Emmanuel Kanavakis

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

Alternating hemiplegia of childhood or familial hemiplegic migraine?: A novel <i>ATP1A2</i> mutation

Kathryn J. Swoboda, Emmanuel Kanavakis, Athina Xaidara et al. · Annals of Neurology · 2004 · 168 citations

Systematic documentation and analysis of human genetic variation in hemoglobinopathies using the microattribution approach

Belinda Giardine, Joseph Borg, Douglas R. Higgs et al. · Nature Genetics · 2011 · 160 citations · Full text

CFTR gene mutations - including three novel nucleotide substitutions - and haplotype background in patients with asthma, disseminated bronchiectasis and chronic obstructive pulmonary disease

Maria Tzetis, Alexandra Efthymiadou, Stefanos Strofalis et al. · Human Genetics · 2001 · 139 citations

Asthma, Haplotype Background, Advanced Lung Disease +9

Dramatic Elevations of Interleukin-6 and Acute-Phase Reactants in Athletes Participating in the Ultradistance Foot Race Spartathlon: Severe Systemic Inflammation and Lipid and Lipoprotein Changes in Protracted Exercise

Alexandra Margeli, Katerina Skenderi, Maria Tsironi et al. · The Journal of Clinical Endocrinology & Metabolism · 2005 · 114 citations