All Stories

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