Marc Vaudel

This study identifies genetic loci associated with childhood eating behaviour and shows they mediate obesity risk through distinct pathways, primarily driven by the child's own genotype.

The paper examines proteomic changes caused by MODY mutations in HNF1A and HNF1B using cell line models, finding suppressed energy metabolism and interferon signaling.

FEMA-Long enables efficient modeling of time-dependent effects in longitudinal data, discovering genetic variants with time-dependent effects on infant growth traits.

The paper conducts a multi-ancestry, trans-generational GWAS meta-analysis of gestational diabetes and glycemic traits, identifying novel loci and highlighting limited pregnancy-specific genetic effects.

This study identifies genetic and proteomic factors influencing pediatric stature across life stages and links them to adult height and type 2 diabetes risk.

The paper infers parent-of-origin effects in ~265,000 individuals using a novel method, identifying over 30 novel POEs and confirming known associations, supporting the parental conflict hypothesis.

The paper investigates how nulliparity affects maternal genetic effects on gestational duration and birth weight using GWAS data from a large cohort.

This study performs a genome-wide association study for Long COVID, identifying a significant association with the FOXP4 locus and highlighting the role of pulmonary dysfunction and COVID-19 severity.

The paper identifies rare, large, high-penetrance CNVs in Norwegian pediatric diabetes and MODY patients, finding 0.63% and 0.09% of cases attributable to pathogenic deletions, with some undetected by standard methods.

This paper presents a scalable and automated pipeline for analyzing rare copy number variants in case-control studies using SNP array data, enabling efficient CNV detection, quality control, and impact assessment.

This study identifies a genome-wide association for neonatal jaundice, revealing distinct genetic pathways compared to adult bilirubin metabolism.

This study identifies genetic signals associated with age at menarche, highlights genes involved in pubertal development, and links reproductive timing to later life disease risk.

This paper uses Mendelian randomization to estimate the causal effect of smoking during pregnancy on placental weight, finding that continued smoking increases placental weight.

ProHap constructs protein sequence databases from phased genotypes to account for haplotypic diversity in proteomic searches.

This study identifies 40 genetic loci associated with placental weight using GWAS in 179,025 children and parents, revealing shared and distinct genetic influences with fetal growth.

This study extends protein interaction networks by incorporating small molecules, protein isoforms, and post-translational modifications to better represent biological systems.

This study identifies genetic loci associated with gestational duration and preterm delivery, showing maternal and fetal genetic effects and antagonistic pleiotropy with birth weight.

This study improves variant peptide identification in proteomics by integrating retention time and fragmentation predictors into a proteogenomic pipeline, enhancing discrimination between correct and incorrect matches.

This paper develops an automated pipeline to collect, unify, and translate genetic variants associated with monogenic diabetes into protein sequences, creating a database for proteomics and structural biology analysis.

The paper investigates how common genetic haplotypes affect proteomic search results and identifies multi-variant peptides detectable by mass spectrometry.

This study identifies 46 BMI loci in children aged 0-8 years, revealing age-specific effects and pathways linked to Mendelian obesity.

The paper introduces a standardized metadata format for proteomics datasets to improve reusability and integration across public repositories.

The paper optimizes run of homozygosity (ROH) calling in parent-offspring trios to study the effect of autozygosity on delivery timing, finding three maternal loci associated with reduced time-to-spontaneous delivery.

This study identifies five BMI-associated loci across 12 time points in children, highlighting transient effects of common genetic variation in the leptin signaling pathway during infancy.

PathwayMatcher maps omics data to pathway networks considering protein isoforms and modifications, enabling more precise pathway analysis.

This study identifies genetic effects on birth weight and their impact on cardio-metabolic traits, distinguishing fetal and maternal contributions.

This study examines the structure of pathway knowledgebases like Reactome and its impact on interpreting biomedical datasets, aiming to improve user understanding and result reliability.

This study identifies maternal genetic variants associated with offspring birth weight using GWAS and SEM, showing independent effects from fetal genetics.