All Stories

  1. Enhanced health evaluation in mice using continuous home-cage monitoring and machine learning: a multicentric study
  2. Sustainability of gap funding programs aimed at commercializing academic innovation
  3. Using Machine Learning and Predictive Artificial Intelligence to Determine Cage Change Frequency for Mice Housed in Individually Ventilated Cages and Drive Vivarium Operational Efficiency
  4. Genetic ancestry and population structure in the All of Us Research Program cohort
  5. High level of complexity and global diversity of the 3q29 locus revealed by optical mapping and long-read sequencing
  6. The All of Us Research Program: Data quality, utility, and diversity
  7. Loss of function of OTUD7A in the schizophrenia- associated 15q13.3 deletion impairs synapse development and function in human neurons
  8. Novel Missense CNTNAP2 Variant Identified in Two Consanguineous Pakistani Families With Developmental Delay, Epilepsy, Intellectual Disability, and Aggressive Behavior
  9. Metabolic effects of the schizophrenia-associated 3q29 deletion
  10. Identifying susceptibility genes for primary ovarian insufficiency on the high-risk genetic background of a fragile X premutation
  11. Author Correction: Identifying genetic factors that contribute to the increased risk of congenital heart defects in infants with Down syndrome
  12. Staff Scientist Perspectives on Onboarding and Professional Development: A Case Study
  13. Convergent and distributed effects of the 3q29 deletion on the human neural transcriptome
  14. Sex-specific recombination patterns predict parent of origin for recurrent genomic disorders
  15. Craniofacial features of 3q29 deletion syndrome: Application of next‐generation phenotyping technology
  16. Deep phenotyping in 3q29 deletion syndrome: recommendations for clinical care
  17. Induced pluripotent stem cells from subjects with Lesch-Nyhan disease
  18. Organizing core facilities as force multipliers: strategies for research universities
  19. A distinct cognitive profile in individuals with 3q29 deletion syndrome
  20. Whole-genome sequencing of African Americans implicates differential genetic architecture in inflammatory bowel disease
  21. Identifying genetic factors that contribute to the increased risk of congenital heart defects in infants with Down syndrome
  22. Signatures of somatic mutations and gene expression from p16INK4A positive head and neck squamous cell carcinomas (HNSCC)
  23. Metabolic effects of the schizophrenia-associated 3q29 deletion are sex-specific and uncoupled from behavioral phenotypes
  24. Bayesian Pathway Analysis for Complex Interactions
  25. Sex-specific recombination predicts parent of origin for recurrent genomic disorders
  26. Comprehensive phenotyping of neuropsychiatric traits in a multiplex 3q29 deletion family: a case report
  27. New phenotypes associated with 3q29 duplication syndrome: Results from the 3q29 registry
  28. Metabolic Pathway Analysis and Effectiveness of Tamoxifen in Danish Breast Cancer Patients
  29. Genetic contributors to risk of schizophrenia in the presence of a 22q11.2 deletion
  30. Large-Scale Exome Sequencing Study Implicates Both Developmental and Functional Changes in the Neurobiology of Autism
  31. Complete Sequence of the 22q11.2 Allele in 1,053 Subjects with 22q11.2 Deletion Syndrome Reveals Modifiers of Conotruncal Heart Defects
  32. Inherited genetic susceptibility to acute lymphoblastic leukemia in Down syndrome
  33. Neuropsychiatric phenotypes and a distinct constellation of ASD features in 3q29 deletion syndrome: results from the 3q29 registry
  34. Systematic Description of 3q29 Duplication Syndrome Reveals New Syndromic Phenotypes: Results from the 3q29 Registry
  35. Neutrophil GM-CSF signaling in inflammatory bowel disease patients is influenced by non-coding genetic variants
  36. Large-Scale Exome Sequencing Study Implicates Both Developmental and Functional Changes in the Neurobiology of Autism
  37. Large-scale exome sequencing study implicates both developmental and functional changes in the neurobiology of autism
  38. Variance of IQ is partially dependent on deletion type among 1,427 22q11.2 deletion syndrome subjects
  39. Retraction Notice to: Nested Inversion Polymorphisms Predispose Chromosome 22q11.2 to Meiotic Rearrangements
  40. Genetic and Transcriptomic Variation Linked to Neutrophil Granulocyte–Macrophage Colony-Stimulating Factor Signaling in Pediatric Crohn’s Disease
  41. Neuropsychiatric Phenotypes and a Distinct Constellation of ASD Features in 3q29 Deletion Syndrome: Results from the 3q29 Registry
  42. Clinical and Genomic Correlates of Neutrophil Reactive Oxygen Species Production in Pediatric Patients With Crohn’s Disease
  43. Genetic variants and pathways implicated in a pediatric inflammatory bowel disease cohort
  44. Enhanced Contribution of HLA in Pediatric Onset Ulcerative Colitis
  45. Bystro: rapid online variant annotation and natural-language filtering at whole-genome scale
  46. Analysis of Copy Number Variants on Chromosome 21 in Down Syndrome-Associated Congenital Heart Defects
  47. Bystro: rapid online variant annotation and natural-language filtering at whole-genome scale
  48. Omicseq: searching omics data without using metadata
  49. PEMapper and PECaller provide a simplified approach to whole-genome sequencing
  50. Genome-Wide Association Study Identifies African-Specific Susceptibility Loci in African Americans With Inflammatory Bowel Disease
  51. Microarray oligonucleotide probe designer: a Web service
  52. Mitochondrial DNA in the Bark Weevils: Phylogeny and Evolution in the Pissodes strobi Species Group (Coleoptera: Curculionidae)