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Reclassifying inconclusive diagnosis after newborn screening for cystic fibrosis. Moving forward

Aurélie Hatton, Anne Bergougnoux, K. Zybert, B. Chevalier, Myriam Mesbahi, Jean Pierre Altéri, Katarzyna Walicka‐Serzysko, Magdalena Postek, Magali Taulan‐Cadars, Aleksander Edelman,

Journal of Cystic Fibrosis · 2021 · 19 citations · 35 references

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35

Defining the disease liability of variants in the cystic fibrosis transmembrane conductance regulator gene

Patrick R. Sosnay, Karen R. Siklosi, Fredrick Van Goor et al. · Nature Genetics · 2013 · 625 citations · Full text

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Polyvariant mutant cystic fibrosis transmembrane conductance regulator genes. The polymorphic (Tg)m locus explains the partial penetrance of the T5 polymorphism as a disease mutation.

Harry Cuppens, Wen‐chang Lin, Martine Jaspers et al. · Journal of Clinical Investigation · 1998 · 392 citations · Full text

, , +15

Correction of CFTR function in nasal epithelial cells from cystic fibrosis patients predicts improvement of respiratory function by CFTR modulators

Iwona Pranke, Aurélie Hatton, Juliette Simonin et al. · Scientific Reports · 2017 · 168 citations · Full text

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Newborn Screening for Cystic Fibrosis in California

Martin Kharrazi, Juan Yang, Tracey Bishop et al. · PEDIATRICS · 2015 · 147 citations

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Intestinal current measurement for diagnostic classification of patients with questionable cystic fibrosis: validation and reference data

Nico Derichs, Javier Sanz, Thomas von Känel et al. · Thorax · 2010 · 142 citations · Full text

, , +15