All Stories

  1. Carrier Screening for Spinal Muscular Atrophy Among U.S. In Vitro Fertilization Patients [289]
  2. Carrier Screening With Next-Generation Sequencing Detects Common, Uncommon, and Novel Mutations [288]
  3. A rigorous approach for selection of optimal variant sets for carrier screening with demonstration of clinical utility
  4. Carrier Screening of 48,761 Patients in the IVF Setting Utilizing Next Generation DNA Sequencing Detects Common, Rare and Otherwise Undetectable Pathogenic Variants in Prevalent, Society-Recommended Diseases
  5. Truncating Variants in the Majority of the Cytoplasmic Domain of PCDH15 Are Unlikely to Cause Usher Syndrome 1F
  6. Validation for Clinical Use of, and Initial Clinical Experience with, a Novel Approach to Population-Based Carrier Screening using High-Throughput, Next-Generation DNA Sequencing
  7. Next-Generation DNA Sequencing: Improving the Accuracy of Routine Carrier Screening
  8. Carrier Screening of 16,500 Patients in the IVF Setting Utilizing Next Generation DNA Sequencing Detects Common, Rare and Otherwise Undetectable Mutations in Prevalent, Society-Recommended Diseases
  9. Next‐generation DNA sequencing of HEXA : a step in the right direction for carrier screening
  10. Carrier screening of 8,500 IVF patients utilizing next generation DNA sequencing detects common, rare and otherwise undetectable mutations across society-recommended diseases
  11. Next-generation carrier screening
  12. Carrier Screening for Cystic Fibrosis among IVF Patients Utilizing Next Generation DNA Sequencing Detects Common, Rare, and Otherwise Undetectable Mutations
  13. Carrier Screening of 4,200 IVF Patients Utilizing Next Generation DNA Sequencing Detects Common, Rare, and Otherwise Undetectable Mutations across Several Diseases
  14. Use of the RB1 cDNA as a diagnostic probe in retinoblastoma families
  15. The critical region for Angelman syndrome lies between D15S122 and D15S113
  16. Frequency and parental origin of hypermethylated RB1 alleles in retinoblastoma
  17. Cloning of the breakpoints of a submicroscopic deletion in an Angelman syndrome patient
  18. Nerve cell production in Hydra is deregulated by tumour-promoting phorbol ester
  19. Possible involvement of the retinoblastoma gene in undifferentiated sinonasal carcinoma
  20. Epigenetic changes may contribute to the formation and spontaneous regression of retinoblastoma
  21. Mechanism of i(6p) formation in retinoblastoma tumor cells
  22. Detection of submicroscopic deletions and a DNA polymorphism at the retinoblastoma locus