Pacific Northwest Diabetes Research Institute

Recent papers from Pacific Northwest Diabetes Research Institute

1. Severe Rotisserie Tilt of Scleral-Fixated CT Lucia 602 Intraocular Lenses: A Multicenter Case SeriesOphthalmic surgery, lasers & imaging retina · 2026
2. Chromosomal and Genetic Causes of Primary Ovarian Insufficiency in the Utah PopulationJournal of the Endocrine Society · 2026
3. Use of the term ‘family occupation’ in occupational science and occupational therapy literature: A systematic mapping review studyJournal of Occupational Science · 2026
4. Dietary vitamin C intake and the risk of islet autoimmunity and type 1 diabetes: The Environmental Determinants of Diabetes in the Young (TEDDY) StudyEuropean Journal of Nutrition · 2026
5. Finding Their Groove: How Neurodivergent Children Apply Creative Movement Skills Beyond the StudioAmerican Journal of Dance Therapy · 2026
6. Pervasive context-dependent effects in the genetic architecture of complex and quantitative traits revealed by a powerful multiparent mapping population in yeastPLoS Genetics · 2026
7. Copy Number Gains at 17p11.2 Sparing RAI1 : A Shared Phenotype PatternAmerican Journal of Medical Genetics Part A · 2026
8. Unveiling the Hidden Rules: Enhancing NMD Prediction for Protein-Truncating Variants2026
9. Retinol, Carotenoid, and Tocopherol Intake and Status, and the Risk of Islet Autoimmunity and Type 1 Diabetes: The Environmental Determinants of Diabetes in the Young StudyDiabetes/Metabolism Research and Reviews · 2026
10. Atlantic to Pacific: Outbreak of bivalve transmissible neoplasia detected in hybridizing soft-shell clams and eDNA in Puget SoundProceedings of the National Academy of Sciences · 2026
11. Pangenome reference assemblies reveal the variation and recent activity of human LINE-1 retrotransposons2026
12. De Novo Complex Genomic Rearrangement Spanning 2q31.1 in a Proband With Congenital Malformations: Genotype–Phenotype Correlation and Development of a CGR Detection PipelineAmerican Journal of Medical Genetics Part A · 2026
13. Respiratory insufficiency and sleep impairment in facioscapulohumeral muscular dystrophyNeuromuscular Disorders · 2026
14. Centromeric instability and chromoanasynthesis observed in nine supernumerary marker chromosomes resolved with long-read genome sequencing.2026
15. Familial medullary thyroid carcinoma secondary to an SLC30A9 intragenic deletion and translation reinitiation2026
16. Overexpression of SOX3 due to an X chromosome inversion leading to ovotesticular difference in sex developmentBiology of Sex Differences · 2026
17. Feasibility and performance of minimal-volume capillary blood screening for type 1 diabetes and coeliac disease autoantibodies across all age groups: the UNISCREEN population studyDiabetologia · 2026
18. Predicting epistasis across proteins by structural logicProceedings of the National Academy of Sciences · 2026
19. Current state of mammography-based artificial intelligence for future breast cancer risk prediction: a systematic reviewJNCI Journal of the National Cancer Institute · 2026
20. An integrated platform for concurrent structural and single-nucleotide variants improves copy-number detection and reveals pathogenic alleles in undiagnosed Mendelian familiesGenome Medicine · 2025