Cristina Bombieri

Recommendations for the classification of diseases as CFTR-related disorders

Cristina Bombieri, Mireille Claustres, K. De Boeck et al. · Journal of Cystic Fibrosis · 2011 · 413 citations · Full text

Medicine, Chronic Disease, Diagnosis +5

Variation in a Repeat Sequence Determines Whether a Common Variant of the Cystic Fibrosis Transmembrane Conductance Regulator Gene Is Pathogenic or Benign

Joshua D. Groman, Timothy Hefferon, Teresa Casals et al. · The American Journal of Human Genetics · 2004 · 248 citations · Full text

Molecular Diagnostic Techniques, Molecular Physiology, Disease Mechanism +10

Whole-Genome Sequencing Coupled to Imputation Discovers Genetic Signals for Anthropometric Traits

Ioanna Tachmazidou, Dániel Süveges, Josine L. Min et al. · The American Journal of Human Genetics · 2017 · 208 citations · Full text

Low-frequency and rare exome chip variants associate with fasting glucose and type 2 diabetes susceptibility

Jennifer Wessel, Audrey Y. Chu, Sara M. Willems et al. · Nature Communications · 2015 · 196 citations · Full text

Genome-wide Association Study, Metabolic Syndrome, Genetic Determinant +12

Increased incidence of cystic fibrosis gene mutations in adults with disseminated bronchiectasis

Pier Franco Pignatti, Cristina Bombieri, Cristina Marigo et al. · Human Molecular Genetics · 1995 · 191 citations

Engineering, Mendelian Disorder, Advanced Lung Disease +13