication syndrome using a registry cohort, identifying common early-life issues and social disability features similar to the reciprocal deletion syndrome.

This study examines neuropsychiatric phenotypes in individuals with 3q29 deletion syndrome, finding higher ASD prevalence, especially in females, and distinct ASD features compared to idiopathic ASD.

This paper introduces a method to improve genetic association testing for psychiatric symptoms by analyzing multivariate questionnaire data instead of collapsing it into a single score, showing increased power and efficiency.

This study creates a CRISPR-engineered mouse model of the 3q29 deletion, showing behavioral and growth deficits, and demonstrates that these effects are not solely due to Dlg1 haploinsufficiency.

This study investigates the association between copy number variants on chromosome 21 and congenital heart defects in Down syndrome, finding no direct link but suggesting ethnic differences in CNV patterns.