Genetic & Genomic MedicineInternational Journal of Molecular SciencesPeer-reviewed
Long-range PCR-based NGS applications to diagnose Mendelian retinal diseases
Jordi Maggi, Samuel Koller, Luzy Bähr…·Wolfgang Berger
This study develops a long-range PCR-based NGS protocol for diagnosing Mendelian retinal diseases, achieving high sensitivity and expanding coverage to non-coding regions.
24 citations