All Stories

  1. Neuroinflammation as a driver of Down syndrome-associated Alzheimer’s disease
  2. Cross-Ancestry Remapping of the Chromosome 1q31 Th2 pathway-associated interval Refines an Asthma Association Signal in Patients with Steroid-Dependent Disease
  3. SCOTCH: isoform-level characterization of gene expression through long-read single-cell RNA sequencing
  4. Targeting glutamatergic pathways: genetic insights into comorbid neurodevelopmental disorders
  5. Emergence of a high-risk multidrug-resistant Acinetobacter baumannii clone ST697 in nosocomial settings
  6. Convergent genetic pathways linking neuropsychiatric and ocular disorders in children
  7. Circulating amino acids and Type 2 diabetes in a Latin American population-based cohort
  8. Vascular malformations of the head and neck and a molecularly guided precision therapy framework
  9. Development and validation of a trans-ancestry polygenic risk score for type 1 diabetes
  10. Editorial: Insights in applied genetic epidemiology 2025
  11. Genetic susceptibility to PM2.5 exposure and transcriptional responses in pediatric asthma: insights from single-cell transcriptomics
  12. Sex specific genomic insights into type 1 diabetes through GWAS and single cell transcriptome analysis
  13. Circulating amino acids and Type 2 diabetes in a Latin American Population-based cohort
  14. APOL1 kidney risk variants and outcomes in children with congenital anomalies of the kidney and urinary tract
  15. Metabolic remodeling and the modulatory role of vitamin D deficiency in African American children and adolescents with obesity
  16. Single vs Dual Genetic Disease in Children with Congenital Anomalies and Solid Tumors
  17. Redefining the role of the thiol-based agent N -acetylcysteine in human health and disease and elucidating potential advantages of its amide derivative
  18. 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
  19. Pro‑inflammatory insulin‑resistant lipid phenotype in down syndrome identified by 1H‑NMR metabolomics in obesity-matched African‑American children and young adults
  20. CD71+ erythroid cell expansion in late‐onset systemic lupus erythematosus
  21. Sex as a modifier of genetic risk for type 1 diabetes
  22. Data-informed insights into sex differences in peripheral blood mononuclear cells from single-cell transcriptomics
  23. Poster 236: Genome-Wide Association Study of African and European Populations With Anterior Cruciate Ligament Injury
  24. Natural killer cell subpopulations in the peripheral blood of single ventricle/hypoplastic left heart syndrome patients via single-cell RNA sequencing
  25. Single‐Cell RNA Sequencing of Peripheral Blood Mononuclear Cells in Patients With Single Ventricle/Hypoplastic Left Heart Syndrome
  26. The impact of prematurity on pediatric asthma morbidity and indices with environmental pollution and genetic susceptibility
  27. Sex Specific Genomic Insights into Type 1 Diabetes through GWAS and Single Cell Transcriptome Analysis
  28. Clinical association between asthma and anxiety is unrelated to genetic risk factors
  29. Development and validation of a Trans-Ancestry polygenic risk score for Type 1 Diabetes
  30. Deep learning algorithms reveal genomic markers for anxiety disorder in a large cohort of children with down syndrome
  31. VCL/ICAM-1 pathway is associated with lung inflammatory damage in SARS-CoV-2 Omicron infection
  32. Sex-specific spirometry effects of adult COPD polygenic score in children with asthma
  33. Risk of Alzheimer's disease in Down syndrome: Insights gained by multi‐omics
  34. Genomic variation and impact on the proteins of Mpox virus
  35. A molecular basis for milk allergen immune recognition in eosinophilic esophagitis
  36. The genetic landscape of pediatric postural orthostatic tachycardia syndrome
  37. Characterization of a circulating milk-specific TCR clonotype in a child with EoE milk allergy
  38. Genetic modifiers of asthma response to air pollution in children: An African ancestry GWAS and PM2.5 polygenic risk score study
  39. CRISPR screening reveals SYCP3 as a key driver of metastasis in prostate cancer
  40. O57: Association of polygenic risk scores with disease prevalence in pediatrics: Insights into obesity, asthma, type 1 and type 2 diabetes
  41. Rare variants in cardiomyopathy genes predispose to cardiac injury in severe COVID-19 patients of African or Hispanic ancestry
  42. Genetic Association of Juvenile Idiopathic Arthritis With Adult Rheumatic Disease
  43. BAG3’s dual roles in Parkinson’s disease and cardiomyopathy: benefit or liability?
  44. Companion to: A molecular basis for milk allergen immune recognition in eosinophilic esophagitis
  45. Abstract 4140702: Sex Differences Revealed by Single Cell Transcriptome Analysis of Peripheral Blood Mononuclear Cells in Single Ventricle/Hypoplastic Left Heart Patients
  46. The Role of BAG3 Protein Interactions in Cardiomyopathies
  47. Deciphering protective genomic factors of tumor development in pediatric down syndrome via deep learning approach to whole genome and RNA sequencing
  48. Implications of the non‐neuronal cholinergic system for therapeutic interventions of inflammatory skin diseases
  49. Role ofBAG3protein interactions in cardiomyopathies
  50. Navigating Complexity in Postural Orthostatic Tachycardia Syndrome
  51. Single-cell RNA Sequencing of Peripheral Blood Mononuclear Cells in Patients with Single Ventricle/Hypoplastic Left Heart Syndrome
  52. Characterization of Natural Killer Cell Subpopulations in the Blood of Single Ventricle/Hypoplastic Left Heart Syndrome Patients Using Single-Cell RNA Sequencing
  53. Copy number variations contribute to malignant tumor development in children with serious birth defects
  54. Emerging Role of Soluble Suppression of Tumorigenicity 2 as Biomarker for Acute Exacerbations in COPD Patients
  55. Shared molecular mechanisms and transdiagnostic potential of neurodevelopmental disorders and immune disorders
  56. Target genes regulated by CLEC16A intronic region associated with common variable immunodeficiency
  57. The Genetic Landscape of Pediatric Postural Orthostatic Tachycardia Syndrome
  58. Single-Cell Omics for Transcriptome CHaracterization (SCOTCH): isoform-level characterization of gene expression through long-read single-cell RNA sequencing
  59. CRISPR/Cas9 screenings unearth protein arginine methyltransferase 7 as a novel essential gene in prostate cancer metastasis
  60. NASP gene contributes to autism by epigenetic dysregulation of neural and immune pathways
  61. Revealing novel genomic insights and therapeutic targets for juvenile idiopathic arthritis through omics
  62. Central Conducting Lymphatic Anomalies
  63. Mitochondrial DNA Haplogroup K Is Protective of Autism Spectrum Disorder Risk in Populations of European Ancestry
  64. Single-Cell RNA Sequencing Technologies
  65. Children with Birth Defects Have a Higher Risk of Cancer: Learning from an In-Depth CNV Analysis
  66. A Protective Role of Low Polygenic Risk Score in Healthy Individuals Carrying Attention-Deficit/Hyperactivity Disorder–Associated Copy Number Variations
  67. The Circassians and the Chechens in Jordan: results of a decade of epidemiological and genetic studies
  68. Genomic information of children with malignant brain tumors for the prediction of length of hospitalization
  69. Genomic variants exclusively identified in children with birth defects and concurrent malignant tumors predispose to cancer development
  70. Genetic Scores for Body Weight
  71. CRISPR/Cas9 screenings unearth protein arginine methyltransferase 7 as a novel driver of metastasis in prostate cancer
  72. Using Genetic Information to Predict Alzheimer's Disease Risk Across Different Ethnicities
  73. Trans-ethnic Polygenic Risk Scores for Body Mass Index
  74. TOPORS as a novel causal gene for Joubert syndrome
  75. Precision Medicine
  76. Identification of copy number variants contributing to hallux valgus
  77. BAG3: Nature’s Quintessential Multi-Functional Protein Functions as a Ubiquitous Intra-Cellular Glue
  78. Genome-wide association study of the age of onset of type 1 diabetes reveals HTATIP2 as a novel T cell regulator
  79. International Study on Polygenic Risk Scores for Body Weight Across Different Ethnic Groups
  80. Single Cell RNAseq of Peripheral Blood Mononuclear Cells from Fresh and Stored Blood Samples
  81. Trans-ethnic Genomic Informed Risk Assessment for Alzheimer’s disease: An International Hundred K+ Cohorts Consortium Study
  82. Understanding BAG3 Gene for Creating Targeted Treatments for Dilated Cardiomyopathies
  83. Metabolomic profiling for dyslipidemia in pediatric patients with sickle cell disease, on behalf of the IHCC consortium
  84. Identification of risk variants related to malignant tumors in children with birth defects by whole genome sequencing
  85. Genetic architecture of asthma in African American patients
  86. COVID-19 in pediatrics: Genetic susceptibility
  87. Identification of novel loci in obstructive sleep apnea in European American and African American children
  88. Identification of Novel Loci Shared by Juvenile Idiopathic Arthritis Subtypes Through Integrative Genetic Analysis
  89. Metabolomic profiling of samples from pediatric patients with asthma unveils deficient nutrients in African Americans
  90. Mutation burden analysis of six common mental disorders in African Americans by whole genome sequencing
  91. Burden of rare coding variants reveals genetic heterogeneity between obese and non-obese asthma patients in the African American population
  92. Mendelian randomization study of obesity and type 2 diabetes in hospitalized COVID-19 patients
  93. Expansion of Schizophrenia Gene Network Knowledge Using Machine Learning Selected Signals From Dorsolateral Prefrontal Cortex and Amygdala RNA-seq Data
  94. A genome-wide association meta-analysis identifies new eosinophilic esophagitis loci
  95. Genetic analysis for type 1 diabetes genes in juvenile dermatomyositis unveils genetic disease overlap
  96. Identification of Mitochondrial DNA Variants Associated With Risk of Neuroblastoma
  97. Circulating LIGHT (TNFSF14) and Interleukin-18 Levels in Sepsis-Induced Multi-Organ Injuries
  98. Improved genetic risk scoring algorithm for type 1 diabetes prediction
  99. Application of deep learning algorithm on whole genome sequencing data uncovers structural variants associated with multiple mental disorders in African American patients
  100. Corrigendum
  101. Insights into non-autoimmune type 1 diabetes with 13 novel loci in low polygenic risk score patients
  102. Genetic architecture of type 1 diabetes with low genetic risk score informed by 41 unreported loci
  103. Deep learning prediction of attention-deficit hyperactivity disorder in African Americans by copy number variation
  104. Abstract 2310: Identification of novel essential genes for prostate cancer metastasis by genome scale CRISPR approaches
  105. Combined application of genetic and polygenic risk scores for type 1 diabetes risk prediction
  106. Elevation of Circulating LIGHT (TNFSF14) and Interleukin-18 Levels in Sepsis-Induced Multi-Organ Injuries
  107. Serum levels of the IgA isotype switch factor TGF‐β1 are elevated in patients with COVID‐19
  108. Metabolomic profiling of anaerobic and aerobic energy metabolic pathways in chronic obstructive pulmonary disease
  109. Genetic correlations between COVID-19 and a variety of traits and diseases
  110. New insights into hallux valgus by whole exome sequencing study
  111. Machine Learning Reduced Gene/Non-Coding RNA Features That Classify Schizophrenia Patients Accurately and Highlight Insightful Gene Clusters
  112. Rare Recurrent Variants in Noncoding Regions Impact Attention-Deficit Hyperactivity Disorder (ADHD) Gene Networks in Children of both African American and European American Ancestry
  113. FLNC and MYLK2 Gene Mutations in a Chinese Family with Different Phenotypes of Cardiomyopathy
  114. Association of novel rare coding variants with juvenile idiopathic arthritis
  115. DLL1 and type 1 diabetes with less prominent autoimmune response
  116. Genetic correlations between COVID-19 and a variety of traits and diseases
  117. Interpretation of Maturity-Onset Diabetes of the Young Genetic Variants Based on American College of Medical Genetics and Genomics Criteria: Machine-Learning Model Development
  118. Heparin-binding protein and aggravation/multi-organ damage in severe COVID-19
  119. Mitochondrial DNA haplogroups and risk of attention deficit and hyperactivity disorder in European Americans
  120. COVID-19: Look to the Future, Learn from the Past
  121. Expression Pattern of the SARS-CoV-2 Entry Genes ACE2 and TMPRSS2 in the Respiratory Tract
  122. The Multi-Omics Architecture of Juvenile Idiopathic Arthritis
  123. Genetics of Low Polygenic Risk Score Type 1 Diabetes Patients: rare variants in 22 novel loci
  124. Non-coding structural variation differentially impacts attention-deficit hyperactivity disorder (ADHD) gene networks in African American vs Caucasian children
  125. Integrative Genetics Analysis of Juvenile Idiopathic Arthritis Identifies Novel Loci
  126. The Infection Rate of COVID-19 in Wuhan, China: Combined Analysis of Population Samples
  127. High prevalence of elevated serum liver enzymes in Chinese children suggests metabolic syndrome as a common risk factor
  128. Machine learning reduced gene/non-coding RNA features that classify Schizophrenia patients accurately and highlight insightful gene clusters
  129. FLNC and MYLK2 gene mutations in a Chinese family with different phenotypes of cardiomyopathy
  130. Distinct features of SARS-CoV-2-specific IgA response in COVID-19 patients
  131. Liraglutide Ameliorates Lipotoxicity-Induced Oxidative Stress by Activating the NRF2 Pathway in HepG2 Cells
  132. Role of the ADCY9 gene in cardiac abnormalities of the Rubinstein-Taybi syndrome
  133. Mitochondrial DNA Haplogroups and Susceptibility to Neuroblastoma
  134. Rare Genetic Variants of Large Effect Influence Risk of Type 1 Diabetes
  135. Association of Rare Recurrent Copy Number Variants With Congenital Heart Defects Based on Next-Generation Sequencing Data From Family Trios
  136. Application of ACMG criteria to classify variants in the human gene mutation database
  137. Metabolomics study in COPD
  138. Value of immune factors for monitoring risk of lung cancer in patients with interstitial lung disease
  139. Microduplications at the 15q11.2 BP1–BP2 locus are enriched in patients with anorexia nervosa
  140. Effects of Intranasal Cellulose Powder on Asthma Control in Children With Mild-to-Moderate Perennial Allergic Rhinitis: A Randomized, Placebo-Controlled Trial
  141. Entropy change of biological dynamics in COPD
  142. Nonfunctional pancreatic endocrine tumor in the peripancreatic region in a Chinese patient with multiple endocrine neoplasia type 1
  143. Effect of hypercortisolism on bone mineral density and bone metabolism: A potential protective effect of adrenocorticotropic hormone in patients with Cushing’s disease
  144. Active form of vitamin D ameliorates non-alcoholic fatty liver disease by alleviating oxidative stress in a high-fat diet rat model
  145. A novel AVPR2 gene mutation of X-linked congenital nephrogenic diabetes insipidus in an Asian pedigree
  146. 1,25(OH)2D3 downregulates the Toll-like receptor 4-mediated inflammatory pathway and ameliorates liver injury in diabetic rats
  147. Clostridium difficile infection in diabetes
  148. Gene-Specific Function Prediction for Non-Synonymous Mutations in Monogenic Diabetes Genes
  149. Genome-wide search for exonic variants affecting translational efficiency
  150. A case report of syndrome of inappropriate antidiuretic hormone secretion with Castleman’s disease and lymphoma
  151. Human Coding Synonymous Single Nucleotide Polymorphisms at Ramp Regions of mRNA Translation
  152. Ancestral Effect on HOMA-IR Levels Quantitated in an American Population of Mexican Origin
  153. PNPLA3 Polymorphisms and Liver Aminotransferase Levels in a Mexican American Population
  154. Population-based Risk Factors for Elevated Alanine Aminotransferase in a South Texas Mexican–American Population
  155. Screening for novel lead compounds increasing insulin expression in medullary thymic epithelial cells
  156. Association Between CASP8 and CASP10 Polymorphisms and Toxicity Outcomes With Platinum‐Based Chemotherapy in Chinese Patients With Non‐Small Cell Lung Cancer
  157. Translational genomic medicine: common metabolic traits and ancestral components of Mexican Americans
  158. Ancestry Informative Marker Set for Han Chinese Population
  159. Host susceptibility to tuberculosis: insights from a longitudinal study of gene expression in diabetes [Short communication]
  160. Adiponectin/leptin ratio and Metabolic Syndrome in a Mexican American population
  161. A Genome-Wide Meta-Analysis of Six Type 1 Diabetes Cohorts Identifies Multiple Associated Loci
  162. Decreased expression of ATP6V1H in type 2 diabetes: A pilot report on the diabetes risk study in Mexican Americans
  163. Association Study of Candidate Gene Polymorphisms and Obesity in a Young Mexican-American Population from South Texas
  164. Prevalence of Metabolic Syndrome and Risks of Abnormal Serum Alanine Aminotransferase in Hispanics: A Population-Based Study
  165. The Definition of Insulin Resistance Using HOMA-IR for Americans of Mexican Descent Using Machine Learning
  166. Molecular immunity to mycobacteria: knowledge from the mutation and phenotype spectrum analysis of Mendelian susceptibility to mycobacterial diseases
  167. What did we learn from the genome-wide association study for tuberculosis susceptibility?
  168. Knowledge gaining by human genetic studies on tuberculosis susceptibility
  169. In silico replication of the genome-wide association results of the Type 1 Diabetes Genetics Consortium
  170. Comparative genetic analysis of inflammatory bowel disease and type 1 diabetes implicates multiple loci with opposite effects
  171. Genome-wide profiling using single-nucleotide polymorphism arrays identifies novel chromosomal imbalances in pediatric glioblastomas
  172. Rfx6 directs islet formation and insulin production in mice and humans
  173. Reassessment of the type I diabetes association of the OAS1 locus
  174. Remapping the type I diabetes association of the CTLA4 locus
  175. The type I diabetes association of the IL2RA locus
  176. From Disease Association to Risk Assessment: An Optimistic View from Genome-Wide Association Studies on Type 1 Diabetes
  177. A cis-Acting Regulatory Variant in the IL2RA Locus
  178. Association of RASGRP1 with type 1 diabetes is revealed by combined follow-up of two genome-wide studies
  179. The effect of the MHC locus on autoantibodies in type 1 diabetes
  180. Identification of susceptibility genes for complex diseases using pooling-based genome-wide association scans
  181. The Genetic Basis of Diabetes
  182. Follow-Up Analysis of Genome-Wide Association Data Identifies Novel Loci for Type 1 Diabetes
  183. Association Analysis of Type 2 Diabetes Loci in Type 1 Diabetes
  184. The association between type 1 diabetes and the ITPR3 gene polymorphism due to linkage disequilibrium with HLA class II
  185. A Novel Susceptibility Locus for Type 1 Diabetes on Chr12q13 Identified by a Genome-Wide Association Study
  186. The association between the IFIH1 locus and type 1 diabetes
  187. The IRF5 polymorphism in type 1 diabetes
  188. The TCF7L2locus and type 1 diabetes
  189. A genome-wide association study identifies KIAA0350 as a type 1 diabetes gene
  190. A Common Variant of the PAX2 Gene Is Associated with Reduced Newborn Kidney Size
  191. Toward Further Mapping of the Association Between the IL2RA Locus and Type 1 Diabetes
  192. No association of type 1 diabetes with a functional polymorphism of the LRAP gene
  193. Genetic Control of Alternative Splicing in the TAP2 Gene: Possible Implication in the Genetics of Type 1 Diabetes
  194. Strand bias in complementary single-nucleotide polymorphisms of transcribed human sequences: evidence for functional effects of synonymous polymorphisms
  195. Lack of association of type 1 diabetes with the IL4R gene
  196. Type 1 diabetes and the OAS gene cluster: association with splicing polymorphism or haplotype?
  197. Confirmation of the association of the R620W polymorphism in the protein tyrosine phosphatase PTPN22 with type 1 diabetes in a family based study
  198. Assessing the validity of the association between the SUMO4 M55V variant and risk of type 1 diabetes
  199. Restless Legs Syndrome (RLS) in Uremic Patients Is Related to the Frequency of Hemodialysis Sessions