All Stories

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