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Genetics
Czechia
2026

D-Index & Metrics

Genetics

D-Index
70
Citations
32532
World Ranking
2234
National Ranking
3

Research.com Recognitions

  • 2026 - Research.com Genetics in Czechia Leader Award
  • 2024 - Research.com Genetics in Czechia Leader Award
  • 2023 - Research.com Genetics in Czechia Leader Award

Overview

Milan Macek is a researcher affiliated with Charles University in Czech Republic. Their work spans multiple disciplines primarily within the fields of Medicine and Biochemistry, Genetics and Molecular Biology. They have contributed extensively to subfields including Pulmonary and Respiratory Medicine, Cardiology and Cardiovascular Medicine, Genetics, Molecular Biology, and Epidemiology.

Their research topics cover a wide range of areas. Key focus topics include:

  • Cystic Fibrosis Research Advances
  • Neonatal Respiratory Health Research
  • Cardiomyopathy and Myosin Studies
  • Cardiovascular Effects of Exercise
  • Genomics and Rare Diseases
  • Cardiac electrophysiology and arrhythmias
  • BRCA gene mutations in cancer

Macek has a significant publication record in several respected venues. The frequent publication outlets for their work include:

  • Journal of Cystic Fibrosis
  • European Journal of Human Genetics
  • Cor et Vasa
  • UNC Libraries
  • EP Europace

Some of their recent notable papers are:

  • Opportunistic genomic screening. Recommendations of the European Society of Human Genetics (2020), published in European Journal of Human Genetics
  • Recommendations for whole genome sequencing in diagnostics for rare diseases (2022), published in European Journal of Human Genetics
  • The use of polygenic risk scores in pre-implantation genetic testing: an unproven, unethical practice (2021), published in European Journal of Human Genetics
  • Incidence of SARS-CoV-2 in people with cystic fibrosis in Europe between February and June 2020 (2021), published in Journal of Cystic Fibrosis
  • Amelogenesis imperfecta: Next-generation sequencing sheds light on Witkop's classification (2023), published in Frontiers in Physiology

Frequent co-authors collaborating with Macek include:

  • Alice Krebsová
  • Pavel Votýpka
  • Malgorzata Libik
  • Petra Peldová
  • Pavel Dřevı́nek

Best Publications

  • Biological insights from 108 schizophrenia-associated genetic loci

    Stephan Ripke;Stephan Ripke;Benjamin M. Neale;Benjamin M. Neale;Aiden Corvin;James T. R. Walters

  • Modeling Linkage Disequilibrium Increases Accuracy of Polygenic Risk Scores

    Bjarni J. Vilhjálmsson;Jian Yang;Hilary K. Finucane;Alexander Gusev

  • Cystic fibrosis: a worldwide analysis of CFTR mutations--correlation with incidence data and application to screening.

    Joseph L. Bobadilla;Milan Macek;Jason P. Fine;Philip M. Farrell

  • Consensus on the use and interpretation of cystic fibrosis mutation analysis in clinical practice

    C. Castellani;H. Cuppens;M. Macek;J. J. Cassiman

  • Genomic Dissection of Bipolar Disorder and Schizophrenia, Including 28 Subphenotypes

    Douglas M. Ruderfer;Stephan Ripke;Stephan Ripke;Stephan Ripke;Andrew McQuillin;James Boocock

  • Multi-ancestry genome-wide association study of 21,000 cases and 95,000 controls identifies new risk loci for atopic dermatitis

    Lavinia Paternoster;Marie Standl;Johannes Waage;Hansjoerg Baurecht

  • A mutation in CFTR produces different phenotypes depending on chromosomal background

    S. Kiesewetter;M. Macek;C. Davis;S. M. Curristin

  • Correlation between genetic and geographic structure in Europe.

    Oscar Lao;Timothy T. Lu;Michael Nothnagel;Olaf Junge

  • Association of human aging with a functional variant of klotho

    Dan E. Arking;Alice Krebsova;Milan Macek;Albert Arking

  • The future of cystic fibrosis care: a global perspective

    Scott C Bell;Marcus A Mall;Hector Gutierrez;Milan Macek

  • Chymotrypsin C (CTRC) variants that diminish activity or secretion are associated with chronic pancreatitis.

    Jonas Rosendahl;Heiko Witt;Richárd Szmola;Eesh Bhatia

  • Recommendations for the classification of diseases as CFTR-related disorders

    Cristina Bombieri;M Claustres;K De Boeck;N Derichs

  • The origin of the major cystic fibrosis mutation (ΔF508) in European populations

    N. Morral;J. Bertranpetit;X. Estivill;V. Nunes

  • International Cooperation to Enable the Diagnosis of All Rare Genetic Diseases.

    Kym M. Boycott;Ana Rath;Jessica X. Chong;Taila Hartley

  • Genetic structure of Europeans: a view from the North-East

    Mari Nelis;Mari Nelis;Tõnu Esko;Tõnu Esko;Reedik Mägi;Fritz Zimprich

  • A common variant on chromosome 11q13 is associated with atopic dermatitis

    Jorge Esparza-Gordillo;Stephan Weidinger;Regina Fölster-Holst;Anja Bauerfeind

  • Variants in CPA1 are strongly associated with early onset chronic pancreatitis

    Heiko Witt;Sebastian Beer;Jonas Rosendahl;Jian Min Chen;Jian Min Chen

  • European best practice guidelines for cystic fibrosis neonatal screening

    Carlo Castellani;Kevin W. Southern;Keith Brownlee;Jeannette Dankert Roelse

  • Genetic modifiers of liver disease in cystic fibrosis.

    Jaclyn R. Bartlett;Kenneth J. Friedman;Simon C. Ling;Rhonda G. Pace

  • Best practice guidelines for molecular genetic diagnosis of cystic fibrosis and CFTR-related disorders – updated European recommendations

    Elisabeth Dequeker;Manfred Stuhrmann;Michael A Morris;Teresa Casals

Frequent Co-Authors

Tonu Esko
Tonu Esko University of Tartu
Claude Férec
Claude Férec University of Western Brittany
Garry R. Cutting
Garry R. Cutting Johns Hopkins University School of Medicine
Andres Metspalu
Andres Metspalu University of Tartu
Manfred Stuhrmann
Manfred Stuhrmann Hannover Medical School
Mari Nelis
Mari Nelis University of Tartu
Menachem Fromer
Menachem Fromer Broad Institute
Tune H. Pers
Tune H. Pers University of Copenhagen
Pier Franco Pignatti
Pier Franco Pignatti University of Verona
Thomas Werge
Thomas Werge University of Copenhagen

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Related Online Degrees & Career Pathways

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For affordability-conscious students, exploring health administration degrees online can help you advance your education without incurring high costs. These programs offer flexible career pathways complementing a genetics-focused background.

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