Fernando Rivadeneira

The genetic architecture of trabecular bone score and association with fracture: a genome-wide association and meta-analysis

This study identifies 33 genetic variants associated with trabecular bone score (TBS) and finds a potential causal link between TBS and fracture risk independent of bone mineral density.

Genetic Nurture: Estimating the direct genetic effects of pediatric anthropometric traits

This study estimates direct and indirect genetic effects on pediatric anthropometric traits in a Dutch cohort, finding significant direct effects but limited indirect genetic nurture influence.

Exome analysis of 22,319 individuals links extremely rare CNVs and 22q11.21 dosage to Alzheimer's risk

The paper analyzes exome data from 22,319 individuals to identify rare CNVs and 22q11.21 dosage as risk factors for Alzheimer's disease.

Genome-wide association study of placental weight in 179,025 children and parents reveals distinct and shared genetic influences between placental and fetal growth

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.

Domain mapping of disease mutations supports genetic testing of specific SORL1 variants in Alzheimer's Disease

The paper identifies high-priority missense variants in SORL1 associated with increased Alzheimer's Disease risk and earlier onset, suggesting clinical counseling considerations for carriers.

Exome sequencing identifies rare damaging variants in ATP8B4 and ABCA1 as novel risk factors for Alzheimers Disease

The paper identifies rare damaging variants in ATP8B4 and ABCA1 as novel risk factors for Alzheimer's Disease using exome sequencing data from 32,558 individuals.

Genome Wide Association Metanalysis Of Skull Bone Mineral Density Identifies Loci Relevant For Osteoporosis And Craniosynostosis

This study identifies 59 genome-wide significant loci for skull bone mineral density, including four novel loci, and links them to osteoporosis and craniofacial developmental defects.

Genomic and phenomic insights from an atlas of genetic effects on DNA methylation

The paper identifies genetic variants influencing DNA methylation in blood and shows their associations with complex traits and diseases, but finds limited direct causality.

Osteocyte Transcriptome Mapping Identifies a Molecular Landscape Controlling Skeletal Homeostasis and Susceptibility to Skeletal Disease

The paper maps the osteocyte transcriptome in mice, identifies 1239 genes, and links them to skeletal disease susceptibility in humans.

Genome-wide meta-analysis of muscle weakness identifies 15 susceptibility loci in older men and women

This study identifies 15 genetic loci associated with muscle weakness in older adults through a large meta-analysis, revealing new pathways linked to aging and health outcomes.

Genetic analysis of mitochondrial DNA copy number and associated traits identifies loci implicated in nucleotide metabolism, platelet activation, and megakaryocyte proliferation, and reveals a causal association of mitochondrial function with mortality

This study identifies 100 loci associated with mitochondrial DNA copy number and finds causal links between mitochondrial function and mortality.

Large-scale association analyses identify host factors influencing human gut microbiome composition

The paper identifies 31 host genetic loci influencing gut microbiome composition through GWAS and suggests causal effects in inflammatory diseases.

Genetic loci associated with prevalent and incident myocardial infarction and coronary heart disease in the Cohorts for Heart and Aging Research in Genomic Epidemiology (CHARGE) Consortium

This study identifies new genetic loci associated with myocardial infarction and coronary heart disease using genome-wide association analyses across multiple cohorts.

Genome-wide association study identifies 48 common genetic variants associated with handedness.

This study identifies 48 genetic variants associated with handedness using a large GWAS, highlighting polygenic nature and genetic links to neuropsychiatric traits.

Genomic analysis of diet composition finds novel loci and associations with health and lifestyle

This study identifies genetic loci associated with macronutrient intake and links them to health outcomes using GWAS in over 235,000 individuals.

Low-frequency variation in TP53 has large effects on head circumference and intracranial volume

The paper identifies 9 novel genetic loci, including low-frequency variants in TP53, associated with head circumference and intracranial volume in up to 46,000 individuals.

An Atlas of Human and Murine Genetic Influences on Osteoporosis

This paper identifies 518 genetic loci associated with bone mineral density and fracture risk, validates causal genes in mice, and provides insights for osteoporosis drug development.

Integrated Clinical and Omics Approach to Rare Diseases: Novel Genes and Oligogenic Inheritance in Holoprosencephaly

This study identifies novel HPE genes and oligogenic inheritance patterns in holoprosencephaly by integrating clinical data with exome sequencing and gene prioritization.

Variants in the fetal genome near pro-inflammatory cytokine genes on 2q13 are associated with gestational duration

This study identifies a fetal genome-wide association signal near pro-inflammatory cytokine genes on 2q13 linked to gestational duration and preterm/postterm birth.

Machine Learning to Predict Osteoporotic Fracture Risk from Genotypes

This paper uses machine learning to predict osteoporotic fracture risk from genotypes, finding that genomic predictions outperform clinical risk factors in identifying fracture risk.

Consortium genome-wide meta-analysis for childhood dental caries traits

This paper conducts a consortium-wide GWAS to identify genetic variants associated with childhood dental caries, finding two significant loci but low heritability estimates.

Maternal and fetal genetic contribution to gestational weight gain

This study investigates the genetic contributions to gestational weight gain, finding that maternal common variants explain about 20% of variability, while fetal variants have a minor role.

Genetic architecture of early childhood growth phenotypes gives insights into their link with later obesity

This study identifies genetic loci associated with early childhood growth phenotypes and links them to later adiposity traits, suggesting potential targets for obesity prevention.

Cell specific eQTL analysis without sorting cells

The paper introduces a method for cell-specific eQTL analysis without cell sorting, showing that Crohn's disease-associated SNPs mainly affect neutrophil gene expression in whole blood data.