Gene List Selection Matters: Missed Diagnoses in Prenatal Exome Sequencing—PanelApp R21 and HPO‐Driven Versus OMIM‐Based Gene Lists

Documenti analoghi

• Genome‐Wide Cell‐Free DNA Analysis for Aneuploidy Detection in Miscarriages: Test Performance Meta‐Analysis
  di: Montse Pauta, et al.
  Pubblicazione: (2025)
• The High Diagnostic Yield of Prenatal Exome Sequencing Followed by 3400 Gene Panel Analysis in 629 Ongoing Pregnancies With Ultrasound Anomalies
  di: Karin E. M. Diderich, et al.
  Pubblicazione: (2024)
• PIGO Gene Variants: New Insights Into Prenatal Diagnosis
  di: A. Zambiasi, et al.
  Pubblicazione: (2025)
• Exome Sequencing of Fetuses With Intracranial Hemorrhage Unravels Novel Causative Genes and an Extreme Genetic Heterogeneity
  di: Thibault Coste, et al.
  Pubblicazione: (2025)
• Diagnostic Yield After Postnatal Reanalysis of Prenatal Exome Sequencing Results
  di: Kate Swanson, et al.
  Pubblicazione: (2025)