697
Articles
40.2K
Citations
7.5
avg. Impact Factor
104
h-index

Most Cited Articles of Program in Medical and Population Genetics in 2020

TitleJournalYearCitations
Large-Scale Exome Sequencing Study Implicates Both Developmental and Functional Changes in the Neurobiology of AutismCell2020578
Androgen Signaling Regulates SARS-CoV-2 Receptor Levels and Is Associated with Severe COVID-19 Symptoms in MenCell Stem Cell202085
A missense variant in Mitochondrial Amidoxime Reducing Component 1 gene and protection against liver diseasePLoS Genetics202049
Polygenic Scores to Assess Atherosclerotic Cardiovascular Disease Risk: Clinical Perspectives and Basic ImplicationsCirculation Research202044
Whole-Genome and RNA Sequencing Reveal Variation and Transcriptomic Coordination in the Developing Human Prefrontal CortexCell Reports202043
SYCP2 Translocation-Mediated Dysregulation and Frameshift Variants Cause Human Male InfertilityAmerican Journal of Human Genetics202039
Transcriptomic signatures across human tissues identify functional rare genetic variationScience202036
Genetic predisposition to smoking in relation to 14 cardiovascular diseasesEuropean Heart Journal202036
Limitations of Contemporary Guidelines for Managing Patients at High Genetic Risk of Coronary Artery DiseaseJournal of the American College of Cardiology202033
Predicting functional effects of missense variants in voltage-gated sodium and calcium channelsScience Translational Medicine202027
Mendelian Randomization Study of Obesity and Cerebrovascular DiseaseAnnals of Neurology202026
Heart rate variability with photoplethysmography in 8 million individuals: a cross-sectional studyThe Lancet Digital Health202025
Genetics of Cerebral Small Vessel DiseaseStroke202024
Genome-Wide Polygenic Score, Clinical Risk Factors, and Long-Term Trajectories of Coronary Artery DiseaseArteriosclerosis, Thrombosis, and Vascular Biology202024
Delineation of a Human Mendelian Disorder of the DNA Demethylation Machinery: TET3 DeficiencyAmerican Journal of Human Genetics202022
Comprehensive characterization of amino acid positions in protein structures reveals molecular effect of missense variantsProceedings of the National Academy of Sciences of the United States of America202022
Promotion of somatic CAG repeat expansion by Fan1 knock-out in Huntington's disease knock-in mice is blocked by Mlh1 knock-outHuman Molecular Genetics202022
Genetic and Functional Analyses Point to FAN1 as the Source of Multiple Huntington Disease Modifier EffectsAmerican Journal of Human Genetics202021
Integrative Omics Approach to Identifying Genes Associated With Atrial FibrillationCirculation Research202021
UK Biobank Whole-Exome Sequence Binary Phenome Analysis with Robust Region-Based Rare-Variant TestAmerican Journal of Human Genetics202021
Clinical Utility of Lipoprotein(a) and LPA Genetic Risk Score in Risk Prediction of Incident Atherosclerotic Cardiovascular DiseaseJAMA Cardiology202021
Characterising a healthy adult with a rare HAO1 knockout to support a therapeutic strategy for primary hyperoxaluriaELife202019
Cohort Profile: East London Genes & Health (ELGH), a community-based population genomics and health study in British Bangladeshi and British Pakistani peopleInternational Journal of Epidemiology202019
Case 24-2020: A 44-Year-Old Woman with Chest Pain, Dyspnea, and ShockNew England Journal of Medicine202018
Heart Failure in Women With Hypertensive Disorders of Pregnancy: Insights From the Cardiovascular Disease in Norway ProjectHypertension202018