All Stories

  1. Pro‑inflammatory insulin‑resistant lipid phenotype in down syndrome identified by 1H‑NMR metabolomics in obesity-matched African‑American children and young adults
  2. CD71+ erythroid cell expansion in late‐onset systemic lupus erythematosus
  3. Sex as a modifier of genetic risk for type 1 diabetes
  4. Data-informed insights into sex differences in peripheral blood mononuclear cells from single-cell transcriptomics
  5. Poster 236: Genome-Wide Association Study of African and European Populations With Anterior Cruciate Ligament Injury
  6. Natural killer cell subpopulations in the peripheral blood of single ventricle/hypoplastic left heart syndrome patients via single-cell RNA sequencing
  7. Single‐Cell RNA Sequencing of Peripheral Blood Mononuclear Cells in Patients With Single Ventricle/Hypoplastic Left Heart Syndrome
  8. The impact of prematurity on pediatric asthma morbidity and indices with environmental pollution and genetic susceptibility
  9. Sex Specific Genomic Insights into Type 1 Diabetes through GWAS and Single Cell Transcriptome Analysis
  10. Clinical association between asthma and anxiety is unrelated to genetic risk factors
  11. Development and validation of a Trans-Ancestry polygenic risk score for Type 1 Diabetes
  12. Deep learning algorithms reveal genomic markers for anxiety disorder in a large cohort of children with down syndrome
  13. VCL/ICAM-1 pathway is associated with lung inflammatory damage in SARS-CoV-2 Omicron infection
  14. Sex-specific spirometry effects of adult COPD polygenic score in children with asthma
  15. Risk of Alzheimer's disease in Down syndrome: Insights gained by multi‐omics
  16. Genomic variation and impact on the proteins of Mpox virus
  17. A molecular basis for milk allergen immune recognition in eosinophilic esophagitis
  18. The genetic landscape of pediatric postural orthostatic tachycardia syndrome
  19. Characterization of a circulating milk-specific TCR clonotype in a child with EoE milk allergy
  20. Genetic modifiers of asthma response to air pollution in children: An African ancestry GWAS and PM2.5 polygenic risk score study
  21. CRISPR screening reveals SYCP3 as a key driver of metastasis in prostate cancer
  22. O57: Association of polygenic risk scores with disease prevalence in pediatrics: Insights into obesity, asthma, type 1 and type 2 diabetes
  23. Rare variants in cardiomyopathy genes predispose to cardiac injury in severe COVID-19 patients of African or Hispanic ancestry
  24. Genetic Association of Juvenile Idiopathic Arthritis With Adult Rheumatic Disease
  25. BAG3’s dual roles in Parkinson’s disease and cardiomyopathy: benefit or liability?
  26. Companion to: A molecular basis for milk allergen immune recognition in eosinophilic esophagitis
  27. Abstract 4140702: Sex Differences Revealed by Single Cell Transcriptome Analysis of Peripheral Blood Mononuclear Cells in Single Ventricle/Hypoplastic Left Heart Patients
  28. The Role of BAG3 Protein Interactions in Cardiomyopathies
  29. Deciphering protective genomic factors of tumor development in pediatric down syndrome via deep learning approach to whole genome and RNA sequencing
  30. Implications of the non‐neuronal cholinergic system for therapeutic interventions of inflammatory skin diseases
  31. Role ofBAG3protein interactions in cardiomyopathies
  32. Navigating Complexity in Postural Orthostatic Tachycardia Syndrome
  33. Single-cell RNA Sequencing of Peripheral Blood Mononuclear Cells in Patients with Single Ventricle/Hypoplastic Left Heart Syndrome
  34. Characterization of Natural Killer Cell Subpopulations in the Blood of Single Ventricle/Hypoplastic Left Heart Syndrome Patients Using Single-Cell RNA Sequencing
  35. Copy number variations contribute to malignant tumor development in children with serious birth defects
  36. Emerging Role of Soluble Suppression of Tumorigenicity 2 as Biomarker for Acute Exacerbations in COPD Patients
  37. Shared molecular mechanisms and transdiagnostic potential of neurodevelopmental disorders and immune disorders
  38. Target genes regulated by CLEC16A intronic region associated with common variable immunodeficiency
  39. The Genetic Landscape of Pediatric Postural Orthostatic Tachycardia Syndrome
  40. Single-Cell Omics for Transcriptome CHaracterization (SCOTCH): isoform-level characterization of gene expression through long-read single-cell RNA sequencing
  41. CRISPR/Cas9 screenings unearth protein arginine methyltransferase 7 as a novel essential gene in prostate cancer metastasis
  42. NASP gene contributes to autism by epigenetic dysregulation of neural and immune pathways
  43. Revealing novel genomic insights and therapeutic targets for juvenile idiopathic arthritis through omics
  44. Central Conducting Lymphatic Anomalies
  45. Mitochondrial DNA Haplogroup K Is Protective of Autism Spectrum Disorder Risk in Populations of European Ancestry
  46. Single-Cell RNA Sequencing Technologies
  47. Children with Birth Defects Have a Higher Risk of Cancer: Learning from an In-Depth CNV Analysis
  48. A Protective Role of Low Polygenic Risk Score in Healthy Individuals Carrying Attention-Deficit/Hyperactivity Disorder–Associated Copy Number Variations
  49. The Circassians and the Chechens in Jordan: results of a decade of epidemiological and genetic studies
  50. Genomic information of children with malignant brain tumors for the prediction of length of hospitalization
  51. Genomic variants exclusively identified in children with birth defects and concurrent malignant tumors predispose to cancer development
  52. Genetic Scores for Body Weight
  53. CRISPR/Cas9 screenings unearth protein arginine methyltransferase 7 as a novel driver of metastasis in prostate cancer
  54. Using Genetic Information to Predict Alzheimer's Disease Risk Across Different Ethnicities
  55. Trans-ethnic Polygenic Risk Scores for Body Mass Index
  56. TOPORS as a novel causal gene for Joubert syndrome
  57. Precision Medicine
  58. Identification of copy number variants contributing to hallux valgus
  59. BAG3: Nature’s Quintessential Multi-Functional Protein Functions as a Ubiquitous Intra-Cellular Glue
  60. Genome-wide association study of the age of onset of type 1 diabetes reveals HTATIP2 as a novel T cell regulator
  61. International Study on Polygenic Risk Scores for Body Weight Across Different Ethnic Groups
  62. Single Cell RNAseq of Peripheral Blood Mononuclear Cells from Fresh and Stored Blood Samples
  63. Trans-ethnic Genomic Informed Risk Assessment for Alzheimer’s disease: An International Hundred K+ Cohorts Consortium Study
  64. Understanding BAG3 Gene for Creating Targeted Treatments for Dilated Cardiomyopathies
  65. Metabolomic profiling for dyslipidemia in pediatric patients with sickle cell disease, on behalf of the IHCC consortium
  66. Identification of risk variants related to malignant tumors in children with birth defects by whole genome sequencing
  67. Genetic architecture of asthma in African American patients
  68. COVID-19 in pediatrics: Genetic susceptibility
  69. Identification of novel loci in obstructive sleep apnea in European American and African American children
  70. Identification of Novel Loci Shared by Juvenile Idiopathic Arthritis Subtypes Through Integrative Genetic Analysis
  71. Metabolomic profiling of samples from pediatric patients with asthma unveils deficient nutrients in African Americans
  72. Mutation burden analysis of six common mental disorders in African Americans by whole genome sequencing
  73. Burden of rare coding variants reveals genetic heterogeneity between obese and non-obese asthma patients in the African American population
  74. Mendelian randomization study of obesity and type 2 diabetes in hospitalized COVID-19 patients
  75. Expansion of Schizophrenia Gene Network Knowledge Using Machine Learning Selected Signals From Dorsolateral Prefrontal Cortex and Amygdala RNA-seq Data
  76. A genome-wide association meta-analysis identifies new eosinophilic esophagitis loci
  77. Genetic analysis for type 1 diabetes genes in juvenile dermatomyositis unveils genetic disease overlap
  78. Identification of Mitochondrial DNA Variants Associated With Risk of Neuroblastoma
  79. Circulating LIGHT (TNFSF14) and Interleukin-18 Levels in Sepsis-Induced Multi-Organ Injuries
  80. Improved genetic risk scoring algorithm for type 1 diabetes prediction
  81. Application of deep learning algorithm on whole genome sequencing data uncovers structural variants associated with multiple mental disorders in African American patients
  82. Insights into non-autoimmune type 1 diabetes with 13 novel loci in low polygenic risk score patients
  83. Genetic architecture of type 1 diabetes with low genetic risk score informed by 41 unreported loci
  84. Deep learning prediction of attention-deficit hyperactivity disorder in African Americans by copy number variation
  85. Combined application of genetic and polygenic risk scores for type 1 diabetes risk prediction
  86. Elevation of Circulating LIGHT (TNFSF14) and Interleukin-18 Levels in Sepsis-Induced Multi-Organ Injuries
  87. Serum levels of the IgA isotype switch factor TGF‐β1 are elevated in patients with COVID‐19
  88. Metabolomic profiling of anaerobic and aerobic energy metabolic pathways in chronic obstructive pulmonary disease
  89. Genetic correlations between COVID-19 and a variety of traits and diseases
  90. New insights into hallux valgus by whole exome sequencing study
  91. Machine Learning Reduced Gene/Non-Coding RNA Features That Classify Schizophrenia Patients Accurately and Highlight Insightful Gene Clusters
  92. Rare Recurrent Variants in Noncoding Regions Impact Attention-Deficit Hyperactivity Disorder (ADHD) Gene Networks in Children of both African American and European American Ancestry
  93. FLNC and MYLK2 Gene Mutations in a Chinese Family with Different Phenotypes of Cardiomyopathy
  94. Association of novel rare coding variants with juvenile idiopathic arthritis
  95. DLL1 and type 1 diabetes with less prominent autoimmune response
  96. Genetic correlations between COVID-19 and a variety of traits and diseases
  97. Interpretation of Maturity-Onset Diabetes of the Young Genetic Variants Based on American College of Medical Genetics and Genomics Criteria: Machine-Learning Model Development
  98. Heparin-binding protein and aggravation/multi-organ damage in severe COVID-19
  99. Mitochondrial DNA haplogroups and risk of attention deficit and hyperactivity disorder in European Americans
  100. COVID-19: Look to the Future, Learn from the Past
  101. Expression Pattern of the SARS-CoV-2 Entry Genes ACE2 and TMPRSS2 in the Respiratory Tract
  102. The Multi-Omics Architecture of Juvenile Idiopathic Arthritis
  103. Genetics of Low Polygenic Risk Score Type 1 Diabetes Patients: rare variants in 22 novel loci
  104. Non-coding structural variation differentially impacts attention-deficit hyperactivity disorder (ADHD) gene networks in African American vs Caucasian children
  105. Integrative Genetics Analysis of Juvenile Idiopathic Arthritis Identifies Novel Loci
  106. The Infection Rate of COVID-19 in Wuhan, China: Combined Analysis of Population Samples
  107. High prevalence of elevated serum liver enzymes in Chinese children suggests metabolic syndrome as a common risk factor
  108. Machine learning reduced gene/non-coding RNA features that classify Schizophrenia patients accurately and highlight insightful gene clusters
  109. FLNC and MYLK2 gene mutations in a Chinese family with different phenotypes of cardiomyopathy
  110. Distinct features of SARS-CoV-2-specific IgA response in COVID-19 patients
  111. Liraglutide Ameliorates Lipotoxicity-Induced Oxidative Stress by Activating the NRF2 Pathway in HepG2 Cells
  112. Role of the ADCY9 gene in cardiac abnormalities of the Rubinstein-Taybi syndrome
  113. Mitochondrial DNA Haplogroups and Susceptibility to Neuroblastoma
  114. Rare Genetic Variants of Large Effect Influence Risk of Type 1 Diabetes
  115. Association of Rare Recurrent Copy Number Variants With Congenital Heart Defects Based on Next-Generation Sequencing Data From Family Trios
  116. Application of ACMG criteria to classify variants in the human gene mutation database
  117. Metabolomics study in COPD
  118. Value of immune factors for monitoring risk of lung cancer in patients with interstitial lung disease
  119. Microduplications at the 15q11.2 BP1–BP2 locus are enriched in patients with anorexia nervosa
  120. Effects of Intranasal Cellulose Powder on Asthma Control in Children With Mild-to-Moderate Perennial Allergic Rhinitis: A Randomized, Placebo-Controlled Trial
  121. Entropy change of biological dynamics in COPD
  122. Nonfunctional pancreatic endocrine tumor in the peripancreatic region in a Chinese patient with multiple endocrine neoplasia type 1
  123. Effect of hypercortisolism on bone mineral density and bone metabolism: A potential protective effect of adrenocorticotropic hormone in patients with Cushing’s disease
  124. Active form of vitamin D ameliorates non-alcoholic fatty liver disease by alleviating oxidative stress in a high-fat diet rat model
  125. A novel AVPR2 gene mutation of X-linked congenital nephrogenic diabetes insipidus in an Asian pedigree
  126. 1,25(OH)2D3 downregulates the Toll-like receptor 4-mediated inflammatory pathway and ameliorates liver injury in diabetic rats
  127. Clostridium difficile infection in diabetes
  128. Gene-Specific Function Prediction for Non-Synonymous Mutations in Monogenic Diabetes Genes
  129. Genome-wide search for exonic variants affecting translational efficiency
  130. A case report of syndrome of inappropriate antidiuretic hormone secretion with Castleman’s disease and lymphoma
  131. Human Coding Synonymous Single Nucleotide Polymorphisms at Ramp Regions of mRNA Translation
  132. Ancestral Effect on HOMA-IR Levels Quantitated in an American Population of Mexican Origin
  133. PNPLA3 Polymorphisms and Liver Aminotransferase Levels in a Mexican American Population
  134. Population-based Risk Factors for Elevated Alanine Aminotransferase in a South Texas Mexican–American Population
  135. Screening for novel lead compounds increasing insulin expression in medullary thymic epithelial cells
  136. Association Between CASP8 and CASP10 Polymorphisms and Toxicity Outcomes With Platinum‐Based Chemotherapy in Chinese Patients With Non‐Small Cell Lung Cancer
  137. Translational genomic medicine: common metabolic traits and ancestral components of Mexican Americans
  138. Ancestry Informative Marker Set for Han Chinese Population
  139. Host susceptibility to tuberculosis: insights from a longitudinal study of gene expression in diabetes [Short communication]
  140. Adiponectin/leptin ratio and Metabolic Syndrome in a Mexican American population
  141. A Genome-Wide Meta-Analysis of Six Type 1 Diabetes Cohorts Identifies Multiple Associated Loci
  142. Decreased expression of ATP6V1H in type 2 diabetes: A pilot report on the diabetes risk study in Mexican Americans
  143. Association Study of Candidate Gene Polymorphisms and Obesity in a Young Mexican-American Population from South Texas
  144. Prevalence of Metabolic Syndrome and Risks of Abnormal Serum Alanine Aminotransferase in Hispanics: A Population-Based Study
  145. The Definition of Insulin Resistance Using HOMA-IR for Americans of Mexican Descent Using Machine Learning
  146. Molecular immunity to mycobacteria: knowledge from the mutation and phenotype spectrum analysis of Mendelian susceptibility to mycobacterial diseases
  147. What did we learn from the genome-wide association study for tuberculosis susceptibility?
  148. Knowledge gaining by human genetic studies on tuberculosis susceptibility
  149. In silico replication of the genome-wide association results of the Type 1 Diabetes Genetics Consortium
  150. Comparative genetic analysis of inflammatory bowel disease and type 1 diabetes implicates multiple loci with opposite effects
  151. Genome-wide profiling using single-nucleotide polymorphism arrays identifies novel chromosomal imbalances in pediatric glioblastomas
  152. Rfx6 directs islet formation and insulin production in mice and humans
  153. Reassessment of the type I diabetes association of the OAS1 locus
  154. Remapping the type I diabetes association of the CTLA4 locus
  155. The type I diabetes association of the IL2RA locus
  156. From Disease Association to Risk Assessment: An Optimistic View from Genome-Wide Association Studies on Type 1 Diabetes
  157. A cis-Acting Regulatory Variant in the IL2RA Locus
  158. Association of RASGRP1 with type 1 diabetes is revealed by combined follow-up of two genome-wide studies
  159. The effect of the MHC locus on autoantibodies in type 1 diabetes
  160. Identification of susceptibility genes for complex diseases using pooling-based genome-wide association scans
  161. The Genetic Basis of Diabetes
  162. Follow-Up Analysis of Genome-Wide Association Data Identifies Novel Loci for Type 1 Diabetes
  163. Association Analysis of Type 2 Diabetes Loci in Type 1 Diabetes
  164. The association between type 1 diabetes and the ITPR3 gene polymorphism due to linkage disequilibrium with HLA class II
  165. A Novel Susceptibility Locus for Type 1 Diabetes on Chr12q13 Identified by a Genome-Wide Association Study
  166. The association between the IFIH1 locus and type 1 diabetes
  167. The IRF5 polymorphism in type 1 diabetes
  168. The TCF7L2locus and type 1 diabetes
  169. A genome-wide association study identifies KIAA0350 as a type 1 diabetes gene
  170. A Common Variant of the PAX2 Gene Is Associated with Reduced Newborn Kidney Size
  171. Toward Further Mapping of the Association Between the IL2RA Locus and Type 1 Diabetes
  172. No association of type 1 diabetes with a functional polymorphism of the LRAP gene
  173. Genetic Control of Alternative Splicing in the TAP2 Gene: Possible Implication in the Genetics of Type 1 Diabetes
  174. Strand bias in complementary single-nucleotide polymorphisms of transcribed human sequences: evidence for functional effects of synonymous polymorphisms
  175. Lack of association of type 1 diabetes with the IL4R gene
  176. Type 1 diabetes and the OAS gene cluster: association with splicing polymorphism or haplotype?
  177. Confirmation of the association of the R620W polymorphism in the protein tyrosine phosphatase PTPN22 with type 1 diabetes in a family based study
  178. Assessing the validity of the association between the SUMO4 M55V variant and risk of type 1 diabetes
  179. Restless Legs Syndrome (RLS) in Uremic Patients Is Related to the Frequency of Hemodialysis Sessions