Patrick A. Dion

This study conducts ancestry-specific and multi-ancestry GWAS of restless legs syndrome, identifying shared and ancestry-specific risk loci across African, Latin American, and European populations.

This study investigates the genetic basis of essential tremor and its comorbidities using Mendelian Randomization, gene enrichment, and structural equation modeling, finding limited genetic overlap and variance explained.

This study identifies digenic inheritance of SPG7 and AFG3L2 mutations as a cause of motor neuron and cerebellar disorders in 17 patients.

This study identifies rare copy number duplications in protein coding regions as risk factors for essential tremor, but does not reliably identify specific susceptibility genes.

This study compares brain maps and polygenic risk scores for Essential Tremor and related phenotypes to assess genetic overlap and diagnostic precision.

The paper investigates whether CPT1C loss-of-function variants cause hereditary spastic paraplegia (HSP) by analyzing genomic data from multiple cohorts and finds no causal association.

This paper identifies risk proteins for intracranial aneurysms using multi-ancestry proteogenomic analysis and finds ADH4 and PLEKHA1 as non-blood pressure-mediated candidates.

The paper establishes a validated antibody platform for ALS research, identifying high-quality antibodies and revealing protein expression patterns in neurological cell types.

This study shows lithium partially rescues transcriptomic and epigenomic changes in AKAP11 heterozygous knockout neurons, suggesting potential therapeutic relevance for bipolar disorder and schizophrenia.

This paper shows C9orf72 expansions create a folate-sensitive fragile site FRA9A, leading to chromosomal instability and immune responses in patient cells and mice.

This study identifies de novo variants in childhood-onset OCD in a French-Canadian cohort, finding overlaps with related disorders and suggesting biological mechanisms.

This study identifies nine risk loci and two additional risk genes for restless legs syndrome through genome-wide association and transcriptome-wide analysis.

The paper constructs a single-cell eQTL atlas of the human cerebellum and identifies ET-associated variants linked to BACE2 downregulation in oligodendrocytes, suggesting demyelination and dysfunctional interactions.

The paper introduces a method to compress genetic data using autoencoders that leverage linkage disequilibrium structure, achieving high reconstruction accuracy while reducing data size.

This study shows that rare CNVs and PRS-IQ increase ASD risk independently of their effects on cognitive ability, suggesting ASD risk and cognitive ability are distinct outcomes of these variants.

This study investigates transcriptomic and epigenomic changes in human neurons with heterozygous AKAP11 loss-of-function mutations, revealing dysregulation of enhancers and gene networks linked to bipolar disorder and schizophrenia.

The paper introduces a multi-polygenic risk score approach to study ASD's genetic architecture, finding that multi-PRSs capture similar risk as traditional PRS-ASD but reveal developmental mirroring effects.

The paper identifies novel autism risk genes by analyzing convergent coexpression patterns in brain samples, showing these genes may not be detected by sequencing studies.

The paper shows that spinal cord extracts from sporadic ALS patients induce and spread TDP-43 pathology in human cerebral organoids, mimicking ALS pathophysiology.

This study analyzes rare and common variants in ALS using French-Canadian data, finding that PRS and rare variants independently affect risk but do not interact significantly.

The paper investigates the association between STMN2 CA repeats and ALS risk using whole genome sequencing data and finds no significant association.

This study identifies convergent transcriptomic targets of propranolol and primidone in essential tremor, highlighting potential biomarkers and molecular mechanisms for drug response.

This study shows chronic lithium treatment reduces neuronal excitability and shifts the excitatory/inhibitory balance toward inhibition in mouse cortical neurons.

The paper investigates the inheritance pattern of SPG7 variants in hereditary spastic paraplegia, finding evidence of non-Mendelian inheritance including heterozygous variants and digenic/epistatic interactions.

This study overexpresses STK32B in human cerebellar cells and identifies differentially expressed genes and pathways potentially relevant to essential tremor.

This study identifies nine genetic loci associated with age at onset in Machado-Joseph disease, suggesting roles for DNA repair and synaptic pathways in disease progression.

The paper investigates RFC1 repeat expansions in ataxia cohorts, identifying novel repeat conformations and their potential pathogenicity.

The paper identifies increased FLT3 expression in the dorsolateral prefrontal cortex as associated with Tourette Syndrome through transcriptome-wide association study.

This study performs a transcriptome-wide association study (TWAS) of ADHD, identifying 9 significant hits and linking them to dopaminergic and norepinephrine pathways, as well as several phenotypes.

This study performs a transcriptome-wide association study on 373,733 individuals to identify genes associated with miserableness, finding 104 signals across brain tissue panels and prioritizing 95 genes into credible sets.