All Stories

  1. Identifying susceptibility genes for primary ovarian insufficiency on the high-risk genetic background of a fragile X premutation
  2. Author Correction: Identifying genetic factors that contribute to the increased risk of congenital heart defects in infants with Down syndrome
  3. Staff Scientist Perspectives on Onboarding and Professional Development: A Case Study
  4. Convergent and distributed effects of the 3q29 deletion on the human neural transcriptome
  5. Sex-specific recombination patterns predict parent of origin for recurrent genomic disorders
  6. Craniofacial features of 3q29 deletion syndrome: Application of next‐generation phenotyping technology
  7. Deep phenotyping in 3q29 deletion syndrome: recommendations for clinical care
  8. Induced pluripotent stem cells from subjects with Lesch-Nyhan disease
  9. Organizing core facilities as force multipliers: strategies for research universities
  10. A distinct cognitive profile in individuals with 3q29 deletion syndrome
  11. Whole-genome sequencing of African Americans implicates differential genetic architecture in inflammatory bowel disease
  12. Identifying genetic factors that contribute to the increased risk of congenital heart defects in infants with Down syndrome
  13. Signatures of somatic mutations and gene expression from p16INK4A positive head and neck squamous cell carcinomas (HNSCC)
  14. Metabolic effects of the schizophrenia-associated 3q29 deletion are sex-specific and uncoupled from behavioral phenotypes
  15. Bayesian Pathway Analysis for Complex Interactions
  16. Sex-specific recombination predicts parent of origin for recurrent genomic disorders
  17. Comprehensive phenotyping of neuropsychiatric traits in a multiplex 3q29 deletion family: a case report
  18. New phenotypes associated with 3q29 duplication syndrome: Results from the 3q29 registry
  19. Metabolic Pathway Analysis and Effectiveness of Tamoxifen in Danish Breast Cancer Patients
  20. Genetic contributors to risk of schizophrenia in the presence of a 22q11.2 deletion
  21. Large-Scale Exome Sequencing Study Implicates Both Developmental and Functional Changes in the Neurobiology of Autism
  22. Complete Sequence of the 22q11.2 Allele in 1,053 Subjects with 22q11.2 Deletion Syndrome Reveals Modifiers of Conotruncal Heart Defects
  23. Inherited genetic susceptibility to acute lymphoblastic leukemia in Down syndrome
  24. Neuropsychiatric phenotypes and a distinct constellation of ASD features in 3q29 deletion syndrome: results from the 3q29 registry
  25. Systematic Description of 3q29 Duplication Syndrome Reveals New Syndromic Phenotypes: Results from the 3q29 Registry
  26. Neutrophil GM-CSF signaling in inflammatory bowel disease patients is influenced by non-coding genetic variants
  27. Large-Scale Exome Sequencing Study Implicates Both Developmental and Functional Changes in the Neurobiology of Autism
  28. Genetic and Transcriptomic Variation Linked to Neutrophil Granulocyte–Macrophage Colony-Stimulating Factor Signaling in Pediatric Crohn’s Disease
  29. Genetic variants and pathways implicated in a pediatric inflammatory bowel disease cohort
  30. Analysis of Copy Number Variants on Chromosome 21 in Down Syndrome-Associated Congenital Heart Defects
  31. Omicseq: searching omics data without using metadata
  32. PEMapper and PECaller provide a simplified approach to whole-genome sequencing
  33. Microarray oligonucleotide probe designer: a Web service
  34. Mitochondrial DNA in the Bark Weevils: Phylogeny and Evolution in the Pissodes strobi Species Group (Coleoptera: Curculionidae)