Drupal-Biblio17<style face="normal" font="default" size="100%">Genetic profiles of 103,106 individuals in the Taiwan Biobank provide insights into the health and history of Han Chinese.</style>Drupal-Biblio17<style face="normal" font="default" size="100%">Haplotype-resolved diverse human genomes and integrated analysis of structural variation.</style>Drupal-Biblio17<style face="normal" font="default" size="100%">Identification of Required Host Factors for SARS-CoV-2 Infection in Human Cells.</style>Drupal-Biblio17<style face="normal" font="default" size="100%">Phenotypic and protein localization heterogeneity associated with AHDC1 pathogenic protein-truncating alleles in Xia-Gibbs syndrome.</style>Drupal-Biblio17<style face="normal" font="default" size="100%">Analysis of cardiac magnetic resonance imaging in 36,000 individuals yields genetic insights into dilated cardiomyopathy.</style>Drupal-Biblio17<style face="normal" font="default" size="100%">Combining Imaging and Genetics to Predict Recurrence of Anticoagulation-Associated Intracerebral Hemorrhage.</style>Drupal-Biblio17<style face="normal" font="default" size="100%">Complex mosaic structural variations in human fetal brains.</style>Drupal-Biblio17<style face="normal" font="default" size="100%">dbMTS: A comprehensive database of putative human microRNA target site SNVs and their functional predictions.</style>Drupal-Biblio17<style face="normal" font="default" size="100%">Determinants of telomere length across human tissues.</style>Drupal-Biblio17<style face="normal" font="default" size="100%">Genetic diagnoses in epilepsy: The impact of dynamic exome analysis in a pediatric cohort.</style>Drupal-Biblio17<style face="normal" font="default" size="100%">Heterozygous Gene Deficiency and Risk of Coronary Artery Disease.</style>Drupal-Biblio17<style face="normal" font="default" size="100%">Inherited causes of clonal haematopoiesis in 97,691 whole genomes.</style>Drupal-Biblio17<style face="normal" font="default" size="100%">Large-Scale Exome Sequencing Study Implicates Both Developmental and Functional Changes in the Neurobiology of Autism.</style>Drupal-Biblio17<style face="normal" font="default" size="100%">Major Impacts of Widespread Structural Variation on Gene Expression and Crop Improvement in Tomato.</style>Drupal-Biblio17<style face="normal" font="default" size="100%">A missense variant in Mitochondrial Amidoxime Reducing Component 1 gene and protection against liver disease.</style>Drupal-Biblio17<style face="normal" font="default" size="100%">Phenotypic expansion in KIF1A-related dominant disorders: A description of novel variants and review of published cases.</style>Drupal-Biblio17<style face="normal" font="default" size="100%">RNA Identification of PRIME Cells Predicting Rheumatoid Arthritis Flares.</style>Drupal-Biblio17<style face="normal" font="default" size="100%">Serum sphingolipids and incident diabetes in a US population with high diabetes burden: the Hispanic Community Health Study/Study of Latinos (HCHS/SOL).</style>Drupal-Biblio17<style face="normal" font="default" size="100%">Spinal muscular atrophy diagnosis and carrier screening from genome sequencing data.</style>Drupal-Biblio17<style face="normal" font="default" size="100%">A structural variation reference for medical and population genetics.</style>Drupal-Biblio17<style face="normal" font="default" size="100%">Transcriptomic signatures across human tissues identify functional rare genetic variation.</style>Drupal-Biblio17<style face="normal" font="default" size="100%">Validation of a Genome-Wide Polygenic Score for Coronary Artery Disease in South Asians.</style>Drupal-Biblio17<style face="normal" font="default" size="100%">Whole-exome sequencing in adult patients with developmental and epileptic encephalopathy: It is never too late.</style>Drupal-Biblio17<style face="normal" font="default" size="100%">Aberrant Function of the C-Terminal Tail of HIST1H1E Accelerates Cellular Senescence and Causes Premature Aging.</style>Drupal-Biblio17<style face="normal" font="default" size="100%">Accurate circular consensus long-read sequencing improves variant detection and assembly of a human genome.</style>Drupal-Biblio17<style face="normal" font="default" size="100%">Ancestral Admixture Is the Main Determinant of Global Biodiversity in Fission Yeast.</style>Drupal-Biblio17<style face="normal" font="default" size="100%">Bi-allelic GOT2 Mutations Cause a Treatable Malate-Aspartate Shuttle-Related Encephalopathy.</style>Drupal-Biblio17<style face="normal" font="default" size="100%">Differential NOVA2-Mediated Splicing in Excitatory and Inhibitory Neurons Regulates Cortical Development and Cerebellar Function.</style>Drupal-Biblio17<style face="normal" font="default" size="100%">Evaluation of the detection of GBA missense mutations and other variants using the Oxford Nanopore MinION.</style>Drupal-Biblio17<style face="normal" font="default" size="100%">Genetic architecture of laterality defects revealed by whole exome sequencing.</style>Drupal-Biblio17<style face="normal" font="default" size="100%">Genome sequencing identifies multiple deleterious variants in autism patients with more severe phenotypes.</style>Drupal-Biblio17<style face="normal" font="default" size="100%">MSTO1 mutations cause mtDNA depletion, manifesting as muscular dystrophy with cerebellar involvement.</style>Drupal-Biblio17<style face="normal" font="default" size="100%">Pathogenic Abnormal Splicing Due to Intronic Deletions that Induce Biophysical Space Constraint for Spliceosome Assembly.</style>Drupal-Biblio17<style face="normal" font="default" size="100%">The pleiotropy associated with de novo variants in CHD4, CNOT3, and SETD5 extends to moyamoya angiopathy.</style>Drupal-Biblio17<style face="normal" font="default" size="100%">Redefining the Etiologic Landscape of Cerebellar Malformations.</style>Drupal-Biblio17<style face="normal" font="default" size="100%">Whole-Genome Sequencing to Characterize Monogenic and Polygenic Contributions in Patients Hospitalized With Early-Onset Myocardial Infarction.</style>Drupal-Biblio17<style face="normal" font="default" size="100%">Analysis of predicted loss-of-function variants in UK Biobank identifies variants protective for disease.</style>Drupal-Biblio17<style face="normal" font="default" size="100%">Cardioembolic Stroke Risk and Recovery After Anticoagulation-Related Intracerebral Hemorrhage.</style>Drupal-Biblio17<style face="normal" font="default" size="100%">Characterizing reduced coverage regions through comparison of exome and genome sequencing data across 10 centers.</style>Drupal-Biblio17<style face="normal" font="default" size="100%">Complex rearrangements and oncogene amplifications revealed by long-read DNA and RNA sequencing of a breast cancer cell line.</style>Drupal-Biblio17<style face="normal" font="default" size="100%">Whole-Genome Sequencing of Pharmacogenetic Drug Response in Racially Diverse Children with Asthma.</style>Drupal-Biblio17<style face="normal" font="default" size="100%">cTag-PAPERCLIP Reveals Alternative Polyadenylation Promotes Cell-Type Specific Protein Diversity and Shifts Araf Isoforms with Microglia Activation.</style>Drupal-Biblio17<style face="normal" font="default" size="100%">Disruption of the ATXN1-CIC complex causes a spectrum of neurobehavioral phenotypes in mice and humans.</style>Drupal-Biblio17<style face="normal" font="default" size="100%">Genomic Patterns of De Novo Mutation in Simplex Autism.</style>Drupal-Biblio17<style face="normal" font="default" size="100%">The impact of structural variation on human gene expression.</style>Drupal-Biblio17<style face="normal" font="default" size="100%">Type 2 Diabetes Variants Disrupt Function of SLC16A11 through Two Distinct Mechanisms.</style>Drupal-Biblio17<style face="normal" font="default" size="100%">Genome Sequencing of Autism-Affected Families Reveals Disruption of Putative Noncoding Regulatory DNA.</style>