Area of research
Genetics · Orthopedics and Sports Medicine
Research interest
Research interests include Genetic Associations and Epidemiology, Bone health and osteoporosis research, Genetic Mapping and Diversity in Plants and Animals, and Genomics and Rare Diseases.
Coupling metabolomics and exome sequencing reveals graded effects of rare damaging heterozygous variants on gene function and human traits
A systematic review and functional bioinformatics analysis of genes associated with Crohn’s disease identify more than 120 related genes
The Alzheimer's Disease Prediction Of Longitudinal Evolution (TADPOLE) Challenge: Results after 1 Year Follow-up
Identifying therapeutic drug targets using bidirectional effect genes.
Meta-Analysis of the Alzheimer’s Disease Human Brain Transcriptome and Functional Dissection in Mouse Models
Differences in the Presentation and Progression of Parkinson's Disease by Sex
Genomewide association study of Parkinson's disease clinical biomarkers in 12 longitudinal patients' cohorts
Meta-Analysis of Genomewide Association Studies Reveals Genetic Variants for Hip Bone Geometry
Disentangling the genetics of lean mass
Large-scale GWAS identifies multiple loci for hand grip strength providing biological insights into muscular fitness
Large meta-analysis of genome-wide association studies identifies five loci for lean body mass
Genetic correlation between amyotrophic lateral sclerosis and schizophrenia
A Loss-of-Function Splice Acceptor Variant in <i>IGF2</i> Is Protective for Type 2 Diabetes
Erratum: Large meta-analysis of genome-wide association studies identifies five loci for lean body mass
Analysis of protein-coding genetic variation in 60,706 humans
Genome-wide association analyses identify new risk variants and the genetic architecture of amyotrophic lateral sclerosis
Quantifying prion disease penetrance using large population control cohorts
Association of a Genetic Risk Score With Body Mass Index Across Different Birth Cohorts
A high-quality human reference panel reveals the complexity and distribution of genomic structural variants
New genetic loci link adipose and insulin biology to body fat distribution
Whole‐genome sequencing identifies EN1 as a determinant of bone density and fracture
Analysis of protein-coding genetic variation in 60,706 humans
Genome-Wide Association Study in an Admixed Case Series Reveals IL12A as a New Candidate in Behçet Disease
Defining the role of common variation in the genomic and biological architecture of adult human height
The genetics of Mexico recapitulates Native American substructure and affects biomedical traits
Association of a Low-Frequency Variant in<i>HNF1A</i>With Type 2 Diabetes in a Latino Population
Phenotypic Dissection of Bone Mineral Density Reveals Skeletal Site Specificity and Facilitates the Identification of Novel Loci in the Genetic Regulation of Bone Mass Attainment
Defining the role of common variation in the genomic and biological architecture of adult human height.
<scp><i>C9orf72</i></scp> and <scp><i>UNC13A</i></scp> are shared risk loci for amyotrophic lateral sclerosis and frontotemporal dementia: A genome‐wide meta‐analysis
Improved imputation quality of low-frequency and rare variants in European samples using the ‘Genome of The Netherlands’