Guy Armand Rouleau

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 characterizes the genetic and clinical features of hereditary spastic paraplegia (HSP) in a Canadian cohort, identifying common genetic causes and phenotypic variability.

The paper analyzes EEG data from 4,812 individuals to identify shared and distinct neurophysiological signatures across psychiatric conditions and rare genetic variants.

The paper investigates the genetic role of SLC25A46 in Parkinson's disease, REM sleep behavior disorder, and Dementia with Lewy Bodies, finding no significant associations.

An open, instruction-free EEG plus eye-tracking task battery for autism families (344 to 587 participants per task so far), with timing-validated integrated recordings that enable gaze-locked ERP analysis.

This study identifies biomarkers in the neuronal secretome of bipolar disorder patients that correlate with disease state and lithium response, revealing their impact on neuronal network function.

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.

The paper constructs a genetic reference panel for the Quebec population using whole-genome sequencing and GWAS to improve phenotype-genotype association discovery.

The paper investigates five BRIP1/FANCJ variants for their clinical relevance in breast and ovarian cancer, finding three likely damaging variants associated with cellular sensitivity to chemotherapy drugs.

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.

This study identifies distinct rare de novo coding variants associated with Tourette Syndrome, highlighting loss-of-function mutations and novel candidate genes.

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

The paper investigates genetic and causal links between post-traumatic stress disorder and rapid-eye-movement sleep behavior disorder using polygenic risk scores, genetic correlation, and Mendelian randomization analyses.

The paper develops predictive models for intellectual disability in autistic children by integrating genetic variants and developmental milestones, achieving an AUC ROC of 0.65 and identifying 10% of ID cases.

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

The paper introduces the Neurodegenerative Disease Knowledge Portal (NDKP), an open-science platform aggregating genomic datasets for neurodegenerative diseases to enable collaborative analysis and discovery.

The paper investigates oligogenic risk in ALS using genome sequencing data, finding that multiple rare variants in known ALS genes increase disease risk but not clinical outcomes.

The paper investigates genetic interactions between SNCA and APOE in synucleinopathies using GWAS data and finds no significant epistatic interactions after multiple testing correction.

Segpy is a user-friendly pipeline for variant segregation analysis that supports single-family, multi-family, and population-based datasets to evaluate genetic variant co-segregation with disease.

The paper describes how multidisciplinary VUS Rounds help classify and manage variants of uncertain significance in neurogenetics patients.

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 identifies molecular signatures of neuronal hyperexcitability and lithium responsiveness in bipolar disorder neurons, suggesting new therapeutic strategies targeting Akt and AMPK pathways.