Homozygous mutations in CSF1R cause a pediatric-onset leukoencephalopathy and can result in congenital absence of microglia N Oosterhof, IJ Chang, EG Karimiani, LE Kuil, DM Jensen, R Daza, ... The American Journal of Human Genetics 104 (5), 936-947, 2019 | 195 | 2019 |
Genome-wide association studies of metabolites in Finnish men identify disease-relevant loci X Yin, LS Chan, D Bose, AU Jackson, P VandeHaar, AE Locke, ... Nature communications 13 (1), 1644, 2022 | 79 | 2022 |
SVEP1 is a human coronary artery disease locus that promotes atherosclerosis IH Jung, JS Elenbaas, A Alisio, K Santana, EP Young, CJ Kang, ... Science translational medicine 13 (586), eabe0357, 2021 | 33 | 2021 |
Association of structural variation with cardiometabolic traits in Finns L Chen, HJ Abel, I Das, DE Larson, L Ganel, KL Kanchi, AA Regier, ... The American Journal of Human Genetics 108 (4), 583-596, 2021 | 26 | 2021 |
Thousands of small, novel genes predicted in global phage genomes BJ Fremin, AS Bhatt, NC Kyrpides, A Sengupta, A Sczyrba, AM da Silva, ... Cell reports 39 (12), 2022 | 25 | 2022 |
Mitochondrial genome copy number measured by DNA sequencing in human blood is strongly associated with metabolic traits via cell-type composition differences L Ganel, L Chen, R Christ, J Vangipurapu, E Young, I Das, K Kanchi, ... Human genomics 15 (1), 34, 2021 | 14 | 2021 |
Capitalizing on insights from human genetics to identify novel therapeutic targets for coronary artery disease EP Young, NO Stitziel Annual review of medicine 70, 19-32, 2019 | 7 | 2019 |
Genome-wide association study of 1,391 plasma metabolites in 6,136 Finnish men identifies 303 novel signals and provides biological insights into human diseases X Yin, LS Chan, D Bose, AU Jackson, P VandeHaar, AE Locke, ... medRxiv, 2021.10. 19.21265094, 2021 | 2 | 2021 |
Mitochondrial genome copy number in human blood-derived DNA is strongly associated with insulin levels and related metabolic traits and primarily reflects cell-type composition … L Ganel, L Chen, R Christ, J Vangipurapu, E Young, I Das, K Kanchi, ... MedRxiv, 2020.10. 23.20218586, 2020 | 1 | 2020 |
Whole-genome sequencing uncovers two loci for coronary artery calcification and identifies ARSE as a regulator of vascular calcification PS de Vries, MP Conomos, K Singh, CJ Nicholson, D Jain, NR Hasbani, ... Nature Cardiovascular Research 2 (12), 1159-1172, 2023 | | 2023 |
SVEP1, a novel human coronary artery disease locus, promotes atherosclerosis IH Jung, JS Elenbaas, A Alisio, K Santana, EP Young, CJ Kang, ... bioRxiv, 2020.06. 15.151027, 2020 | | 2020 |