Associated Papers
Benchmarking AlphaMissense Pathogenicity Predictions Against Cystic Fibrosis Variants.
McDonald EF et al.
Biorxiv : the Preprint Server for Biology, 2024
37873426 (PubMed )
Supplement: media-3.xlsx › Sheet1
One-step NGS molecular analysis of the CFTR gene on newborn dried blood spots gives a higher diagnostic sensitivity in affected and carrier subjects: A pilot study.
Nunziato M et al.
Clinica Chimica Acta; International Journal of Clinical Chemistry, 2024
Benchmarking AlphaMissense pathogenicity predictions against cystic fibrosis variants.
McDonald EF et al.
Plos One, 2024
38271453 (PubMed )
Supplement: pone.0297560.s009.xlsx › Supp_Table_2
Cystic Fibrosis-Screening Positive Inconclusive Diagnosis: Newborn Screening and Long-Term Follow-Up Permits to Early Identify Patients with CFTR-Related Disorders.
Castaldo A et al.
Diagnostics (basel, Switzerland), 2020
32784480 (PubMed )
Supplement: diagnostics-10-00570-s001.zip › supple › Supplemental_Table_2.pdf
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