Publications
A missense variant in Mitochondrial Amidoxime Reducing Component 1 gene and protection against liver disease. PLoS Genet 16, e1008629 (2020).
Neurophysiological and Genetic Findings in Patients With Juvenile Myoclonic Epilepsy. Front Integr Neurosci 14, 45 (2020).
The Parkinson's Disease Genome-Wide Association Study Locus Browser. Mov Disord 35, 2056-2067 (2020).
The Parkinson's Disease Genome-Wide Association Study Locus Browser. Mov Disord 35, 2056-2067 (2020).
The Parkinson's Disease Genome-Wide Association Study Locus Browser. Mov Disord 35, 2056-2067 (2020).
Polygenic background modifies penetrance of monogenic variants for tier 1 genomic conditions. Nat Commun 11, 3635 (2020).
RNA Identification of PRIME Cells Predicting Rheumatoid Arthritis Flares. N Engl J Med 383, 218-228 (2020).
RNA Identification of PRIME Cells Predicting Rheumatoid Arthritis Flares. N Engl J Med 383, 218-228 (2020).
Serum sphingolipids and incident diabetes in a US population with high diabetes burden: the Hispanic Community Health Study/Study of Latinos (HCHS/SOL). Am J Clin Nutr 112, 57-65 (2020).
Spinal muscular atrophy diagnosis and carrier screening from genome sequencing data. Genet Med 22, 945-953 (2020).
Association of Genetic Variation With Cirrhosis: A Multi-Trait Genome-Wide Association and Gene-Environment Interaction Study. Gastroenterology 160, 1620-1633.e13 (2021).
Association of structural variation with cardiometabolic traits in Finns. Am J Hum Genet 108, 583-596 (2021).
Genetic and non-genetic factors affecting the expression of COVID-19-relevant genes in the large airway epithelium. Genome Med 13, 66 (2021).
Haplotype-resolved diverse human genomes and integrated analysis of structural variation. Science 372, (2021).
Haplotype-resolved diverse human genomes and integrated analysis of structural variation. Science 372, (2021).
Phylogenetic history of patrilineages rare in northern and eastern Europe from large-scale re-sequencing of human Y-chromosomes. Eur J Hum Genet (2021). doi:10.1038/s41431-021-00897-8
Transethnic Transferability of a Genome-Wide Polygenic Score for Coronary Artery Disease. Circ Genom Precis Med 14, e003092 (2021).