All Stories

  1. Neuroinflammation as a driver of Down syndrome-associated Alzheimer’s disease
  2. Editorial: Insights in applied genetic epidemiology 2025
  3. Genetic susceptibility to PM2.5 exposure and transcriptional responses in pediatric asthma: insights from single-cell transcriptomics
  4. Sex specific genomic insights into type 1 diabetes through GWAS and single cell transcriptome analysis
  5. Circulating amino acids and Type 2 diabetes in a Latin American Population-based cohort
  6. APOL1 kidney risk variants and outcomes in children with congenital anomalies of the kidney and urinary tract
  7. Metabolic remodeling and the modulatory role of vitamin D deficiency in African American children and adolescents with obesity
  8. Single vs Dual Genetic Disease in Children with Congenital Anomalies and Solid Tumors
  9. Unsupervised machine learning integrates genomic variants and EMR to unravel mechanisms of brain hemorrhage and epilepsy as early indicators of alzheimer’s in down syndrome
  10. Pro‑inflammatory insulin‑resistant lipid phenotype in down syndrome identified by 1H‑NMR metabolomics in obesity-matched African‑American children and young adults
  11. CD71+ erythroid cell expansion in late‐onset systemic lupus erythematosus
  12. Sex as a modifier of genetic risk for type 1 diabetes
  13. Data-informed insights into sex differences in peripheral blood mononuclear cells from single-cell transcriptomics
  14. Poster 236: Genome-Wide Association Study of African and European Populations With Anterior Cruciate Ligament Injury
  15. Natural killer cell subpopulations in the peripheral blood of single ventricle/hypoplastic left heart syndrome patients via single-cell RNA sequencing
  16. Single‐Cell RNA Sequencing of Peripheral Blood Mononuclear Cells in Patients With Single Ventricle/Hypoplastic Left Heart Syndrome
  17. The impact of prematurity on pediatric asthma morbidity and indices with environmental pollution and genetic susceptibility
  18. Sex Specific Genomic Insights into Type 1 Diabetes through GWAS and Single Cell Transcriptome Analysis
  19. Clinical association between asthma and anxiety is unrelated to genetic risk factors
  20. Development and validation of a Trans-Ancestry polygenic risk score for Type 1 Diabetes
  21. Deep learning algorithms reveal genomic markers for anxiety disorder in a large cohort of children with down syndrome
  22. VCL/ICAM-1 pathway is associated with lung inflammatory damage in SARS-CoV-2 Omicron infection
  23. Sex-specific spirometry effects of adult COPD polygenic score in children with asthma
  24. Risk of Alzheimer's disease in Down syndrome: Insights gained by multi‐omics
  25. Genomic variation and impact on the proteins of Mpox virus
  26. A molecular basis for milk allergen immune recognition in eosinophilic esophagitis
  27. The genetic landscape of pediatric postural orthostatic tachycardia syndrome
  28. Characterization of a circulating milk-specific TCR clonotype in a child with EoE milk allergy
  29. Genetic modifiers of asthma response to air pollution in children: An African ancestry GWAS and PM2.5 polygenic risk score study
  30. CRISPR screening reveals SYCP3 as a key driver of metastasis in prostate cancer
  31. O57: Association of polygenic risk scores with disease prevalence in pediatrics: Insights into obesity, asthma, type 1 and type 2 diabetes
  32. Rare variants in cardiomyopathy genes predispose to cardiac injury in severe COVID-19 patients of African or Hispanic ancestry
  33. Genetic Association of Juvenile Idiopathic Arthritis With Adult Rheumatic Disease
  34. BAG3’s dual roles in Parkinson’s disease and cardiomyopathy: benefit or liability?
  35. Companion to: A molecular basis for milk allergen immune recognition in eosinophilic esophagitis
  36. Abstract 4140702: Sex Differences Revealed by Single Cell Transcriptome Analysis of Peripheral Blood Mononuclear Cells in Single Ventricle/Hypoplastic Left Heart Patients
  37. The Role of BAG3 Protein Interactions in Cardiomyopathies
  38. Deciphering protective genomic factors of tumor development in pediatric down syndrome via deep learning approach to whole genome and RNA sequencing
  39. Implications of the non‐neuronal cholinergic system for therapeutic interventions of inflammatory skin diseases
  40. Role ofBAG3protein interactions in cardiomyopathies
  41. Navigating Complexity in Postural Orthostatic Tachycardia Syndrome
  42. Single-cell RNA Sequencing of Peripheral Blood Mononuclear Cells in Patients with Single Ventricle/Hypoplastic Left Heart Syndrome
  43. Characterization of Natural Killer Cell Subpopulations in the Blood of Single Ventricle/Hypoplastic Left Heart Syndrome Patients Using Single-Cell RNA Sequencing
  44. Copy number variations contribute to malignant tumor development in children with serious birth defects
  45. Emerging Role of Soluble Suppression of Tumorigenicity 2 as Biomarker for Acute Exacerbations in COPD Patients
  46. Shared molecular mechanisms and transdiagnostic potential of neurodevelopmental disorders and immune disorders
  47. Target genes regulated by CLEC16A intronic region associated with common variable immunodeficiency
  48. The Genetic Landscape of Pediatric Postural Orthostatic Tachycardia Syndrome
  49. Single-Cell Omics for Transcriptome CHaracterization (SCOTCH): isoform-level characterization of gene expression through long-read single-cell RNA sequencing
  50. CRISPR/Cas9 screenings unearth protein arginine methyltransferase 7 as a novel essential gene in prostate cancer metastasis
  51. NASP gene contributes to autism by epigenetic dysregulation of neural and immune pathways
  52. Revealing novel genomic insights and therapeutic targets for juvenile idiopathic arthritis through omics
  53. Central Conducting Lymphatic Anomalies
  54. Mitochondrial DNA Haplogroup K Is Protective of Autism Spectrum Disorder Risk in Populations of European Ancestry
  55. Single-Cell RNA Sequencing Technologies
  56. Children with Birth Defects Have a Higher Risk of Cancer: Learning from an In-Depth CNV Analysis
  57. A Protective Role of Low Polygenic Risk Score in Healthy Individuals Carrying Attention-Deficit/Hyperactivity Disorder–Associated Copy Number Variations
  58. The Circassians and the Chechens in Jordan: results of a decade of epidemiological and genetic studies
  59. Genomic information of children with malignant brain tumors for the prediction of length of hospitalization
  60. Genomic variants exclusively identified in children with birth defects and concurrent malignant tumors predispose to cancer development
  61. Genetic Scores for Body Weight
  62. CRISPR/Cas9 screenings unearth protein arginine methyltransferase 7 as a novel driver of metastasis in prostate cancer
  63. Using Genetic Information to Predict Alzheimer's Disease Risk Across Different Ethnicities
  64. Trans-ethnic Polygenic Risk Scores for Body Mass Index
  65. TOPORS as a novel causal gene for Joubert syndrome
  66. Precision Medicine
  67. Identification of copy number variants contributing to hallux valgus
  68. BAG3: Nature’s Quintessential Multi-Functional Protein Functions as a Ubiquitous Intra-Cellular Glue
  69. Genome-wide association study of the age of onset of type 1 diabetes reveals HTATIP2 as a novel T cell regulator
  70. International Study on Polygenic Risk Scores for Body Weight Across Different Ethnic Groups
  71. Single Cell RNAseq of Peripheral Blood Mononuclear Cells from Fresh and Stored Blood Samples
  72. Trans-ethnic Genomic Informed Risk Assessment for Alzheimer’s disease: An International Hundred K+ Cohorts Consortium Study
  73. Understanding BAG3 Gene for Creating Targeted Treatments for Dilated Cardiomyopathies
  74. Metabolomic profiling for dyslipidemia in pediatric patients with sickle cell disease, on behalf of the IHCC consortium
  75. Identification of risk variants related to malignant tumors in children with birth defects by whole genome sequencing
  76. Genetic architecture of asthma in African American patients
  77. COVID-19 in pediatrics: Genetic susceptibility
  78. Identification of novel loci in obstructive sleep apnea in European American and African American children
  79. Identification of Novel Loci Shared by Juvenile Idiopathic Arthritis Subtypes Through Integrative Genetic Analysis
  80. Metabolomic profiling of samples from pediatric patients with asthma unveils deficient nutrients in African Americans
  81. Mutation burden analysis of six common mental disorders in African Americans by whole genome sequencing
  82. Burden of rare coding variants reveals genetic heterogeneity between obese and non-obese asthma patients in the African American population
  83. Mendelian randomization study of obesity and type 2 diabetes in hospitalized COVID-19 patients
  84. Expansion of Schizophrenia Gene Network Knowledge Using Machine Learning Selected Signals From Dorsolateral Prefrontal Cortex and Amygdala RNA-seq Data
  85. A genome-wide association meta-analysis identifies new eosinophilic esophagitis loci
  86. Genetic analysis for type 1 diabetes genes in juvenile dermatomyositis unveils genetic disease overlap
  87. Identification of Mitochondrial DNA Variants Associated With Risk of Neuroblastoma
  88. Circulating LIGHT (TNFSF14) and Interleukin-18 Levels in Sepsis-Induced Multi-Organ Injuries
  89. Improved genetic risk scoring algorithm for type 1 diabetes prediction
  90. Application of deep learning algorithm on whole genome sequencing data uncovers structural variants associated with multiple mental disorders in African American patients
  91. Insights into non-autoimmune type 1 diabetes with 13 novel loci in low polygenic risk score patients
  92. Genetic architecture of type 1 diabetes with low genetic risk score informed by 41 unreported loci
  93. Deep learning prediction of attention-deficit hyperactivity disorder in African Americans by copy number variation
  94. Combined application of genetic and polygenic risk scores for type 1 diabetes risk prediction
  95. Elevation of Circulating LIGHT (TNFSF14) and Interleukin-18 Levels in Sepsis-Induced Multi-Organ Injuries
  96. Serum levels of the IgA isotype switch factor TGF‐β1 are elevated in patients with COVID‐19
  97. Metabolomic profiling of anaerobic and aerobic energy metabolic pathways in chronic obstructive pulmonary disease
  98. Genetic correlations between COVID-19 and a variety of traits and diseases
  99. New insights into hallux valgus by whole exome sequencing study
  100. Machine Learning Reduced Gene/Non-Coding RNA Features That Classify Schizophrenia Patients Accurately and Highlight Insightful Gene Clusters
  101. Rare Recurrent Variants in Noncoding Regions Impact Attention-Deficit Hyperactivity Disorder (ADHD) Gene Networks in Children of both African American and European American Ancestry
  102. FLNC and MYLK2 Gene Mutations in a Chinese Family with Different Phenotypes of Cardiomyopathy
  103. Association of novel rare coding variants with juvenile idiopathic arthritis
  104. DLL1 and type 1 diabetes with less prominent autoimmune response
  105. Genetic correlations between COVID-19 and a variety of traits and diseases
  106. Interpretation of Maturity-Onset Diabetes of the Young Genetic Variants Based on American College of Medical Genetics and Genomics Criteria: Machine-Learning Model Development
  107. Heparin-binding protein and aggravation/multi-organ damage in severe COVID-19
  108. Mitochondrial DNA haplogroups and risk of attention deficit and hyperactivity disorder in European Americans
  109. COVID-19: Look to the Future, Learn from the Past
  110. Expression Pattern of the SARS-CoV-2 Entry Genes ACE2 and TMPRSS2 in the Respiratory Tract
  111. The Multi-Omics Architecture of Juvenile Idiopathic Arthritis
  112. Genetics of Low Polygenic Risk Score Type 1 Diabetes Patients: rare variants in 22 novel loci
  113. Non-coding structural variation differentially impacts attention-deficit hyperactivity disorder (ADHD) gene networks in African American vs Caucasian children
  114. Integrative Genetics Analysis of Juvenile Idiopathic Arthritis Identifies Novel Loci
  115. The Infection Rate of COVID-19 in Wuhan, China: Combined Analysis of Population Samples
  116. High prevalence of elevated serum liver enzymes in Chinese children suggests metabolic syndrome as a common risk factor
  117. Machine learning reduced gene/non-coding RNA features that classify Schizophrenia patients accurately and highlight insightful gene clusters
  118. FLNC and MYLK2 gene mutations in a Chinese family with different phenotypes of cardiomyopathy
  119. Distinct features of SARS-CoV-2-specific IgA response in COVID-19 patients
  120. Liraglutide Ameliorates Lipotoxicity-Induced Oxidative Stress by Activating the NRF2 Pathway in HepG2 Cells
  121. Role of the ADCY9 gene in cardiac abnormalities of the Rubinstein-Taybi syndrome
  122. Mitochondrial DNA Haplogroups and Susceptibility to Neuroblastoma
  123. Rare Genetic Variants of Large Effect Influence Risk of Type 1 Diabetes
  124. Association of Rare Recurrent Copy Number Variants With Congenital Heart Defects Based on Next-Generation Sequencing Data From Family Trios
  125. Application of ACMG criteria to classify variants in the human gene mutation database
  126. Metabolomics study in COPD
  127. Value of immune factors for monitoring risk of lung cancer in patients with interstitial lung disease
  128. Microduplications at the 15q11.2 BP1–BP2 locus are enriched in patients with anorexia nervosa
  129. Effects of Intranasal Cellulose Powder on Asthma Control in Children With Mild-to-Moderate Perennial Allergic Rhinitis: A Randomized, Placebo-Controlled Trial
  130. Entropy change of biological dynamics in COPD
  131. Nonfunctional pancreatic endocrine tumor in the peripancreatic region in a Chinese patient with multiple endocrine neoplasia type 1
  132. Effect of hypercortisolism on bone mineral density and bone metabolism: A potential protective effect of adrenocorticotropic hormone in patients with Cushing’s disease
  133. Active form of vitamin D ameliorates non-alcoholic fatty liver disease by alleviating oxidative stress in a high-fat diet rat model
  134. A novel AVPR2 gene mutation of X-linked congenital nephrogenic diabetes insipidus in an Asian pedigree
  135. 1,25(OH)2D3 downregulates the Toll-like receptor 4-mediated inflammatory pathway and ameliorates liver injury in diabetic rats
  136. Clostridium difficile infection in diabetes
  137. Gene-Specific Function Prediction for Non-Synonymous Mutations in Monogenic Diabetes Genes
  138. Genome-wide search for exonic variants affecting translational efficiency
  139. A case report of syndrome of inappropriate antidiuretic hormone secretion with Castleman’s disease and lymphoma
  140. Human Coding Synonymous Single Nucleotide Polymorphisms at Ramp Regions of mRNA Translation
  141. Ancestral Effect on HOMA-IR Levels Quantitated in an American Population of Mexican Origin
  142. PNPLA3 Polymorphisms and Liver Aminotransferase Levels in a Mexican American Population
  143. Population-based Risk Factors for Elevated Alanine Aminotransferase in a South Texas Mexican–American Population
  144. Screening for novel lead compounds increasing insulin expression in medullary thymic epithelial cells
  145. Association Between CASP8 and CASP10 Polymorphisms and Toxicity Outcomes With Platinum‐Based Chemotherapy in Chinese Patients With Non‐Small Cell Lung Cancer
  146. Translational genomic medicine: common metabolic traits and ancestral components of Mexican Americans
  147. Ancestry Informative Marker Set for Han Chinese Population
  148. Host susceptibility to tuberculosis: insights from a longitudinal study of gene expression in diabetes [Short communication]
  149. Adiponectin/leptin ratio and Metabolic Syndrome in a Mexican American population
  150. A Genome-Wide Meta-Analysis of Six Type 1 Diabetes Cohorts Identifies Multiple Associated Loci
  151. Decreased expression of ATP6V1H in type 2 diabetes: A pilot report on the diabetes risk study in Mexican Americans
  152. Association Study of Candidate Gene Polymorphisms and Obesity in a Young Mexican-American Population from South Texas
  153. Prevalence of Metabolic Syndrome and Risks of Abnormal Serum Alanine Aminotransferase in Hispanics: A Population-Based Study
  154. The Definition of Insulin Resistance Using HOMA-IR for Americans of Mexican Descent Using Machine Learning
  155. Molecular immunity to mycobacteria: knowledge from the mutation and phenotype spectrum analysis of Mendelian susceptibility to mycobacterial diseases
  156. What did we learn from the genome-wide association study for tuberculosis susceptibility?
  157. Knowledge gaining by human genetic studies on tuberculosis susceptibility
  158. In silico replication of the genome-wide association results of the Type 1 Diabetes Genetics Consortium
  159. Comparative genetic analysis of inflammatory bowel disease and type 1 diabetes implicates multiple loci with opposite effects
  160. Genome-wide profiling using single-nucleotide polymorphism arrays identifies novel chromosomal imbalances in pediatric glioblastomas
  161. Rfx6 directs islet formation and insulin production in mice and humans
  162. Reassessment of the type I diabetes association of the OAS1 locus
  163. Remapping the type I diabetes association of the CTLA4 locus
  164. The type I diabetes association of the IL2RA locus
  165. From Disease Association to Risk Assessment: An Optimistic View from Genome-Wide Association Studies on Type 1 Diabetes
  166. A cis-Acting Regulatory Variant in the IL2RA Locus
  167. Association of RASGRP1 with type 1 diabetes is revealed by combined follow-up of two genome-wide studies
  168. The effect of the MHC locus on autoantibodies in type 1 diabetes
  169. Identification of susceptibility genes for complex diseases using pooling-based genome-wide association scans
  170. The Genetic Basis of Diabetes
  171. Follow-Up Analysis of Genome-Wide Association Data Identifies Novel Loci for Type 1 Diabetes
  172. Association Analysis of Type 2 Diabetes Loci in Type 1 Diabetes
  173. The association between type 1 diabetes and the ITPR3 gene polymorphism due to linkage disequilibrium with HLA class II
  174. A Novel Susceptibility Locus for Type 1 Diabetes on Chr12q13 Identified by a Genome-Wide Association Study
  175. The association between the IFIH1 locus and type 1 diabetes
  176. The IRF5 polymorphism in type 1 diabetes
  177. The TCF7L2locus and type 1 diabetes
  178. A genome-wide association study identifies KIAA0350 as a type 1 diabetes gene
  179. A Common Variant of the PAX2 Gene Is Associated with Reduced Newborn Kidney Size
  180. Toward Further Mapping of the Association Between the IL2RA Locus and Type 1 Diabetes
  181. No association of type 1 diabetes with a functional polymorphism of the LRAP gene
  182. Genetic Control of Alternative Splicing in the TAP2 Gene: Possible Implication in the Genetics of Type 1 Diabetes
  183. Strand bias in complementary single-nucleotide polymorphisms of transcribed human sequences: evidence for functional effects of synonymous polymorphisms
  184. Lack of association of type 1 diabetes with the IL4R gene
  185. Type 1 diabetes and the OAS gene cluster: association with splicing polymorphism or haplotype?
  186. Confirmation of the association of the R620W polymorphism in the protein tyrosine phosphatase PTPN22 with type 1 diabetes in a family based study
  187. Assessing the validity of the association between the SUMO4 M55V variant and risk of type 1 diabetes
  188. Restless Legs Syndrome (RLS) in Uremic Patients Is Related to the Frequency of Hemodialysis Sessions