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Milan Maçek

Charles University(CZ)University Hospital in Motol(CZ)

Publications by Year

Research Areas

Cystic Fibrosis Research Advances, Neonatal Respiratory Health Research, Tracheal and airway disorders, Genomics and Rare Diseases, Genetic Associations and Epidemiology

Most-Cited Works

→ Cystic fibrosis: A worldwide analysis ofCFTR mutations?correlation with incidence data and application to screening(2002)1,017 cited
→ Consensus on the use and interpretation of cystic fibrosis mutation analysis in clinical practice(2008)590 cited
→ Correlation between Genetic and Geographic Structure in Europe(2008)515 cited
→ Association of human aging with a functional variant of klotho(2002)487 cited
→ International Cooperation to Enable the Diagnosis of All Rare Genetic Diseases(2017)444 cited
→ A mutation in CFTR produces different phenotypes depending on chromosomal background(1993)441 cited

→ Genetic Structure of Europeans: A View from the North–East(2009)

432 cited

→ Chymotrypsin C (CTRC) variants that diminish activity or secretion are associated with chronic pancreatitis(2007)432 cited

→ Recommendations for the classification of diseases as CFTR-related disorders(2011)417 cited

→ The origin of the major cystic fibrosis mutation (ΔF508) in European populations(1994)343 cited