Large-Scale Exome Sequencing Study Implicates Both Developmental and Functional Changes in the Neurobiology of Autism | Cell | 2020 | 578 |
Androgen Signaling Regulates SARS-CoV-2 Receptor Levels and Is Associated with Severe COVID-19 Symptoms in Men | Cell Stem Cell | 2020 | 85 |
A missense variant in Mitochondrial Amidoxime Reducing Component 1 gene and protection against liver disease | PLoS Genetics | 2020 | 49 |
Polygenic Scores to Assess Atherosclerotic Cardiovascular Disease Risk: Clinical Perspectives and Basic Implications | Circulation Research | 2020 | 44 |
Whole-Genome and RNA Sequencing Reveal Variation and Transcriptomic Coordination in the Developing Human Prefrontal Cortex | Cell Reports | 2020 | 43 |
SYCP2 Translocation-Mediated Dysregulation and Frameshift Variants Cause Human Male Infertility | American Journal of Human Genetics | 2020 | 39 |
Transcriptomic signatures across human tissues identify functional rare genetic variation | Science | 2020 | 36 |
Genetic predisposition to smoking in relation to 14 cardiovascular diseases | European Heart Journal | 2020 | 36 |
Limitations of Contemporary Guidelines for Managing Patients at High Genetic Risk of Coronary Artery Disease | Journal of the American College of Cardiology | 2020 | 33 |
Predicting functional effects of missense variants in voltage-gated sodium and calcium channels | Science Translational Medicine | 2020 | 27 |
Mendelian Randomization Study of Obesity and Cerebrovascular Disease | Annals of Neurology | 2020 | 26 |
Heart rate variability with photoplethysmography in 8 million individuals: a cross-sectional study | The Lancet Digital Health | 2020 | 25 |
Genetics of Cerebral Small Vessel Disease | Stroke | 2020 | 24 |
Genome-Wide Polygenic Score, Clinical Risk Factors, and Long-Term Trajectories of Coronary Artery Disease | Arteriosclerosis, Thrombosis, and Vascular Biology | 2020 | 24 |
Delineation of a Human Mendelian Disorder of the DNA Demethylation Machinery: TET3 Deficiency | American Journal of Human Genetics | 2020 | 22 |
Comprehensive characterization of amino acid positions in protein structures reveals molecular effect of missense variants | Proceedings of the National Academy of Sciences of the United States of America | 2020 | 22 |
Promotion of somatic CAG repeat expansion by Fan1 knock-out in Huntington's disease knock-in mice is blocked by Mlh1 knock-out | Human Molecular Genetics | 2020 | 22 |
Genetic and Functional Analyses Point to FAN1 as the Source of Multiple Huntington Disease Modifier Effects | American Journal of Human Genetics | 2020 | 21 |
Integrative Omics Approach to Identifying Genes Associated With Atrial Fibrillation | Circulation Research | 2020 | 21 |
UK Biobank Whole-Exome Sequence Binary Phenome Analysis with Robust Region-Based Rare-Variant Test | American Journal of Human Genetics | 2020 | 21 |
Clinical Utility of Lipoprotein(a) and LPA Genetic Risk Score in Risk Prediction of Incident Atherosclerotic Cardiovascular Disease | JAMA Cardiology | 2020 | 21 |
Characterising a healthy adult with a rare HAO1 knockout to support a therapeutic strategy for primary hyperoxaluria | ELife | 2020 | 19 |
Cohort Profile: East London Genes & Health (ELGH), a community-based population genomics and health study in British Bangladeshi and British Pakistani people | International Journal of Epidemiology | 2020 | 19 |
Case 24-2020: A 44-Year-Old Woman with Chest Pain, Dyspnea, and Shock | New England Journal of Medicine | 2020 | 18 |
Heart Failure in Women With Hypertensive Disorders of Pregnancy: Insights From the Cardiovascular Disease in Norway Project | Hypertension | 2020 | 18 |