Greenwood Genetic Center

Recent papers from Greenwood Genetic Center

1. Biallelic germline variants in the hematologic malignancy predisposition gene DDX41 cause retinal dystrophy through dysregulation of retinal homeostasisGenome Medicine · 2026
2. Bi-Allelic PRKCZ Loss-of-Function Variants and Adult-Onset Retinitis PigmentosaJAMA Ophthalmology · 2026
3. Entanglement Crossovers Under Time-Dependent U(1) Symmetry Breaking in Monitored Quantum CircuitsEntropy · 2026
4. Hypomorphic IDUA genotypes are associated with retinitis pigmentosa in individuals without syndromic mucopolysaccharidosis type IThe American Journal of Human Genetics · 2026
5. mTOR-Mediated Neuron–Cancer InteractionsKinases and Phosphatases · 2026
6. The impact for causal associations between common diseases and inflammatory bowel disease: a disease-wide bidirectional Mendelian randomization studyInflammation Research · 2026
7. Genetic determinants that permit growth without the core septin Cdc12 in Cryptococcus neoformansG3 Genes Genomes Genetics · 2026
8. Exploring the clinical and mutational spectrum of MORC2 -associated disordersJournal of Medical Genetics · 2026
9. Enrichment of an Ehlers-Danlos-like phenotype in women with the FMR1 premutation: a pilot studyJournal of Medical Genetics · 2026
10. The Neurobehavioral Profile of Phelan–McDermid Syndrome: Suggestions for Assessment Tools in Light of the 2023 Consensus GuidelinesGenes · 2026
11. Abidi Syndrome and Another Family With X‐Linked Intellectual Disability Have TAF1 Variants and Reduced Phosphorylation of RNA Polymerase II Associated Protein 74American Journal of Medical Genetics Part A · 2026
12. XXYLT1 and Mendelian Retinal DystrophyJAMA Ophthalmology · 2026
13. Stress-induced secretory pathway disruption causes atypical metalloproteinase transport in PMM2-CDGiScience · 2026
14. Genetic Counselors as Research Leaders: A Pragmatic Pathway to Becoming a Federally Funded Principal Investigator in the United StatesJournal of Genetic Counseling · 2026
15. A role for EHMT2 in a novel autosomal recessive neurodevelopmental syndrome? A case reportFrontiers in Genetics · 2026
16. From extracellular entry to intracellular release: A water‐assisted transport cycle for creatine in SLC6A8Protein Science · 2026
17. Tetrabromobisphenol S (TBBPS)-induced developmental toxicity in zebrafish embryos: impacts on cytoskeletal proteins during gastrulationToxicological Sciences · 2026
18. TRNAU1AP and PRPF39 establish integrated control over processing of most abundant human non-coding RNAsNature Communications · 2026
19. Pathological disruption of CELF2 shuttling causes neuronal hyperactivity, learning deficits, and seizuresJournal of Clinical Investigation · 2026
20. Acquired ring chromosomes in hematological malignancies: A systematic evidence review for diagnostic advances, cytogenomic insights, and clinical significance by an International Consortium on Human Ring Chromosomes (ICHRC) working groupCancer Genetics · 2026