Verónica Felício

Measurements of CFTR-Mediated Cl− Secretion in Human Rectal Biopsies Constitute a Robust Biomarker for Cystic Fibrosis Diagnosis and Prognosis

Marisa Sousa, Maria Fátima Servidoni, Adriana Mendes Vinagre et al. · PLoS ONE · 2012 · 67 citations · Full text

R560S: A class II CFTR mutation that is not rescued by current modulators

Nikhil T Awatade, Sofia S. Ramalho, Iris A. L. Silva et al. · Journal of Cystic Fibrosis · 2018 · 36 citations · Full text

Comparative ex vivo, in vitro and in silico analyses of a CFTR splicing mutation: Importance of functional studies to establish disease liability of mutations

Anabela S. Ramalho, Luka A. Clarke, Marisa Sousa et al. · Journal of Cystic Fibrosis · 2015 · 27 citations · Full text

Silico Analyses, Somatic Variant, Genetic Disorder +12

Cystic Fibrosis Newborn Screening in Portugal: PAP Value in Populations with Stringent Rules for Genetic Studies

Ana Marcão, Celeste Barreto, L. Pereira et al. · International Journal of Neonatal Screening · 2018 · 21 citations · Full text

Genetic Testing, Neonatology, Genetic Epidemiology +19

The effect of premature termination codon mutations on <i>CFTR</i> mRNA abundance in human nasal epithelium and intestinal organoids: a basis for read‐through therapies in cystic fibrosis

Luka A. Clarke, Nikhil T Awatade, Verónica Felício et al. · Human Mutation · 2018 · 21 citations · Full text

Cftr Mrna Abundance, Inflammatory Lung Disease, Genetics +19