Alexandre Reymond

The paper identifies rare variants in CSMD2 associated with neurodevelopmental disorders, showing both recessive and dominant inheritance patterns and functional impairments.

The paper investigates BLTP1's role in neocortical lamination by analyzing patients and mouse models, finding lipid transport defects cause structural brain abnormalities.

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The paper examines how modifier variants affect clinical outcomes in individuals with primary disease variants, showing context-dependent phenotypic associations and synergistic interactions.

The paper investigates how polygenic scores and copy-number variants interact, finding that assortative mating explains their positive correlation and contributes to genetic risk compounding.

The paper identifies pleiotropic effects of 16p11.2 BP4-5 CNVs on 46 phenotypes, showing BMI-dependent and indirect associations through mediation and Mendelian randomization.

The paper investigates the role of mitochondrial DNA repeats in aging and healthspan, finding that disrupting the common repeat reduces somatic deletions and improves healthspan.

The paper identifies variant-specific effects of AFF3 on transcriptome profiles through analysis of patient cohorts and zebrafish models, showing distinct pathophysiological mechanisms for different types of AFF3 variants.

This study identifies 73 CNV-related disease signals in 331,522 UK Biobank participants, showing CNVs increase disease risk and earlier onset, with polygenic effects and gene dosage impacts.

The paper identifies a contact zone in the human mitochondrial genome where deletions are more likely, linking it to aging and lifespan.

The paper develops a multi-omics Mendelian randomization framework to identify transcript-metabolite-trait causal triplets and shows it outperforms classical transcriptome-wide MR by integrating multiple omics layers.

The paper identifies ZMYM3 variants in 22 individuals with neurodevelopmental delay, showing recurrent mutations, phenotypic overlap, and functional effects, supporting ZMYM3 as a novel NDD gene.

This study identifies 114 genome-wide significant rare CNV-disease associations across 30 neurological disorders, revealing 38 novel triplosensitive genes and developing a model to predict dosage sensitivity.

This study identifies 131 CNV signals associated with 47 complex traits in the UK Biobank, revealing new gene functions and linking CNVs to decreased longevity and health outcomes.

The paper identifies multiple genes at the 16p11.2 locus contributing to brain size and neuroanatomical phenotypes in mice, with MVP as a key driver, and shows its interaction with ERK in regulating brain morphology and behavior.

The paper identifies an AH>GH substitution signature in mtDNA linked to aging and TSSS, showing higher frequency in species with longer generation lengths.

The paper identifies biallelic truncation variants in ATP9A as a cause of a novel autosomal recessive neurodevelopmental disorder in two consanguineous families.

This paper introduces revTWMR, a method to determine causal relationships between gene expression and complex traits, finding that traits more strongly influence gene expression than vice versa.

The paper reports a de novo alpha satellite DNA insertion near an ancestral centromere, showing it lacks centromeric functionality and does not disrupt genes or methylation.

The paper investigates mtDNA mutational spectra across species and tissues, finding a correlation between AH>GH substitutions and longevity, suggesting it as a potential oxidative damage signature in mtDNA.

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

The paper analyzes chromoanagenesis breakpoints in constitutional and cancer cases, finding enrichment in late-replicating chromatin and suggesting similar mechanisms for both.

The paper investigates sex-specific cis-eQTLs in whole blood RNA-seq data and finds they do not systematically translate into detectable sex-specific trait associations due to limited power and compensatory effects.

The paper investigates how BOLA2 duplication in chromosome 16p11.2 affects iron homeostasis and anemia risk in autism patients, finding associations with anemia and iron deficiency.

The paper identifies ASPHD1 as a key driver of reproductive traits in the 16p11.2 locus using biobank data, Mendelian randomization, and animal models.

The paper identifies degron variants in AFF3 causing a multi-system disorder with specific clinical features and demonstrates phenotypic overlap with AFF4-related syndromes.

The paper combines regulatory element activity, gene expression, and genetic variation data across cell types to show how chromatin structure influences regulatory networks and genetic effects.

The paper shows that rare secondary mutations in functionally intolerant genes affect the expressivity of neurodevelopmental disorders in individuals with primary mutations.